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UniProtKB - Q13683 (ITA7_HUMAN)

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Protein

Integrin alpha-7

Gene

ITGA7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.By similarity3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi372 – 380Sequence analysis9
Calcium bindingi434 – 442Sequence analysis9
Calcium bindingi492 – 500Sequence analysis9

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • cell-matrix adhesion Source: ProtInc
  • endodermal cell differentiation Source: UniProtKB
  • extracellular matrix organization Source: Reactome
  • heterotypic cell-cell adhesion Source: UniProtKB
  • integrin-mediated signaling pathway Source: UniProtKB-KW
  • muscle organ development Source: ProtInc
  • regulation of cell shape Source: UniProtKB-KW
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionIntegrin, Receptor
Biological processCell adhesion, Cell shape
LigandCalcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-216083 Integrin cell surface interactions
R-HSA-3000157 Laminin interactions
R-HSA-3000178 ECM proteoglycans
SignaLinkiQ13683
SIGNORiQ13683

Names & Taxonomyi

Protein namesi
Recommended name:
Integrin alpha-7
Cleaved into the following 3 chains:
Integrin alpha-7 heavy chain
Integrin alpha-7 light chain
Integrin alpha-7 70 kDa form
Gene namesi
Name:ITGA7
ORF Names:UNQ406/PRO768
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000135424.15
HGNCiHGNC:6143 ITGA7
MIMi600536 gene
neXtProtiNX_Q13683

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini34 – 1082ExtracellularSequence analysisAdd BLAST1049
Transmembranei1083 – 1103HelicalSequence analysisAdd BLAST21
Topological domaini1104 – 1181CytoplasmicSequence analysisAdd BLAST78

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Muscular dystrophy congenital due to integrin alpha-7 deficiency (MDCI)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613204

Keywords - Diseasei

Congenital muscular dystrophy

Organism-specific databases

DisGeNETi3679
GeneReviewsiITGA7
MalaCardsiITGA7
MIMi613204 phenotype
OpenTargetsiENSG00000135424
Orphaneti2020 Congenital fiber-type disproportion myopathy
34520 Congenital muscular dystrophy with integrin alpha-7 deficiency
PharmGKBiPA29943

Polymorphism and mutation databases

BioMutaiITGA7
DMDMi308153592

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 332 PublicationsAdd BLAST33
ChainiPRO_000001626734 – 1181Integrin alpha-7Add BLAST1148
ChainiPRO_000001626834 – 955Integrin alpha-7 heavy chainSequence analysisAdd BLAST922
ChainiPRO_0000398833648 – 1181Integrin alpha-7 70 kDa formAdd BLAST534
ChainiPRO_0000016269959 – 1181Integrin alpha-7 light chainSequence analysisAdd BLAST223

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi86N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi94 ↔ 103By similarity
Disulfide bondi140 ↔ 163By similarity
Disulfide bondi184 ↔ 197By similarity
Disulfide bondi539 ↔ 546By similarity
Disulfide bondi552 ↔ 615By similarity
Disulfide bondi681 ↔ 687By similarity
Disulfide bondi781 ↔ 792By similarity
Glycosylationi786N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi939 ↔ 994Interchain (between heavy and light chains)By similarity
Glycosylationi989N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1001 ↔ 1006By similarity
Glycosylationi1025N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi1045N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

ADP-ribosylated on at least two sites of the extracellular domain in skeletal myotubes.By similarity
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.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei647 – 648Cleavage; by urokinase2

Keywords - PTMi

ADP-ribosylation, Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ13683
MaxQBiQ13683
PaxDbiQ13683
PeptideAtlasiQ13683
PRIDEiQ13683
ProteomicsDBi59654
59655 [Q13683-10]
59656 [Q13683-13]
59657 [Q13683-3]
59658 [Q13683-7]
59659 [Q13683-9]

PTM databases

iPTMnetiQ13683
PhosphoSitePlusiQ13683

Expressioni

Tissue specificityi

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.1 Publication

Developmental stagei

In renewing intestinal epithelium, expression of isoforms containing segment B correlates with the onset of enterocytic differentiation.

Gene expression databases

BgeeiENSG00000135424
CleanExiHS_ITGA7
ExpressionAtlasiQ13683 baseline and differential
GenevisibleiQ13683 HS

Organism-specific databases

HPAiHPA008427

Interactioni

Subunit structurei

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.By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
FHL2Q141922EBI-2565284,EBI-701903

Protein-protein interaction databases

BioGridi109885, 39 interactors
ComplexPortaliCPX-1804 Integrin alpha7-beta1 complex
CORUMiQ13683
DIPiDIP-5981N
IntActiQ13683, 1 interactor
MINTiQ13683
STRINGi9606.ENSP00000452120

Structurei

3D structure databases

ProteinModelPortaliQ13683
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati35 – 103FG-GAP 1PROSITE-ProRule annotationAdd BLAST69
Repeati110 – 175FG-GAP 2PROSITE-ProRule annotationAdd BLAST66
Repeati185 – 238FG-GAP 3PROSITE-ProRule annotationAdd BLAST54
Repeati292 – 349FG-GAP 4PROSITE-ProRule annotationAdd BLAST58
Repeati350 – 411FG-GAP 5PROSITE-ProRule annotationAdd BLAST62
Repeati412 – 467FG-GAP 6PROSITE-ProRule annotationAdd BLAST56
Repeati471 – 530FG-GAP 7PROSITE-ProRule annotationAdd BLAST60
Repeati1157 – 116014
Repeati1165 – 116824
Repeati1173 – 117634

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1157 – 11763 X 4 AA repeats of D-X-H-PAdd BLAST20

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi1107 – 1111GFFKR motif5

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi953 – 958Poly-Arg6

Sequence similaritiesi

Belongs to the integrin alpha chain family.Curated

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IPBB Eukaryota
ENOG410XVGZ LUCA
GeneTreeiENSGT00760000118782
HOVERGENiHBG108011
InParanoidiQ13683
KOiK06583
OMAiTSWWPVS
OrthoDBiEOG091G012D
PhylomeDBiQ13683
TreeFamiTF105391

Family and domain databases

Gene3Di2.130.10.130, 2 hits
InterProiView protein in InterPro
IPR013517 FG-GAP
IPR013519 Int_alpha_beta-p
IPR000413 Integrin_alpha
IPR013649 Integrin_alpha-2
IPR018184 Integrin_alpha_C_CS
IPR028994 Integrin_alpha_N
IPR032695 Integrin_dom_sf
PfamiView protein in Pfam
PF01839 FG-GAP, 2 hits
PF08441 Integrin_alpha2, 1 hit
PRINTSiPR01185 INTEGRINA
SMARTiView protein in SMART
SM00191 Int_alpha, 5 hits
SUPFAMiSSF69179 SSF69179, 3 hits
PROSITEiView protein in PROSITE
PS51470 FG_GAP, 7 hits
PS00242 INTEGRIN_ALPHA, 1 hit

Sequences (6)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist. There is a combination of at least five alternatively spliced domains, three extracellular (X1, X2 and D) and two cytoplasmic (A and B). A third potential alternatively spliced cytoplasmic domain (C) does not appear to be expressed.
Isoform Alpha-7X1X2B (identifier: Q13683-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAGARSRDPW GASGICYLFG SLLVELLFSR AVAFNLDVMG ALRKEGEPGS 
        60         70         80         90        100
LFGFSVALHR QLQPRPQSWL LVGAPQALAL PGQQANRTGG LFACPLSLEE 
       110        120        130        140        150
TDCYRVDIDQ GADMQKESKE NQWLGVSVRS QGPGGKIVTC AHRYEARQRV 
       160        170        180        190        200
DQILETRDMI GRCFVLSQDL AIRDELDGGE WKFCEGRPQG HEQFGFCQQG 
       210        220        230        240        250
TAAAFSPDSH YLLFGAPGTY NWKGTARVEL CAQGSADLAH LDDGPYEAGG 
       260        270        280        290        300
EKEQDPRLIP VPANSYFGLL FVTNIDSSDP DQLVYKTLDP ADRLPGPAGD 
       310        320        330        340        350
LALNSYLGFS IDSGKGLVRA EELSFVAGAP RANHKGAVVI LRKDSASRLV 
       360        370        380        390        400
PEVMLSGERL TSGFGYSLAV ADLNSDGWPD LIVGAPYFFE RQEELGGAVY 
       410        420        430        440        450
VYLNQGGHWA GISPLRLCGS PDSMFGISLA VLGDLNQDGF PDIAVGAPFD 
       460        470        480        490        500
GDGKVFIYHG SSLGVVAKPS QVLEGEAVGI KSFGYSLSGS LDMDGNQYPD 
       510        520        530        540        550
LLVGSLADTA VLFRARPILH VSHEVSIAPR SIDLEQPNCA GGHSVCVDLR 
       560        570        580        590        600
VCFSYIAVPS SYSPTVALDY VLDADTDRRL RGQVPRVTFL SRNLEEPKHQ 
       610        620        630        640        650
ASGTVWLKHQ HDRVCGDAMF QLQENVKDKL RAIVVTLSYS LQTPRLRRQA 
       660        670        680        690        700
PGQGLPPVAP ILNAHQPSTQ RAEIHFLKQG CGEDKICQSN LQLVRARFCT 
       710        720        730        740        750
RVSDTEFQPL PMDVDGTTAL FALSGQPVIG LELMVTNLPS DPAQPQADGD 
       760        770        780        790        800
DAHEAQLLVM LPDSLHYSGV RALDPAEKPL CLSNENASHV ECELGNPMKR 
       810        820        830        840        850
GAQVTFYLIL STSGISIETT ELEVELLLAT ISEQELHPVS ARARVFIELP 
       860        870        880        890        900
LSIAGMAIPQ QLFFSGVVRG ERAMQSERDV GSKVKYEVTV SNQGQSLRTL 
       910        920        930        940        950
GSAFLNIMWP HEIANGKWLL YPMQVELEGG QGPGQKGLCS PRPNILHLDV 
       960        970        980        990       1000
DSRDRRRREL EPPEQQEPGE RQEPSMSWWP VSSAEKKKNI TLDCARGTAN 
      1010       1020       1030       1040       1050
CVVFSCPLYS FDRAAVLHVW GRLWNSTFLE EYSAVKSLEV IVRANITVKS 
      1060       1070       1080       1090       1100
SIKNLMLRDA STVIPVMVYL DPMAVVAEGV PWWVILLAVL AGLLVLALLV 
      1110       1120       1130       1140       1150
LLLWKMGFFK RAKHPEATVP QYHAVKIPRE DRQQFKEEKT GTILRNNWGS 
      1160       1170       1180 
PRREGPDAHP ILAADGHPEL GPDGHPGPGT A
Note: Gene prediction based on similarity to mouse ortholog.
Length:1,181
Mass (Da):128,948
Last modified:October 5, 2010 - v3
Checksum:i341C0C72CDB8CA57
GO
Isoform Alpha-7X1B (identifier: Q13683-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     268-307: Missing.

Show »
Length:1,141
Mass (Da):124,690
Checksum:i156565867C8DC8FB
GO
Isoform Alpha-7X2B (identifier: Q13683-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     224-267: Missing.

Show »
Length:1,137
Mass (Da):124,307
Checksum:i43AB97240F469166
GO
Isoform Alpha-7X2DB (identifier: Q13683-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     702-776: Missing.

Show »
Length:1,106
Mass (Da):121,065
Checksum:iCF40297895F88BD2
GO
Isoform Alpha-7X1X2A (identifier: Q13683-10) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1106-1181: MGFFKRAKHP...PDGHPGPGTA → CGFFHRSSQS...PRPPCPSTMR

Show »
Length:1,162
Mass (Da):126,631
Checksum:iFC25805EDFC23D68
GO
Isoform 2 (identifier: Q13683-13) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-97: Missing.
     98-138: LEETDCYRVD...RSQGPGGKIV → MAPFATPMVQ...TRRSPFEGKE
     268-307: Missing.

Show »
Length:1,044
Mass (Da):114,545
Checksum:i84DF3FB44EE2A31D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti873A → T in AAC18968 (PubMed:9590299).Curated1
Sequence conflicti1005S → I in AAC18968 (PubMed:9590299).Curated1
Sequence conflicti1013R → H in AAH50280 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067015457I → V1 PublicationCorresponds to variant dbSNP:rs17857367Ensembl.1
Natural variantiVAR_067016506L → M1 PublicationCorresponds to variant dbSNP:rs17854599Ensembl.1
Natural variantiVAR_067017586R → H1 PublicationCorresponds to variant dbSNP:rs17854598Ensembl.1
Natural variantiVAR_014759695R → H6 PublicationsCorresponds to variant dbSNP:rs1800974Ensembl.1
Natural variantiVAR_067018696A → V1 PublicationCorresponds to variant dbSNP:rs17855684Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0404871 – 97Missing in isoform 2. 1 PublicationAdd BLAST97
Alternative sequenceiVSP_04048898 – 138LEETD…GGKIV → MAPFATPMVQALTTTRIQRQ AEGFQCWRECGTRRSPFEGK E in isoform 2. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_002727224 – 267Missing in isoform Alpha-7X2B. 4 PublicationsAdd BLAST44
Alternative sequenceiVSP_002728268 – 307Missing in isoform Alpha-7X1B and isoform 2. 2 PublicationsAdd BLAST40
Alternative sequenceiVSP_042364702 – 776Missing in isoform Alpha-7X2DB. 1 PublicationAdd BLAST75
Alternative sequenceiVSP_0027301106 – 1181MGFFK…GPGTA → CGFFHRSSQSSSFPTNYHRA CLAVQPSAMEVGGPGTVGWD SSNGRSTPRPPCPSTMR in isoform Alpha-7X1X2A. 1 PublicationAdd BLAST76

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF032108 mRNA Translation: AAC39708.1
AF052050 mRNA Translation: AAC18968.1
AF072132 mRNA Translation: AAC80458.1
AJ228836
, AJ228837, AJ228838, AJ228839, AJ228840, AJ228842, AJ228843, AJ228844, AJ228845, AJ228846, AJ228847, AJ228848, AJ228849, AJ228850, AJ228851, AJ228852, AJ228853, AJ228854, AJ228855, AJ228856, AJ228857, AJ228858, AJ228859, AJ228860, AJ228862 Genomic DNA Translation: CAB41534.1
AJ228836
, AJ228837, AJ228838, AJ228839, AJ228841, AJ228842, AJ228843, AJ228844, AJ228845, AJ228846, AJ228847, AJ228848, AJ228849, AJ228850, AJ228851, AJ228852, AJ228853, AJ228854, AJ228855, AJ228856, AJ228857, AJ228858, AJ228859, AJ228860, AJ228862 Genomic DNA Translation: CAB41535.1
AY358882 mRNA Translation: AAQ89241.1
AK304864 mRNA Translation: BAG65602.1
AC009779 Genomic DNA No translation available.
BC050280 mRNA Translation: AAH50280.1
X74295 mRNA Translation: CAA52348.1
AF034833 mRNA Translation: AAB87696.1
CCDSiCCDS44914.1 [Q13683-13]
CCDS55832.1 [Q13683-3]
CCDS8888.1 [Q13683-7]
PIRiJC5950
RefSeqiNP_001138468.1, NM_001144996.1 [Q13683-3]
NP_001138469.1, NM_001144997.1 [Q13683-13]
NP_002197.2, NM_002206.2 [Q13683-7]
XP_005268896.1, XM_005268839.1 [Q13683-1]
XP_005268898.1, XM_005268841.1 [Q13683-10]
UniGeneiHs.524484

Genome annotation databases

EnsembliENST00000257879; ENSP00000257879; ENSG00000135424 [Q13683-7]
ENST00000452168; ENSP00000393844; ENSG00000135424 [Q13683-13]
ENST00000553804; ENSP00000452120; ENSG00000135424 [Q13683-3]
ENST00000555728; ENSP00000452387; ENSG00000135424 [Q13683-1]
GeneIDi3679
KEGGihsa:3679
UCSCiuc001shg.4 human [Q13683-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiITA7_HUMAN
AccessioniPrimary (citable) accession number: Q13683
Secondary accession number(s): B4E3U0
, C9JMD3, C9JMZ6, O43197, Q86W93, Q9NY89, Q9UET0, Q9UEV2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: October 5, 2010
Last modified: July 18, 2018
This is version 181 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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