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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

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	14.34 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	putative E2F binding site in the KIR3DL1 promoter (mutation in E2F binding site probably exerts its effect on promoter activity through directly repressing the binding of E2F protein and (or) indirectly repressing their binding by the altered methylation pattern)

MAPPING

cloned

Y

linked

status

confirmed

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