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

Gene ID: 9358, updated on 2-Nov-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
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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 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)

Genotypes

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

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