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ITGA3 integrin subunit alpha 3 [ Homo sapiens (human) ]

Gene ID: 3675, updated on 7-Apr-2024

Summary

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Official Symbol
ITGA3provided by HGNC
Official Full Name
integrin subunit alpha 3provided by HGNC
Primary source
HGNC:HGNC:6139
See related
Ensembl:ENSG00000005884 MIM:605025; AllianceGenome:HGNC:6139
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
JEB7; VL3A; CD49C; FRP-2; GAPB3; ILNEB; MSK18; VCA-2; VLA3a; GAP-B3
Summary
The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function as cell surface adhesion molecules. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 3 subunit. This subunit joins with a beta 1 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. Expression of this gene may be correlated with breast cancer metastasis. [provided by RefSeq, Oct 2015]
Expression
Broad expression in lung (RPKM 53.0), thyroid (RPKM 21.5) and 19 other tissues See more
Orthologs
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Genomic context

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See ITGA3 in Genome Data Viewer
Location:
17q21.33
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (50056110..50090481)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (50921575..50957585)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48133474..48167845)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48066999-48067498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8677 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48072293-48072875 Neighboring gene distal-less homeobox 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48111925-48112721 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48125618-48126247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48131902-48132428 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8678 Neighboring gene p53 inducible cancer associated RNA transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48139516-48140016 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48140017-48140517 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:48141472-48142671 Neighboring gene uncharacterized LOC124904024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8679 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48173115-48173630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48173631-48174146 Neighboring gene uncharacterized LOC124904026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48178368-48178977 Neighboring gene pyruvate dehydrogenase kinase 2

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
  • 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. Detection of bladder cancer with aberrantly fucosylated ITGA3. Islam MK, et al. Anal Biochem, 2021 Sep 1. PMID 34102169
  2. Homozygous ITGA3 Missense Mutation in Adults in a Family with Syndromic Epidermolysis Bullosa (ILNEB) without Pulmonary Involvement. Kinyó Á, et al. J Invest Dermatol, 2021 Nov. PMID 34023363
  3. Skin fragility, renal malformation and interstitial lung disease due to compound heterozygous ITGA3 mutations. Sondermann W, et al. J Dtsch Dermatol Ges, 2021 Jun. PMID 33768705
  4. Integrin α3 is involved in non-enveloped hepatitis E virus infection. Shiota T, et al. Virology, 2019 Oct. PMID 31421623
  5. Integrin-α3 Is a Functional Marker of Ex Vivo Expanded Human Long-Term Hematopoietic Stem Cells. Tomellini E, et al. Cell Rep, 2019 Jul 23. PMID 31340144

See all (272) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Integrin alpha3 promotes TH17 cell polarization and extravasation during autoimmune neuroinflammation.
    Title: Integrin α3 promotes T(H)17 cell polarization and extravasation during autoimmune neuroinflammation.
  2. Integrin alpha3 Mediates Stemness and Invasion of Glioblastoma by Regulating POU3F2.
    Title: Integrin α3 Mediates Stemness and Invasion of Glioblastoma by Regulating POU3F2.
  3. YY1/ITGA3 pathway may affect trophoblastic cells migration and invasion ability.
    Title: YY1/ITGA3 pathway may affect trophoblastic cells migration and invasion ability.
  4. miRNA-144-5p/ITGA3 Suppressed the Tumor-Promoting Behaviors of Thyroid Cancer Cells by Downregulating ITGA3.
    Title: miRNA-144-5p/ITGA3 Suppressed the Tumor-Promoting Behaviors of Thyroid Cancer Cells by Downregulating ITGA3.
  5. Homozygous ITGA3 Missense Mutation in Adults in a Family with Syndromic Epidermolysis Bullosa (ILNEB) without Pulmonary Involvement.
    Title: Homozygous ITGA3 Missense Mutation in Adults in a Family with Syndromic Epidermolysis Bullosa (ILNEB) without Pulmonary Involvement.
  6. CD9 and ITGA3 are regulated during HIV-1 infection in macrophages to support viral replication.
    Title: CD9 and ITGA3 are regulated during HIV-1 infection in macrophages to support viral replication.
  7. Detection of bladder cancer with aberrantly fucosylated ITGA3.
    Title: Detection of bladder cancer with aberrantly fucosylated ITGA3.
  8. Key Role of CD151-integrin Complex in Lung Cancer Metastasis and Mechanisms Involved.
    Title: Key Role of CD151-integrin Complex in Lung Cancer Metastasis and Mechanisms Involved.
  9. Skin fragility, renal malformation and interstitial lung disease due to compound heterozygous ITGA3 mutations.
    Title: Skin fragility, renal malformation and interstitial lung disease due to compound heterozygous ITGA3 mutations.
  10. Expression and Prognostic Analyses of ITGA3, ITGA5, and ITGA6 in Head and Neck Squamous Cell Carcinoma.
    Title: Expression and Prognostic Analyses of ITGA3, ITGA5, and ITGA6 in Head and Neck Squamous Cell Carcinoma.
Submit: New GeneRIF Correction See all GeneRIFs (150)

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

Associated conditions

Description Tests
Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
MedGen: C4518785 OMIM: 614748 GeneReviews: Not available
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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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Genes, including GABRP, ADF, HINT, PRSS2, SDCBP, PTK9, PPP2R5B, ITGA3, PRKCBP1, HMOX2, HAT1, PPP1cB, and ICAM-1, are upregulated after treatment of human astrocytes with HIV-1 gp120 PubMed
Tat tat Activation of primary T cells by HIV-1 Tat involves integrin receptors and monoclonal antibodies to integrin alpha 3 inhibit Tat-induced upregulation of CD25 PubMed
retropepsin gag-pol Beta4 integrin and alpha3 integrin are cleaved by the HIV-1 protease in human embryonic fibroblasts PubMed

Go to the HIV-1, Human Interaction Database

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

  • FLJ33213, FLJ34631, FLJ34704, FLJ37821

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables collagen binding IEA
Inferred from Electronic Annotation
more info
  
enables fibronectin binding IEA
Inferred from Electronic Annotation
more info
  
enables integrin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables laminin binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protease binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein domain specific binding IEA
Inferred from Electronic Annotation
more info
  
enables protein heterodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in Rho protein signal transduction IEA
Inferred from Electronic Annotation
more info
  
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
  
acts_upstream_of_or_within dendritic spine maintenance ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within exploration behavior ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in heart development IEA
Inferred from Electronic Annotation
more info
  
involved_in integrin-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in leukocyte migration IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in lung development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in maternal process involved in female pregnancy IEA
Inferred from Electronic Annotation
more info
  
involved_in memory IEA
Inferred from Electronic Annotation
more info
  
involved_in mesodermal cell differentiation IEP
Inferred from Expression Pattern
more info
 PubMed 
acts_upstream_of_or_within negative regulation of Rho protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of cell projection organization IEA
Inferred from Electronic Annotation
more info
  
involved_in nephron development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in neuron migration IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of cell-substrate adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of epithelial cell migration IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of protein localization to plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of BMP signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of transforming growth factor beta receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in renal filtration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to gonadotropin IEA
Inferred from Electronic Annotation
more info
  
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in skin development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in synaptic membrane adhesion IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in cell periphery IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell surface HDA PubMed 
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
located_in excitatory synapse ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular exosome HDA PubMed 
located_in filopodium membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in focal adhesion HDA PubMed 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in growth cone filopodium IEA
Inferred from Electronic Annotation
more info
  
part_of integrin alpha3-beta1 complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of integrin alpha3-beta1 complex IMP
Inferred from Mutant Phenotype
more info
 PubMed 
part_of integrin complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in neuromuscular junction IEA
Inferred from Electronic Annotation
more info
  
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
  
located_in presynaptic active zone membrane IEA
Inferred from Electronic Annotation
more info
  
part_of receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in synaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
integrin alpha-3
Names
CD49 antigen-like family member C
alpha 3 subunit of VLA-3 receptor
antigen CD49C
antigen identified by monoclonal antibody J143
galactoprotein B3
integrin alpha 3
integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
testicular tissue protein Li 96
testicular tissue protein Li 98
very late activation protein 3 receptor, alpha-3 subunit
very late activation receptor subunit alpha-3

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

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_029107.2 RefSeqGene

    Range
    5135..39506
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002204.4 → NP_002195.1  integrin alpha-3 preproprotein

    See identical proteins and their annotated locations for NP_002195.1

    Status: REVIEWED

    Source sequence(s)
    AK289961, BC150190, BU631476, DA655978
    Consensus CDS
    CCDS11558.1
    UniProtKB/Swiss-Prot
    A7E246, B7ZM80, B9EGQ1, D3DTX4, D3DTX5, P26006
    UniProtKB/TrEMBL
    A0A140VJM0, B4E0H8
    Related
    ENSP00000315190.8, ENST00000320031.13
    Conserved Domains (2) summary
    smart00191
    Location:365 → 417
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:462 → 916
    Integrin_alpha2; Integrin alpha

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    50056110..50090481
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257308.3 → XP_005257365.1  integrin alpha-3 isoform X1

    UniProtKB/TrEMBL
    B4E0H8
    Conserved Domains (2) summary
    smart00191
    Location:48 → 108
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:327 → 781
    Integrin_alpha2; Integrin alpha

  2. XM_047435922.1 → XP_047291878.1  integrin alpha-3 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    50921575..50957585
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315958.1 → XP_054171933.1  integrin alpha-3 isoform X1

  2. XM_054315959.1 → XP_054171934.1  integrin alpha-3 isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_005501.2: Suppressed sequence

    Description
    NM_005501.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P26006.5 GenPept UniProtKB/Swiss-Prot:P26006

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
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