Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

KLRC1

contributors: mct/npt - updated : 04-12-2009

HGNC name	killer cell lectin-like receptor subfamily C, member 1
HGNC id	6374

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	7.29 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002259 7 splicing 1393 NP_002250 - 233 - Plougastel, Nguyen (2005) also called NKG2A NM_007328 6 splicing 1339 NP_015567 - 215 - Plougastel, Nguyen (2005) also called NKG2B NM_213658 8 - 1386 NP_998823 - 233 - Nguyen (2005) NM_213657 7 - 1332 NP_998822 - 215 - Nguyen (2005)

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive female system placenta       Urinary kidney         Visual eye

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune natural killer Homo sapiens Lymphoid/Immune T cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an extracytoplasmic carbohydrate recognition domain homologous with the C type lectin family member, group V
	two cytoplasmic tyrosine based inhibitory motifs (ITIM)

mono polymer

homomer , dimer

HOMOLOGY

Homologene

FAMILY	natural killer cell lectin-like receptor family
	subfamily C

CATEGORY

receptor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,nucleus
text	type II integral membrane protein

basic FUNCTION	triggering cellular activation of NK cells and target lysis (NKGR2@ cluster)
	playing a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells
	a key inhibitory ligand for HLA-E, is expressed on activated TH2 but not TH1 cells (Freishtat 2007)
	may be also transiently displayed by KLRD1/KLRC2+ NK cells under the influence of IL12, providing a potential negative regulatory feedback mechanism (Sáez-Borderías 2009)
	two distinct inhibitory receptor systems for MHC class I, one of which is KLRD1–KLRC1
	KLRC1 and KLRD1 operates in tandem with the polymorphic killer cell Ig-like receptors (KIR) and Ly49 systems to inhibit NK cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	heterodimeric assembly of the KLRD1-KLRCs receptor family having implications for human leukocyte antigen-E recognition (Sullivan 2007)
	KLRD1 forms disulfide-bonded heterodimers with the KLRC1 subunit to form an inhibitory receptor or with the KLRC2 or KLRC3 subunits to assemble a receptor complex with activating DAP12 signaling proteins

INTERACTION

DNA

RNA

small molecule

protein	ligand for KLRK1/KLRC1, KLRC2 is leukocyte antigen (HLA)-E, which is constitutively expressed on human cells (Imaizumi 2009)
	expression of KLRD1 and its associated KLRC1, KLRC2, KLRC3 subunits is dispensable for NK cell development, education, and many NK cell functions

cell & other

REGULATION

Other

calcineurin-dependent negative regulation of KLRD1/KLRC1 expression on naive CD8+ T cells

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in cytotoxic NK subset were found in later stages HIV infection (Zhang 2007) constitutional     --low   of KLRD1/KLRC1 inhibitory receptor on decreased gammadelta T cells in patients with systemic lupus erythematosus

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS