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    ITGBL1 integrin subunit beta like 1 [ Homo sapiens (human) ]

    Gene ID: 9358, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ITGBL1provided by HGNC
    Official Full Name
    integrin subunit beta like 1provided by HGNC
    Primary source
    HGNC:HGNC:6164
    See related
    Ensembl:ENSG00000198542 MIM:604234; AllianceGenome:HGNC:6164
    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
    OSCP; TIED
    Summary
    This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
    Expression
    Broad expression in gall bladder (RPKM 11.4), lung (RPKM 9.5) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ITGBL1 in Genome Data Viewer
    Location:
    13q33.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (101452675..101720856)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (100667841..100936857)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (102105026..102373206)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene NALCN antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 411 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:101698875-101699376 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:101701141-101702340 Neighboring gene uncharacterized LOC124903202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:101717146-101717646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:101717647-101718147 Neighboring gene sodium leak channel, non-selective Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:101909917-101911116 Neighboring gene NANOG hESC enhancer GRCh37_chr13:101986545-101987100 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:102067660-102068210 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:102068211-102068761 Neighboring gene Sharpr-MPRA regulatory region 15039 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:102102071-102103270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:102104604-102105108 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:102126208-102126708 Neighboring gene Sharpr-MPRA regulatory region 3234 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:102341159-102341390 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:102360299-102360823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7963 Neighboring gene NANOG hESC enhancer GRCh37_chr13:102403785-102404286 Neighboring gene fibroblast growth factor 14 Neighboring gene RNA, U1 small nuclear 24, pseudogene Neighboring gene high mobility group box 3 pseudogene 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. A comprehensive analysis of potential gastric cancer prognostic biomarker ITGBL1 associated with immune infiltration and epithelial-mesenchymal transition. Wang Z, et al. Biomed Eng Online, 2022 May 20. PMID 35596183, Free PMC Article
    2. Cloning and characterization of a novel beta integrin-related cDNA coding for the protein TIED ("ten beta integrin EGF-like repeat domains") that maps to chromosome band 13q33: A divergent stand-alone integrin stalk structure. Berg RW, et al. Genomics, 1999 Mar 1. PMID 10051402
    3. Definition of EGF-like, closely interacting modules that bear activation epitopes in integrin beta subunits. Takagi J, et al. Proc Natl Acad Sci U S A, 2001 Sep 25. PMID 11572973, Free PMC Article
    4. Identification of two novel chromosome regions associated with isolated growth hormone deficiency. Cody JD, et al. J Pediatr Endocrinol Metab, 2010 Nov. PMID 21284329
    5. Mid-gestational gene expression profile in placenta and link to pregnancy complications. Uusküla L, et al. PLoS One, 2012. PMID 23145134, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ITGBL1 promotes anoikis resistance and metastasis in human gastric cancer via the AKT/FBLN2 axis.
      Title: ITGBL1 promotes anoikis resistance and metastasis in human gastric cancer via the AKT/FBLN2 axis.
    2. A comprehensive analysis of potential gastric cancer prognostic biomarker ITGBL1 associated with immune infiltration and epithelial-mesenchymal transition.
      Title: A comprehensive analysis of potential gastric cancer prognostic biomarker ITGBL1 associated with immune infiltration and epithelial-mesenchymal transition.
    3. ITGBL1 transcriptionally inhibited by JDP2 promotes the development of pancreatic cancer through the TGF-beta/Smad pathway.
      Title: ITGBL1 transcriptionally inhibited by JDP2 promotes the development of pancreatic cancer through the TGF-beta/Smad pathway.
    4. Integrin beta-like 1 protein (ITGBL1) promotes cell migration by preferentially inhibiting integrin-ECM binding at the trailing edge.
      Title: Integrin β-like 1 protein (ITGBL1) promotes cell migration by preferentially inhibiting integrin-ECM binding at the trailing edge.
    5. Screening differentially expressed genes between endometriosis and ovarian cancer to find new biomarkers for endometriosis.
      Title: Screening differentially expressed genes between endometriosis and ovarian cancer to find new biomarkers for endometriosis.
    6. ITGBL1 promotes gastric cancer cell proliferation and invasion via Akt signal pathway.
      Title: ITGBL1 promotes gastric cancer cell proliferation and invasion via Akt signal pathway.
    7. ITGBL1 is a new immunomodulator that favors development of melanoma tumors by inhibiting natural killer cells cytotoxicity.
      Title: ITGBL1 is a new immunomodulator that favors development of melanoma tumors by inhibiting natural killer cells cytotoxicity.
    8. ITGBL1 could be a promising prognostic biomarker, as well as a potential therapeutic target in HCC.
      Title: ITGBL1 promotes cell migration and invasion through stimulating the TGF-β signalling pathway in hepatocellular carcinoma.
    9. the primary colorectal cancer-derived ITGBL1-enriched extracellular vesicles stimulate the TNFAIP3-mediated NF-kappaB signaling pathway to activate fibroblasts.
      Title: Primary tumors release ITGBL1-rich extracellular vesicles to promote distal metastatic tumor growth through fibroblast-niche formation.
    10. Our findings indicate that upregulation of ITGBL1 has important clinical significance and drives chemoresistance in ovarian cancer. Detection and depletion of ITGBL1 might be the potential approaches for diagnosis and therapy for ovarian cancer patients.
      Title: Upregulation of ITGBL1 predicts poor prognosis and promotes chemoresistance in ovarian cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (20)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
    EBI GWAS Catalog
    Genome-wide association study of atypical psychosis.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables integrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cell adhesion mediated by integrin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-matrix adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in integrin-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in focal adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of integrin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    integrin beta-like protein 1
    Names
    integrin beta like 1
    integrin, beta-like 1 (with EGF-like repeat domains)
    osteoblast-specific cysteine-rich protein
    ten integrin EGF-like repeat domain-containing protein

    NCBI Reference Sequences (RefSeq)

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    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_001271754.2 → NP_001258683.1  integrin beta-like protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001258683.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon in the 5' coding region, differs in the 3' UTR, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AK026784, AK297744, AL160153, AL359052, AL527690, BC036788, BQ014290, CD110646, DA863037
      Consensus CDS
      CCDS61362.1
      UniProtKB/TrEMBL
      B4DN32
      Related
      ENSP00000439903.1, ENST00000545560.6

    2. NM_001271755.2 → NP_001258684.1  integrin beta-like protein 1 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL139800, AL160153, AL355807
      Consensus CDS
      CCDS73594.1
      UniProtKB/TrEMBL
      A0A087WY35
      Related
      ENSP00000481484.1, ENST00000618057.4

    3. NM_001271756.2 → NP_001258685.1  integrin beta-like protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001258685.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and represents use of an alternate promoter, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AL139800, AL160153, AL355807
      Consensus CDS
      CCDS61361.1
      UniProtKB/TrEMBL
      O14549
      Related
      ENSP00000365332.3, ENST00000376162.7

    4. NM_004791.3 → NP_004782.1  integrin beta-like protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_004782.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL139800, AL160153, AL355807
      Consensus CDS
      CCDS9499.1
      UniProtKB/Swiss-Prot
      A8K5M5, B3KTP1, B4DQ02, O95965, Q8N172, Q9NPR0
      Related
      ENSP00000365351.3, ENST00000376180.8

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      101452675..101720856
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      100667841..100936857
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95965.1 GenPept UniProtKB/Swiss-Prot:O95965

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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