Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Search Result


Gene id 10859
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol LILRB1   Gene   UCSC   Ensembl
Aliases CD85J, ILT-2, ILT2, LIR-1, LIR1, MIR-7, MIR7, PIR-B, PIRB
Gene name leukocyte immunoglobulin like receptor B1
Alternate names leukocyte immunoglobulin-like receptor subfamily B member 1, CD85 antigen-like family member J, Ig-like transcript 2, leucocyte Ig-like receptor B1, leukocyte immunoglobulin-like receptor subfamily B member 1 soluble isoform, leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1, monocyte/macrophage immunoglobulin-like receptor 7, myeloid inhibitory receptor 7,
Gene location 19q13.42 (54616929: 54637924)     Exons: 16     NC_000019.10
Gene summary(Entrez) This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
OMIM 604811

Protein Summary

Protein general information Q8NHL6  

Name: Leukocyte immunoglobulin-like receptor subfamily B member 1 (LIR-1) (Leukocyte immunoglobulin-like receptor 1) (CD85 antigen-like family member J) (Immunoglobulin-like transcript 2) (ILT-2) (Monocyte/macrophage immunoglobulin-like receptor 7) (MIR-7) (CD

Length: 650  Mass: 70,819

Tissue specificity: Expressed predominantly on B-cells and monocytes, and at lower levels on dendritic cells. Detected on a low percentage of T-cells and natural killer (NK) cells. {ECO

Sequence MTPILTVLICLGLSLGPRTHVQAGHLPKPTLWAEPGSVITQGSPVTLRCQGGQETQEYRLYREKKTALWITRIPQ
ELVKKGQFPIPSITWEHAGRYRCYYGSDTAGRSESSDPLELVVTGAYIKPTLSAQPSPVVNSGGNVILQCDSQVA
FDGFSLCKEGEDEHPQCLNSQPHARGSSRAIFSVGPVSPSRRWWYRCYAYDSNSPYEWSLPSDLLELLVLGVSKK
PSLSVQPGPIVAPEETLTLQCGSDAGYNRFVLYKDGERDFLQLAGAQPQAGLSQANFTLGPVSRSYGGQYRCYGA
HNLSSEWSAPSDPLDILIAGQFYDRVSLSVQPGPTVASGENVTLLCQSQGWMQTFLLTKEGAADDPWRLRSTYQS
QKYQAEFPMGPVTSAHAGTYRCYGSQSSKPYLLTHPSDPLELVVSGPSGGPSSPTTGPTSTSGPEDQPLTPTGSD
PQSGLGRHLGVVIGILVAVILLLLLLLLLFLILRHRRQGKHWTSTQRKADFQHPAGAVGPEPTDRGLQWRSSPAA
DAQEENLYAAVKHTQPEDGVEMDTRSPHDEDPQAVTYAEVKHSRPRREMASPPSPLSGEFLDTKDRQAEEDRQMD
TEAAASEAPQDVTYAQLHSLTLRREATEPPPSQEGPSPAVPSIYATLAIH
Structural information
Protein Domains
Ig-like (27-115)
Ig-like (116-221)
Ig-like (222-312)
Ig-like (313-409)

Motifs
ITIM motif(531-536)
ITIM motif(560-565)
ITIM motif(612-617)
ITIM motif(642-647)
Interpro:  IPR007110 IPR036179 IPR013783 IPR003599 IPR003598 IPR013151
Prosite:   PS50835

Pfam:  
PF00047 PF13895

PDB:  
1G0X 1P7Q 1UFU 1UGN 1VDG 3D2U 4LL9 4NO0 5KNM
PDBsum:   1G0X 1P7Q 1UFU 1UGN 1VDG 3D2U 4LL9 4NO0 5KNM
MINT:  
STRING:   ENSP00000315997;
Other Databases GeneCards:  LILRB1;  Malacards:  LILRB1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001915 negative regulation of T
cell mediated cytotoxicit
y
IDA biological_process
GO:0002230 positive regulation of de
fense response to virus b
y host
IDA biological_process
GO:0002250 adaptive immune response
IEA biological_process
GO:0002309 T cell proliferation invo
lved in immune response
IDA biological_process
GO:0002740 negative regulation of cy
tokine secretion involved
in immune response
IDA biological_process
GO:0002767 immune response-inhibitin
g cell surface receptor s
ignaling pathway
NAS biological_process
GO:0002774 Fc receptor mediated inhi
bitory signaling pathway
IDA biological_process
GO:0005576 extracellular region
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0007165 signal transduction
IDA biological_process
GO:0008157 protein phosphatase 1 bin
ding
IPI molecular_function
GO:0008157 protein phosphatase 1 bin
ding
IPI molecular_function
GO:0008157 protein phosphatase 1 bin
ding
IPI molecular_function
GO:0008157 protein phosphatase 1 bin
ding
IPI molecular_function
GO:0009615 response to virus
IDA biological_process
GO:0009615 response to virus
IDA biological_process
GO:0009615 response to virus
IDA biological_process
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0014063 negative regulation of se
rotonin secretion
IDA biological_process
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0030107 HLA-A specific inhibitory
MHC class I receptor act
ivity
IDA molecular_function
GO:0030109 HLA-B specific inhibitory
MHC class I receptor act
ivity
IDA molecular_function
GO:0031623 receptor internalization
TAS biological_process
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032609 interferon-gamma producti
on
IDA biological_process
GO:0032689 negative regulation of in
terferon-gamma production
IDA biological_process
GO:0032945 negative regulation of mo
nonuclear cell proliferat
ion
IDA biological_process
GO:0035548 negative regulation of in
terferon-beta secretion
IDA biological_process
GO:0042130 negative regulation of T
cell proliferation
IDA biological_process
GO:0042169 SH2 domain binding
IDA molecular_function
GO:0042288 MHC class I protein bindi
ng
IPI molecular_function
GO:0042288 MHC class I protein bindi
ng
IDA molecular_function
GO:0042288 MHC class I protein bindi
ng
IPI molecular_function
GO:0042288 MHC class I protein bindi
ng
IMP molecular_function
GO:0042288 MHC class I protein bindi
ng
IDA molecular_function
GO:0042288 MHC class I protein bindi
ng
IPI molecular_function
GO:0042288 MHC class I protein bindi
ng
IPI molecular_function
GO:0042288 MHC class I protein bindi
ng
IDA molecular_function
GO:0042288 MHC class I protein bindi
ng
IMP molecular_function
GO:0042288 MHC class I protein bindi
ng
IPI molecular_function
GO:0042288 MHC class I protein bindi
ng
IDA molecular_function
GO:0042536 negative regulation of tu
mor necrosis factor biosy
nthetic process
IDA biological_process
GO:0042803 protein homodimerization
activity
IPI molecular_function
GO:0043065 positive regulation of ap
optotic process
IDA biological_process
GO:0045077 negative regulation of in
terferon-gamma biosynthet
ic process
IDA biological_process
GO:0045786 negative regulation of ce
ll cycle
IDA biological_process
GO:0045806 negative regulation of en
docytosis
IDA biological_process
GO:0045919 positive regulation of cy
tolysis
IDA biological_process
GO:0045919 positive regulation of cy
tolysis
IMP biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
NAS biological_process
GO:0045953 negative regulation of na
tural killer cell mediate
d cytotoxicity
IDA biological_process
GO:0046636 negative regulation of al
pha-beta T cell activatio
n
IDA biological_process
GO:0050776 regulation of immune resp
onse
TAS biological_process
GO:0051607 defense response to virus
IDA biological_process
GO:0051926 negative regulation of ca
lcium ion transport
IDA biological_process
GO:0071222 cellular response to lipo
polysaccharide
IEP biological_process
GO:0072643 interferon-gamma secretio
n
IDA biological_process
GO:0097028 dendritic cell differenti
ation
IEP biological_process
GO:2000669 negative regulation of de
ndritic cell apoptotic pr
ocess
IDA biological_process
GO:2001180 negative regulation of in
terleukin-10 secretion
IDA biological_process
GO:2001183 negative regulation of in
terleukin-12 secretion
IDA biological_process
GO:2001186 negative regulation of CD
8-positive, alpha-beta T
cell activation
IDA biological_process
GO:2001189 negative regulation of T
cell activation via T cel
l receptor contact with a
ntigen bound to MHC molec
ule on antigen presenting
cell
IDA biological_process
GO:2001193 positive regulation of ga
mma-delta T cell activati
on involved in immune res
ponse
IDA biological_process
GO:2001199 negative regulation of de
ndritic cell differentiat
ion
IMP biological_process
GO:2001202 negative regulation of tr
ansforming growth factor-
beta secretion
IDA biological_process
GO:2001205 negative regulation of os
teoclast development
IDA biological_process
GO:0001915 negative regulation of T
cell mediated cytotoxicit
y
IDA biological_process
GO:0002230 positive regulation of de
fense response to virus b
y host
IDA biological_process
GO:0002250 adaptive immune response
IEA biological_process
GO:0002309 T cell proliferation invo
lved in immune response
IDA biological_process
GO:0002376 immune system process
IEA biological_process
GO:0002740 negative regulation of cy
tokine secretion involved
in immune response
IDA biological_process
GO:0002767 immune response-inhibitin
g cell surface receptor s
ignaling pathway
NAS biological_process
GO:0002774 Fc receptor mediated inhi
bitory signaling pathway
IDA biological_process
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0007165 signal transduction
IDA biological_process
GO:0008157 protein phosphatase 1 bin
ding
IPI molecular_function
GO:0008157 protein phosphatase 1 bin
ding
IPI molecular_function
GO:0008157 protein phosphatase 1 bin
ding
IPI molecular_function
GO:0008157 protein phosphatase 1 bin
ding
IPI molecular_function
GO:0009615 response to virus
IDA biological_process
GO:0009615 response to virus
IDA biological_process
GO:0009615 response to virus
IDA biological_process
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0014063 negative regulation of se
rotonin secretion
IDA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0030107 HLA-A specific inhibitory
MHC class I receptor act
ivity
IDA molecular_function
GO:0030109 HLA-B specific inhibitory
MHC class I receptor act
ivity
IDA molecular_function
GO:0031623 receptor internalization
TAS biological_process
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032609 interferon-gamma producti
on
IDA biological_process
GO:0032689 negative regulation of in
terferon-gamma production
IDA biological_process
GO:0032945 negative regulation of mo
nonuclear cell proliferat
ion
IDA biological_process
GO:0035548 negative regulation of in
terferon-beta secretion
IDA biological_process
GO:0042130 negative regulation of T
cell proliferation
IDA biological_process
GO:0042169 SH2 domain binding
IDA molecular_function
GO:0042288 MHC class I protein bindi
ng
IPI molecular_function
GO:0042288 MHC class I protein bindi
ng
IDA molecular_function
GO:0042288 MHC class I protein bindi
ng
IPI molecular_function
GO:0042288 MHC class I protein bindi
ng
IMP molecular_function
GO:0042288 MHC class I protein bindi
ng
IDA molecular_function
GO:0042288 MHC class I protein bindi
ng
IPI molecular_function
GO:0042288 MHC class I protein bindi
ng
IPI molecular_function
GO:0042288 MHC class I protein bindi
ng
IDA molecular_function
GO:0042288 MHC class I protein bindi
ng
IMP molecular_function
GO:0042288 MHC class I protein bindi
ng
IPI molecular_function
GO:0042288 MHC class I protein bindi
ng
IDA molecular_function
GO:0042536 negative regulation of tu
mor necrosis factor biosy
nthetic process
IDA biological_process
GO:0042803 protein homodimerization
activity
IPI molecular_function
GO:0043065 positive regulation of ap
optotic process
IDA biological_process
GO:0045077 negative regulation of in
terferon-gamma biosynthet
ic process
IDA biological_process
GO:0045786 negative regulation of ce
ll cycle
IDA biological_process
GO:0045806 negative regulation of en
docytosis
IDA biological_process
GO:0045919 positive regulation of cy
tolysis
IDA biological_process
GO:0045919 positive regulation of cy
tolysis
IMP biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
NAS biological_process
GO:0045953 negative regulation of na
tural killer cell mediate
d cytotoxicity
IDA biological_process
GO:0046636 negative regulation of al
pha-beta T cell activatio
n
IDA biological_process
GO:0050776 regulation of immune resp
onse
TAS biological_process
GO:0051607 defense response to virus
IDA biological_process
GO:0051926 negative regulation of ca
lcium ion transport
IDA biological_process
GO:0071222 cellular response to lipo
polysaccharide
IEP biological_process
GO:0072643 interferon-gamma secretio
n
IDA biological_process
GO:0097028 dendritic cell differenti
ation
IEP biological_process
GO:2000669 negative regulation of de
ndritic cell apoptotic pr
ocess
IDA biological_process
GO:2001180 negative regulation of in
terleukin-10 secretion
IDA biological_process
GO:2001183 negative regulation of in
terleukin-12 secretion
IDA biological_process
GO:2001186 negative regulation of CD
8-positive, alpha-beta T
cell activation
IDA biological_process
GO:2001189 negative regulation of T
cell activation via T cel
l receptor contact with a
ntigen bound to MHC molec
ule on antigen presenting
cell
IDA biological_process
GO:2001193 positive regulation of ga
mma-delta T cell activati
on involved in immune res
ponse
IDA biological_process
GO:2001199 negative regulation of de
ndritic cell differentiat
ion
IMP biological_process
GO:2001202 negative regulation of tr
ansforming growth factor-
beta secretion
IDA biological_process
GO:2001205 negative regulation of os
teoclast development
IDA biological_process
GO:0001915 negative regulation of T
cell mediated cytotoxicit
y
IDA biological_process
GO:0002230 positive regulation of de
fense response to virus b
y host
IDA biological_process
GO:0002309 T cell proliferation invo
lved in immune response
IDA biological_process
GO:0002740 negative regulation of cy
tokine secretion involved
in immune response
IDA biological_process
GO:0002767 immune response-inhibitin
g cell surface receptor s
ignaling pathway
NAS biological_process
GO:0002774 Fc receptor mediated inhi
bitory signaling pathway
IDA biological_process
GO:0005737 cytoplasm
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0007165 signal transduction
IDA biological_process
GO:0008157 protein phosphatase 1 bin
ding
IPI molecular_function
GO:0008157 protein phosphatase 1 bin
ding
IPI molecular_function
GO:0008157 protein phosphatase 1 bin
ding
IPI molecular_function
GO:0008157 protein phosphatase 1 bin
ding
IPI molecular_function
GO:0009615 response to virus
IDA biological_process
GO:0009615 response to virus
IDA biological_process
GO:0009615 response to virus
IDA biological_process
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0014063 negative regulation of se
rotonin secretion
IDA biological_process
GO:0030107 HLA-A specific inhibitory
MHC class I receptor act
ivity
IDA molecular_function
GO:0030109 HLA-B specific inhibitory
MHC class I receptor act
ivity
IDA molecular_function
GO:0031623 receptor internalization
TAS biological_process
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032393 MHC class I receptor acti
vity
IDA molecular_function
GO:0032609 interferon-gamma producti
on
IDA biological_process
GO:0032689 negative regulation of in
terferon-gamma production
IDA biological_process
GO:0032945 negative regulation of mo
nonuclear cell proliferat
ion
IDA biological_process
GO:0035548 negative regulation of in
terferon-beta secretion
IDA biological_process
GO:0042130 negative regulation of T
cell proliferation
IDA biological_process
GO:0042169 SH2 domain binding
IDA molecular_function
GO:0042288 MHC class I protein bindi
ng
IPI molecular_function
GO:0042288 MHC class I protein bindi
ng
IDA molecular_function
GO:0042288 MHC class I protein bindi
ng
IPI molecular_function
GO:0042288 MHC class I protein bindi
ng
IMP molecular_function
GO:0042288 MHC class I protein bindi
ng
IDA molecular_function
GO:0042288 MHC class I protein bindi
ng
IPI molecular_function
GO:0042288 MHC class I protein bindi
ng
IPI molecular_function
GO:0042288 MHC class I protein bindi
ng
IDA molecular_function
GO:0042288 MHC class I protein bindi
ng
IMP molecular_function
GO:0042288 MHC class I protein bindi
ng
IPI molecular_function
GO:0042288 MHC class I protein bindi
ng
IDA molecular_function
GO:0042536 negative regulation of tu
mor necrosis factor biosy
nthetic process
IDA biological_process
GO:0042803 protein homodimerization
activity
IPI molecular_function
GO:0043065 positive regulation of ap
optotic process
IDA biological_process
GO:0045077 negative regulation of in
terferon-gamma biosynthet
ic process
IDA biological_process
GO:0045786 negative regulation of ce
ll cycle
IDA biological_process
GO:0045806 negative regulation of en
docytosis
IDA biological_process
GO:0045919 positive regulation of cy
tolysis
IDA biological_process
GO:0045919 positive regulation of cy
tolysis
IMP biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
NAS biological_process
GO:0045953 negative regulation of na
tural killer cell mediate
d cytotoxicity
IDA biological_process
GO:0046636 negative regulation of al
pha-beta T cell activatio
n
IDA biological_process
GO:0050776 regulation of immune resp
onse
TAS biological_process
GO:0051607 defense response to virus
IDA biological_process
GO:0051926 negative regulation of ca
lcium ion transport
IDA biological_process
GO:0071222 cellular response to lipo
polysaccharide
IEP biological_process
GO:0072643 interferon-gamma secretio
n
IDA biological_process
GO:0097028 dendritic cell differenti
ation
IEP biological_process
GO:2000669 negative regulation of de
ndritic cell apoptotic pr
ocess
IDA biological_process
GO:2001180 negative regulation of in
terleukin-10 secretion
IDA biological_process
GO:2001183 negative regulation of in
terleukin-12 secretion
IDA biological_process
GO:2001186 negative regulation of CD
8-positive, alpha-beta T
cell activation
IDA biological_process
GO:2001189 negative regulation of T
cell activation via T cel
l receptor contact with a
ntigen bound to MHC molec
ule on antigen presenting
cell
IDA biological_process
GO:2001193 positive regulation of ga
mma-delta T cell activati
on involved in immune res
ponse
IDA biological_process
GO:2001199 negative regulation of de
ndritic cell differentiat
ion
IMP biological_process
GO:2001202 negative regulation of tr
ansforming growth factor-
beta secretion
IDA biological_process
GO:2001205 negative regulation of os
teoclast development
IDA biological_process

KEGG pathways

hsa04380  Osteoclast differentiation

Diseases

Associated diseases References
Lupus erythematosus GAD16014635
Diabetes GAD20628086
Endometriosis PubMed29234882

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
29234882 Endometrio
sis
HLA-G rs1233334, LILRB1 rs41308748:AA and LILRB2 rs383369
590(276 patient
s with endometr
iosis, 314 heal
thy fertile wom
en)
HLA-G
KIR2DL4
 LILRB1 and LILRB2
Show abstract