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

Gene ID: 3679, updated on 27-Jun-2015
Official Symbol
ITGA7provided by HGNC
Official Full Name
integrin, alpha 7provided by HGNC
Primary source
HGNC:HGNC:6143
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]
Orthologs
See ITGA7 in Epigenomics, MapViewer
Location:
12q13
Exon count:
32
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 6, subfamily C, member 70 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 uncharacterized LOC105369779 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?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ25220

Gene Ontology Provided by GOA

Function Evidence Code Pubs
laminin binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding 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 
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 
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 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, OTTHUMP00000244243, ENST00000553804, 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, OTTHUMP00000244246, ENST00000452168, 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, OTTHUMP00000244244, ENST00000257879, 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 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005268848.1XP_005268905.1  

    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  

    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  

    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  

    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_005268845.1XP_005268902.1  

    See identical proteins and their annotated locations for XP_005268902.1

    Conserved Domains (2) summary
    smart00191
    Location:264316
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:358849
    Integrin_alpha2; Integrin alpha
  6. XM_011538286.1XP_011536588.1  

    See identical proteins and their annotated locations for XP_011536588.1

    Conserved Domains (2) summary
    smart00191
    Location:308360
    Int_alpha; Integrin alpha (beta-propellor repeats)
    pfam08441
    Location:402893
    Integrin_alpha2; Integrin alpha
  7. XM_005268850.1XP_005268907.1  

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

    See identical proteins and their annotated locations for XP_005268904.1

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

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

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

    See identical proteins and their annotated locations for XP_005268896.1

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

    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
  13. XM_011538287.1XP_011536589.1  

    Conserved Domains (1) summary
    smart00191
    Location:421473
    Int_alpha; Integrin alpha (beta-propellor repeats)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

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