Human Gene ITGA7 (ENST00000257879.11_10) from GENCODE V47lift37
  Description: integrin subunit alpha 7, transcript variant 2 (from RefSeq NM_002206.3)
Gencode Transcript: ENST00000257879.11_10
Gencode Gene: ENSG00000135424.19_17
Transcript (Including UTRs)
   Position: hg19 chr12:56,078,352-56,101,688 Size: 23,337 Total Exon Count: 25 Strand: -
Coding Region
   Position: hg19 chr12:56,078,842-56,101,466 Size: 22,625 Coding Exon Count: 25 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:56,078,352-56,101,688)mRNA (may differ from genome)Protein (1137 aa)
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-  Comments and Description Text from UniProtKB
  ID: ITA7_HUMAN
DESCRIPTION: RecName: Full=Integrin alpha-7; Contains: RecName: Full=Integrin alpha-7 heavy chain; Contains: RecName: Full=Integrin alpha-7 light chain; Contains: RecName: Full=Integrin alpha-7 70 kDa form; Flags: Precursor;
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.
SUBUNIT: Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of an heavy and a light chain linked by a disulfide bond. Alpha-7 associates with beta-1. Interacts with COMP (By similarity).
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
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.
DEVELOPMENTAL STAGE: In renewing intestinal epithelium, expression of isoforms containing segment B correlates with the onset of enterocytic differentiation.
PTM: ADP-ribosylated on at least two sites of the extracellular domain in skeletal myotubes (By similarity).
PTM: 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.
DISEASE: Defects in ITGA7 are the cause of 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.
SIMILARITY: Belongs to the integrin alpha chain family.
SIMILARITY: Contains 7 FG-GAP repeats.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ITGA7
Diseases sorted by gene-association score: muscular dystrophy, congenital, due to itga7 deficiency* (1350), congenital fiber-type disproportion* (138), congenital myopathy (54), conventional leiomyosarcoma (16), inflammatory leiomyosarcoma (12), muscular dystrophy, congenital (11), muscular dystrophy-dystroglycanopathy , type a, 4 (10), myopathy (6), muscular dystrophy (5), duchenne muscular dystrophy (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 105.51 RPKM in Artery - Tibial
Total median expression: 1537.12 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -100.40222-0.452 Picture PostScript Text
3' UTR -188.20490-0.384 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013517 - FG-GAP
IPR013519 - Int_alpha_beta-p
IPR000413 - Integrin_alpha
IPR013649 - Integrin_alpha-2
IPR018184 - Integrin_alpha_C_CS

Pfam Domains:
PF00357 - Integrin alpha cytoplasmic region
PF01839 - FG-GAP repeat
PF08441 - Integrin alpha
PF13517 - FG-GAP-like repeat

SCOP Domains:
69179 - Integrin domains
69318 - Integrin alpha N-terminal domain
82171 - DPP6 N-terminal domain-like

ModBase Predicted Comparative 3D Structure on Q13683
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0007155 cell adhesion
GO:0007160 cell-matrix adhesion
GO:0007229 integrin-mediated signaling pathway
GO:0007517 muscle organ development
GO:0008360 regulation of cell shape
GO:0030198 extracellular matrix organization
GO:0034113 heterotypic cell-cell adhesion
GO:0035987 endodermal cell differentiation

Cellular Component:
GO:0005886 plasma membrane
GO:0008305 integrin complex
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AY358882 - Homo sapiens clone DNA55737 ITGA7 (UNQ406) mRNA, complete cds.
AF032108 - Homo sapiens integrin alpha-7 mRNA, complete cds.
BC050280 - Homo sapiens integrin, alpha 7, mRNA (cDNA clone MGC:33821 IMAGE:5284443), complete cds.
AB210036 - Homo sapiens mRNA for ITGA7 variant protein, clone: hk04261.
AK304864 - Homo sapiens cDNA FLJ58734 complete cds, highly similar to Integrin alpha-7 precursor.
AF072132 - Homo sapiens integrin alpha-7 mRNA, complete cds.
AF052050 - Homo sapiens integrin alpha 7 mRNA, complete cds.
AB384385 - Synthetic construct DNA, clone: pF1KSDB0059, Homo sapiens ITGA7 gene for integrin alpha-7 precursor, complete cds, without stop codon, in Flexi system.
AK057949 - Homo sapiens cDNA FLJ25220 fis, clone STM00558, highly similar to Homo sapiens integrin alpha-7 mRNA.
AK022548 - Homo sapiens cDNA FLJ12486 fis, clone NT2RM2000566, highly similar to Integrin alpha-7 precursor.
X74295 - Homo sapiens mRNA for alpha 7B integrin.
JD164721 - Sequence 145745 from Patent EP1572962.
JD044293 - Sequence 25317 from Patent EP1572962.
JD220093 - Sequence 201117 from Patent EP1572962.
JD515305 - Sequence 496329 from Patent EP1572962.
JD449091 - Sequence 430115 from Patent EP1572962.
JD108945 - Sequence 89969 from Patent EP1572962.
JD521771 - Sequence 502795 from Patent EP1572962.
JD333116 - Sequence 314140 from Patent EP1572962.
JD090108 - Sequence 71132 from Patent EP1572962.
JD119776 - Sequence 100800 from Patent EP1572962.
JD348214 - Sequence 329238 from Patent EP1572962.
AF034833 - Homo sapiens integrin alpha 7A subunit mRNA, partial cds.
JD216018 - Sequence 197042 from Patent EP1572962.
JD544226 - Sequence 525250 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q13683 (Reactome details) participates in the following event(s):

R-HSA-216058 Integrin alpha7beta1 binds Laminin-211, 221, 411, 512, 521
R-HSA-2681667 TNC binds Integrin alphaVbeta3, alphaVbeta6, alpha2beta1, alpha7beta1, alpha8beta1, alpha9beta1, alphaXbeta1
R-HSA-216051 Integrin alpha6beta1, alpha7beta1, alpha1beta1, alpha2beta1 bind laminin-111
R-NUL-3907289 Integrin alpha6beta1, alpha7beta1, alpha1beta1, alpha2beta1, alphaVbeta1 bind laminin-111
R-HSA-2467436 AGRN binds Integrins alphaVbeta1 (Other beta1-containing integrins)
R-HSA-3000157 Laminin interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-216083 Integrin cell surface interactions
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: B4E3U0, C9JMD3, C9JMZ6, ENST00000257879.1, ENST00000257879.10, ENST00000257879.2, ENST00000257879.3, ENST00000257879.4, ENST00000257879.5, ENST00000257879.6, ENST00000257879.7, ENST00000257879.8, ENST00000257879.9, ITA7_HUMAN, NM_002206, O43197, Q13683, Q86W93, Q9NY89, Q9UET0, Q9UEV2, uc317fzy.1, uc317fzy.2, UNQ406/PRO768
UCSC ID: ENST00000257879.11_10
RefSeq Accession: NM_002206.3
Protein: Q13683 (aka ITA7_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.