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FLASH GENE

Symbol

KIR3DL1

contributors: mct - updated : 02-09-2011

HGNC name	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
HGNC id	6338

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

text	with several alternatively spliced forms (Dohring)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_013289 9 - 1986 - 444 - 1996 8662091 NKAT3 variant - - 1814 - 427 - 1996 8662091 NKAT3-delta Ig1 - - 1453 - ? - 1996 8662091

EXPRESSION

Type	restricted

constitutive of

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 Digestive liver         Endocrine pancreas

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic plasma       Lymphoid

cells

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

cell lineage	T cell lineage
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three Ig domains and is specific for MHC class I (MHC-I) molecules belonging to the HLA-Bw4 serogroup
	a long cytoplasmic tail, with two tyrosine based inhibitory motifs (ITIM)
	a KIR3DL interaction site seem to be largely conserved across the KIR3D family, with specificity differences mapping to a hotspot within the interaction interface

HOMOLOGY

Homologene

FAMILY

killer immunoglobulin-like receptors family, KIR3D family

CATEGORY

immunity/defense , receptor

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	may play an important role in regulation of the immune response
	prominent role for KIR3DL1/HLA-Bw4 interactions in licensing NK cells for CD16-mediated effector function
	recognizes HLA class I allotypes that contain the Bw4 serological epitope spanning residues 77–83 on the alpha1-helix
	inhibitory killer cell Ig-like receptor (KIR) implicated in resistance to viral diseases such as AIDS

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

natural killer cell receptor cluster FLNKR@

INTERACTION

DNA

RNA

small molecule

protein

MHC-I could bridge KIR3DL1 molecules together in a manner that facilitates signaling

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   was able to enhance the regulatory function of Tregs and their ability to inhibit insulitis and T1Diabetes constitutional     --over   in intestinal mucosa in active celiac disease

Susceptibility

to ankylosing spondylitis

Variant & Polymorphism other	presence of the functional KIR3DL1 receptor has a protective effect on ankylosing spondylitis

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed diabete type 1   important target for modulation of Treg function for treatment of autoimmune diseases like T1Diabetes

ANIMAL & CELL MODELS