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

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; 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

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cryo-EM structure of I domain-containing integrin alphaEbeta7.
Title: Cryo-EM structure of I domain-containing integrin αEβ7.
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.
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.
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.
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.
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.
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.
Intratumoral CD103+ CD8+ T cells predict response to PD-L1 blockade.
Title: Intratumoral CD103+ CD8+ T cells predict response to PD-L1 blockade.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S919 (e-PCR), detects polymorphism
- UniSTS:14857

A004X48 (e-PCR)
- UniSTS:55592

WI-14867 (e-PCR)
- UniSTS:82736

G60045 (e-PCR)
- UniSTS:137308

RH47338 (e-PCR)
- UniSTS:93020

RH48947 (e-PCR)
- UniSTS:49757

SHGC-132092 (e-PCR)
- UniSTS:170640

WI-22591 (e-PCR)
- UniSTS:5281

SHGC-12572 (e-PCR)
- UniSTS:33449

G54303 (e-PCR)
- UniSTS:116139

G54304 (e-PCR)
- UniSTS:116140

D17S1298 (e-PCR), detects polymorphism
- UniSTS:77746

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)

NM_001425071.1 → NP_001412000.1 integrin alpha-E isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AC116914
NM_001425072.1 → NP_001412001.1 integrin alpha-E isoform 3 precursor

Status: REVIEWED

Source sequence(s)

AC116914
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

NR_189124.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC116914

Related

ENST00000572179.5
NR_189125.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC116914

Related

ENST00000570360.1
NR_189126.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC116914
NR_189129.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC116914
NR_189130.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC116914