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ITGAE integrin subunit alpha E [ Homo sapiens (human) ]

Gene ID: 3682, updated on 5-Mar-2019

Summary

Official Symbol
ITGAEprovided by HGNC
Official Full Name
integrin subunit alpha Eprovided by HGNC
Primary source
HGNC:HGNC:6147
See related
Ensembl:ENSG00000083457 MIM:604682
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
CD103; HUMINAE
Summary
Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in bone marrow (RPKM 3.1), small intestine (RPKM 2.6) and 25 other tissues See more
Orthologs

Genomic context

See ITGAE in Genome Data Viewer
Location:
17p13.2
Exon count:
32
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (3714625..3803766, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (3617919..3704537, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene P2RX5-TAX1BP3 readthrough (NMD candidate) Neighboring gene ER membrane protein complex subunit 6 Neighboring gene purinergic receptor P2X 5 Neighboring gene histone H3 associated protein kinase Neighboring gene nonconserved acetylation island sequence 85 enhancer Neighboring gene nuclear cap binding subunit 3 Neighboring gene calcium/calmodulin dependent protein kinase kinase 1

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC141996

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
integrin-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
integrin complex IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
integrin alpha-E
Names
HML-1 antigen
antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide
human mucosal lymphocyte antigen 1, alpha polypeptide
integrin alpha-IEL
integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)
mucosal lymphocyte 1 antigen

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.

mRNA and Protein(s)

  1. NM_002208.5NP_002199.3  integrin alpha-E precursor

    See identical proteins and their annotated locations for NP_002199.3

    Status: REVIEWED

    Source sequence(s)
    AC116914, L25851
    Consensus CDS
    CCDS32531.1
    UniProtKB/Swiss-Prot
    P38570
    Related
    ENSP00000263087.4, ENST00000263087.8
    Conserved Domains (3) summary
    smart00191
    Location:574633
    Int_alpha; Integrin alpha (beta-propellor repeats)
    cd01469
    Location:201378
    vWA_integrins_alpha_subunit; Integrins are a class of adhesion receptors that link the extracellular matrix to the cytoskeleton and cooperate with growth factor receptors to promote celll survival, cell cycle progression and cell migration. Integrins consist of an alpha and a beta ...
    pfam08441
    Location:676997
    Integrin_alpha2; Integrin alpha

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    3714625..3803766 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024586.1XP_016880075.1  integrin alpha-E isoform X2

    Conserved Domains (3) summary
    smart00191
    Location:591650
    Int_alpha; Integrin alpha (beta-propellor repeats)
    cd01469
    Location:218395
    vWA_integrins_alpha_subunit; Integrins are a class of adhesion receptors that link the extracellular matrix to the cytoskeleton and cooperate with growth factor receptors to promote celll survival, cell cycle progression and cell migration. Integrins consist of an alpha and a beta ...
    pfam08441
    Location:6931009
    Integrin_alpha2; Integrin alpha
  2. XM_024450740.1XP_024306508.1  integrin alpha-E isoform X1

    Conserved Domains (3) summary
    smart00191
    Location:591650
    Int_alpha; Integrin alpha (beta-propellor repeats)
    cd01469
    Location:218395
    vWA_integrins_alpha_subunit; Integrins are a class of adhesion receptors that link the extracellular matrix to the cytoskeleton and cooperate with growth factor receptors to promote celll survival, cell cycle progression and cell migration. Integrins consist of an alpha and a beta ...
    pfam08441
    Location:693942
    Integrin_alpha2; Integrin alpha
  3. XM_011523825.3XP_011522127.1  integrin alpha-E isoform X3

    Conserved Domains (3) summary
    smart00191
    Location:591650
    Int_alpha; Integrin alpha (beta-propellor repeats)
    cd01469
    Location:218395
    vWA_integrins_alpha_subunit; Integrins are a class of adhesion receptors that link the extracellular matrix to the cytoskeleton and cooperate with growth factor receptors to promote celll survival, cell cycle progression and cell migration. Integrins consist of an alpha and a beta ...
    pfam08441
    Location:693942
    Integrin_alpha2; Integrin alpha
  4. XM_011523828.3XP_011522130.1  integrin alpha-E isoform X5

    Conserved Domains (3) summary
    smart00191
    Location:591650
    Int_alpha; Integrin alpha (beta-propellor repeats)
    cd01469
    Location:218395
    vWA_integrins_alpha_subunit; Integrins are a class of adhesion receptors that link the extracellular matrix to the cytoskeleton and cooperate with growth factor receptors to promote celll survival, cell cycle progression and cell migration. Integrins consist of an alpha and a beta ...
    pfam08441
    Location:693922
    Integrin_alpha2; Integrin alpha
  5. XM_011523827.3XP_011522129.1  integrin alpha-E isoform X4

    Conserved Domains (3) summary
    smart00191
    Location:591650
    Int_alpha; Integrin alpha (beta-propellor repeats)
    cd01469
    Location:218395
    vWA_integrins_alpha_subunit; Integrins are a class of adhesion receptors that link the extracellular matrix to the cytoskeleton and cooperate with growth factor receptors to promote celll survival, cell cycle progression and cell migration. Integrins consist of an alpha and a beta ...
    pfam08441
    Location:693922
    Integrin_alpha2; Integrin alpha
  6. XM_017024587.1XP_016880076.1  integrin alpha-E isoform X6

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