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ITGA8 integrin subunit alpha 8 [ Homo sapiens (human) ]

Gene ID: 8516, updated on 1-Jun-2020

Summary

Official Symbol
ITGA8provided by HGNC
Official Full Name
integrin subunit alpha 8provided by HGNC
Primary source
HGNC:HGNC:6144
See related
Ensembl:ENSG00000077943 MIM:604063
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
Summary
Integrins are heterodimeric transmembrane receptor proteins that mediate numerous cellular processes including cell adhesion, cytoskeletal rearrangement, and activation of cell signaling pathways. Integrins are composed of alpha and beta subunits. This gene encodes the alpha 8 subunit of the heterodimeric integrin alpha8beta1 protein. The encoded protein is a single-pass type 1 membrane protein that contains multiple FG-GAP repeats. This repeat is predicted to fold into a beta propeller structure. This gene regulates the recruitment of mesenchymal cells into epithelial structures, mediates cell-cell interactions, and regulates neurite outgrowth of sensory and motor neurons. The integrin alpha8beta1 protein thus plays an important role in wound-healing and organogenesis. Mutations in this gene have been associated with renal hypodysplasia/aplasia-1 (RHDA1) and with several animal models of chronic kidney disease. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2014]
Expression
Broad expression in prostate (RPKM 17.7), lung (RPKM 11.8) and 17 other tissues See more
Orthologs

Genomic context

See ITGA8 in Genome Data Viewer
Location:
10p13
Exon count:
31
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (15513949..15720335, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (15557711..15762328, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376433 Neighboring gene family with sequence similarity 171 member A1 Neighboring gene Sharpr-MPRA regulatory region 6046 Neighboring gene Sharpr-MPRA regulatory region 12763 Neighboring gene Sharpr-MPRA regulatory region 7083 Neighboring gene MINDY lysine 48 deubiquitinase 3 Neighboring gene ferritin light chain pseudogene 19

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
Renal hypodysplasia/aplasia 1
MedGen: C1619700 OMIM: 191830 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
NHGRI GWA Catalog
Genome-wide association study of chronic periodontitis in a general German population.
NHGRI GWA Catalog
Genome-wide association study reveals genetic risk underlying Parkinson's disease.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of integrin, alpha 8 (ITGA8) in primary human brain microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
brain development IEA
Inferred from Electronic Annotation
more info
 
cell projection organization IEA
Inferred from Electronic Annotation
more info
 
cell-cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell-matrix adhesion NAS
Non-traceable Author Statement
more info
PubMed 
establishment of protein localization IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
integrin-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
kidney development IMP
Inferred from Mutant Phenotype
more info
PubMed 
memory IEA
Inferred from Electronic Annotation
more info
 
mesodermal cell differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
metanephros development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transforming growth factor beta receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
smooth muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
substrate adhesion-dependent cell spreading IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
apical part of cell IEA
Inferred from Electronic Annotation
more info
 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
dendritic spine membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
focal adhesion HDA PubMed 
integrin alpha8-beta1 complex TAS
Traceable Author Statement
more info
PubMed 
integrin complex TAS
Traceable Author Statement
more info
PubMed 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
integrin alpha-8
Names
integrin, alpha 8

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_034116.1 RefSeqGene

    Range
    5414..211382
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001291494.1NP_001278423.1  integrin alpha-8 isoform 2 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. It encodes a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AK297740, AL590636, BU735798, DB237365, DC425586
    UniProtKB/TrEMBL
    B4DN28
    Conserved Domains (3) summary
    smart00191
    Location:368422
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam00357
    Location:10201034
    Integrin_alpha; Integrin alpha cytoplasmic region
    pfam08441
    Location:468919
    Integrin_alpha2; Integrin alpha
  2. NM_003638.3NP_003629.2  integrin alpha-8 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_003629.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK297740, AL590636, BU735798, DB237365, DC425586, L36531
    Consensus CDS
    CCDS31155.1
    UniProtKB/Swiss-Prot
    P53708
    UniProtKB/TrEMBL
    B4DN28
    Related
    ENSP00000367316.3, ENST00000378076.4
    Conserved Domains (3) summary
    smart00191
    Location:383437
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam00357
    Location:10351049
    Integrin_alpha; Integrin alpha cytoplasmic region
    pfam08441
    Location:483934
    Integrin_alpha2; Integrin alpha

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    15513949..15720335 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519752.2XP_011518054.1  integrin alpha-8 isoform X1

    Conserved Domains (2) summary
    smart00191
    Location:383437
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:483797
    Integrin_alpha2; Integrin alpha
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