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    LTBP1 latent transforming growth factor beta binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 4052, updated on 3-Dec-2024

    Summary

    Official Symbol
    LTBP1provided by HGNC
    Official Full Name
    latent transforming growth factor beta binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:6714
    See related
    Ensembl:ENSG00000049323 MIM:150390; AllianceGenome:HGNC:6714
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ARCL2E
    Summary
    The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in gall bladder (RPKM 40.6), placenta (RPKM 32.5) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LTBP1 in Genome Data Viewer
    Location:
    2p22.3
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (32946953..33399509)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (32992680..33445650)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (33172020..33624576)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr2:33111152-33111352 Neighboring gene uncharacterized LOC105374453 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_58246 Neighboring gene uncharacterized LOC100271832 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11344 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11345 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11346 Neighboring gene Sharpr-MPRA regulatory region 2981 Neighboring gene NANOG hESC enhancer GRCh37_chr2:33281163-33281664 Neighboring gene Sharpr-MPRA regulatory region 6273 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:33294707-33295906 Neighboring gene H2AC histone family pseudogene 2 Neighboring gene tRNA-yW synthesizing protein 1 homolog pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr2:33444164-33444665 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:33534151-33534349 Neighboring gene RNA, 5S ribosomal pseudogene 91 Neighboring gene RNA, 5S ribosomal pseudogene 92 Neighboring gene microRNA 4430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15563 Neighboring gene RAS guanyl releasing protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15564 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15565 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15567 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15569 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11348 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11349 Neighboring gene RASGRP3 antisense RNA 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Cutis laxa, autosomal recessive, type 2E
    MedGen: C5561944 OMIM: 619451 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
    EBI GWAS Catalog
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Identification of 15 loci influencing height in a Korean population.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC163161

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables microfibril binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables microfibril binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables molecular adaptor activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables receptor ligand inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transforming growth factor beta binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transforming growth factor beta receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    latent-transforming growth factor beta-binding protein 1
    Names
    LTBP-1
    TGF-beta1-BP-1
    transforming growth factor beta-1-binding protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_000627.4NP_000618.4  latent-transforming growth factor beta-binding protein 1 isoform LTBP-1S precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (LTBP-1S) contains a shorter and distinct N-terminus, compared to isoform LTBP-1L.
      Source sequence(s)
      AC019127, AC019195, AC020594
      Consensus CDS
      CCDS33178.2
      UniProtKB/TrEMBL
      B7ZLY3
      Related
      ENSP00000384091.1, ENST00000407925.5
      Conserved Domains (6) summary
      smart00179
      Location:876917
      EGF_CA; Calcium-binding EGF-like domain
      PHA03247
      Location:416542
      PHA03247; large tegument protein UL36; Provisional
      cd00054
      Location:672705
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:589629
      EGF_CA; Calcium-binding EGF domain
      pfam00683
      Location:363404
      TB; TB domain
      pfam12662
      Location:570592
      cEGF; Complement Clr-like EGF-like
    2. NM_001166264.2NP_001159736.2  latent-transforming growth factor beta-binding protein 1 isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform LTBP-1L.
      Source sequence(s)
      AC019127, AC019195, AC020594
      Consensus CDS
      CCDS54344.1
      UniProtKB/TrEMBL
      B7ZLY3, E7EV71
      Related
      ENSP00000393057.2, ENST00000418533.6
      Conserved Domains (6) summary
      smart00179
      Location:876917
      EGF_CA; Calcium-binding EGF-like domain
      PHA03247
      Location:416542
      PHA03247; large tegument protein UL36; Provisional
      cd00054
      Location:672705
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:589629
      EGF_CA; Calcium-binding EGF domain
      pfam00683
      Location:363404
      TB; TB domain
      pfam12662
      Location:570592
      cEGF; Complement Clr-like EGF-like
    3. NM_001166265.2NP_001159737.2  latent-transforming growth factor beta-binding protein 1 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform LTBP-1L.
      Source sequence(s)
      AC019127, AC019195, AC020594
      Consensus CDS
      CCDS54345.1
      UniProtKB/TrEMBL
      C9JD84
      Related
      ENSP00000385359.1, ENST00000404525.5
      Conserved Domains (5) summary
      smart00179
      Location:823864
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:619652
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:536576
      EGF_CA; Calcium-binding EGF domain
      pfam00683
      Location:9801023
      TB; TB domain
      pfam12662
      Location:517539
      cEGF; Complement Clr-like EGF-like
    4. NM_001166266.2NP_001159738.2  latent-transforming growth factor beta-binding protein 1 isoform 5 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region, and uses an alternate in-frame splice site and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (5) has a distinct N-terminus and is shorter than isoform LTBP-1L.
      Source sequence(s)
      AC019127, AC019195, AC020594
      UniProtKB/TrEMBL
      C9JD84
      Conserved Domains (5) summary
      smart00179
      Location:823864
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:619652
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:536576
      EGF_CA; Calcium-binding EGF domain
      pfam00683
      Location:938981
      TB; TB domain
      pfam12662
      Location:517539
      cEGF; Complement Clr-like EGF-like
    5. NM_001394905.1NP_001381834.1  latent-transforming growth factor beta-binding protein 1 isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC019127, AC019195, AC020594, AL133244
      Conserved Domains (5) summary
      smart00179
      Location:11491190
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:945978
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:862902
      EGF_CA; Calcium-binding EGF domain
      pfam00683
      Location:13061349
      TB; TB domain
      pfam12662
      Location:843865
      cEGF; Complement Clr-like EGF-like
    6. NM_001394906.1NP_001381835.1  latent-transforming growth factor beta-binding protein 1 isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AC019127, AC019195, AC020594
      UniProtKB/TrEMBL
      B7ZLY3
      Conserved Domains (3) summary
      smart00179
      Location:875916
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:671704
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:588628
      EGF_CA; Calcium-binding EGF domain
    7. NM_001394907.1NP_001381836.1  latent-transforming growth factor beta-binding protein 1 isoform 8 precursor

      Status: REVIEWED

      Source sequence(s)
      AC019127, AC019195, AC020594
      UniProtKB/TrEMBL
      C9JD84
      Conserved Domains (3) summary
      smart00179
      Location:847888
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:643676
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:560600
      EGF_CA; Calcium-binding EGF domain
    8. NM_001394908.1NP_001381837.1  latent-transforming growth factor beta-binding protein 1 isoform 9 precursor

      Status: REVIEWED

      Source sequence(s)
      AC019127, AC019195, AC020594
      UniProtKB/TrEMBL
      B7ZLY3
      Conserved Domains (3) summary
      smart00179
      Location:836877
      EGF_CA; Calcium-binding EGF-like domain
      PHA03247
      Location:416542
      PHA03247; large tegument protein UL36; Provisional
      pfam07645
      Location:589629
      EGF_CA; Calcium-binding EGF domain
    9. NM_001394909.1NP_001381838.1  latent-transforming growth factor beta-binding protein 1 isoform 10 precursor

      Status: REVIEWED

      Source sequence(s)
      AC019127, AC019195, AC020594
      UniProtKB/TrEMBL
      B7ZLY3
      Conserved Domains (4) summary
      smart00179
      Location:834875
      EGF_CA; Calcium-binding EGF-like domain
      PHA03247
      Location:416542
      PHA03247; large tegument protein UL36; Provisional
      cd00054
      Location:630663
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:547587
      EGF_CA; Calcium-binding EGF domain
    10. NM_001394910.1NP_001381839.1  latent-transforming growth factor beta-binding protein 1 isoform 11 precursor

      Status: REVIEWED

      Source sequence(s)
      AC019127, AC019195, AC020594
      UniProtKB/TrEMBL
      B7ZLY3
      Conserved Domains (3) summary
      smart00179
      Location:875916
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:671704
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:588628
      EGF_CA; Calcium-binding EGF domain
    11. NM_001394911.1NP_001381840.1  latent-transforming growth factor beta-binding protein 1 isoform 12 precursor

      Status: REVIEWED

      Source sequence(s)
      AC019127, AC019195, AC020594
      UniProtKB/TrEMBL
      B7ZLY3
      Conserved Domains (3) summary
      smart00179
      Location:833874
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:629662
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:546586
      EGF_CA; Calcium-binding EGF domain
    12. NM_001394912.1NP_001381841.1  latent-transforming growth factor beta-binding protein 1 isoform 13 precursor

      Status: REVIEWED

      Source sequence(s)
      AC019127, AC019195, AC020594
      UniProtKB/TrEMBL
      B7ZLY3
      Conserved Domains (4) summary
      smart00179
      Location:876917
      EGF_CA; Calcium-binding EGF-like domain
      PHA03247
      Location:416542
      PHA03247; large tegument protein UL36; Provisional
      cd00054
      Location:672705
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:589629
      EGF_CA; Calcium-binding EGF domain
    13. NM_001394913.1NP_001381842.1  latent-transforming growth factor beta-binding protein 1 isoform 14 precursor

      Status: REVIEWED

      Source sequence(s)
      AC019127, AC019195, AC020594
      UniProtKB/TrEMBL
      C9JD84
      Conserved Domains (3) summary
      smart00179
      Location:822863
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:618651
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:535575
      EGF_CA; Calcium-binding EGF domain
    14. NM_001394914.1NP_001381843.1  latent-transforming growth factor beta-binding protein 1 isoform 15 precursor

      Status: REVIEWED

      Source sequence(s)
      AC019127, AC019195, AC020594
      UniProtKB/TrEMBL
      C9JD84
      Conserved Domains (4) summary
      smart00179
      Location:806847
      EGF_CA; Calcium-binding EGF-like domain
      PRK03427
      Location:397511
      PRK03427; cell division protein ZipA; Provisional
      cd00054
      Location:602635
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:519559
      EGF_CA; Calcium-binding EGF domain
    15. NM_001394915.1NP_001381844.1  latent-transforming growth factor beta-binding protein 1 isoform 16 precursor

      Status: REVIEWED

      Source sequence(s)
      AC019127, AC019195, AC020594
      UniProtKB/TrEMBL
      B7ZLY3
      Conserved Domains (4) summary
      smart00179
      Location:848889
      EGF_CA; Calcium-binding EGF-like domain
      PRK03427
      Location:397511
      PRK03427; cell division protein ZipA; Provisional
      cd00054
      Location:644677
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:561601
      EGF_CA; Calcium-binding EGF domain
    16. NM_001394916.1NP_001381845.1  latent-transforming growth factor beta-binding protein 1 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC019127, AC019195, AC020594
      UniProtKB/TrEMBL
      B7ZLY3
      Conserved Domains (4) summary
      smart00179
      Location:795836
      EGF_CA; Calcium-binding EGF-like domain
      PHA03247
      Location:335461
      PHA03247; large tegument protein UL36; Provisional
      cd00054
      Location:591624
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:508548
      EGF_CA; Calcium-binding EGF domain
    17. NM_001394917.1NP_001381846.1  latent-transforming growth factor beta-binding protein 1 isoform 18 precursor

      Status: REVIEWED

      Source sequence(s)
      AC019127, AC019195, AC020594
      UniProtKB/TrEMBL
      B7ZLY3
      Conserved Domains (5) summary
      smart00179
      Location:834875
      EGF_CA; Calcium-binding EGF-like domain
      PHA03247
      Location:416542
      PHA03247; large tegument protein UL36; Provisional
      cd00054
      Location:630663
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:547587
      EGF_CA; Calcium-binding EGF domain
      pfam00683
      Location:363404
      TB; TB domain
    18. NM_001394918.1NP_001381847.1  latent-transforming growth factor beta-binding protein 1 isoform 19 precursor

      Status: REVIEWED

      Source sequence(s)
      AC019127, AC019195, AC020594
      UniProtKB/TrEMBL
      B7ZLY3
      Conserved Domains (4) summary
      smart00179
      Location:876917
      EGF_CA; Calcium-binding EGF-like domain
      PHA03247
      Location:416542
      PHA03247; large tegument protein UL36; Provisional
      cd00054
      Location:672705
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:589629
      EGF_CA; Calcium-binding EGF domain
    19. NM_001394919.1NP_001381848.1  latent-transforming growth factor beta-binding protein 1 isoform 20 precursor

      Status: REVIEWED

      Source sequence(s)
      AC019127, AC019195, AC020594
      UniProtKB/TrEMBL
      B7ZLY3
      Conserved Domains (3) summary
      smart00179
      Location:875916
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:671704
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:588628
      EGF_CA; Calcium-binding EGF domain
    20. NM_001394920.1NP_001381849.1  latent-transforming growth factor beta-binding protein 1 isoform 21 precursor

      Status: REVIEWED

      Source sequence(s)
      AC019127, AC019195, AC020594
      UniProtKB/TrEMBL
      C9JD84
      Conserved Domains (3) summary
      smart00179
      Location:781822
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:577610
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:494534
      EGF_CA; Calcium-binding EGF domain
    21. NM_001394921.1NP_001381850.1  latent-transforming growth factor beta-binding protein 1 isoform 22 precursor

      Status: REVIEWED

      Source sequence(s)
      AC019127, AC019195, AC020594
      UniProtKB/TrEMBL
      C9JD84
      Conserved Domains (3) summary
      smart00179
      Location:822863
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:618651
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:535575
      EGF_CA; Calcium-binding EGF domain
    22. NM_001394923.1NP_001381852.1  latent-transforming growth factor beta-binding protein 1 isoform 23 precursor

      Status: REVIEWED

      Source sequence(s)
      AC019127, AC019195, AC020594
      UniProtKB/TrEMBL
      C9JD84
      Conserved Domains (2) summary
      smart00179
      Location:741782
      EGF_CA; Calcium-binding EGF-like domain
      pfam07645
      Location:494534
      EGF_CA; Calcium-binding EGF domain
    23. NM_001394924.1NP_001381853.1  latent-transforming growth factor beta-binding protein 1 isoform 24 precursor

      Status: REVIEWED

      Source sequence(s)
      AC019127, AC019195, AC020594
      UniProtKB/TrEMBL
      C9JD84
      Conserved Domains (3) summary
      smart00179
      Location:781822
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:577610
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:494534
      EGF_CA; Calcium-binding EGF domain
    24. NM_001394925.1NP_001381854.1  latent-transforming growth factor beta-binding protein 1 isoform 25 precursor

      Status: REVIEWED

      Source sequence(s)
      AC019127, AC019195, AC020594
      UniProtKB/TrEMBL
      C9JD84
      Conserved Domains (3) summary
      smart00179
      Location:823864
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:619652
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:536576
      EGF_CA; Calcium-binding EGF domain
    25. NM_001394926.1NP_001381855.1  latent-transforming growth factor beta-binding protein 1 isoform 26 precursor

      Status: REVIEWED

      Source sequence(s)
      AC019127, AC019195, AC020594
      UniProtKB/TrEMBL
      C9JD84
      Conserved Domains (3) summary
      smart00179
      Location:781822
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:577610
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:494534
      EGF_CA; Calcium-binding EGF domain
    26. NM_001394927.1NP_001381856.1  latent-transforming growth factor beta-binding protein 1 isoform 27 precursor

      Status: REVIEWED

      Source sequence(s)
      AC019127, AC019195, AC020594
      UniProtKB/TrEMBL
      C9JD84
      Conserved Domains (3) summary
      smart00179
      Location:781822
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:577610
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:494534
      EGF_CA; Calcium-binding EGF domain
    27. NM_206943.4NP_996826.3  latent-transforming growth factor beta-binding protein 1 isoform LTBP-1L precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (LTBP-1L). There are no full-length transcripts representing this variant in human, but it is supported by overlapping partial transcripts, full-length homologous rat and mouse transcripts, and data in PMID:8537398.
      Source sequence(s)
      AC019127, AC019195, AC020594, AL133244
      Consensus CDS
      CCDS33177.2
      UniProtKB/Swiss-Prot
      A1L3V1, P22064, Q14766, Q53SD8, Q53SF3, Q53SG1, Q59HF7, Q8TD95
      Related
      ENSP00000386043.2, ENST00000404816.7
      Conserved Domains (6) summary
      smart00179
      Location:12021243
      EGF_CA; Calcium-binding EGF-like domain
      PRK03427
      Location:751865
      PRK03427; cell division protein ZipA; Provisional
      cd00054
      Location:9981031
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:915955
      EGF_CA; Calcium-binding EGF domain
      pfam00683
      Location:689730
      TB; TB domain
      pfam12662
      Location:896918
      cEGF; Complement Clr-like EGF-like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      32946953..33399509
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532853.3XP_011531155.1  latent-transforming growth factor beta-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14766
      Conserved Domains (5) summary
      smart00179
      Location:12031244
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:9991032
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:689724
      TB; TB domain
      pfam07645
      Location:916956
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:897919
      cEGF; Complement Clr-like EGF-like
    2. XM_011532857.3XP_011531159.1  latent-transforming growth factor beta-binding protein 1 isoform X5

      Conserved Domains (5) summary
      smart00179
      Location:12031244
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:9991032
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:689724
      TB; TB domain
      pfam07645
      Location:916956
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:897919
      cEGF; Complement Clr-like EGF-like
    3. XM_011532861.3XP_011531163.1  latent-transforming growth factor beta-binding protein 1 isoform X20

      Conserved Domains (5) summary
      smart00179
      Location:12031244
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:9991032
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:689724
      TB; TB domain
      pfam07645
      Location:916956
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:897919
      cEGF; Complement Clr-like EGF-like
    4. XM_011532856.3XP_011531158.1  latent-transforming growth factor beta-binding protein 1 isoform X3

      Conserved Domains (4) summary
      smart00179
      Location:11631204
      EGF_CA; Calcium-binding EGF-like domain
      pfam00683
      Location:689724
      TB; TB domain
      pfam07645
      Location:916956
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:897919
      cEGF; Complement Clr-like EGF-like
    5. XM_011532858.3XP_011531160.1  latent-transforming growth factor beta-binding protein 1 isoform X6

      Conserved Domains (4) summary
      smart00179
      Location:11611202
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:957990
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:689724
      TB; TB domain
      pfam07645
      Location:874914
      EGF_CA; Calcium-binding EGF domain
    6. XM_017004109.2XP_016859598.1  latent-transforming growth factor beta-binding protein 1 isoform X7

    7. XM_047444368.1XP_047300324.1  latent-transforming growth factor beta-binding protein 1 isoform X21

    8. XM_017004108.2XP_016859597.1  latent-transforming growth factor beta-binding protein 1 isoform X4

    9. XM_017004110.2XP_016859599.1  latent-transforming growth factor beta-binding protein 1 isoform X15

    10. XM_047444359.1XP_047300315.1  latent-transforming growth factor beta-binding protein 1 isoform X8

    11. XM_047444366.1XP_047300322.1  latent-transforming growth factor beta-binding protein 1 isoform X18

    12. XM_047444364.1XP_047300320.1  latent-transforming growth factor beta-binding protein 1 isoform X16

    13. XM_011532855.3XP_011531157.1  latent-transforming growth factor beta-binding protein 1 isoform X2

      Conserved Domains (5) summary
      smart00179
      Location:12011242
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:9971030
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:689724
      TB; TB domain
      pfam07645
      Location:914954
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:895917
      cEGF; Complement Clr-like EGF-like
    14. XM_047444360.1XP_047300316.1  latent-transforming growth factor beta-binding protein 1 isoform X9

    15. XM_047444369.1XP_047300325.1  latent-transforming growth factor beta-binding protein 1 isoform X22

    16. XM_047444365.1XP_047300321.1  latent-transforming growth factor beta-binding protein 1 isoform X17

    17. XM_047444361.1XP_047300317.1  latent-transforming growth factor beta-binding protein 1 isoform X10

    18. XM_047444367.1XP_047300323.1  latent-transforming growth factor beta-binding protein 1 isoform X19

    19. XM_011532859.3XP_011531161.1  latent-transforming growth factor beta-binding protein 1 isoform X11

      Conserved Domains (5) summary
      smart00179
      Location:11501191
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:946979
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:689723
      TB; TB domain
      pfam07645
      Location:863903
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:844866
      cEGF; Complement Clr-like EGF-like
    20. XM_047444372.1XP_047300328.1  latent-transforming growth factor beta-binding protein 1 isoform X25

    21. XM_005264318.4XP_005264375.1  latent-transforming growth factor beta-binding protein 1 isoform X26

      Conserved Domains (5) summary
      smart00179
      Location:11491190
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:945978
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:689723
      TB; TB domain
      pfam07645
      Location:862902
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:843865
      cEGF; Complement Clr-like EGF-like
    22. XM_047444381.1XP_047300337.1  latent-transforming growth factor beta-binding protein 1 isoform X35

    23. XM_047444370.1XP_047300326.1  latent-transforming growth factor beta-binding protein 1 isoform X23

    24. XM_047444377.1XP_047300333.1  latent-transforming growth factor beta-binding protein 1 isoform X31

    25. XM_047444373.1XP_047300329.1  latent-transforming growth factor beta-binding protein 1 isoform X27

    26. XM_047444379.1XP_047300335.1  latent-transforming growth factor beta-binding protein 1 isoform X33

    27. XM_047444378.1XP_047300334.1  latent-transforming growth factor beta-binding protein 1 isoform X32

    28. XM_047444362.1XP_047300318.1  latent-transforming growth factor beta-binding protein 1 isoform X12

    29. XM_047444374.1XP_047300330.1  latent-transforming growth factor beta-binding protein 1 isoform X28

    30. XM_047444371.1XP_047300327.1  latent-transforming growth factor beta-binding protein 1 isoform X24

    31. XM_047444380.1XP_047300336.1  latent-transforming growth factor beta-binding protein 1 isoform X34

    32. XM_011532860.3XP_011531162.1  latent-transforming growth factor beta-binding protein 1 isoform X13

      Conserved Domains (5) summary
      smart00179
      Location:11471188
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:943976
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:633668
      TB; TB domain
      pfam07645
      Location:860900
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:841863
      cEGF; Complement Clr-like EGF-like
    33. XM_047444363.1XP_047300319.1  latent-transforming growth factor beta-binding protein 1 isoform X14

    34. XM_047444375.1XP_047300331.1  latent-transforming growth factor beta-binding protein 1 isoform X29

    35. XM_047444376.1XP_047300332.1  latent-transforming growth factor beta-binding protein 1 isoform X30

    36. XM_047444382.1XP_047300338.1  latent-transforming growth factor beta-binding protein 1 isoform X36

    37. XM_047444383.1XP_047300339.1  latent-transforming growth factor beta-binding protein 1 isoform X37

      UniProtKB/TrEMBL
      C9JD84
    38. XM_047444384.1XP_047300340.1  latent-transforming growth factor beta-binding protein 1 isoform X38

      UniProtKB/TrEMBL
      C9JD84

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      32992680..33445650
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342045.1XP_054198020.1  latent-transforming growth factor beta-binding protein 1 isoform X1

    2. XM_054342049.1XP_054198024.1  latent-transforming growth factor beta-binding protein 1 isoform X5

    3. XM_054342064.1XP_054198039.1  latent-transforming growth factor beta-binding protein 1 isoform X20

    4. XM_054342047.1XP_054198022.1  latent-transforming growth factor beta-binding protein 1 isoform X3

    5. XM_054342050.1XP_054198025.1  latent-transforming growth factor beta-binding protein 1 isoform X6

    6. XM_054342051.1XP_054198026.1  latent-transforming growth factor beta-binding protein 1 isoform X7

    7. XM_054342065.1XP_054198040.1  latent-transforming growth factor beta-binding protein 1 isoform X21

    8. XM_054342048.1XP_054198023.1  latent-transforming growth factor beta-binding protein 1 isoform X4

    9. XM_054342059.1XP_054198034.1  latent-transforming growth factor beta-binding protein 1 isoform X15

    10. XM_054342052.1XP_054198027.1  latent-transforming growth factor beta-binding protein 1 isoform X8

    11. XM_054342062.1XP_054198037.1  latent-transforming growth factor beta-binding protein 1 isoform X18

    12. XM_054342060.1XP_054198035.1  latent-transforming growth factor beta-binding protein 1 isoform X16

    13. XM_054342046.1XP_054198021.1  latent-transforming growth factor beta-binding protein 1 isoform X2

    14. XM_054342053.1XP_054198028.1  latent-transforming growth factor beta-binding protein 1 isoform X9

    15. XM_054342066.1XP_054198041.1  latent-transforming growth factor beta-binding protein 1 isoform X22

    16. XM_054342061.1XP_054198036.1  latent-transforming growth factor beta-binding protein 1 isoform X17

    17. XM_054342054.1XP_054198029.1  latent-transforming growth factor beta-binding protein 1 isoform X10

    18. XM_054342063.1XP_054198038.1  latent-transforming growth factor beta-binding protein 1 isoform X19

    19. XM_054342055.1XP_054198030.1  latent-transforming growth factor beta-binding protein 1 isoform X11

    20. XM_054342069.1XP_054198044.1  latent-transforming growth factor beta-binding protein 1 isoform X25

    21. XM_054342070.1XP_054198045.1  latent-transforming growth factor beta-binding protein 1 isoform X26

    22. XM_054342079.1XP_054198054.1  latent-transforming growth factor beta-binding protein 1 isoform X35

    23. XM_054342067.1XP_054198042.1  latent-transforming growth factor beta-binding protein 1 isoform X23

    24. XM_054342075.1XP_054198050.1  latent-transforming growth factor beta-binding protein 1 isoform X31

    25. XM_054342071.1XP_054198046.1  latent-transforming growth factor beta-binding protein 1 isoform X27

    26. XM_054342077.1XP_054198052.1  latent-transforming growth factor beta-binding protein 1 isoform X33

    27. XM_054342076.1XP_054198051.1  latent-transforming growth factor beta-binding protein 1 isoform X32

    28. XM_054342056.1XP_054198031.1  latent-transforming growth factor beta-binding protein 1 isoform X12

    29. XM_054342072.1XP_054198047.1  latent-transforming growth factor beta-binding protein 1 isoform X28

    30. XM_054342068.1XP_054198043.1  latent-transforming growth factor beta-binding protein 1 isoform X24

    31. XM_054342078.1XP_054198053.1  latent-transforming growth factor beta-binding protein 1 isoform X34

    32. XM_054342057.1XP_054198032.1  latent-transforming growth factor beta-binding protein 1 isoform X13

    33. XM_054342058.1XP_054198033.1  latent-transforming growth factor beta-binding protein 1 isoform X14

    34. XM_054342073.1XP_054198048.1  latent-transforming growth factor beta-binding protein 1 isoform X29

    35. XM_054342074.1XP_054198049.1  latent-transforming growth factor beta-binding protein 1 isoform X30

    36. XM_054342080.1XP_054198055.1  latent-transforming growth factor beta-binding protein 1 isoform X36

    37. XM_054342081.1XP_054198056.1  latent-transforming growth factor beta-binding protein 1 isoform X37

      UniProtKB/TrEMBL
      C9JD84
    38. XM_054342082.1XP_054198057.1  latent-transforming growth factor beta-binding protein 1 isoform X38

      UniProtKB/TrEMBL
      C9JD84