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Aliases for ITGA7 Gene

Aliases for ITGA7 Gene

  • Integrin, Alpha 7 2 3

External Ids for ITGA7 Gene

Summaries for ITGA7 Gene

Entrez Gene Summary for ITGA7 Gene

  • 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]

GeneCards Summary for ITGA7 Gene

ITGA7 (Integrin, Alpha 7) is a Protein Coding gene. Diseases associated with ITGA7 include whipple disease and muscular dystrophy, congenital, due to itga7 deficiency. Among its related pathways are PI3K-Akt signaling pathway and Regulation of actin cytoskeleton. GO annotations related to this gene include protein heterodimerization activity and cell adhesion molecule binding. An important paralog of this gene is ITGA8.

UniProtKB/Swiss-Prot for ITGA7 Gene

  • Integrin alpha-7/beta-1 is the primary laminin receptor on skeletal myoblasts and adult myofibers. During myogenic differentiation, it may induce changes in the shape and mobility of myoblasts, and facilitate their localization at laminin-rich sites of secondary fiber formation. It is involved in the maintenance of the myofibers cytoarchitecture as well as for their anchorage, viability and functional integrity. Isoform Alpha-7X2B and isoform Alpha-7X1B promote myoblast migration on laminin 1 and laminin 2/4, but isoform Alpha-7X1B is less active on laminin 1 (In vitro). Acts as Schwann cell receptor for laminin-2. Acts as a receptor of COMP and mediates its effect on vascular smooth muscle cells (VSMCs) maturation (By similarity). Required to promote contractile phenotype acquisition in differentiated airway smooth muscle (ASM) cells.

Gene Wiki entry for ITGA7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGA7 Gene

Genomics for ITGA7 Gene

Genomic Location for ITGA7 Gene

Start:
55,684,568 bp from pter
End:
55,716,043 bp from pter
Size:
31,476 bases
Orientation:
Minus strand

Genomic View for ITGA7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ITGA7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITGA7 Gene

Regulatory Elements for ITGA7 Gene

Proteins for ITGA7 Gene

  • Protein details for ITGA7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13683-ITA7_HUMAN
    Recommended name:
    Integrin alpha-7
    Protein Accession:
    Q13683
    Secondary Accessions:
    • B4E3U0
    • C9JMD3
    • C9JMZ6
    • O43197
    • Q86W93
    • Q9NY89
    • Q9UET0
    • Q9UEV2

    Protein attributes for ITGA7 Gene

    Size:
    1181 amino acids
    Molecular mass:
    128948 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of a heavy and a light chain linked by a disulfide bond. Alpha-7 associates with beta-1. Interacts with COMP (By similarity). Interacts (via C-terminus intracellular tail region) with CIB1; the interaction is stabilized/increased in a calcium- and magnesium-dependent manner.

    Alternative splice isoforms for ITGA7 Gene

neXtProt entry for ITGA7 Gene

Proteomics data for ITGA7 Gene at MOPED

Post-translational modifications for ITGA7 Gene

  • A 70 kDa form is created by proteolytic cleavage. Cleavage is elevated during myogenic differentiation and the cleaved form enhances cell adhesion and spreading on laminin.
  • ADP-ribosylated on at least two sites of the extracellular domain in skeletal myotubes.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys1126
  • Glycosylation at Asn86, Asn786, Asn989, Asn1025, and Asn1045

No data available for DME Specific Peptides for ITGA7 Gene

Domains for ITGA7 Gene

Gene Families for ITGA7 Gene

HGNC:
  • ITG :Integrins

UniProtKB/Swiss-Prot:

ITA7_HUMAN
Family:
  • Belongs to the integrin alpha chain family.:
    • Q13683
Similarity:
  • Contains 7 FG-GAP repeats.:
    • Q13683
genes like me logo Genes that share domains with ITGA7: view

Function for ITGA7 Gene

Molecular function for ITGA7 Gene

GENATLAS Biochemistry: integrin,alpha 7, cell surface adhesion receptor mediating cell-adhesion to extra cellular matrix or to other cells,through hetero dimerization and connecting to the cytoskeleton and various signaling molecules within cells,developmentally regulated during the formation of skeletal muscle cell ,sarcolemmal protein,dimerizing with ITGB1 in laminin receptor
UniProtKB/Swiss-Prot Function: Integrin alpha-7/beta-1 is the primary laminin receptor on skeletal myoblasts and adult myofibers. During myogenic differentiation, it may induce changes in the shape and mobility of myoblasts, and facilitate their localization at laminin-rich sites of secondary fiber formation. It is involved in the maintenance of the myofibers cytoarchitecture as well as for their anchorage, viability and functional integrity. Isoform Alpha-7X2B and isoform Alpha-7X1B promote myoblast migration on laminin 1 and laminin 2/4, but isoform Alpha-7X1B is less active on laminin 1 (In vitro). Acts as Schwann cell receptor for laminin-2. Acts as a receptor of COMP and mediates its effect on vascular smooth muscle cells (VSMCs) maturation (By similarity). Required to promote contractile phenotype acquisition in differentiated airway smooth muscle (ASM) cells.

Gene Ontology (GO) - Molecular Function for ITGA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IEA --
GO:0005515 protein binding --
GO:0043236 laminin binding IEA --
GO:0046872 metal ion binding IEA --
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with ITGA7: view
genes like me logo Genes that share phenotypes with ITGA7: view

Animal Models for ITGA7 Gene

MGI Knock Outs for ITGA7:

miRNA for ITGA7 Gene

miRTarBase miRNAs that target ITGA7

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for ITGA7 Gene

Localization for ITGA7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGA7 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ITGA7 Gene COMPARTMENTS Subcellular localization image for ITGA7 gene
Compartment Confidence
plasma membrane 4
extracellular 2
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ITGA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005927 muscle tendon junction IEA --
GO:0008305 integrin complex --
GO:0009986 cell surface IC 20563599
genes like me logo Genes that share ontologies with ITGA7: view

Pathways for ITGA7 Gene

genes like me logo Genes that share pathways with ITGA7: view

Gene Ontology (GO) - Biological Process for ITGA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion --
GO:0007160 cell-matrix adhesion TAS 9354797
GO:0007229 integrin-mediated signaling pathway IEA --
GO:0007517 muscle organ development TAS 9354797
GO:0007519 skeletal muscle tissue development IEA --
genes like me logo Genes that share ontologies with ITGA7: view

Compounds for ITGA7 Gene

(1) Novoseek inferred chemical compound relationships for ITGA7 Gene

Compound -log(P) Hits PubMed IDs
creatinine 0 2
genes like me logo Genes that share compounds with ITGA7: view

Transcripts for ITGA7 Gene

Unigene Clusters for ITGA7 Gene

Integrin, alpha 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ITGA7 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^
SP1: - - - - - - -
SP2: - -
SP3: - -
SP4: -
SP5:
SP6: - - - -
SP7: -
SP8:
SP9:
SP10:
SP11:

ExUns: 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for ITGA7 Gene

GeneLoc Exon Structure for
ITGA7
ECgene alternative splicing isoforms for
ITGA7

Expression for ITGA7 Gene

mRNA expression in normal human tissues for ITGA7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ITGA7 Gene

This gene is overexpressed in Heart - Left Ventricle (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ITGA7 Gene

SOURCE GeneReport for Unigene cluster for ITGA7 Gene Hs.524484

mRNA Expression by UniProt/SwissProt for ITGA7 Gene

Q13683-ITA7_HUMAN
Tissue specificity: Isoforms containing segment A are predominantly expressed in skeletal muscle. Isoforms containing segment B are abundantly expressed in skeletal muscle, moderately in cardiac muscle, small intestine, colon, ovary and prostate and weakly in lung and testes. Isoforms containing segment X2D are expressed at low levels in fetal and adult skeletal muscle and in cardiac muscle, but are not detected in myoblasts and myotubes. In muscle fibers isoforms containing segment A and B are expressed at myotendinous and neuromuscular junctions; isoforms containing segment C are expressed at neuromuscular junctions and at extrasynaptic sites. Isoforms containing segments X1 or X2 or, at low levels, X1X2 are expressed in fetal and adult skeletal muscle (myoblasts and myotubes) and cardiac muscle.
genes like me logo Genes that share expressions with ITGA7: view

Orthologs for ITGA7 Gene

This gene was present in the common ancestor of animals.

Orthologs for ITGA7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITGA7 36
  • 99.56 (n)
  • 99.65 (a)
ITGA7 37
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ITGA7 36
  • 87.44 (n)
  • 89.57 (a)
ITGA7 37
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITGA7 36
  • 89.56 (n)
  • 92.35 (a)
ITGA7 37
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Itga7 36
  • 86.17 (n)
  • 88.6 (a)
Itga7 16
Itga7 37
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITGA7 37
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itga7 36
  • 86.02 (n)
  • 88.12 (a)
lizard
(Anolis carolinensis)
Reptilia ITGA7 37
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itga7 36
  • 61.94 (n)
  • 59.51 (a)
Str.9614 36
zebrafish
(Danio rerio)
Actinopterygii itga7 37
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mew 37
  • 28 (a)
OneToMany
mew 38
  • 29 (a)
scb 38
  • 26 (a)
alphaPS5 38
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea ina-1 37
  • 25 (a)
OneToMany
ina-1 38
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 30 (a)
ManyToMany
CSA.6547 37
  • 32 (a)
ManyToMany
Species with no ortholog for ITGA7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ITGA7 Gene

ENSEMBL:
Gene Tree for ITGA7 (if available)
TreeFam:
Gene Tree for ITGA7 (if available)

Paralogs for ITGA7 Gene

genes like me logo Genes that share paralogs with ITGA7: view

Variants for ITGA7 Gene

Sequence variations from dbSNP and Humsavar for ITGA7 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs1049220 -- 55,698,823(-) GTGGT(C/T)ATCCT reference, synonymous-codon
rs1063330 -- 55,694,096(-) TTCTT(A/C)TCTGG missense, reference
rs1800974 Benign, - 55,695,573(-) GGTCC(A/G)CGCCC missense, reference
rs2293410 Benign 55,694,989(+) CCCCA(C/T)TCCTG intron-variant
rs2293411 -- 55,695,770(+) GCTTA(C/T)TAGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ITGA7 Gene

Variant ID Type Subtype PubMed ID
nsv525231 CNV Loss 19592680
nsv832423 CNV Gain 17160897
nsv469410 CNV Loss 19166990

Relevant External Links for ITGA7 Gene

HapMap Linkage Disequilibrium report
ITGA7
Human Gene Mutation Database (HGMD)
ITGA7
Locus Specific Mutation Databases (LSDB)
ITGA7

Disorders for ITGA7 Gene

(1) OMIM Diseases for ITGA7 Gene (600536)

UniProtKB/Swiss-Prot

ITA7_HUMAN
  • Muscular dystrophy congenital due to integrin alpha-7 deficiency (MDCI) [MIM:613204]: A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures. {ECO:0000269 PubMed:9590299}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ITGA7 Gene

(9) Novoseek inferred disease relationships for ITGA7 Gene

Disease -log(P) Hits PubMed IDs
muscular dystrophies 75.4 7
myopathy, congenital 74.9 4
fukuyama congenital muscular dystrophy 71.7 1
myopathy 40.9 2
muscular dystrophy duchenne 32 2

Genatlas disease for ITGA7 Gene

congenital myopathy with delayed motor milestones

Relevant External Links for ITGA7

Genetic Association Database (GAD)
ITGA7
Human Genome Epidemiology (HuGE) Navigator
ITGA7
genes like me logo Genes that share disorders with ITGA7: view

Publications for ITGA7 Gene

  1. Expression of alpha 7 integrin cytoplasmic domains during skeletal muscle development: alternate forms, conformational change, and homologies with serine/threonine kinases and tyrosine phosphatases. (PMID: 8126096) Song W.K. … Kaufman S.J. (J. Cell Sci. 1993) 3 4 23
  2. Mutations in the integrin alpha7 gene cause congenital myopathy. (PMID: 9590299) Hayashi Y.K. … Arahata K. (Nat. Genet. 1998) 3 4 23
  3. The role of extracellular and cytoplasmic splice domains of alpha7- integrin in cell adhesion and migration on laminins. (PMID: 10694445) Schoeber S. … von der Mark K. (Exp. Cell Res. 2000) 3 4 23
  4. Interaction of integrin alpha 7 beta 1 in C2C12 myotubes and in solution with laminin. (PMID: 9570924) Zolkiewska A. … Moss J. (Exp. Cell Res. 1998) 3 23
  5. alpha7 integrin expressing human fetal myogenic progenitors have stem cell-like properties and are capable of osteogenic differentiation. (PMID: 17054947) Ozeki N. … Kramer R.H. (Exp. Cell Res. 2006) 3 23

Products for ITGA7 Gene

Sources for ITGA7 Gene

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