Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3675
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol ITGA3   Gene   UCSC   Ensembl
Aliases CD49C, FRP-2, GAP-B3, GAPB3, ILNEB, MSK18, VCA-2, VL3A, VLA3a
Gene name integrin subunit alpha 3
Alternate names integrin alpha-3, CD49 antigen-like family member C, alpha 3 subunit of VLA-3 receptor, antigen CD49C, antigen identified by monoclonal antibody J143, galactoprotein B3, integrin alpha 3, integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor), testi,
Gene location 17q21.33 (50055967: 50090484)     Exons: 26     NC_000017.11
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 as cell surface adhesion molecules. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 3 subunit. This subunit joins with a beta 1 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. Expression of this gene may be correlated with breast cancer metastasis. [provided by RefSeq, Oct 2015]
OMIM 605025

Protein Summary

Protein general information P26006  

Name: Integrin alpha 3 (CD49 antigen like family member C) (FRP 2) (Galactoprotein B3) (GAPB3) (VLA 3 subunit alpha) (CD antigen CD49c) [Cleaved into: Integrin alpha 3 heavy chain; Integrin alpha 3 light chain]

Length: 1051  Mass: 116,612

Tissue specificity: Isoform 1 is widely expressed. Isoform 2 is expressed in brain and heart. In brain, both isoforms are exclusively expressed on vascular smooth muscle cells, whereas in heart isoform 1 is strongly expressed on vascular smooth muscle cel

Sequence MGPGPSRAPRAPRLMLCALALMVAAGGCVVSAFNLDTRFLVVKEAGNPGSLFGYSVALHRQTERQQRYLLLAGAP
RELAVPDGYTNRTGAVYLCPLTAHKDDCERMNITVKNDPGHHIIEDMWLGVTVASQGPAGRVLVCAHRYTQVLWS
GSEDQRRMVGKCYVRGNDLELDSSDDWQTYHNEMCNSNTDYLETGMCQLGTSGGFTQNTVYFGAPGAYNWKGNSY
MIQRKEWDLSEYSYKDPEDQGNLYIGYTMQVGSFILHPKNITIVTGAPRHRHMGAVFLLSQEAGGDLRRRQVLEG
SQVGAYFGSAIALADLNNDGWQDLLVGAPYYFERKEEVGGAIYVFMNQAGTSFPAHPSLLLHGPSGSAFGLSVAS
IGDINQDGFQDIAVGAPFEGLGKVYIYHSSSKGLLRQPQQVIHGEKLGLPGLATFGYSLSGQMDVDENFYPDLLV
GSLSDHIVLLRARPVINIVHKTLVPRPAVLDPALCTATSCVQVELCFAYNQSAGNPNYRRNITLAYTLEADRDRR
PPRLRFAGSESAVFHGFFSMPEMRCQKLELLLMDNLRDKLRPIIISMNYSLPLRMPDRPRLGLRSLDAYPILNQA
QALENHTEVQFQKECGPDNKCESNLQMRAAFVSEQQQKLSRLQYSRDVRKLLLSINVTNTRTSERSGEDAHEALL
TLVVPPALLLSSVRPPGACQANETIFCELGNPFKRNQRMELLIAFEVIGVTLHTRDLQVQLQLSTSSHQDNLWPM
ILTLLVDYTLQTSLSMVNHRLQSFFGGTVMGESGMKTVEDVGSPLKYEFQVGPMGEGLVGLGTLVLGLEWPYEVS
NGKWLLYPTEITVHGNGSWPCRPPGDLINPLNLTLSDPGDRPSSPQRRRRQLDPGGGQGPPPVTLAAAKKAKSET
VLTCATGRAHCVWLECPIPDAPVVTNVTVKARVWNSTFIEDYRDFDRVRVNGWATLFLRTSIPTINMENKTTWFS
VDIDSELVEELPAEIELWLVLVAVGAGLLLLGLIILLLWKCGFFKRARTRALYEAKRQKAEMKSQPSETERLTDD
Y
Structural information

Motifs
GFFKR motif.(1017-1021)
Interpro:  IPR013517 IPR013519 IPR000413 IPR013649 IPR018184 IPR032695
Prosite:   PS51470 PS00242

Pfam:  
PF01839 PF08441

DIP:  
140
MINT:   140288
STRING:   ENSP00000007722;
Other Databases GeneCards:  ITGA3;  Malacards:  ITGA3

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001764 neuron migration
IEA biological_process
GO:0001948 glycoprotein binding
IPI molecular_function
GO:0001968 fibronectin binding
IEA molecular_function
GO:0002020 protease binding
IPI 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:0005518 collagen binding
IEA 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:0005925 focal adhesion
IDA cellular_component
GO:0007160 cell-matrix adhesion
TAS biological_process
GO:0007229 integrin-mediated signali
ng pathway
IEA biological_process
GO:0007507 heart development
IEA biological_process
GO:0007613 memory
IEA biological_process
GO:0008305 integrin complex
TAS cellular_component
GO:0009897 external side of plasma m
embrane
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:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0010628 positive regulation of ge
ne expression
IEA biological_process
GO:0010634 positive regulation of ep
ithelial cell migration
IEA biological_process
GO:0010811 positive regulation of ce
ll-substrate adhesion
IEA biological_process
GO:0010976 positive regulation of ne
uron projection developme
nt
IEA biological_process
GO:0016323 basolateral plasma membra
ne
IEA cellular_component
GO:0017015 regulation of transformin
g growth factor beta rece
ptor signaling pathway
IMP biological_process
GO:0019904 protein domain specific b
inding
IEA molecular_function
GO:0030111 regulation of Wnt signali
ng pathway
IMP biological_process
GO:0030198 extracellular matrix orga
nization
TAS biological_process
GO:0030324 lung development
IMP biological_process
GO:0030426 growth cone
IEA cellular_component
GO:0030510 regulation of BMP signali
ng pathway
IMP biological_process
GO:0031345 negative regulation of ce
ll projection organizatio
n
IEA biological_process
GO:0031527 filopodium membrane
IDA cellular_component
GO:0034667 integrin alpha3-beta1 com
plex
IMP cellular_component
GO:0034667 integrin alpha3-beta1 com
plex
IDA cellular_component
GO:0034698 response to gonadotropin
IEA biological_process
GO:0035024 negative regulation of Rh
o protein signal transduc
tion
IEA biological_process
GO:0035640 exploration behavior
IEA biological_process
GO:0042493 response to drug
IEA biological_process
GO:0043235 receptor complex
IDA cellular_component
GO:0043236 laminin binding
IEA molecular_function
GO:0043588 skin development
IMP biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0046982 protein heterodimerizatio
n activity
IDA molecular_function
GO:0048333 mesodermal cell different
iation
IEP biological_process
GO:0048471 perinuclear region of cyt
oplasm
IEA cellular_component
GO:0050900 leukocyte migration
TAS biological_process
GO:0060076 excitatory synapse
IEA cellular_component
GO:0060135 maternal process involved
in female pregnancy
IEA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071438 invadopodium membrane
IDA cellular_component
GO:0071944 cell periphery
IDA cellular_component
GO:0072006 nephron development
IMP biological_process
GO:0090004 positive regulation of es
tablishment of protein lo
calization to plasma memb
rane
IDA biological_process
GO:0097060 synaptic membrane
IEA cellular_component
GO:0097062 dendritic spine maintenan
ce
IEA biological_process
GO:0097205 renal filtration
IMP biological_process
GO:0001764 neuron migration
IEA biological_process
GO:0001948 glycoprotein binding
IPI molecular_function
GO:0001968 fibronectin binding
IEA molecular_function
GO:0002020 protease binding
IPI 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:0005518 collagen binding
IEA molecular_function
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:0005925 focal adhesion
IDA cellular_component
GO:0007155 cell adhesion
IEA biological_process
GO:0007155 cell adhesion
IEA biological_process
GO:0007155 cell adhesion
IEA biological_process
GO:0007160 cell-matrix adhesion
TAS biological_process
GO:0007229 integrin-mediated signali
ng pathway
IEA biological_process
GO:0007507 heart development
IEA biological_process
GO:0007613 memory
IEA biological_process
GO:0008305 integrin complex
IEA cellular_component
GO:0008305 integrin complex
TAS cellular_component
GO:0009897 external side of plasma m
embrane
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:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0010628 positive regulation of ge
ne expression
IEA biological_process
GO:0010634 positive regulation of ep
ithelial cell migration
IEA biological_process
GO:0010811 positive regulation of ce
ll-substrate adhesion
IEA biological_process
GO:0010976 positive regulation of ne
uron projection developme
nt
IEA 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:0017015 regulation of transformin
g growth factor beta rece
ptor signaling pathway
IMP biological_process
GO:0019904 protein domain specific b
inding
IEA molecular_function
GO:0030054 cell junction
IEA cellular_component
GO:0030111 regulation of Wnt signali
ng pathway
IMP biological_process
GO:0030198 extracellular matrix orga
nization
TAS biological_process
GO:0030324 lung development
IMP biological_process
GO:0030426 growth cone
IEA cellular_component
GO:0030510 regulation of BMP signali
ng pathway
IMP biological_process
GO:0031345 negative regulation of ce
ll projection organizatio
n
IEA biological_process
GO:0031527 filopodium membrane
IEA cellular_component
GO:0031527 filopodium membrane
IDA cellular_component
GO:0034667 integrin alpha3-beta1 com
plex
IEA cellular_component
GO:0034667 integrin alpha3-beta1 com
plex
IMP cellular_component
GO:0034667 integrin alpha3-beta1 com
plex
IDA cellular_component
GO:0034698 response to gonadotropin
IEA biological_process
GO:0035024 negative regulation of Rh
o protein signal transduc
tion
IEA biological_process
GO:0035640 exploration behavior
IEA biological_process
GO:0042493 response to drug
IEA biological_process
GO:0042995 cell projection
IEA cellular_component
GO:0043235 receptor complex
IDA cellular_component
GO:0043236 laminin binding
IEA molecular_function
GO:0043588 skin development
IMP biological_process
GO:0044708 single-organism behavior
IEA biological_process
GO:0045202 synapse
IEA cellular_component
GO:0046872 metal ion binding
IEA molecular_function
GO:0046982 protein heterodimerizatio
n activity
IEA molecular_function
GO:0046982 protein heterodimerizatio
n activity
IDA molecular_function
GO:0048333 mesodermal cell different
iation
IEP biological_process
GO:0048471 perinuclear region of cyt
oplasm
IEA cellular_component
GO:0050900 leukocyte migration
TAS biological_process
GO:0060076 excitatory synapse
IEA cellular_component
GO:0060135 maternal process involved
in female pregnancy
IEA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071438 invadopodium membrane
IEA cellular_component
GO:0071438 invadopodium membrane
IDA cellular_component
GO:0071944 cell periphery
IDA cellular_component
GO:0072006 nephron development
IMP biological_process
GO:0090004 positive regulation of es
tablishment of protein lo
calization to plasma memb
rane
IDA biological_process
GO:0097060 synaptic membrane
IEA cellular_component
GO:0097062 dendritic spine maintenan
ce
IEA biological_process
GO:0097205 renal filtration
IMP biological_process
GO:0001948 glycoprotein binding
IPI molecular_function
GO:0002020 protease binding
IPI 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:0005925 focal adhesion
IDA cellular_component
GO:0007160 cell-matrix adhesion
TAS biological_process
GO:0008305 integrin complex
TAS 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:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0017015 regulation of transformin
g growth factor beta rece
ptor signaling pathway
IMP biological_process
GO:0030111 regulation of Wnt signali
ng pathway
IMP biological_process
GO:0030198 extracellular matrix orga
nization
TAS biological_process
GO:0030324 lung development
IMP biological_process
GO:0030510 regulation of BMP signali
ng pathway
IMP biological_process
GO:0031527 filopodium membrane
IDA cellular_component
GO:0034667 integrin alpha3-beta1 com
plex
IMP cellular_component
GO:0034667 integrin alpha3-beta1 com
plex
IDA cellular_component
GO:0043235 receptor complex
IDA cellular_component
GO:0043588 skin development
IMP biological_process
GO:0046982 protein heterodimerizatio
n activity
IDA molecular_function
GO:0048333 mesodermal cell different
iation
IEP biological_process
GO:0050900 leukocyte migration
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071438 invadopodium membrane
IDA cellular_component
GO:0071944 cell periphery
IDA cellular_component
GO:0072006 nephron development
IMP biological_process
GO:0090004 positive regulation of es
tablishment of protein lo
calization to plasma memb
rane
IDA biological_process
GO:0097205 renal filtration
IMP biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04810  Regulation of actin cytoskeleton
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
Atherosclerosis PMID: 15194015
Adenomyosis PMID: 9392916
Endometriosis PMID: 17291260
Ischemic heart disease PMID: 15351855
Myocardial infarction PMID: 12615788
Pelvic endometriosis PMID: 12916266
Pelvic endometriosis PMID: 12916266
Pelvic endometriosis INFBASE12916266
Adenomyosis INFBASE9392916
Endometriosis INFBASE8976878
Recurrent miscarriage PMID: 14666169
Schizophrenia PMID: 18384059

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
12916266 Endometrio
sis (Pelvi
c)

32 (23 infertil
ity, 11 pelvic
pain)

Show abstract
17291260 Endometrio
sis


Ln-5
alpha3beta1
Show abstract
8976878 Endometrio
sis


Integrin alpha 3
integrin alpha 6
Show abstract
10027624 Endometrio
sis

39 (30 patients
with ectopic e
ndometrium, 9
cases in the co
rresponding eut
opic endometriu
m)
integrin alpha3
Show abstract
9392916 Endometrio
sis

46 (24 patients
with endometri
osis, 22 patien
ts with adenomy
osis)
VLA-2
VLA-3
VLA-4
VLA-5
VLA-6
E-cadherin
Show abstract