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

Gene ID: 8516, updated on 4-May-2015
Official Symbol
ITGA8provided by HGNC
Official Full Name
integrin, alpha 8provided by HGNC
Primary source
HGNC:HGNC:6144
See related
Ensembl:ENSG00000077943; HPRD:10361; MIM:604063; Vega:OTTHUMG00000017733
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]
Orthologs
See ITGA8 in MapViewer
Location:
10p13
Exon count:
31
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 LOC105376434 Neighboring gene uncharacterized LOC105376433 Neighboring gene family with sequence similarity 171, member A1 Neighboring gene uncharacterized LOC101928678 Neighboring gene family with sequence similarity 188, member A Neighboring gene ferritin, light polypeptide pseudogene 19

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Renal adysplasia
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

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

  • Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystem (from WikiPathways)
    Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
    Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
  • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
    Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
  • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
    Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Dilated cardiomyopathy, conserved biosystem (from KEGG)
    Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • ECM proteoglycans, organism-specific biosystem (from REACTOME)
    ECM proteoglycans, organism-specific biosystemProteoglycans are major components of the extracellular matrix. In cartilage the matrix constitutes more than 90% of tissue dry weight. Proteoglycans are proteins substituted with glycosaminoglycans ...
  • ECM-receptor interaction, organism-specific biosystem (from KEGG)
    ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
  • ECM-receptor interaction, conserved biosystem (from KEGG)
    ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
  • Elastic fibre formation, organism-specific biosystem (from REACTOME)
    Elastic fibre formation, organism-specific biosystemElastic fibres (EF) are a major structural constituent of dynamic connective tissues such as large arteries and lung parenchyma, where they provide essential properties of elastic recoil and resilien...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Focal Adhesion, organism-specific biosystem (from WikiPathways)
    Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, organism-specific biosystem (from KEGG)
    Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, conserved biosystem (from KEGG)
    Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Integrin cell surface interactions, organism-specific biosystem (from REACTOME)
    Integrin cell surface interactions, organism-specific biosystemThe extracellular matrix (ECM) is a network of macro-molecules that underlies all epithelia and endothelia and that surrounds all connective tissue cells. This matrix provides the mechanical strength...
  • Integrin-mediated cell adhesion, organism-specific biosystem (from WikiPathways)
    Integrin-mediated cell adhesion, organism-specific biosystemIntegrins are receptors that mediate attachment between a cell and the tissues surrounding it, which may be other cells or the extracellular matrix (ECM). They also play a role in cell signaling and ...
  • Molecules associated with elastic fibres, organism-specific biosystem (from REACTOME)
    Molecules associated with elastic fibres, organism-specific biosystemProteins found associated with microfibrils include vitronectin (Dahlback et al. 1990), latent transforming growth factor beta-binding proteins (Kielty et al. 2002, Munger & Sheppard 2011), emilin (B...
  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
    Regulation of actin cytoskeleton, organism-specific biosystem
    Regulation of actin cytoskeleton
  • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
    Regulation of actin cytoskeleton, conserved biosystem
    Regulation of actin cytoskeleton
Products Interactant Other Gene Complex Source Pubs Description

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-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
 
single organismal cell-cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
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
 
Preferred Names
integrin alpha-8
Names
integrin alpha-8

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
    5001..211387
    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_003638.2NP_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/TrEMBL
    B4DN28
    UniProtKB/Swiss-Prot
    P53708
    Related
    ENSP00000367316, OTTHUMP00000019207, ENST00000378076, OTTHUMT00000046987
    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 Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011519752.1XP_011518054.1  

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

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 Alternate CHM1_1.1

    Range
    15556070..15762384
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)