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FLASH GENE

Symbol

KIR3DS1

contributors: mct - updated : 23-03-2013

HGNC name	killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1
HGNC id	6340

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

text	with alternatively spliced forms (Döhring)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001083539 9 - 1741 NP_001077008 - 382 - -

EXPRESSION

Type	restricted

constitutive of

expressed in	(based on citations)
organ(s)

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune activated B lymphocyte

cell lineage
cell lines
fluid/secretion	blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three Ig C2 type extracellular domains
	a short cytoplasmic tail, without the tyrosine based inhibitory motifs (ITIM), characteristic of activatory receptors

conjugated

GlycoP

HOMOLOGY

interspecies

homolog to C.elegans Y52B11.A9

Homologene

FAMILY	immunoglobulin superfamily
	belongs to the KIR haplotype group B

CATEGORY

receptor

SUBCELLULAR LOCALIZATION	plasma membrane
text	type 1 membrane protein

basic FUNCTION	may play an important role in regulation of the immune response
	expressed as a protein at the cell surface of NK cells
	activating receptor featuring the characteristic short cytoplasmic tail and a positively charged residue within the transmembrane domain, which allows recruitment of the ITAM-bearing adaptor molecule DAP12

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

natural killer cell receptor cluster FLNKR@

INTERACTION

DNA

RNA

small molecule

protein

interacts with HLA-Bw4 molecules bearing an Ile at residue 80

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to rapid or delayed progresion of HIV1 to ankylosing spondylitis (AS)

Variant & Polymorphism other	interaction between KIR3DS1 and HLA-B (BW4-80Ileu) decreases progression of HIV1
	increased frequency of the KIR3DS1*013 allele in patients with AS is clearly independent of the presence of the HLA-Bw4I80 epitope

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS