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

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; AllianceGenome:HGNC:18788
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: mouse all
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Genomic context

Location:: 12p13.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (10372353..10390041, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (10259174..10276858, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (10524952..10542640, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Donor NKG2D rs1049174 polymorphism predicts hematopoietic recovery and event-free survival after single-unit cord blood transplantation in adults.
Title: Donor NKG2D rs1049174 polymorphism predicts hematopoietic recovery and event-free survival after single-unit cord blood transplantation in adults.
Elevated levels of cell-free NKG2D-ligands modulate NKG2D surface expression and compromise NK cell function in severe COVID-19 disease.
Title: Elevated levels of cell-free NKG2D-ligands modulate NKG2D surface expression and compromise NK cell function in severe COVID-19 disease.
Progressive accumulation of hyperinflammatory NKG2D[low] NK cells in early childhood severe atopic dermatitis.
Title: Progressive accumulation of hyperinflammatory NKG2D(low) NK cells in early childhood severe atopic dermatitis.
UCA1 Inhibits NKG2D-mediated Cytotoxicity of NK Cells to Breast Cancer.
Title: UCA1 Inhibits NKG2D-mediated Cytotoxicity of NK Cells to Breast Cancer.
Novel Association of KLRC4-KLRK1 Gene Polymorphisms with Susceptibility and Progression of Antithyroid Drug-Induced Agranulocytosis.
Title: Novel Association of KLRC4-KLRK1 Gene Polymorphisms with Susceptibility and Progression of Antithyroid Drug-Induced Agranulocytosis.
MICB Genomic Variant Is Associated with NKG2D-mediated Acute Lung Injury and Death.
Title: MICB Genomic Variant Is Associated with NKG2D-mediated Acute Lung Injury and Death.
Autophagy-mediated NKG2D internalization impairs NK cell function and exacerbates radiation pneumonitis.
Title: Autophagy-mediated NKG2D internalization impairs NK cell function and exacerbates radiation pneumonitis.
NKG2D receptor regulates CD4[+]T cell differentiation via interaction with dendritic cells in patients with juvenile idiopathic arthritis.
Title: NKG2D receptor regulates CD4(+)T cell differentiation via interaction with dendritic cells in patients with juvenile idiopathic arthritis.
Association of inhibitory NKG2A and activating NKG2D natural killer cell receptor genes with resistance to SARS-CoV-2 infection in a western Indian population.
Title: Association of inhibitory NKG2A and activating NKG2D natural killer cell receptor genes with resistance to SARS-CoV-2 infection in a western Indian population.
Association between NKG2/KLR gene variants and epilepsy in Autism Spectrum Disorder.
Title: Association between NKG2/KLR gene variants and epilepsy in Autism Spectrum Disorder.

Submit: New GeneRIF Correction See all GeneRIFs (362)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Readthrough KLRC4-KLRK1

Readthrough gene: KLRC4-KLRK1, Included gene: KLRC4

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables MHC class I protein binding	IEA Inferred from Electronic Annotation more info
enables MHC class Ib receptor activity	IEA Inferred from Electronic Annotation more info
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in T cell costimulation	TAS Traceable Author Statement more info	PubMed
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in defense response to Gram-positive bacterium	IEA Inferred from Electronic Annotation more info
involved_in natural killer cell activation	TAS Traceable Author Statement more info	PubMed
involved_in natural killer cell mediated cytotoxicity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of natural killer cell chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in nitric oxide biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of natural killer cell mediated cytotoxicity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of natural killer cell mediated cytotoxicity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of nitric oxide biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of type II interferon production	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in stimulatory C-type lectin receptor signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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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)

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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

NG_027762.1 RefSeqGene

Range

5001..22689

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_007360.4 → NP_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

UniProtKB/Swiss-Prot

A8K7K5, A8K7P4, P26718, Q9NR41

Related

ENSP00000240618.6, ENST00000240618.11

Conserved Domains (2) summary

cd03593
Location:99 → 213

CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

PHA03097
Location:47 → 214

PHA03097; C-type lectin-like protein; Provisional