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    ITGA7 integrin, alpha 7 [ Homo sapiens ]

    Gene ID: 3679, updated on 19-May-2012
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    Summary

    Official Symbol
    ITGA7provided by HGNC
    Official Full Name
    integrin, alpha 7provided by HGNC
    Primary source
    HGNC:6143
    Locus tag
    UNQ406/PRO768
    See related
    Ensembl:ENSG00000135424; HPRD:02761; MIM:600536; Vega:OTTHUMG00000170699
    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
    FLJ25220
    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]
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    Genomic context

    Location :
    12q13
    Sequence :
    Chromosome: 12; NC_000012.11 (56078352..56106089, complement)
    See ITGA7 in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene olfactory receptor, family 10, subfamily AE, member 3 pseudogene Neighboring gene proteasome (prosome, macropain) subunit, beta type, 3 pseudogene Neighboring gene methyltransferase like 7B Neighboring gene BLOC1S1-RDH5 readthrough Neighboring gene biogenesis of lysosomal organelles complex-1, subunit 1 Neighboring gene retinol dehydrogenase 5 (11-cis/9-cis)

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    2. Integrin alpha 7 interacts with high temperature requirement A2 (HtrA2) to induce prostate cancer cell death. Zhu ZH, et al. Am J Pathol, 2010 Sep. PMID 20651226.
    3. Interaction of integrin-linked kinase and miniature chromosome maintenance 7-mediating integrin {alpha}7 induced cell growth suppression. Han YC, et al. Cancer Res, 2010 Jun 1. PMID 20460506.
    4. A Large-scale genetic association study of esophageal adenocarcinoma risk. Liu CY, et al. Carcinogenesis, 2010 Jul. PMID 20453000.
    5. Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy. Rooney JE, et al. Proc Natl Acad Sci U S A, 2009 May 12. PMID 19416897.

    See all (41) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. This report provides a novel insight into the mechanism, involving interaction with high temperature requirement A2, by which ITGA7 acts as a tumor suppressor.
      Title: Integrin alpha 7 interacts with high temperature requirement A2 (HtrA2) to induce prostate cancer cell death.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: A Large-scale genetic association study of esophageal adenocarcinoma risk.
    3. ILK interaction with MCM7 and MCM7 phosphorylation may be a critical event in ITGA7 signaling pathway, leading to tumor suppression.
      Title: Interaction of integrin-linked kinase and miniature chromosome maintenance 7-mediating integrin {alpha}7 induced cell growth suppression.
    4. laminin-111 (alpha(1), beta(1), gamma(1)), which is expressed during embryonic development but absent in normal or dystrophic skeletal muscle, increased alpha(7)-integrin expression in mouse and DMD patient myoblasts
      Title: Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy.
    5. cleavage is a novel mechanism that regulates alpha7 integrin functions in skeletal muscle, and that the generation of such cleavage sites is another evolutionary mechanism for expanding and modifying protein functions.
      Title: Genetically determined proteolytic cleavage modulates alpha7beta1 integrin function.
    6. Alpha7B is a novel marker of the contractile phenotype, and alpha7 expression is essential for human airway smooth muscle cell maturation, which is a laminin-dependent process.
      Title: Laminin-binding integrin alpha7 is required for contractile phenotype expression by human airway myocytes.
    7. analysis of how distinct acidic clusters and hydrophobic residues in the alternative splice domains X1 and X2 of alpha7 integrins define specificity for laminin isoforms
      Title: Distinct acidic clusters and hydrophobic residues in the alternative splice domains X1 and X2 of alpha7 integrins define specificity for laminin isoforms.
    8. Integrin alpha7 mutations are associated with prostate cancer, liver cancer, glioblastoma multiforme, and leiomyosarcoma
      Title: Analysis of integrin alpha7 mutations in prostate cancer, liver cancer, glioblastoma multiforme, and leiomyosarcoma.
    9. FHL2 and FHL3, respectively, are colocalized with alpha(7)beta(1) integrin receptor at the periphery of Z-discs, suggesting a role in mechanical stabilization of muscle cells
      Title: The LIM-only proteins FHL2 and FHL3 interact with alpha- and beta-subunits of the muscle alpha7beta1 integrin receptor.
    10. alpha7-expressing fetal myoblasts are capable of differentiation to osteoblast lineage with a coordinated switch in integrin profiles and may represent a mechanism that promotes homing and recruitment of myogenic stem cells for tissue remodeling.
      Title: alpha7 integrin expressing human fetal myogenic progenitors have stem cell-like properties and are capable of osteogenic differentiation.
    Submit: New GeneRIF Correction See all (11)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Muscular dystrophy, congenital, due to ITGA7 deficiency

    Myopathy, congenital

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q13683 P02708 CHRNA1    HPRD  PubMed  
    Q13683 Q14192 FHL2    HPRD  PubMed  
    Q13683 Q13643 FHL3    HPRD  PubMed  
    Q13683 Q13683 ITGA7    HPRD  PubMed  
    Q13683 Q99972 MYOC    HPRD  PubMed  
    BioGRID:109885 BioGRID:107556 CHRNA1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109885 BioGRID:108565 FHL2    BioGRID  PubMed Affinity Capture-Western; Co-localization; Two-hybrid 
    BioGRID:109885 BioGRID:108566 FHL3    BioGRID  PubMed Affinity Capture-Western; Co-localization; Two-hybrid 
    BioGRID:109885 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • ECM-receptor interaction, organism-specific biosystem (from KEGG)
      ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • ECM-receptor interaction, conserved biosystem (from KEGG)
      ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • Focal Adhesion, organism-specific biosystem (from WikiPathways)
      Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Integrin cell surface interactions, organism-specific biosystem (from REACTOME)
      Integrin cell surface interactions, organism-specific biosystemThe extracellular matrix (ECM) is a network of macro-molecules that underlies all epithelia and endothelia and that surrounds all connective tissue cells. This matrix provides the mechanical strength...
    • Integrin-mediated cell adhesion, organism-specific biosystem (from WikiPathways)
      Integrin-mediated cell adhesion, organism-specific biosystemIntegrins are receptors that mediate attachment between a cell and the tissues surrounding it, which may be other cells or the extracellular matrix (ECM). They also play a role in cell signaling and ...
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell-matrix adhesion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    integrin-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    muscle organ development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    integrin complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    integrin alpha-7
    Names
    integrin alpha-7
    integrin alpha 7 chain
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    NCBI Reference Sequences (RefSeq)

    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)

    mRNA and Protein(s)

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

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB210036, AF032108, AY358882, DA398527
      Consensus CDS
      CCDS55832.1
      UniProtKB/Swiss-Prot
      Q13683
      UniProtKB/TrEMBL
      Q4LE35
      Related
      ENSP00000452120, OTTHUMP00000244243, ENST00000553804, OTTHUMT00000410048
      Conserved Domains (3) summary
      pfam08441
      Location:475 – 966
      Blast Score: 892
      Integrin_alpha2; Integrin alpha
      pfam13517
      Location:332 – 405
      Blast Score: 125
      VCBS; Family description
      cl15299
      Location:381 – 433
      Blast Score: 173
      FG-GAP; FG-GAP repeat

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

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains few novel in-frame coding exons at the 5' end, and is missing some exons found in transcript variant 1. This results in a shorter isoform (3) with a different N-terminus compared to isoform 1.
      Source sequence(s)
      AB210036, AF032108, AK304864, DA096702
      Consensus CDS
      CCDS44914.1
      UniProtKB/Swiss-Prot
      Q13683
      UniProtKB/TrEMBL
      Q4LE35
      Related
      ENSP00000393844, OTTHUMP00000244246, ENST00000452168, OTTHUMT00000410051
      Conserved Domains (3) summary
      pfam08441
      Location:378 – 869
      Blast Score: 889
      Integrin_alpha2; Integrin alpha
      pfam13517
      Location:235 – 308
      Blast Score: 128
      VCBS; Family description
      cl15299
      Location:284 – 336
      Blast Score: 175
      FG-GAP; FG-GAP repeat

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

      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, AF032108, DA398527
      Consensus CDS
      CCDS8888.1
      UniProtKB/Swiss-Prot
      Q13683
      UniProtKB/TrEMBL
      Q4LE35
      Related
      ENSP00000257879, OTTHUMP00000244244, ENST00000257879, OTTHUMT00000410049
      Conserved Domains (3) summary
      pfam08441
      Location:471 – 962
      Blast Score: 889
      Integrin_alpha2; Integrin alpha
      pfam13517
      Location:328 – 401
      Blast Score: 124
      VCBS; Family description
      cl15299
      Location:377 – 429
      Blast Score: 172
      FG-GAP; FG-GAP repeat

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000012.11 Reference GRCh37.p5 Primary Assembly

      Range
      56078352..56106089, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      53117170..53144908, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC009779.18 (29355..52630) None
    genomic AJ228836.1 CAB41534.1
      CAB41535.1
    genomic AJ228836.1 CAB41534.1
      CAB41535.1
    genomic CH471054.1 EAW96819.1
      EAW96820.1
      EAW96821.1
      EAW96822.1
      EAW96823.1
    mRNA AB210036.1 BAE06118.1
    mRNA AF032108.1 AAC39708.1
    mRNA AF034833.1 AAB87696.1
    mRNA AF052050.1 AAC18968.1
    mRNA AF072132.1 AAC80458.1
    mRNA AK022548.1 BAG51088.1
    mRNA AK057949.1 None
    mRNA AK304864.1 BAG65602.1
    mRNA AY358882.1 AAQ89241.1
    mRNA BC050280.1 AAH50280.1
    mRNA DA096702.1 None
    mRNA DA398527.1 None
    mRNA X74295.1 CAA52348.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13683.3 GenPept UniProtKB/Swiss-Prot:Q13683
    Q4LE35 GenPept UniProtKB/TrEMBL:Q4LE35
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    Additional Links

    Additional Links

    Gene LinkOut

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

    Chemical Information
    Medical
    Molecular Biology Databases
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