Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3813
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol KIR3DS1   Gene   UCSC   Ensembl
Aliases CD158E2, KIR-123FM, KIR-G1, NKAT-10, NKAT10
Gene name killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1
Alternate names killer cell immunoglobulin-like receptor 3DS1, killer cell immunoglobulin-like receptor KIR3DS1, killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1, natural killer-associated transcript 10,
Gene location 19q13.4 (158248328: 158258268)     Exons: 8     NC_000001.11
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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
OMIM 0

Protein Summary
Protein general information Q14943  

Name: Killer cell immunoglobulin-like receptor 3DS1 (MHC class I NK cell receptor) (Natural killer-associated transcript 10) (NKAT-10)

Length: 382  Mass: 42,475

Tissue specificity: Expressed in NK and T-cell lines but not in B-lymphoblastoid cell lines or in a colon carcinoma cell line.

Sequence MLLMVVSMACVGLFLVQRAGPHMGGQDKPFLSAWPSAVVPRGGHVTLRCHYRHRFNNFMLYKEDRIHVPIFHGRI
FQEGFNMSPVTTAHAGNYTCRGSHPHSPTGWSAPSNPMVIMVTGNHRKPSLLAHPGPLVKSGERVILQCWSDIMF
EHFFLHREWISKDPSRLVGQIHDGVSKANFSIGSMMRALAGTYRCYGSVTHTPYQLSAPSDPLDIVVTGLYEKPS
LSAQPGPKVQAGESVTLSCSSRSSYDMYHLSREGGAHERRLPAVRKVNRTFQADFPLGPATHGGTYRCFGSFRHS
PYEWSDPSDPLLVSVTGNPSSSWPSPTEPSSKSGNLRHLHILIGTSVVKIPFTILLFFLLHRWCSNKKKCCCNGP
RACREQK
Structural information
Protein Domains
 Ig-like (42-102)
Ig-like (137-202)
Ig-like (237-300)
Interpro:  IPR036179 IPR013783 IPR003599 IPR013151

Pfam:  		 PF00047
STRING:   ENSP00000375608;
Other Databases GeneCards:  KIR3DS1;  Malacards:  KIR3DS1

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:0006955 immune response
 NAS biological_process
GO:0007165 signal transduction
 IEA biological_process
GO:0030101 natural killer cell activ
ation
 NAS biological_process
GO:0032393 MHC class I receptor acti
vity
 NAS molecular_function
GO:0045087 innate immune response
 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: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:0030101 natural killer cell activ
ation
 NAS biological_process
GO:0032393 MHC class I receptor acti
vity
 NAS molecular_function
GO:0045087 innate immune response
 TAS biological_process
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005887 integral component of pla
sma membrane
 NAS cellular_component
GO:0006955 immune response
 NAS biological_process
GO:0030101 natural killer cell activ
ation
 NAS biological_process
GO:0032393 MHC class I receptor acti
vity
 NAS molecular_function
GO:0045087 innate immune response
 TAS biological_process

Diseases

Associated diseases References
Uveomeningoencephalitic Syndrome GAD19897003
Uveomeningoencephalitic Syndrome GAD18571006
Systemic lupus erythematosus GAD18687225
Spontaneous abortion GAD19875891
Spondylitis GAD18638658
Sjogren's Syndrome GAD19181658
Rheumatoid spondylitis GAD20131260
Rheumatoid arthritis GAD15896204
Psoriasis GAD18643961
Pregnancy loss GAD19279038
Pemphigus GAD22768326
Osteoarthritis GAD19489269
Neuroblastoma GAD19934297
Multiple sclerosis GAD19421224
Lymphoma GAD20207982
Lupus erythematosus GAD20371502
Leukemia GAD17490516
Graves disease GAD19664392
Endometriosis GAD17997746
Ankylosing spondylitis GAD19874556
Diabetes GAD19110536
Chorioretinitis GAD18340360
Carcinoma GAD19326408
Behcet Syndrome GAD17868255
Axial Spondyloarthropathy GAD19850842
Endometriosis PubMed17997746

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)
Show abstract