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KLRK1 killer cell lectin like receptor K1 [ Homo sapiens (human) ]

Gene ID: 22914, updated on 27-Sep-2020

Summary

Official Symbol
KLRK1provided by HGNC
Official Full Name
killer cell lectin like receptor K1provided by HGNC
Primary source
HGNC:HGNC:18788
See related
Ensembl:ENSG00000213809 MIM:611817
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KLR; CD314; NKG2D; NKG2-D; D12S2489E
Summary
Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. This gene encodes a member of the NKG2 family. The encoded transmembrane protein is characterized by a type II membrane orientation (has an extracellular C terminus) and the presence of a C-type lectin domain. It binds to a diverse family of ligands that include MHC class I chain-related A and B proteins and UL-16 binding proteins, where ligand-receptor interactions can result in the activation of NK and T cells. The surface expression of these ligands is important for the recognition of stressed cells by the immune system, and thus this protein and its ligands are therapeutic targets for the treatment of immune diseases and cancers. Read-through transcription exists between this gene and the upstream KLRC4 (killer cell lectin-like receptor subfamily C, member 4) family member in the same cluster. [provided by RefSeq, Dec 2010]
Expression
Broad expression in spleen (RPKM 28.6), lymph node (RPKM 22.6) and 16 other tissues See more
Orthologs

Genomic context

See KLRK1 in Genome Data Viewer
Location:
12p13.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (10372353..10390041, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (10524952..10542653, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene killer cell lectin like receptor D1 Neighboring gene uncharacterized LOC105369656 Neighboring gene long intergenic non-protein coding RNA 2617 Neighboring gene KLRK1 antisense RNA 1 Neighboring gene KLRC4-KLRK1 readthrough Neighboring gene killer cell lectin like receptor C4 Neighboring gene killer cell lectin like receptor C3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef HIV-1 Nef-mediated downregulation of NKG2DL triggers decreased signals delivered via NKG2D, which results in a weaker activation of NK cells and in reduced lysis PubMed
Vpu vpu HIV-1 Vpu-mediated down modulation of NTB-A decreases NK cell activation via NKG2D, which results in protecting HIV-1 infected cells from lysis by NK cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough KLRC4-KLRK1

Readthrough gene: KLRC4-KLRK1, Included gene: KLRC4

Homology

Clone Names

  • FLJ17759, FLJ75772

Gene Ontology Provided by GOA

Function Evidence Code Pubs
MHC class I protein binding IEA
Inferred from Electronic Annotation
more info
 
MHC class Ib receptor activity IEA
Inferred from Electronic Annotation
more info
 
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signaling receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
T cell costimulation TAS
Traceable Author Statement
more info
PubMed 
adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cellular response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
defense response to Gram-positive bacterium IEA
Inferred from Electronic Annotation
more info
 
natural killer cell activation TAS
Traceable Author Statement
more info
PubMed 
natural killer cell mediated cytotoxicity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of natural killer cell chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interferon-gamma production IEA
Inferred from Electronic Annotation
more info
 
positive regulation of natural killer cell mediated cytotoxicity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of natural killer cell mediated cytotoxicity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of nitric oxide biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
regulation of immune response TAS
Traceable Author Statement
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
stimulatory C-type lectin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
NKG2-D type II integral membrane protein
Names
NK cell receptor D
NKG2-D-activating NK receptor
killer cell lectin-like receptor subfamily K, member 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027762.1 RefSeqGene

    Range
    5001..22689
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_007360.4NP_031386.2  NKG2-D type II integral membrane protein

    See identical proteins and their annotated locations for NP_031386.2

    Status: REVIEWED

    Source sequence(s)
    AC022075, AK292059, CB241686, DA933271
    Consensus CDS
    CCDS8623.1
    UniProtKB/Swiss-Prot
    P26718
    UniProtKB/TrEMBL
    A0A024RAP8
    Related
    ENSP00000240618.6, ENST00000240618.11
    Conserved Domains (2) summary
    cd03593
    Location:99213
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
    PHA03097
    Location:47214
    PHA03097; C-type lectin-like protein; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    10372353..10390041 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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