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ITGA7 integrin subunit alpha 7 [ Homo sapiens (human) ]

Gene ID: 3679, updated on 2-Nov-2024

Summary

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Official Symbol
ITGA7provided by HGNC
Official Full Name
integrin subunit alpha 7provided by HGNC
Primary source
HGNC:HGNC:6143
See related
Ensembl:ENSG00000135424 MIM:600536; AllianceGenome:HGNC:6143
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
Summary
The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spectrum of cell-cell and cell-matrix interactions, and thus play a role in cell migration, morphologic development, differentiation, and metastasis. This protein functions as a receptor for the basement membrane protein laminin-1. It is mainly expressed in skeletal and cardiac muscles and may be involved in differentiation and migration processes during myogenesis. Defects in this gene are associated with congenital myopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2009]
Expression
Biased expression in fat (RPKM 86.9), heart (RPKM 53.0) and 9 other tissues See more
Orthologs
mouse all
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Genomic context

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See ITGA7 in Genome Data Viewer
Location:
12q13.2
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (55684568..55716400, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (55651197..55683036, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56078352..56106192, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6450 Neighboring gene olfactory receptor family 10 subfamily AE member 3 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6451 Neighboring gene VISTA enhancer hs2573 Neighboring gene proteasome subunit beta 3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6453 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56075179-56075854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:56078881-56079380 Neighboring gene thiol methyltransferase 1B Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:56087579-56088778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4534 Neighboring gene BLOC1S1-RDH5 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:56114612-56115240 Neighboring gene biogenesis of lysosomal organelles complex 1 subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4535 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:56122619-56123225 Neighboring gene retinol dehydrogenase 5 Neighboring gene CD63 molecule Neighboring gene CD63 antisense RNA 1

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. ITGA7 loss drives the differentiation of adipose-derived mesenchymal stem cells to cancer-associated fibroblasts. Liu X, et al. Mol Carcinog, 2024 Mar. PMID 38174862
  2. Epigenetic down-regulation of integrin α7 increases migratory potential and confers poor prognosis in malignant pleural mesothelioma. Laszlo V, et al. J Pathol, 2015 Oct. PMID 26011651
  3. Human α7 Integrin Gene (ITGA7) Delivered by Adeno-Associated Virus Extends Survival of Severely Affected Dystrophin/Utrophin-Deficient Mice. Heller KN, et al. Hum Gene Ther, 2015 Oct. PMID 26076707, Free PMC Article
  4. Laminin-binding integrin alpha7 is required for contractile phenotype expression by human airway myocytes. Tran T, et al. Am J Respir Cell Mol Biol, 2007 Dec. PMID 17641293, Free PMC Article
  5. Analysis of integrin alpha7 mutations in prostate cancer, liver cancer, glioblastoma multiforme, and leiomyosarcoma. Ren B, et al. J Natl Cancer Inst, 2007 Jun 6. PMID 17551147

See all (82) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CircITGA7 regulates malignant phenotypes in bladder cancer cells via targeting miR-330-3p/KLF10 axis.
    Title: CircITGA7 regulates malignant phenotypes in bladder cancer cells via targeting miR-330-3p/KLF10 axis.
  2. ITGA7 loss drives the differentiation of adipose-derived mesenchymal stem cells to cancer-associated fibroblasts.
    Title: ITGA7 loss drives the differentiation of adipose-derived mesenchymal stem cells to cancer-associated fibroblasts.
  3. Integrin alpha7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.
    Title: Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.
  4. The relationship among integrin alpha 7, CD133 and Nestin as well as their correlation with clinicopathological features and prognosis in astrocytoma patients.
    Title: The relationship among integrin alpha 7, CD133 and Nestin as well as their correlation with clinicopathological features and prognosis in astrocytoma patients.
  5. ITGA7, CD133, ALDH1 are inter-correlated, and linked with poor differentiation, lymph node metastasis as well as worse survival in surgical cervical cancer.
    Title: ITGA7, CD133, ALDH1 are inter-correlated, and linked with poor differentiation, lymph node metastasis as well as worse survival in surgical cervical cancer.
  6. ITGA7 relates to disease risk, pathological feature, treatment response and survival in Ph(-) acute lymphoblastic leukemia.
    Title: ITGA7 relates to disease risk, pathological feature, treatment response and survival in Ph(-) acute lymphoblastic leukemia.
  7. Decrease in ITGA7 Levels Is Associated with an Increase in alpha-Synuclein Levels in an MPTP-Induced Parkinson's Disease Mouse Model and SH-SY5Y Cells.
    Title: Decrease in ITGA7 Levels Is Associated with an Increase in α-Synuclein Levels in an MPTP-Induced Parkinson's Disease Mouse Model and SH-SY5Y Cells.
  8. Transcriptome profiles of stem-like cells from primary breast cancers allow identification of ITGA7 as a predictive marker of chemotherapy response.
    Title: Transcriptome profiles of stem-like cells from primary breast cancers allow identification of ITGA7 as a predictive marker of chemotherapy response.
  9. Integrin alpha 7 correlates with poor clinical outcomes, and it regulates cell proliferation, apoptosis and stemness via PTK2-PI3K-Akt signaling pathway in hepatocellular carcinoma.
    Title: Integrin alpha 7 correlates with poor clinical outcomes, and it regulates cell proliferation, apoptosis and stemness via PTK2-PI3K-Akt signaling pathway in hepatocellular carcinoma.
  10. Predictive value of integrin alpha7 for acute myeloid leukemia risk and its correlation with prognosis in acute myeloid leukemia patients.
    Title: Predictive value of integrin α7 for acute myeloid leukemia risk and its correlation with prognosis in acute myeloid leukemia patients.
Submit: New GeneRIF Correction See all GeneRIFs (39)

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
Congenital muscular dystrophy due to integrin alpha-7 deficiency
MedGen: C2750786 OMIM: 613204 GeneReviews: Not available
not available

Variation

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See Variation Viewer (GRCh37.p13)

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

  • FLJ25220

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
  
enables protein 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 endodermal cell differentiation IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in heterotypic cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 muscle organ development TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of cell shape IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cell surface IC
Inferred by Curator
more info
 PubMed 
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-7
Names
integrin alpha 7 chain

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

  1. NG_012343.1 RefSeqGene

    Range
    5001..32738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_871

mRNA and Protein(s)

  1. NM_001144996.2 → NP_001138468.1  integrin alpha-7 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001138468.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AB210036, AC009779, AF032108, AY358882, DA398527
    Consensus CDS
    CCDS55832.1
    UniProtKB/TrEMBL
    A0A8I5KSX0
    Related
    ENSP00000452120.1, ENST00000553804.6
    Conserved Domains (2) summary
    smart00191
    Location:381 → 433
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:475 → 966
    Integrin_alpha2; Integrin alpha

  2. NM_001144997.2 → NP_001138469.1  integrin alpha-7 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
    Source sequence(s)
    AC009779
    Consensus CDS
    CCDS44914.1
    UniProtKB/TrEMBL
    G3V2C6
    Related
    ENSP00000393844.2, ENST00000452168.6
    Conserved Domains (2) summary
    smart00191
    Location:284 → 336
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:378 → 869
    Integrin_alpha2; Integrin alpha

  3. NM_001367993.1 → NP_001354922.1  integrin alpha-7 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC009779
    UniProtKB/TrEMBL
    G3V2C6

  4. NM_001367994.1 → NP_001354923.1  integrin alpha-7 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC009779

  5. NM_001374465.1 → NP_001361394.1  integrin alpha-7 isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AC009779
    Consensus CDS
    CCDS91703.1
    UniProtKB/TrEMBL
    J3KNV4, Q4LE35
    Related
    ENSP00000343009.6, ENST00000347027.10
    Conserved Domains (2) summary
    smart00191
    Location:377 → 429
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:471 → 956
    Integrin_alpha2; Integrin alpha

  6. NM_001410977.1 → NP_001397906.1  integrin alpha-7 isoform 7 precursor

    Status: REVIEWED

    Source sequence(s)
    AC009779
    Consensus CDS
    CCDS91704.1
    UniProtKB/Swiss-Prot
    B4E3U0, C9JMD3, C9JMZ6, O43197, Q13683, Q86W93, Q9NY89, Q9UET0, Q9UEV2
    Related
    ENSP00000452387.1, ENST00000555728.5

  7. NM_001414029.1 → NP_001400958.1  integrin alpha-7 isoform 8 precursor

    Status: REVIEWED

    Source sequence(s)
    AC009779

  8. NM_001414030.1 → NP_001400959.1  integrin alpha-7 isoform 9 precursor

    Status: REVIEWED

    Source sequence(s)
    AC009779

  9. NM_001414031.1 → NP_001400960.1  integrin alpha-7 isoform 10 precursor

    Status: REVIEWED

    Source sequence(s)
    AC009779

  10. NM_001414032.1 → NP_001400961.1  integrin alpha-7 isoform 11 precursor

    Status: REVIEWED

    Source sequence(s)
    AC009779

  11. NM_001414033.1 → NP_001400962.1  integrin alpha-7 isoform 12 precursor

    Status: REVIEWED

    Source sequence(s)
    AC009779

  12. NM_001414034.1 → NP_001400963.1  integrin alpha-7 isoform 13 precursor

    Status: REVIEWED

    Source sequence(s)
    AC009779

  13. NM_001414035.1 → NP_001400964.1  integrin alpha-7 isoform 14

    Status: REVIEWED

    Source sequence(s)
    AC009779

  14. NM_002206.3 → NP_002197.2  integrin alpha-7 isoform 2 precursor

    See identical proteins and their annotated locations for NP_002197.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate in-frame coding exon compared to transcript variant 1. This results in a slightly shorter isoform (2) with a different internal protein segment compared to isoform 1.
    Source sequence(s)
    AB210036, AC009779, AF032108, DA398527
    Consensus CDS
    CCDS8888.1
    UniProtKB/TrEMBL
    Q4LE35
    Related
    ENSP00000257879.7, ENST00000257879.11
    Conserved Domains (2) summary
    smart00191
    Location:377 → 429
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:471 → 962
    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

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    55684568..55716400 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428797.1 → XP_047284753.1  integrin alpha-7 isoform X5

  2. XM_005268844.2 → XP_005268901.1  integrin alpha-7 isoform X3

    See identical proteins and their annotated locations for XP_005268901.1

    UniProtKB/TrEMBL
    G3V2C6
    Conserved Domains (2) summary
    smart00191
    Location:308 → 360
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:402 → 893
    Integrin_alpha2; Integrin alpha

  3. XM_005268848.2 → XP_005268905.1  integrin alpha-7 isoform X6

    See identical proteins and their annotated locations for XP_005268905.1

    UniProtKB/TrEMBL
    G3V2C6
    Related
    ENSP00000450578.2, ENST00000557257.2
    Conserved Domains (2) summary
    smart00191
    Location:263 → 315
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:357 → 848
    Integrin_alpha2; Integrin alpha

  4. XM_047428796.1 → XP_047284752.1  integrin alpha-7 isoform X4

  5. XM_047428794.1 → XP_047284750.1  integrin alpha-7 isoform X4

  6. XM_047428793.1 → XP_047284749.1  integrin alpha-7 isoform X3

  7. XM_047428795.1 → XP_047284751.1  integrin alpha-7 isoform X4

  8. XM_017019265.2 → XP_016874754.1  integrin alpha-7 isoform X4

    UniProtKB/TrEMBL
    G3V2C6

  9. XM_047428798.1 → XP_047284754.1  integrin alpha-7 isoform X7

  10. XM_047428792.1 → XP_047284748.1  integrin alpha-7 isoform X3

  11. XM_005268840.3 → XP_005268897.1  integrin alpha-7 isoform X1

    UniProtKB/TrEMBL
    A0A8I5KSX0
    Conserved Domains (2) summary
    smart00191
    Location:421 → 473
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:515 → 1000
    Integrin_alpha2; Integrin alpha

  12. XM_005268841.3 → XP_005268898.1  integrin alpha-7 isoform X2

    UniProtKB/TrEMBL
    H0YJ98
    Related
    ENSP00000451039.3, ENST00000557555.3
    Conserved Domains (2) summary
    smart00191
    Location:421 → 473
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:515 → 1006
    Integrin_alpha2; Integrin alpha

  13. XM_047428799.1 → XP_047284755.1  integrin alpha-7 isoform X8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    55651197..55683036 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371966.1 → XP_054227941.1  integrin alpha-7 isoform X5

  2. XM_054371962.1 → XP_054227937.1  integrin alpha-7 isoform X3

  3. XM_054371967.1 → XP_054227942.1  integrin alpha-7 isoform X6

  4. XM_054371965.1 → XP_054227940.1  integrin alpha-7 isoform X4

  5. XM_054371964.1 → XP_054227939.1  integrin alpha-7 isoform X4

  6. XM_054371963.1 → XP_054227938.1  integrin alpha-7 isoform X3

  7. XM_054371968.1 → XP_054227943.1  integrin alpha-7 isoform X7

  8. XM_054371961.1 → XP_054227936.1  integrin alpha-7 isoform X3

  9. XM_054371959.1 → XP_054227934.1  integrin alpha-7 isoform X1

  10. XM_054371960.1 → XP_054227935.1  integrin alpha-7 isoform X2

  11. XM_054371969.1 → XP_054227944.1  integrin alpha-7 isoform X8

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13683.3 GenPept UniProtKB/Swiss-Prot:Q13683

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