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

Gene ID: 3682, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:6147
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
mouse all
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Genomic context

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See ITGAE in Genome Data Viewer
Location:
17p13.2
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (3714628..3801188, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (3603214..3689865, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (3617922..3704482, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene P2RX5-TAX1BP3 readthrough (NMD candidate) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3570666-3571197 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:3571198-3571728 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8017 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3572261-3572791 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3572792-3573322 Neighboring gene ribosomal protein L21 pseudogene 125 Neighboring gene Tax1 binding protein 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3591902-3592810 Neighboring gene ER membrane protein complex subunit 6 Neighboring gene purinergic receptor P2X 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11513 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3598520-3599036 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8018 Neighboring gene MPRA-validated peak2690 silencer Neighboring gene MPRA-validated peak2691 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:3627127-3627882 Neighboring gene Sharpr-MPRA regulatory region 669 Neighboring gene histone H3 associated protein kinase Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:3658435-3659138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11517 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3697478-3698200 Neighboring gene nonconserved acetylation island sequence 85 enhancer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3701060-3701958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11521 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3716184-3716689 Neighboring gene nuclear cap binding subunit 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:3735506-3735685 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8020 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8021 Neighboring gene uncharacterized LOC124903897

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. Diagnostic Value of the CD103+CD4+/CD4+ Ratio to Differentiate Sarcoidosis from Other Causes of Lymphocytic Alveolitis. Bretagne L, et al. Respiration, 2016. PMID 27230039
  2. CD103 (αE Integrin) Undergoes Endosomal Trafficking in Human Dendritic Cells, but Does Not Mediate Epithelial Adhesion. Swain S, et al. Front Immunol, 2018. PMID 30622531, Free PMC Article
  3. Disease association of the CD103 polymorphisms in Taiwan Chinese Graves' ophthalmopathy patients. Liu YH, et al. Ophthalmology, 2010 Aug. PMID 20417566
  4. AlphaE Integrin Expression Is Increased in the Ileum Relative to the Colon and Unaffected by Inflammation. Ichikawa R, et al. J Crohns Colitis, 2018 Nov 9. PMID 29912405, Free PMC Article
  5. Role of integrin CD103 in promoting destruction of renal allografts by CD8 T cells. Hadley G. Am J Transplant, 2004 Jul. PMID 15196058

See all (80) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Cryo-EM structure of I domain-containing integrin alphaEbeta7.
    Title: Cryo-EM structure of I domain-containing integrin αEβ7.
  2. Unconventional human CD61 pairing with CD103 promotes TCR signaling and antigen-specific T cell cytotoxicity.
    Title: Unconventional human CD61 pairing with CD103 promotes TCR signaling and antigen-specific T cell cytotoxicity.
  3. CD103 and CD39 coexpression identifies neoantigen-specific cytotoxic T cells in colorectal cancers with low mutation burden.
    Title: CD103 and CD39 coexpression identifies neoantigen-specific cytotoxic T cells in colorectal cancers with low mutation burden.
  4. The tissue-resident marker CD103 on peripheral blood T cells predicts responses to anti-PD-1 therapy in gastric cancer.
    Title: The tissue-resident marker CD103 on peripheral blood T cells predicts responses to anti-PD-1 therapy in gastric cancer.
  5. The multifunctional nature of CD103 (alphaEbeta7 integrin) signaling in tissue-resident lymphocytes.
    Title: The multifunctional nature of CD103 (αEβ7 integrin) signaling in tissue-resident lymphocytes.
  6. CD103 integrin identifies a high IL-10-producing FoxP3(+) regulatory T-cell population suppressing allergic airway inflammation.
    Title: CD103 integrin identifies a high IL-10-producing FoxP3(+) regulatory T-cell population suppressing allergic airway inflammation.
  7. The differentiation of new human CD303(+) Plasmacytoid dendritic cell subpopulations expressing CD205 and/or CD103 regulated by Non-Small-Cell lung cancer cells.
    Title: The differentiation of new human CD303(+) Plasmacytoid dendritic cell subpopulations expressing CD205 and/or CD103 regulated by Non-Small-Cell lung cancer cells.
  8. Intratumoral CD103+ CD8+ T cells predict response to PD-L1 blockade.
    Title: Intratumoral CD103+ CD8+ T cells predict response to PD-L1 blockade.
  9. CD8+CD103+ tissue-resident memory T cells convey reduced protective immunity in cutaneous squamous cell carcinoma.
    Title: CD8+CD103+ tissue-resident memory T cells convey reduced protective immunity in cutaneous squamous cell carcinoma.
  10. KLRG1 and CD103 Expressions Define Distinct Intestinal Tissue-Resident Memory CD8 T Cell Subsets Modulated in Crohn's Disease.
    Title: KLRG1 and CD103 Expressions Define Distinct Intestinal Tissue-Resident Memory CD8 T Cell Subsets Modulated in Crohn's Disease.
Submit: New GeneRIF Correction See all GeneRIFs (50)

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

Clone Names

  • MGC141996

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables integrin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cell adhesion mediated by integrin 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 external side of plasma membrane 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 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)

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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_001425071.1 → NP_001412000.1  integrin alpha-E isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC116914

  2. NM_001425072.1 → NP_001412001.1  integrin alpha-E isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AC116914

  3. NM_002208.5 → NP_002199.3  integrin alpha-E isoform 1 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, Q17RS6, Q9NZU9
    Related
    ENSP00000263087.4, ENST00000263087.9
    Conserved Domains (3) summary
    smart00191
    Location:574 → 633
    Int_alpha; Integrin alpha (beta-propellor repeats)
    cd01469
    Location:201 → 378
    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:676 → 997
    Integrin_alpha2; Integrin alpha

RNA

  1. NR_189124.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC116914
    Related
    ENST00000572179.5

  2. NR_189125.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC116914
    Related
    ENST00000570360.1

  3. NR_189126.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC116914

  4. NR_189129.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC116914

  5. NR_189130.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC116914

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    3714628..3801188 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    3603214..3689865 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P38570.3 GenPept UniProtKB/Swiss-Prot:P38570

Gene LinkOut

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