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

Summary

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: mouse all
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Genomic context

Location:: 17q21.33

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (50056110..50090481)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (50921575..50957585)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (48133474..48167845)

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:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Early-stage lung cancer is driven by a transitional cell state dependent on a KRAS-ITGA3-SRC axis.
Title: Early-stage lung cancer is driven by a transitional cell state dependent on a KRAS-ITGA3-SRC axis.
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.
Integrin alpha3 Mediates Stemness and Invasion of Glioblastoma by Regulating POU3F2.
Title: Integrin α3 Mediates Stemness and Invasion of Glioblastoma by Regulating POU3F2.
YY1/ITGA3 pathway may affect trophoblastic cells migration and invasion ability.
Title: YY1/ITGA3 pathway may affect trophoblastic cells migration and invasion ability.
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.
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.
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.
Detection of bladder cancer with aberrantly fucosylated ITGA3.
Title: Detection of bladder cancer with aberrantly fucosylated ITGA3.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (151)

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
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MedGen: C4518785 OMIM: 614748 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-M59911 (e-PCR)
- UniSTS:74273

D8S2279 (e-PCR)
- UniSTS:473907

D15S1477 (e-PCR)
- UniSTS:474482

ITGA3_168 (e-PCR)
- UniSTS:277392

STS-R69448 (e-PCR)
- UniSTS:63657

GDB:314047 (e-PCR)
- UniSTS:46015

WI-21975 (e-PCR)
- UniSTS:73668

STS-H06518 (e-PCR)
- UniSTS:73669

STS-D29549 (e-PCR)
- UniSTS:28364

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 more info	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 more info	PubMed
located_in filopodium membrane	IDA Inferred from Direct Assay more info	PubMed
located_in focal adhesion	HDA more info	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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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

NG_029107.2 RefSeqGene

Range

5135..39506

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

50056110..50090481

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

50921575..50957585

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054315958.1 → XP_054171933.1 integrin alpha-3 isoform X1
XM_054315959.1 → XP_054171934.1 integrin alpha-3 isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.