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

Gene ID: 3679, updated on 19-Jul-2014
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
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]
See ITGA7 in Epigenomics, MapViewer
Location:
12q13
Exon count:
31
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 (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) Neighboring gene CD63 molecule

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
integrin binding IEA
Inferred from Electronic Annotation
more info
 
laminin binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
blood vessel morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell migration IEA
Inferred from Electronic Annotation
more info
 
cell-matrix adhesion TAS
Traceable Author Statement
more info
PubMed 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
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
 
skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell surface IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
integrin alpha7-beta1 complex IEA
Inferred from Electronic Annotation
more info
 
muscle tendon junction IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
sarcolemma IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
integrin alpha-7
Names
integrin alpha-7
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 

    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 proteins identical to 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, OTTHUMP00000244243, ENST00000553804, OTTHUMT00000410048
    Conserved Domains (2) summary
    smart00191
    Location:381433
    Blast Score: 178
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:475966
    Blast Score: 957
    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, OTTHUMP00000244246, ENST00000452168, OTTHUMT00000410051
    Conserved Domains (2) summary
    smart00191
    Location:284336
    Blast Score: 180
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:378869
    Blast Score: 957
    Integrin_alpha2; Integrin alpha
  3. NM_002206.2NP_002197.2  integrin alpha-7 isoform 2 precursor

    See proteins identical to 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, OTTHUMP00000244244, ENST00000257879, OTTHUMT00000410049
    Conserved Domains (2) summary
    smart00191
    Location:377429
    Blast Score: 178
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:471962
    Blast Score: 957
    Integrin_alpha2; Integrin alpha

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

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

mRNA and Protein(s)

  1. XM_005268848.1XP_005268905.1  

    See proteins identical to XP_005268905.1

    Conserved Domains (2) summary
    smart00191
    Location:263315
    Blast Score: 178
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:357848
    Blast Score: 957
    Integrin_alpha2; Integrin alpha
  2. XM_005268844.1XP_005268901.1  

    Conserved Domains (2) summary
    smart00191
    Location:308360
    Blast Score: 178
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:402893
    Blast Score: 957
    Integrin_alpha2; Integrin alpha
  3. XM_005268849.1XP_005268906.1  

    See proteins identical to XP_005268906.1

    Conserved Domains (2) summary
    smart00191
    Location:263315
    Blast Score: 178
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:357848
    Blast Score: 957
    Integrin_alpha2; Integrin alpha
  4. XM_005268846.1XP_005268903.1  

    See proteins identical to XP_005268903.1

    Conserved Domains (2) summary
    smart00191
    Location:264316
    Blast Score: 179
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:358849
    Blast Score: 957
    Integrin_alpha2; Integrin alpha
  5. XM_005268845.1XP_005268902.1  

    See proteins identical to XP_005268902.1

    Conserved Domains (2) summary
    smart00191
    Location:264316
    Blast Score: 179
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:358849
    Blast Score: 957
    Integrin_alpha2; Integrin alpha
  6. XM_005268850.1XP_005268907.1  

    Conserved Domains (2) summary
    smart00191
    Location:219271
    Blast Score: 178
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:313804
    Blast Score: 957
    Integrin_alpha2; Integrin alpha
  7. XM_005268847.1XP_005268904.1  

    See proteins identical to XP_005268904.1

    Conserved Domains (2) summary
    smart00191
    Location:263315
    Blast Score: 178
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:357848
    Blast Score: 957
    Integrin_alpha2; Integrin alpha
  8. XM_005268842.1XP_005268899.1  

    UniProtKB/TrEMBL
    J3KNV4
    Related
    ENSP00000343009, OTTHUMP00000244245, ENST00000347027, OTTHUMT00000410050
    Conserved Domains (2) summary
    smart00191
    Location:377429
    Blast Score: 178
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:471956
    Blast Score: 927
    Integrin_alpha2; Integrin alpha
  9. XM_005268840.1XP_005268897.1  

    Conserved Domains (2) summary
    smart00191
    Location:421473
    Blast Score: 178
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:5151000
    Blast Score: 927
    Integrin_alpha2; Integrin alpha
  10. XM_005268839.1XP_005268896.1  

    See proteins identical to XP_005268896.1

    UniProtKB/Swiss-Prot
    Q13683
    Related
    ENSP00000452387, OTTHUMP00000244278, ENST00000555728, OTTHUMT00000410138
    Conserved Domains (2) summary
    smart00191
    Location:421473
    Blast Score: 177
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:5151006
    Blast Score: 957
    Integrin_alpha2; Integrin alpha
  11. XM_005268841.1XP_005268898.1  

    UniProtKB/Swiss-Prot
    Q13683
    Related
    ENSP00000257880, ENST00000257880
    Conserved Domains (2) summary
    smart00191
    Location:421473
    Blast Score: 177
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:5151006
    Blast Score: 957
    Integrin_alpha2; Integrin alpha

Alternate HuRef

Genomic

  1. AC_000144.1 

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

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

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