Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3655
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol ITGA6   Gene   UCSC   Ensembl
Aliases CD49f, ITGA6B, VLA-6
Gene name integrin subunit alpha 6
Alternate names integrin alpha-6, CD49 antigen-like family member F, integrin alpha6B, integrin, alpha 6,
Gene location 2q31.1 (172427353: 172506454)     Exons: 28     NC_000002.12
Gene summary(Entrez) The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
OMIM 147556

Protein Summary

Protein general information P23229  

Name: Integrin alpha 6 (CD49 antigen like family member F) (VLA 6) (CD antigen CD49f) [Cleaved into: Integrin alpha 6 heavy chain; Integrin alpha 6 light chain; Processed integrin alpha 6 (Alpha6p)]

Length: 1130  Mass: 126,606

Tissue specificity: Integrin alpha-6/beta-4 is predominantly expressed by epithelia. Isoforms containing segment X1 are ubiquitously expressed. Isoforms containing segment X1X2 are expressed in heart, kidney, placenta, colon, duodenum, myoblasts and myotu

Sequence MAAAGQLCLLYLSAGLLSRLGAAFNLDTREDNVIRKYGDPGSLFGFSLAMHWQLQPEDKRLLLVGAPRAEALPLQ
RANRTGGLYSCDITARGPCTRIEFDNDADPTSESKEDQWMGVTVQSQGPGGKVVTCAHRYEKRQHVNTKQESRDI
FGRCYVLSQNLRIEDDMDGGDWSFCDGRLRGHEKFGSCQQGVAATFTKDFHYIVFGAPGTYNWKGIVRVEQKNNT
FFDMNIFEDGPYEVGGETEHDESLVPVPANSYLGLLFLTSVSYTDPDQFVYKTRPPREQPDTFPDVMMNSYLGFS
LDSGKGIVSKDEITFVSGAPRANHSGAVVLLKRDMKSAHLLPEHIFDGEGLASSFGYDVAVVDLNKDGWQDIVIG
APQYFDRDGEVGGAVYVYMNQQGRWNNVKPIRLNGTKDSMFGIAVKNIGDINQDGYPDIAVGAPYDDLGKVFIYH
GSANGINTKPTQVLKGISPYFGYSIAGNMDLDRNSYPDVAVGSLSDSVTIFRSRPVINIQKTITVTPNRIDLRQK
TACGAPSGICLQVKSCFEYTANPAGYNPSISIVGTLEAEKERRKSGLSSRVQFRNQGSEPKYTQELTLKRQKQKV
CMEETLWLQDNIRDKLRPIPITASVEIQEPSSRRRVNSLPEVLPILNSDEPKTAHIDVHFLKEGCGDDNVCNSNL
KLEYKFCTREGNQDKFSYLPIQKGVPELVLKDQKDIALEITVTNSPSNPRNPTKDGDDAHEAKLIATFPDTLTYS
AYRELRAFPEKQLSCVANQNGSQADCELGNPFKRNSNVTFYLVLSTTEVTFDTPDLDINLKLETTSNQDNLAPIT
AKAKVVIELLLSVSGVAKPSQVYFGGTVVGEQAMKSEDEVGSLIEYEFRVINLGKPLTNLGTATLNIQWPKEISN
GKWLLYLVKVESKGLEKVTCEPQKEINSLNLTESHNSRKKREITEKQIDDNRKFSLFAERKYQTLNCSVNVNCVN
IRCPLRGLDSKASLILRSRLWNSTFLEEYSKLNYLDILMRAFIDVTAAAENIRLPNAGTQVRVTVFPSKTVAQYS
GVPWWIILVAILAGILMLALLVFILWKCGFFKRSRYDDSVPRYHAVRIRKEEREIKDEKYIDNLEKKQWITKWNE
NESYS
Structural information

Motifs
GFFKR motif.(1079-1083)
Interpro:  IPR013517 IPR013519 IPR000413 IPR013649 IPR018184 IPR032695
Prosite:   PS51470 PS00242

Pfam:  
PF01839 PF08441
MINT:   5002506
STRING:   ENSP00000386896;
Other Databases GeneCards:  ITGA6;  Malacards:  ITGA6

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005178 integrin binding
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005604 basement membrane
IEA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0007044 cell-substrate junction a
ssembly
TAS biological_process
GO:0007160 cell-matrix adhesion
IEA biological_process
GO:0007229 integrin-mediated signali
ng pathway
IEA biological_process
GO:0008305 integrin complex
IEA cellular_component
GO:0009897 external side of plasma m
embrane
IEA cellular_component
GO:0009925 basal plasma membrane
IEA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0010668 ectodermal cell different
iation
IEP biological_process
GO:0022409 positive regulation of ce
ll-cell adhesion
IEA biological_process
GO:0030056 hemidesmosome
IEA cellular_component
GO:0030198 extracellular matrix orga
nization
TAS biological_process
GO:0031581 hemidesmosome assembly
TAS biological_process
GO:0031589 cell-substrate adhesion
IMP biological_process
GO:0031668 cellular response to extr
acellular stimulus
IEA biological_process
GO:0033627 cell adhesion mediated by
integrin
IEA biological_process
GO:0035878 nail development
IMP biological_process
GO:0042327 positive regulation of ph
osphorylation
IMP biological_process
GO:0043065 positive regulation of ap
optotic process
IGI biological_process
GO:0043547 positive regulation of GT
Pase activity
IMP biological_process
GO:0043588 skin development
IMP biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IMP biological_process
GO:0046847 filopodium assembly
IEA biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0048565 digestive tract developme
nt
IMP biological_process
GO:0050873 brown fat cell differenti
ation
IEA biological_process
GO:0050900 leukocyte migration
TAS biological_process
GO:0072001 renal system development
IMP biological_process
GO:0097186 amelogenesis
IMP biological_process
GO:2001237 negative regulation of ex
trinsic apoptotic signali
ng pathway
IMP biological_process
GO:0031994 insulin-like growth facto
r I binding
IDA molecular_function
GO:0038132 neuregulin binding
IDA molecular_function
GO:0005178 integrin binding
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005604 basement membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0007044 cell-substrate junction a
ssembly
TAS biological_process
GO:0007155 cell adhesion
IEA biological_process
GO:0007155 cell adhesion
IEA biological_process
GO:0007160 cell-matrix adhesion
IEA biological_process
GO:0007229 integrin-mediated signali
ng pathway
IEA biological_process
GO:0008305 integrin complex
IEA cellular_component
GO:0008305 integrin complex
IEA cellular_component
GO:0009897 external side of plasma m
embrane
IEA cellular_component
GO:0009925 basal plasma membrane
IEA cellular_component
GO:0009986 cell surface
IEA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0010668 ectodermal cell different
iation
IEP biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016323 basolateral plasma membra
ne
IEA cellular_component
GO:0022409 positive regulation of ce
ll-cell adhesion
IEA biological_process
GO:0030056 hemidesmosome
IEA cellular_component
GO:0030198 extracellular matrix orga
nization
TAS biological_process
GO:0031581 hemidesmosome assembly
TAS biological_process
GO:0031589 cell-substrate adhesion
IMP biological_process
GO:0031668 cellular response to extr
acellular stimulus
IEA biological_process
GO:0033627 cell adhesion mediated by
integrin
IEA biological_process
GO:0035878 nail development
IMP biological_process
GO:0042327 positive regulation of ph
osphorylation
IMP biological_process
GO:0042475 odontogenesis of dentin-c
ontaining tooth
IEA biological_process
GO:0043065 positive regulation of ap
optotic process
IGI biological_process
GO:0043547 positive regulation of GT
Pase activity
IMP biological_process
GO:0043588 skin development
IMP biological_process
GO:0045178 basal part of cell
IEA cellular_component
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IMP biological_process
GO:0046847 filopodium assembly
IEA biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0048565 digestive tract developme
nt
IMP biological_process
GO:0050873 brown fat cell differenti
ation
IEA biological_process
GO:0050900 leukocyte migration
IEA biological_process
GO:0050900 leukocyte migration
TAS biological_process
GO:0072001 renal system development
IMP biological_process
GO:0097186 amelogenesis
IMP biological_process
GO:2001237 negative regulation of ex
trinsic apoptotic signali
ng pathway
IMP biological_process
GO:0031994 insulin-like growth facto
r I binding
IDA molecular_function
GO:0038132 neuregulin binding
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0007044 cell-substrate junction a
ssembly
TAS biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0010668 ectodermal cell different
iation
IEP biological_process
GO:0030198 extracellular matrix orga
nization
TAS biological_process
GO:0031581 hemidesmosome assembly
TAS biological_process
GO:0031589 cell-substrate adhesion
IMP biological_process
GO:0035878 nail development
IMP biological_process
GO:0042327 positive regulation of ph
osphorylation
IMP biological_process
GO:0043065 positive regulation of ap
optotic process
IGI biological_process
GO:0043547 positive regulation of GT
Pase activity
IMP biological_process
GO:0043588 skin development
IMP biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IMP biological_process
GO:0048565 digestive tract developme
nt
IMP biological_process
GO:0050900 leukocyte migration
TAS biological_process
GO:0072001 renal system development
IMP biological_process
GO:0097186 amelogenesis
IMP biological_process
GO:2001237 negative regulation of ex
trinsic apoptotic signali
ng pathway
IMP biological_process
GO:0031994 insulin-like growth facto
r I binding
IDA molecular_function
GO:0038132 neuregulin binding
IDA molecular_function

KEGG pathways

hsa05200  Pathways in cancer
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa05145  Toxoplasmosis
hsa04810  Regulation of actin cytoskeleton
hsa04514  Cell adhesion molecules
hsa04640  Hematopoietic cell lineage
hsa05222  Small cell lung cancer
hsa05410  Hypertrophic cardiomyopathy
hsa04512  ECM-receptor interaction
hsa05414  Dilated cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy

Diseases

Associated diseases References
Azoospermia PMID: 20590666
Cancer PMID: 19767753
Uterine receptivity defects PMID: 10519628
Cutis laxa KEGG: H00557
Endometriosis PMID: 8976878
Epidermolysis bullosa OMIM: 147556
Oocyte maturity and follicular steroidogenesis PMID: 15526973
Endometriosis INFBASE8976878
Recurrent miscarriage PMID: 14666169

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
8976878 Endometrio
sis


Integrin alpha 3
integrin alpha 6
Show abstract