ITGA1 integrin subunit alpha 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ITGA1provided by HGNC
Official Full Name: integrin subunit alpha 1provided by HGNC
Primary source: HGNC:HGNC:6134
See related: Ensembl:ENSG00000213949 MIM:192968; AllianceGenome:HGNC:6134
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: VLA1; CD49a
Summary: This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008]
Expression: Broad expression in spleen (RPKM 48.2), placenta (RPKM 40.6) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q11.2

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (52787916..52959209)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (53615621..53786944)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (52083750..52255039)

Chromosome 5 - NC_000005.10 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: 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?

The effects of inhibition and siRNA knockdown of collagen-binding integrins on human umbilical vein endothelial cell migration and tube formation.
Title: The effects of inhibition and siRNA knockdown of collagen-binding integrins on human umbilical vein endothelial cell migration and tube formation.
Hsa_circ_0043949 reinforces temozolomide resistance via upregulating oncogene ITGA1 axis in glioblastoma.
Title: Hsa_circ_0043949 reinforces temozolomide resistance via upregulating oncogene ITGA1 axis in glioblastoma.
Erianin Controls Collagen-Mediated Retinal Angiogenesis via the RhoA/ROCK1 Signaling Pathway Induced by the alpha2/beta1 Integrin-Collagen Interaction.
Title: Erianin Controls Collagen-Mediated Retinal Angiogenesis via the RhoA/ROCK1 Signaling Pathway Induced by the alpha2/beta1 Integrin-Collagen Interaction.
The catalytic activity of TCPTP is auto-regulated by its intrinsically disordered tail and activated by Integrin alpha-1.
Title: The catalytic activity of TCPTP is auto-regulated by its intrinsically disordered tail and activated by Integrin alpha-1.
CD49a Identifies Polyfunctional Memory CD8 T Cell Subsets that Persist in the Lungs After Influenza Infection.
Title: CD49a Identifies Polyfunctional Memory CD8 T Cell Subsets that Persist in the Lungs After Influenza Infection.
Nanofluorescence Probes to Detect miR-192/Integrin Alpha 1 and Their Correlations with Retinoblastoma.
Title: Nanofluorescence Probes to Detect miR-192/Integrin Alpha 1 and Their Correlations with Retinoblastoma.
An interspecies translation model implicates integrin signaling in infliximab-resistant inflammatory bowel disease.
Title: An interspecies translation model implicates integrin signaling in infliximab-resistant inflammatory bowel disease.
Alginate oligosaccharide protects endothelial cells against oxidative stress injury via integrin-alpha/FAK/PI3K signaling.
Title: Alginate oligosaccharide protects endothelial cells against oxidative stress injury via integrin-α/FAK/PI3K signaling.
These data indicate that integrin alpha2 signaling may have an increased osteogenic effect relative to integrin alpha1 .
Title: Influence of collagen-based integrin α(1) and α(2) mediated signaling on human mesenchymal stem cell osteogenesis in three dimensional contexts.
VLA1-collagen recognition is regulated by magnesium.
Title: Magnesium Activates Microsecond Dynamics to Regulate Integrin-Collagen Recognition.

Submit: New GeneRIF Correction See all GeneRIFs (70)

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
APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. EBI GWAS Catalog EBI GWAS CatalogPubMed
Polymorphic markers associated with severe oxaliplatin-induced, chronic peripheral neuropathy in colon cancer patients. 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

RH123048 (e-PCR)
- UniSTS:135441

D5S1686E (e-PCR)
- UniSTS:151074

RH120591 (e-PCR)
- UniSTS:132424

L28346 (e-PCR)
- UniSTS:65354

L28297 (e-PCR)
- UniSTS:76879

WI-17921 (e-PCR)
- UniSTS:39813

SHGC-32850 (e-PCR)
- UniSTS:30854

Pelo (e-PCR), detects polymorphism
- UniSTS:243340

RH121270 (e-PCR)
- UniSTS:138381

PMC310876P1 (e-PCR)
- UniSTS:272785

SHGC-53304 (e-PCR)
- UniSTS:75937

ITGA1_2521 (e-PCR)
- UniSTS:280789

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables collagen binding	TAS Traceable Author Statement more info	PubMed
enables collagen binding involved in cell-matrix adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
enables integrin binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase binding	IPI Inferred from Physical Interaction more info	PubMed

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 cell-matrix adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular extravasation	IEA Inferred from Electronic Annotation more info
involved_in integrin-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of epidermal growth factor receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron projection morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in neutrophil chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of phosphoprotein phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in vasodilation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in acrosomal vesicle	IEA Inferred from Electronic Annotation more info
located_in basal part of cell	IEA Inferred from Electronic Annotation more info
located_in cell surface	HDA more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
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 focal adhesion	HDA more info	PubMed
located_in focal adhesion	IDA Inferred from Direct Assay more info	PubMed
part_of integrin alpha1-beta1 complex	IDA Inferred from Direct Assay more info	PubMed
part_of integrin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of integrin complex	TAS Traceable Author Statement more info	PubMed
located_in membrane	HDA more info	PubMed
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: integrin alpha-1

Names: CD49 antigen-like family member A; VLA-1; laminin and collagen receptor; very late activation protein 1; very late antigen-1

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_181501.2 → NP_852478.1 integrin alpha-1 precursor

See identical proteins and their annotated locations for NP_852478.1

Status: REVIEWED

Source sequence(s)

AC022133, AC025180, AC026230, AC027326, KF457900, KF510907

Consensus CDS

CCDS3955.1

UniProtKB/Swiss-Prot

B2RNU0, P56199

UniProtKB/TrEMBL

B4DTY8

Related

ENSP00000282588.5, ENST00000282588.7

Conserved Domains (3) summary

smart00191
Location:568 → 621

Int_alpha; Integrin alpha (beta-propellor repeats)

cd01469
Location:171 → 351

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:664 → 1056

Integrin_alpha2; Integrin alpha