Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Search Result


Gene id 3811
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol KIR3DL1   Gene   UCSC   Ensembl
Aliases CD158E1, KIR, KIR3DL1/S1, NKAT-3, NKAT3, NKB1, NKB1B
Gene name killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
Alternate names killer cell immunoglobulin-like receptor 3DL1, CD158 antigen-like family member E, HLA-BW4-specific inhibitory NK cell receptor, KIR antigen 3DL1, killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1, natural killer-associated tran,
Gene location 19q13.42 (54816437: 54830777)     Exons: 9     NC_000019.10
Gene summary(Entrez) Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]
OMIM 604946

Protein Summary
Protein general information P43629  

Name: Killer cell immunoglobulin like receptor 3DL1 (CD158 antigen like family member E) (HLA BW4 specific inhibitory NK cell receptor) (MHC class I NK cell receptor) (Natural killer associated transcript 3) (NKAT 3) (p70 natural killer cell receptor clones CL

Length: 444  Mass: 49,098

Sequence MSLMVVSMACVGLFLVQRAGPHMGGQDKPFLSAWPSAVVPRGGHVTLRCHYRHRFNNFMLYKEDRIHIPIFHGRI
FQESFNMSPVTTAHAGNYTCRGSHPHSPTGWSAPSNPVVIMVTGNHRKPSLLAHPGPLVKSGERVILQCWSDIMF
EHFFLHKEGISKDPSRLVGQIHDGVSKANFSIGPMMLALAGTYRCYGSVTHTPYQLSAPSDPLDIVVTGPYEKPS
LSAQPGPKVQAGESVTLSCSSRSSYDMYHLSREGGAHERRLPAVRKVNRTFQADFPLGPATHGGTYRCFGSFRHS
PYEWSDPSDPLLVSVTGNPSSSWPSPTEPSSKSGNPRHLHILIGTSVVIILFILLLFFLLHLWCSNKKNAAVMDQ
EPAGNRTANSEDSDEQDPEEVTYAQLDHCVFTQRKITRPSQRPKTPPTDTILYTELPNAKPRSKVVSCP
Structural information
Protein Domains
 Ig-like (42-102)
Ig-like (137-202)
Ig-like (237-300)
Interpro:  IPR007110 IPR013783 IPR003599 IPR013151

Pfam:  		 PF00047

PDB:  		 3VH8 3WUW 5B38 5B39 5T6Z 5T70
PDBsum:   3VH8 3WUW 5B38 5B39 5T6Z 5T70
STRING:   ENSP00000375608;
Other Databases GeneCards:  KIR3DL1;  Malacards:  KIR3DL1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005887 integral component of pla
sma membrane
 NAS cellular_component
GO:0005887 integral component of pla
sma membrane
 NAS cellular_component
GO:0006955 immune response
 NAS biological_process
GO:0006955 immune response
 NAS biological_process
GO:0007165 signal transduction
 IEA biological_process
GO:0030109 HLA-B specific inhibitory
MHC class I receptor act
ivity
 NAS molecular_function
GO:0042267 natural killer cell media
ted cytotoxicity
 IMP biological_process
GO:0050776 regulation of immune resp
onse
 TAS biological_process
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005887 integral component of pla
sma membrane
 NAS cellular_component
GO:0005887 integral component of pla
sma membrane
 NAS cellular_component
GO:0006955 immune response
 NAS biological_process
GO:0006955 immune response
 NAS biological_process
GO:0007165 signal transduction
 IEA biological_process
GO:0016020 membrane
 IEA cellular_component
GO:0016021 integral component of mem
brane
 IEA cellular_component
GO:0030109 HLA-B specific inhibitory
MHC class I receptor act
ivity
 NAS molecular_function
GO:0042267 natural killer cell media
ted cytotoxicity
 IMP biological_process
GO:0050776 regulation of immune resp
onse
 TAS biological_process
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005887 integral component of pla
sma membrane
 NAS cellular_component
GO:0005887 integral component of pla
sma membrane
 NAS cellular_component
GO:0006955 immune response
 NAS biological_process
GO:0006955 immune response
 NAS biological_process
GO:0030109 HLA-B specific inhibitory
MHC class I receptor act
ivity
 NAS molecular_function
GO:0042267 natural killer cell media
ted cytotoxicity
 IMP biological_process
GO:0050776 regulation of immune resp
onse
 TAS biological_process

KEGG pathways

hsa04650  Natural killer cell mediated cytotoxicity
hsa04612  Antigen processing and presentation
hsa05332  Graft-versus-host disease

Diseases

Associated diseases References
Ankylosing spondylitis PMID: 16805919
Axial spondyloarthropathy PMID: 19850842
Cancer PMID: 19934297
Chorioretinitis PMID: 18340360
Diabetes PMID: 19046302
Endometriosis PMID: 17997746
Graves disease PMID: 19664392
Multiple sclerosis PMID: 19421224
Osteoarthritis PMID: 19489269
Pelvic endometriosis PMID: 11937115
Polyangiitis PMID: 16508981
Endometriosis INFBASE17997746
Pelvic endometriosis INFBASE11937115
Psoriasis PMID: 18643961
Recurrent pregnancy loss (RPL)/ Abortion/ Miscarriage/ Recurrent pregnancy failure/Pregnancy loss/ Recurrent miscarriage/ Spontaneous abortion PMID: 19875891
Sjogren's syndrome PMID: 19181658
Systemic lupus erythematosus PMID: 18687225
Uveomeningo encephalitic syndrome PMID: 18571006
Vogt-Koyanagi-Harada syndrome PMID: 19897003

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17997746 Endometrio
sis
351 (186 patien
ts with endomet
riosis, 165 con
trol women)
 KIR
 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