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    Ltbp4 latent transforming growth factor beta binding protein 4 [ Mus musculus (house mouse) ]

    Gene ID: 108075, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Ltbp4provided by MGI
    Official Full Name
    latent transforming growth factor beta binding protein 4provided by MGI
    Primary source
    MGI:MGI:1321395
    See related
    Ensembl:ENSMUSG00000040488 AllianceGenome:MGI:1321395
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    2310046A13Rik
    Summary
    Predicted to enable transforming growth factor beta binding activity. Involved in elastic fiber assembly. Acts upstream of or within hormone secretion and transforming growth factor beta receptor signaling pathway. Located in microfibril. Is expressed in aorta; blood vessel; ovary; and oviduct. Used to study cutis laxa. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IC. Orthologous to human LTBP4 (latent transforming growth factor beta binding protein 4). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in lung adult (RPKM 180.5), ovary adult (RPKM 138.8) and 17 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ltbp4 in Genome Data Viewer
    Location:
    7 A3; 7 15.87 cM
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (27004566..27039142, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (27305140..27339720, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E2229 Neighboring gene coenzyme Q8B Neighboring gene STARR-positive B cell enhancer ABC_E4906 Neighboring gene numb-like Neighboring gene ribosomal protein L14 pseudogene Neighboring gene STARR-seq mESC enhancer starr_18356 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:28101108-28101366 Neighboring gene STARR-positive B cell enhancer ABC_E4907 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:28117793-28117976 Neighboring gene predicted gene, 30543 Neighboring gene STARR-positive B cell enhancer ABC_E1726 Neighboring gene STARR-positive B cell enhancer ABC_E1727 Neighboring gene Sh3kbp1 binding protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E2820 Neighboring gene spectrin beta, non-erythrocytic 4 Neighboring gene STARR-seq mESC enhancer starr_18360 Neighboring gene STARR-positive B cell enhancer ABC_E4908

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Fibulin-4 exerts a dual role in LTBP-4L-mediated matrix assembly and function. Kumra H, et al. Proc Natl Acad Sci U S A, 2019 Oct 8. PMID 31548410, Free PMC Article
    2. LTBP4 Protects Against Renal Fibrosis via Mitochondrial and Vascular Impacts. Su CT, et al. Circ Res, 2023 Jun 23. PMID 37232163
    3. Enhanced Muscular Dystrophy from Loss of Dysferlin Is Accompanied by Impaired Annexin A6 Translocation after Sarcolemmal Disruption. Demonbreun AR, et al. Am J Pathol, 2016 Jun. PMID 27070822, Free PMC Article
    4. Latent TGF-β binding protein 4 promotes elastic fiber assembly by interacting with fibulin-5. Noda K, et al. Proc Natl Acad Sci U S A, 2013 Feb 19. PMID 23382201, Free PMC Article
    5. Latent transforming growth factor binding protein 4 (LTBP4) is downregulated in mouse and human DCIS and mammary carcinomas. Kretschmer C, et al. Cell Oncol (Dordr), 2011 Oct. PMID 21468687, Free PMC Article

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LTBP4 Protects Against Renal Fibrosis via Mitochondrial and Vascular Impacts.
      Title: LTBP4 Protects Against Renal Fibrosis via Mitochondrial and Vascular Impacts.
    2. LTBP4 affects renal fibrosis by influencing angiogenesis and altering mitochondrial structure.
      Title: LTBP4 affects renal fibrosis by influencing angiogenesis and altering mitochondrial structure.
    3. an AMPK-LTBP4 axis in inflammatory macrophages controls the production of TGF-beta1, which is further activated by and acts on fibroblastic cells, leading to fibrosis in Duchenne muscular dystrophy.
      Title: AMPK Activation Regulates LTBP4-Dependent TGF-β1 Secretion by Pro-inflammatory Macrophages and Controls Fibrosis in Duchenne Muscular Dystrophy.
    4. These data suggest that LTBP-2 and -4 have critical overlapping functions in forming the robust structure of microfibrils in vitro and in vivo.
      Title: Latent TGF-β binding protein 2 and 4 have essential overlapping functions in microfibril development.
    5. Ltbp4 regulates Pdgfrb expression via TGFbeta-dependent modulation of Nrf2 transcription factor function.
      Title: Ltbp4 regulates Pdgfrβ expression via TGFβ-dependent modulation of Nrf2 transcription factor function.
    6. These data clearly establish a functional link between Ltbp-4L and fibulin-4 as a crucial molecular requirement for survival and elastogenesis in mice.
      Title: Function of Ltbp-4L and fibulin-4 in survival and elastogenesis in mice.
    7. Anxa6 and Ltbp4 isoforms modify the extent of damage in acute muscle injury in an additive fashion, and the severe isoform of Ltbp4, characteristic of the DBA/2J genetic background, correlated with upregulation of Slug and Snail, and downregulation of Anxa1 and Anxa6.
      Title: Genetic modifiers of muscular dystrophy act on sarcolemmal resealing and recovery from injury.
    8. Low LTBP4 expression is associated with lung fibrosis.
      Title: Role of LTBP4 in alveolarization, angiogenesis, and fibrosis in lungs.
    9. we found that myostatin forms a complex with LTBP4 and that overexpression of LTBP4 led to a decrease in myostatin levels. LTBP4 also interacted with TGFbeta and GDF11, a protein highly related to myostatin. These data identify LTBP4 as a multi-TGFbeta family ligand binding protein with the capacity to modify muscle disease through overexpression
      Title: Overexpression of Latent TGFβ Binding Protein 4 in Muscle Ameliorates Muscular Dystrophy through Myostatin and TGFβ.
    10. Ltbp-4L expression is essential for incorporation of fibulin-4 into the extracellular matrix.
      Title: Modeling autosomal recessive cutis laxa type 1C in mice reveals distinct functions for Ltbp-4 isoforms.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC175966

    Gene Ontology Provided by MGI

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transforming growth factor beta binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transforming growth factor beta binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transforming growth factor beta binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in elastic fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within hormone secretion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in collagen-containing extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in collagen-containing extracellular matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in extracellular matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microfibril IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    latent-transforming growth factor beta-binding protein 4
    Names
    LTBP-4

    NCBI Reference Sequences (RefSeq)

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    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_001113549.1 → NP_001107021.1  latent-transforming growth factor beta-binding protein 4 isoform b precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AF410799, BC059016, BP765237, BY740857
      Consensus CDS
      CCDS52158.1
      UniProtKB/TrEMBL
      D3Z598
      Related
      ENSMUSP00000113674.2, ENSMUST00000121175.8
      Conserved Domains (4) summary
      smart00179
      Location:854 → 890
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:811 → 843
      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:351 → 386
      TB; TB domain
      pfam12662
      Location:544 → 567
      cEGF; Complement Clr-like EGF-like

    2. NM_001310678.1 → NP_001297607.1  latent-transforming growth factor beta-binding protein 4 isoform 3 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in both the 5' and 3' UTRs and coding region compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus and a shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC157561, AK147753
      Consensus CDS
      CCDS80683.1
      UniProtKB/TrEMBL
      Q3UGU1
      Related
      ENSMUST00000206413.2
      Conserved Domains (4) summary
      smart00179
      Location:854 → 890
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:811 → 843
      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:351 → 386
      TB; TB domain
      pfam12662
      Location:544 → 567
      cEGF; Complement Clr-like EGF-like

    3. NM_175641.2 → NP_783572.2  latent-transforming growth factor beta-binding protein 4 isoform a precursor

      See identical proteins and their annotated locations for NP_783572.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AF410798, BC059016, BP765237
      Consensus CDS
      CCDS21017.1
      UniProtKB/Swiss-Prot
      E9QPD9, Q8K4G0, Q8K4G1
      UniProtKB/TrEMBL
      B2RU79
      Related
      ENSMUSP00000037536.7, ENSMUST00000038618.13
      Conserved Domains (5) summary
      smart00179
      Location:920 → 956
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:877 → 909
      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:417 → 458
      TB; TB domain
      pfam12662
      Location:610 → 633
      cEGF; Complement Clr-like EGF-like
      cl21504
      Location:1133 → 1161
      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 ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      27004566..27039142 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006539458.4 → XP_006539521.1  latent-transforming growth factor beta-binding protein 4 isoform X3

      UniProtKB/TrEMBL
      B2RU79
      Conserved Domains (4) summary
      smart00179
      Location:793 → 829
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:750 → 782
      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:290 → 332
      TB; TB domain
      pfam12662
      Location:483 → 506
      cEGF; Complement Clr-like EGF-like

    2. XM_030241972.2 → XP_030097832.1  latent-transforming growth factor beta-binding protein 4 isoform X4

      UniProtKB/TrEMBL
      D3Z598
      Conserved Domains (4) summary
      smart00179
      Location:728 → 764
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:685 → 717
      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:225 → 267
      TB; TB domain
      pfam12662
      Location:418 → 441
      cEGF; Complement Clr-like EGF-like

    3. XM_006539457.5 → XP_006539520.1  latent-transforming growth factor beta-binding protein 4 isoform X2

      UniProtKB/TrEMBL
      B2RU79
      Conserved Domains (4) summary
      smart00179
      Location:920 → 956
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:877 → 909
      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:417 → 459
      TB; TB domain
      pfam12662
      Location:610 → 633
      cEGF; Complement Clr-like EGF-like

    4. XM_036152563.1 → XP_036008456.1  latent-transforming growth factor beta-binding protein 4 isoform X1

      UniProtKB/TrEMBL
      B2RU79
      Conserved Domains (4) summary
      smart00179
      Location:889 → 925
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:846 → 878
      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:386 → 428
      TB; TB domain
      pfam12662
      Location:579 → 602
      cEGF; Complement Clr-like EGF-like
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K4G1.2 GenPept UniProtKB/Swiss-Prot:Q8K4G1

    Gene LinkOut

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