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

    Gene ID: 3679, updated on 5-Nov-2017
    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; 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
    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
    Location:
    12q13.2
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (55684568..55716037, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56078352..56109821, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 10 subfamily AE member 3 pseudogene Neighboring gene proteasome subunit beta 3 pseudogene 1 Neighboring gene methyltransferase like 7B Neighboring gene BLOC1S1-RDH5 readthrough Neighboring gene biogenesis of lysosomal organelles complex 1 subunit 1 Neighboring gene uncharacterized LOC105369779 Neighboring gene retinol dehydrogenase 5 Neighboring gene CD63 molecule

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystem (from WikiPathways)
      Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
    • 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 proteoglycans, organism-specific biosystem (from REACTOME)
      ECM proteoglycans, organism-specific biosystemProteoglycans are major components of the extracellular matrix. In cartilage the matrix constitutes more than 90% of tissue dry weight. Proteoglycans are proteins substituted with glycosaminoglycans ...
    • 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 ...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • 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 ...
    • Laminin interactions, organism-specific biosystem (from REACTOME)
      Laminin interactions, organism-specific biosystemLaminins are a large family of conserved, multidomain trimeric basement membrane proteins. There are many theoretical trimer combinations but only 18 have been described (Domogatskaya et al. 2012, Mi...
    • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
      PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
      PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • 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
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ25220

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell-matrix adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    endodermal cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    heterotypic cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    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
    cell surface IC
    Inferred by Curator
    more info
    PubMed 
    integrin complex IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    integrin alpha-7
    Names
    integrin alpha 7 chain

    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_001144996.1NP_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 the longest isoform (1).
      Source sequence(s)
      AB210036, AF032108, AY358882, DA398527
      Consensus CDS
      CCDS55832.1
      UniProtKB/Swiss-Prot
      Q13683
      UniProtKB/TrEMBL
      Q4LE35
      Related
      ENSP00000452120.1, OTTHUMP00000244243, ENST00000553804.5, OTTHUMT00000410048
      Conserved Domains (2) summary
      smart00191
      Location:381433
      Int_alpha; Integrin alpha (beta-propellor repeats)
      pfam08441
      Location:475966
      Integrin_alpha2; Integrin alpha
    2. NM_001144997.1NP_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
      ENSP00000393844.2, OTTHUMP00000244246, ENST00000452168.6, OTTHUMT00000410051
      Conserved Domains (2) summary
      smart00191
      Location:284336
      Int_alpha; Integrin alpha (beta-propellor repeats)
      pfam08441
      Location:378869
      Integrin_alpha2; Integrin alpha
    3. NM_002206.2NP_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, AF032108, DA398527
      Consensus CDS
      CCDS8888.1
      UniProtKB/Swiss-Prot
      Q13683
      UniProtKB/TrEMBL
      Q4LE35
      Related
      ENSP00000257879.6, OTTHUMP00000244244, ENST00000257879.10, OTTHUMT00000410049
      Conserved Domains (2) summary
      smart00191
      Location:377429
      Int_alpha; Integrin alpha (beta-propellor repeats)
      pfam08441
      Location:471962
      Integrin_alpha2; Integrin alpha

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      55684568..55716037 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268848.1XP_005268905.1  integrin alpha-7 isoform X8

      See identical proteins and their annotated locations for XP_005268905.1

      Conserved Domains (2) summary
      smart00191
      Location:263315
      Int_alpha; Integrin alpha (beta-propellor repeats)
      pfam08441
      Location:357848
      Integrin_alpha2; Integrin alpha
    2. XM_005268844.1XP_005268901.1  integrin alpha-7 isoform X5

      See identical proteins and their annotated locations for XP_005268901.1

      Conserved Domains (2) summary
      smart00191
      Location:308360
      Int_alpha; Integrin alpha (beta-propellor repeats)
      pfam08441
      Location:402893
      Integrin_alpha2; Integrin alpha
    3. XM_005268849.1XP_005268906.1  integrin alpha-7 isoform X8

      See identical proteins and their annotated locations for XP_005268906.1

      Conserved Domains (2) summary
      smart00191
      Location:263315
      Int_alpha; Integrin alpha (beta-propellor repeats)
      pfam08441
      Location:357848
      Integrin_alpha2; Integrin alpha
    4. XM_005268846.1XP_005268903.1  integrin alpha-7 isoform X7

      See identical proteins and their annotated locations for XP_005268903.1

      Conserved Domains (2) summary
      smart00191
      Location:264316
      Int_alpha; Integrin alpha (beta-propellor repeats)
      pfam08441
      Location:358849
      Integrin_alpha2; Integrin alpha
    5. XM_005268850.1XP_005268907.1  integrin alpha-7 isoform X9

      Conserved Domains (2) summary
      smart00191
      Location:219271
      Int_alpha; Integrin alpha (beta-propellor repeats)
      pfam08441
      Location:313804
      Integrin_alpha2; Integrin alpha
    6. XM_005268842.1XP_005268899.1  integrin alpha-7 isoform X4

      UniProtKB/TrEMBL
      J3KNV4
      Related
      ENSP00000343009.6, OTTHUMP00000244245, ENST00000347027.10, OTTHUMT00000410050
      Conserved Domains (2) summary
      smart00191
      Location:377429
      Int_alpha; Integrin alpha (beta-propellor repeats)
      pfam08441
      Location:471956
      Integrin_alpha2; Integrin alpha
    7. XM_005268840.1XP_005268897.1  integrin alpha-7 isoform X2

      Conserved Domains (2) summary
      smart00191
      Location:421473
      Int_alpha; Integrin alpha (beta-propellor repeats)
      pfam08441
      Location:5151000
      Integrin_alpha2; Integrin alpha
    8. XM_005268839.1XP_005268896.1  integrin alpha-7 isoform X1

      See identical proteins and their annotated locations for XP_005268896.1

      UniProtKB/Swiss-Prot
      Q13683
      Related
      ENSP00000452387.1, OTTHUMP00000244278, ENST00000555728.5, OTTHUMT00000410138
      Conserved Domains (2) summary
      smart00191
      Location:421473
      Int_alpha; Integrin alpha (beta-propellor repeats)
      pfam08441
      Location:5151006
      Integrin_alpha2; Integrin alpha
    9. XM_005268841.1XP_005268898.1  integrin alpha-7 isoform X3

      UniProtKB/Swiss-Prot
      Q13683
      Conserved Domains (2) summary
      smart00191
      Location:421473
      Int_alpha; Integrin alpha (beta-propellor repeats)
      pfam08441
      Location:5151006
      Integrin_alpha2; Integrin alpha
    10. XM_017019265.1XP_016874754.1  integrin alpha-7 isoform X6

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      56045138..56072879 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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