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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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