Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3824
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol KLRD1   Gene   UCSC   Ensembl
Aliases CD94
Gene name killer cell lectin like receptor D1
Alternate names natural killer cells antigen CD94, CD94 antigen, KP43, NK cell receptor, killer cell lectin-like receptor subfamily D, member 1,
Gene location 12p13.2 (10238382: 10329606)     Exons: 14     NC_000012.12
Gene summary(Entrez) Natural killer (NK) cells are a distinct lineage of lymphocytes that mediate cytotoxic activity and secrete cytokines upon immune stimulation. Several genes of the C-type lectin superfamily, including members of the NKG2 family, are expressed by NK cells and may be involved in the regulation of NK cell function. KLRD1 (CD94) is an antigen preferentially expressed on NK cells and is classified as a type II membrane protein because it has an external C terminus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]
OMIM 602894

Protein Summary

Protein general information Q13241  

Name: Natural killer cells antigen CD94 (KP43) (Killer cell lectin-like receptor subfamily D member 1) (NK cell receptor) (CD antigen CD94)

Length: 179  Mass: 20,513

Tissue specificity: Natural killer cells.

Sequence MAVFKTTLWRLISGTLGIICLSLMSTLGILLKNSFTKLSIEPAFTPGPNIELQKDSDCCSCQEKWVGYRCNCYFI
SSEQKTWNESRHLCASQKSSLLQLQNTDELDFMSSSQQFYWIGLSYSEEHTAWLWENGSALSQYLFPSFETFNTK
NCIAYNPNGNALDESCEDKNRYICKQQLI
Structural information
Protein Domains
C-type (68-175)
Interpro:  IPR001304 IPR016186 IPR016187 IPR033992
Prosite:   PS50041

Pfam:  
PF00059
CDD:   cd03593

PDB:  
1B6E 3BDW 3CDG 3CII
PDBsum:   1B6E 3BDW 3CDG 3CII
STRING:   ENSP00000338130;
Other Databases GeneCards:  KLRD1;  Malacards:  KLRD1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0002228 natural killer cell media
ted immunity
IDA biological_process
GO:0004888 transmembrane signaling r
eceptor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
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: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:0005886 plasma membrane
TAS cellular_component
GO:0007166 cell surface receptor sig
naling pathway
TAS biological_process
GO:0009897 external side of plasma m
embrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0023024 MHC class I protein compl
ex binding
IPI molecular_function
GO:0023030 MHC class Ib protein bind
ing, via antigen binding
groove
IPI molecular_function
GO:0030246 carbohydrate binding
IEA molecular_function
GO:0043235 receptor complex
IDA cellular_component
GO:0045087 innate immune response
TAS biological_process
GO:0050776 regulation of immune resp
onse
TAS biological_process
GO:1990405 protein antigen binding
IDA molecular_function
GO:0002228 natural killer cell media
ted immunity
IDA biological_process
GO:0004888 transmembrane signaling r
eceptor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
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: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:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0007166 cell surface receptor sig
naling pathway
TAS biological_process
GO:0009897 external side of plasma m
embrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0023024 MHC class I protein compl
ex binding
IPI molecular_function
GO:0023030 MHC class Ib protein bind
ing, via antigen binding
groove
IPI molecular_function
GO:0030246 carbohydrate binding
IEA molecular_function
GO:0043235 receptor complex
IDA cellular_component
GO:0045087 innate immune response
TAS biological_process
GO:0050776 regulation of immune resp
onse
TAS biological_process
GO:1990405 protein antigen binding
IDA molecular_function
GO:0002228 natural killer cell media
ted immunity
IDA biological_process
GO:0004888 transmembrane signaling r
eceptor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
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: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:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0007166 cell surface receptor sig
naling pathway
TAS biological_process
GO:0023024 MHC class I protein compl
ex binding
IPI molecular_function
GO:0023030 MHC class Ib protein bind
ing, via antigen binding
groove
IPI molecular_function
GO:0043235 receptor complex
IDA cellular_component
GO:0045087 innate immune response
TAS biological_process
GO:0050776 regulation of immune resp
onse
TAS biological_process
GO:1990405 protein antigen binding
IDA molecular_function

KEGG pathways

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

Diseases

Associated diseases References
Endometriosis INFBASE17706207

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17706207 Endometrio
sis

33 (20 with end
ometriosis, 13
without endomet
riosis)
CD94/NKG2A
HLA-E
Show abstract