Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3383
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol ICAM1   Gene   UCSC   Ensembl
Aliases BB2, CD54, P3.58
Gene name intercellular adhesion molecule 1
Alternate names intercellular adhesion molecule 1, ICAM-1, cell surface glycoprotein P3.58, intercellular adhesion molecule 1 (CD54), human rhinovirus receptor, major group rhinovirus receptor,
Gene location 19p13.2 (10270840: 10286614)     Exons: 7     NC_000019.10
Gene summary(Entrez) This gene encodes a cell surface glycoprotein which is typically expressed on endothelial cells and cells of the immune system. It binds to integrins of type CD11a / CD18, or CD11b / CD18 and is also exploited by Rhinovirus as a receptor. [provided by RefSeq, Jul 2008]
OMIM 147840

SNPs

rs1799969

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000681.2   g.10284116G>A
NC_000019.10   g.10284116G>A
NC_000019.9   g.10394792G>A
NG_007728.1   g.2143G>A
NG_012083.1   g.18276G>A
NM_000201.2   c.721G>A
NP_000192.2   p.Gly241Arg
XP_005259946.1   p.Gly152Arg
XR_001753867.1   n.-642C>T
rs5498

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000681.2   g.10285007A>G
NC_000019.10   g.10285007A>G
NC_000019.9   g.10395683A>G
NG_007728.1   g.3034A>G
NG_012083.1   g.19167A>G
NM_000201.2   c.1405A>G
NM_001039132.2   c.-2006A>G
NM_001544.4   c.-2006A>G
NM_022377.3   c.-2006A>G
NP_000192.2   p.Lys469Glu
XP_005259946.1   p.Lys380Glu
XP_005259947.1   p.Lys247Glu
XR_001753867.1   n.-1533T>C

Protein Summary

Protein general information P05362  

Name: Intercellular adhesion molecule 1 (ICAM 1) (Major group rhinovirus receptor) (CD antigen CD54)

Length: 532  Mass: 57,825

Sequence MAPSSPRPALPALLVLLGALFPGPGNAQTSVSPSKVILPRGGSVLVTCSTSCDQPKLLGIETPLPKKELLLPGNN
RKVYELSNVQEDSQPMCYSNCPDGQSTAKTFLTVYWTPERVELAPLPSWQPVGKNLTLRCQVEGGAPRANLTVVL
LRGEKELKREPAVGEPAEVTTTVLVRRDHHGANFSCRTELDLRPQGLELFENTSAPYQLQTFVLPATPPQLVSPR
VLEVDTQGTVVCSLDGLFPVSEAQVHLALGDQRLNPTVTYGNDSFSAKASVSVTAEDEGTQRLTCAVILGNQSQE
TLQTVTIYSFPAPNVILTKPEVSEGTEVTVKCEAHPRAKVTLNGVPAQPLGPRAQLLLKATPEDNGRSFSCSATL
EVAGQLIHKNQTRELRVLYGPRLDERDCPGNWTWPENSQQTPMCQAWGNPLPELKCLKDGTFPLPIGESVTVTRD
LEGTYLCRARSTQGEVTRKVTVNVLSPRYEIVIITVVAAAVIMGTAGLSTYLYNRQRKIKKYRLQQAQKGTPMKP
NTQATPP
Structural information
Protein Domains
Ig-like (41-103)
Ig-like (128-193)
Ig-like (230-297)
Ig-like (325-378)
Ig-like (412-464)

Motifs
Cell attachment(152-154)
({ECO:0000255}.-)
Interpro:  IPR003988 IPR013768 IPR003987 IPR007110 IPR013783 IPR003599

Pfam:  
PF03921

PDB:  
1D3E 1D3I 1D3L 1IAM 1IC1 1IJ4 1MQ8 1P53 1Z7Z 2OZ4 3TCX 5MZA
PDBsum:   1D3E 1D3I 1D3L 1IAM 1IC1 1IJ4 1MQ8 1P53 1Z7Z 2OZ4 3TCX 5MZA

DIP:  
36658
MINT:   4053071
STRING:   ENSP00000264832;
Other Databases GeneCards:  ICAM1;  Malacards:  ICAM1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001541 ovarian follicle developm
ent
IEA biological_process
GO:0001618 virus receptor activity
IEA molecular_function
GO:0001772 immunological synapse
IEA cellular_component
GO:0001910 regulation of leukocyte m
ediated cytotoxicity
TAS biological_process
GO:0001975 response to amphetamine
IEA biological_process
GO:0002291 T cell activation via T c
ell receptor contact with
antigen bound to MHC mol
ecule on antigen presenti
ng cell
IMP biological_process
GO:0002438 acute inflammatory respon
se to antigenic stimulus
IEA biological_process
GO:0002457 T cell antigen processing
and presentation
IEA biological_process
GO:0002693 positive regulation of ce
llular extravasation
IMP biological_process
GO:0004872 receptor activity
TAS molecular_function
GO:0004888 transmembrane signaling r
eceptor activity
TAS molecular_function
GO:0005178 integrin binding
IPI molecular_function
GO:0005178 integrin binding
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005615 extracellular space
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0007155 cell adhesion
IDA biological_process
GO:0007157 heterophilic cell-cell ad
hesion via plasma membran
e cell adhesion molecules
TAS biological_process
GO:0007159 leukocyte cell-cell adhes
ion
IMP biological_process
GO:0007569 cell aging
IEA biological_process
GO:0007605 sensory perception of sou
nd
IEA biological_process
GO:0008360 regulation of cell shape
IEA biological_process
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:0010212 response to ionizing radi
ation
IEA biological_process
GO:0010477 response to sulfur dioxid
e
IEA biological_process
GO:0014070 response to organic cycli
c compound
IEA biological_process
GO:0016020 membrane
IDA cellular_component
GO:0022614 membrane to membrane dock
ing
IEP biological_process
GO:0030155 regulation of cell adhesi
on
IEA biological_process
GO:0030198 extracellular matrix orga
nization
TAS biological_process
GO:0030838 positive regulation of ac
tin filament polymerizati
on
IEA biological_process
GO:0031669 cellular response to nutr
ient levels
IEA biological_process
GO:0033627 cell adhesion mediated by
integrin
IEA biological_process
GO:0034698 response to gonadotropin
IEA biological_process
GO:0042493 response to drug
IEA biological_process
GO:0043200 response to amino acid
IEA biological_process
GO:0043547 positive regulation of GT
Pase activity
IEA biological_process
GO:0044406 adhesion of symbiont to h
ost
IDA biological_process
GO:0045121 membrane raft
IEA cellular_component
GO:0045429 positive regulation of ni
tric oxide biosynthetic p
rocess
IEA biological_process
GO:0045471 response to ethanol
IEA biological_process
GO:0045907 positive regulation of va
soconstriction
IEA biological_process
GO:0046688 response to copper ion
IEA biological_process
GO:0046718 viral entry into host cel
l
IEA biological_process
GO:0046813 receptor-mediated virion
attachment to host cell
IDA biological_process
GO:0050731 positive regulation of pe
ptidyl-tyrosine phosphory
lation
IEA biological_process
GO:0050776 regulation of immune resp
onse
TAS biological_process
GO:0050900 leukocyte migration
IEP biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IEA biological_process
GO:0051926 negative regulation of ca
lcium ion transport
IEA biological_process
GO:0060333 interferon-gamma-mediated
signaling pathway
TAS biological_process
GO:0061028 establishment of endothel
ial barrier
IGI biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IMP biological_process
GO:0071222 cellular response to lipo
polysaccharide
IEA biological_process
GO:0071312 cellular response to alka
loid
IEA biological_process
GO:0071333 cellular response to gluc
ose stimulus
IEA biological_process
GO:0071347 cellular response to inte
rleukin-1
IEA biological_process
GO:0071356 cellular response to tumo
r necrosis factor
IEA biological_process
GO:0071456 cellular response to hypo
xia
IEA biological_process
GO:0097368 establishment of Sertoli
cell barrier
IEA biological_process
GO:1900027 regulation of ruffle asse
mbly
IEA biological_process
GO:1902042 negative regulation of ex
trinsic apoptotic signali
ng pathway via death doma
in receptors
IDA biological_process
GO:2000352 negative regulation of en
dothelial cell apoptotic
process
IDA biological_process
GO:0001541 ovarian follicle developm
ent
IEA biological_process
GO:0001618 virus receptor activity
IEA molecular_function
GO:0001666 response to hypoxia
IEA biological_process
GO:0001772 immunological synapse
IEA cellular_component
GO:0001910 regulation of leukocyte m
ediated cytotoxicity
TAS biological_process
GO:0001975 response to amphetamine
IEA biological_process
GO:0002291 T cell activation via T c
ell receptor contact with
antigen bound to MHC mol
ecule on antigen presenti
ng cell
IMP biological_process
GO:0002438 acute inflammatory respon
se to antigenic stimulus
IEA biological_process
GO:0002457 T cell antigen processing
and presentation
IEA biological_process
GO:0002693 positive regulation of ce
llular extravasation
IMP biological_process
GO:0004872 receptor activity
TAS molecular_function
GO:0004888 transmembrane signaling r
eceptor activity
TAS molecular_function
GO:0005178 integrin binding
IEA molecular_function
GO:0005178 integrin binding
IPI molecular_function
GO:0005178 integrin binding
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
NAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma 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
IDA biological_process
GO:0007157 heterophilic cell-cell ad
hesion via plasma membran
e cell adhesion molecules
TAS biological_process
GO:0007159 leukocyte cell-cell adhes
ion
IEA biological_process
GO:0007159 leukocyte cell-cell adhes
ion
IMP biological_process
GO:0007569 cell aging
IEA biological_process
GO:0007605 sensory perception of sou
nd
IEA biological_process
GO:0008360 regulation of cell shape
IEA biological_process
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:0010212 response to ionizing radi
ation
IEA biological_process
GO:0010477 response to sulfur dioxid
e
IEA biological_process
GO:0014070 response to organic cycli
c compound
IEA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016032 viral process
IEA biological_process
GO:0016337 single organismal cell-ce
ll adhesion
IEA biological_process
GO:0016337 single organismal cell-ce
ll adhesion
IEA biological_process
GO:0022614 membrane to membrane dock
ing
IEP biological_process
GO:0030155 regulation of cell adhesi
on
IEA biological_process
GO:0030198 extracellular matrix orga
nization
TAS biological_process
GO:0030838 positive regulation of ac
tin filament polymerizati
on
IEA biological_process
GO:0031669 cellular response to nutr
ient levels
IEA biological_process
GO:0032403 protein complex binding
IEA molecular_function
GO:0032496 response to lipopolysacch
aride
IEA biological_process
GO:0033627 cell adhesion mediated by
integrin
IEA biological_process
GO:0034698 response to gonadotropin
IEA biological_process
GO:0042493 response to drug
IEA biological_process
GO:0043200 response to amino acid
IEA biological_process
GO:0043547 positive regulation of GT
Pase activity
IEA biological_process
GO:0044406 adhesion of symbiont to h
ost
IDA biological_process
GO:0045121 membrane raft
IEA cellular_component
GO:0045429 positive regulation of ni
tric oxide biosynthetic p
rocess
IEA biological_process
GO:0045471 response to ethanol
IEA biological_process
GO:0045907 positive regulation of va
soconstriction
IEA biological_process
GO:0046688 response to copper ion
IEA biological_process
GO:0046718 viral entry into host cel
l
IEA biological_process
GO:0046813 receptor-mediated virion
attachment to host cell
IDA biological_process
GO:0050731 positive regulation of pe
ptidyl-tyrosine phosphory
lation
IEA biological_process
GO:0050776 regulation of immune resp
onse
TAS biological_process
GO:0050900 leukocyte migration
IEP biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IEA biological_process
GO:0051926 negative regulation of ca
lcium ion transport
IEA biological_process
GO:0060333 interferon-gamma-mediated
signaling pathway
TAS biological_process
GO:0061028 establishment of endothel
ial barrier
IGI biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IMP biological_process
GO:0071222 cellular response to lipo
polysaccharide
IEA biological_process
GO:0071310 cellular response to orga
nic substance
IEA biological_process
GO:0071312 cellular response to alka
loid
IEA biological_process
GO:0071333 cellular response to gluc
ose stimulus
IEA biological_process
GO:0071347 cellular response to inte
rleukin-1
IEA biological_process
GO:0071356 cellular response to tumo
r necrosis factor
IEA biological_process
GO:0071456 cellular response to hypo
xia
IEA biological_process
GO:0097368 establishment of Sertoli
cell barrier
IEA biological_process
GO:1900027 regulation of ruffle asse
mbly
IEA biological_process
GO:1902042 negative regulation of ex
trinsic apoptotic signali
ng pathway via death doma
in receptors
IDA biological_process
GO:2000352 negative regulation of en
dothelial cell apoptotic
process
IDA biological_process
GO:0001910 regulation of leukocyte m
ediated cytotoxicity
TAS biological_process
GO:0002291 T cell activation via T c
ell receptor contact with
antigen bound to MHC mol
ecule on antigen presenti
ng cell
IMP biological_process
GO:0002693 positive regulation of ce
llular extravasation
IMP biological_process
GO:0004872 receptor activity
TAS molecular_function
GO:0004888 transmembrane signaling r
eceptor activity
TAS molecular_function
GO:0005178 integrin binding
IPI molecular_function
GO:0005178 integrin binding
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005615 extracellular space
IDA cellular_component
GO:0005886 plasma membrane
NAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0007155 cell adhesion
IDA biological_process
GO:0007157 heterophilic cell-cell ad
hesion via plasma membran
e cell adhesion molecules
TAS biological_process
GO:0007159 leukocyte cell-cell adhes
ion
IMP biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0022614 membrane to membrane dock
ing
IEP biological_process
GO:0030198 extracellular matrix orga
nization
TAS biological_process
GO:0044406 adhesion of symbiont to h
ost
IDA biological_process
GO:0046813 receptor-mediated virion
attachment to host cell
IDA biological_process
GO:0050776 regulation of immune resp
onse
TAS biological_process
GO:0050900 leukocyte migration
IEP biological_process
GO:0060333 interferon-gamma-mediated
signaling pathway
TAS biological_process
GO:0061028 establishment of endothel
ial barrier
IGI biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IMP biological_process
GO:1902042 negative regulation of ex
trinsic apoptotic signali
ng pathway via death doma
in receptors
IDA biological_process
GO:2000352 negative regulation of en
dothelial cell apoptotic
process
IDA biological_process

KEGG pathways

hsa05166  HTLV-I infection
hsa05167  Kaposi's sarcoma-associated herpesvirus infection
hsa05169  Epstein-Barr virus infection
hsa05418  Fluid shear stress and atherosclerosis
hsa05164  Influenza A
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04668  TNF signaling pathway
hsa04514  Cell adhesion molecules
hsa04650  Natural killer cell mediated cytotoxicity
hsa05323  Rheumatoid arthritis
hsa04064  NF-kappa B signaling pathway
hsa04670  Leukocyte transendothelial migration
hsa05144  Malaria
hsa05416  Viral myocarditis
hsa05143  African trypanosomiasis
hsa05150  Staphylococcus aureus infection

Diseases

Associated diseases References
Allergies PMID: 11354638
Alzheimer's disease PMID: 15854776
Amyotrophic lateral sclerosis (ALS) PMID: 18513389
Arthritis PMID: 11981324
Behcet's disease PMID: 19906207
Biliary Atresia PMID: 18401716
Cancer PMID: 19822019
Celiac disease PMID: 16916657
Cerebrovascular disease PMID: 12871600
Cholangitis PMID: 16750586
Chronic kidney failure PMID: 19497039
Chronic obstructive pulmonary disease (COPD) PMID: 19625176
Crohn's disease PMID: 15958080
Defective endometrial receptivity PMID: 25935494
Diabetes PMID: 19587357
Diabetic retinopathy PMID: 12027924
Endometriosis PMID: 11716965
Endometriosis PMID: 12551787
Erythema nodosum PMID: 14760823
Gastroschisis PMID: 17051589
Glomerulonephritis PMID: 19420105
Graves disease PMID: 14557478
Graves ophthalmopathy PMID: 17521325
Hyperandrogenism PMID: 27381237
Inflammatory bowel disease PMID: 12477764
Kidney disease PMID: 18627514
Male immune infertility PMID: 25597177
Melanoma PMID: 16313300
Migraine disorders PMID: 19559392
Multiple sclerosis PMID: 12590979
Multiple system atrophy PMID: 15607204
Ovarian hyperstimulation syndrome(OHSS) PMID: 16028375
Pancreatitis PMID: 15917409
Pelvic endometriosis PMID: 11937115
Periodontitis PMID: 16512757
Polycystic ovary syndrome (PCOS) PMID: 16968464
Polymyalgia rheumatica PMID: 10813290
Premature birth PMID: 18851856
Pelvic endometriosis INFBASE11937115
Female infertility INFBASE11326914
Endometriosis associated infertility INFBASE9848307
Endometriosis INFBASE9848307
Recurrent miscarriage PMID: 26368793
Restenosis PMID: 14975197
Rheumatoid arthritis PMID: 11508575
Schizophrenia PMID: 15756053
Vascular dementia PMID: 12095649

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
11716965 Endometrio
sis

22 (10 endometr
iosis patients,
12 controls)
CD54
Show abstract
11326914 Endometrio
sis

45 (15 endometr
ium and 15 endo
metriotic tissu
es of patients
with endometrio
sis, 30 endomet
rium from non-e
ndometriosis su
bjects)
Female infertility Integrin beta 3
ICAM
Show abstract
19661147 Endometrio
sis


ICAM1
MMP9
TNF
MMP1
Show abstract
14688178 Endometrio
sis

374 (176 subjec
ts with surgica
lly confirmed e
ndometriosis (1
34 patients wit
h stage I-II an
d 42 patients w
ith stage III-I
V), 198 control
s)

Show abstract
9848307 Endometrio
sis

71 (36 patients
with endometri
osis served as
cases, 35 pati
ents without en
dometriosis)
Female infertility ICAM-1
IFN-gamma
Show abstract
15212674 Endometrio
sis

8 women with mo
derate to sever
e stages of end
ometriosis

Show abstract
20422421 Endometrio
sis
ICAM-1 (codon 241 polymorphisms) Iranian
204 (84 unrelat
ed patients, 12
0 consecutive u
nrelated health
y controls)
ICAM-1
Show abstract
16938116 Endometrio
sis
IL-6 -634C/G, ICAM-1 469K/E Japanes
e
438 (202 patien
ts with endomet
riosis, 236 con
trol women)
IL-6
ICAM-1
Show abstract
12529420 Endometrio
sis
ICAM-1 (codons 241 (G/R241), 469 (E/K469)) Italian
Caucas
ian
363 (188 women
with endometrio
sis, 175 subje
cts without end
ometriosis)
ICAM-1
Show abstract
11963839 Endometrio
sis


VCAM-1
ICAM-1
Show abstract
22736326 Endometrio
sis

353 (121 contro
ls without endo
metriosis at la
paroscopy and f
rom 232 women w
ith endometrios
is (minimal-mil
d n = 148; mode
rate-severe n =
84))
Annexin V
VEGF
CA-125 and sICAM-1
glycodelin
Show abstract
10224799 Endometrio
sis


ICAM-1
E-Selectin
Show abstract
12551787 Endometrio
sis

86 (67 patients
with endometri
osis, 19 contro
ls)
ICAM-1
Show abstract
11937115 Endometrio
sis (Pelvi
c)
Japanes
e
54 (28 women wi
th endometriosi
s, 26 women wit
hout endometrio
sis)
ICAM-1
KIR
Show abstract