KLRC1 killer cell lectin like receptor C1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KLRC1provided by HGNC
Official Full Name: killer cell lectin like receptor C1provided by HGNC
Primary source: HGNC:HGNC:6374
See related: Ensembl:ENSG00000134545 MIM:161555; AllianceGenome:HGNC:6374
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: NKG2; NKG2A; CD159A
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. The protein encoded by this gene belongs to the killer cell lectin-like receptor family, also called NKG2 family, which is a group of transmembrane proteins preferentially expressed in NK cells. This family of proteins is characterized by the type II membrane orientation and the presence of a C-type lectin domain. This protein forms a complex with another family member, KLRD1/CD94, and has been implicated in the recognition of the MHC class I HLA-E molecules in NK cells. The genes of NKG2 family members form a killer cell lectin-like receptor gene cluster on chromosome 12. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jan 2015]
Expression: Broad expression in spleen (RPKM 1.5), endometrium (RPKM 1.3) and 21 other tissues See more
Orthologs: all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 12p13.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (10442264..10454685, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (10309110..10326059, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (10594863..10607284, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Antigen-specific memory NK cell responses against HIV and influenza use the NKG2/HLA-E axis.
Title: Antigen-specific memory NK cell responses against HIV and influenza use the NKG2/HLA-E axis.
Significance of HLA-E and its two NKG2 receptors in development of complications after allogeneic transplantation of hematopoietic stem cells.
Title: Significance of HLA-E and its two NKG2 receptors in development of complications after allogeneic transplantation of hematopoietic stem cells.
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.
KLRC1 knockout overcomes HLA-E-mediated inhibition and improves NK cell antitumor activity against solid tumors.
Title: KLRC1 knockout overcomes HLA-E-mediated inhibition and improves NK cell antitumor activity against solid tumors.
NKG2A and circulating extracellular vesicles are key regulators of natural killer cell activity in prostate cancer after prostatectomy.
Title: NKG2A and circulating extracellular vesicles are key regulators of natural killer cell activity in prostate cancer after prostatectomy.
The NK cell checkpoint NKG2A maintains expansion capacity of human NK cells.
Title: The NK cell checkpoint NKG2A maintains expansion capacity of human NK cells.
KIR[+]CD8[+] and NKG2A[+]CD8[+] T cells are distinct innate-like populations in humans.
Title: KIR(+)CD8(+) and NKG2A(+)CD8(+) T cells are distinct innate-like populations in humans.
NKG2A and HLA-E define an alternative immune checkpoint axis in bladder cancer.
Title: NKG2A and HLA-E define an alternative immune checkpoint axis in bladder cancer.
Implications of NKG2A in immunity and immune-mediated diseases.
Title: Implications of NKG2A in immunity and immune-mediated diseases.

Submit: New GeneRIF Correction See all GeneRIFs (81)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

G63923 (e-PCR)
- UniSTS:146464

D12S1416 (e-PCR)
- UniSTS:49510

SGC35438 (e-PCR)
- UniSTS:4199

KLRC1_2531 (e-PCR)
- UniSTS:280812

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables HLA-E specific inhibitory MHC class Ib receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables MHC class I protein complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables inhibitory MHC class Ib receptor activity	IDA Inferred from Direct Assay more info	PubMed
NOT enables protein antigen binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in CD8-positive, gamma-delta intraepithelial T cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in natural killer cell inhibitory signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of T cell mediated cytotoxicity	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of T cell mediated cytotoxicity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of natural killer cell mediated cytotoxicity	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of natural killer cell mediated cytotoxicity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of natural killer cell mediated cytotoxicity	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of natural killer cell activation	NAS Non-traceable Author Statement more info	PubMed
involved_in stimulatory C-type lectin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed
part_of receptor complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: NKG2-A/NKG2-B type II integral membrane protein

Names: C-lectin type II protein; CD159 antigen-like family member A; NK cell receptor A; NKG2-1/B activating NK receptor; NKG2-A/B type II integral membrane protein; NKG2-A/B-activating NK receptor; killer cell lectin-like receptor subfamily C, member 1; natural killer cell lectin; natural killer group protein 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

mRNA and Protein(s)

NM_001304448.1 → NP_001291377.1 NKG2-A/NKG2-B type II integral membrane protein isoform C

Status: REVIEWED

Description

Transcript Variant: This variant (5) has alternate 5' and 3' terminal sequences, compared to variant 1. The resulting isoform (C) is C-terminal truncated, compared to isoform NKG2-A.

Source sequence(s)

AC068775, AK310992

Consensus CDS

CCDS76531.1

UniProtKB/TrEMBL

F5GYZ0

Related

ENSP00000441432.1, ENST00000536188.5

Conserved Domains (1) summary

cd03593
Location:119 → 228

CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
NM_002259.5 → NP_002250.2 NKG2-A/NKG2-B type II integral membrane protein isoform NKG2-A

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (NKG2-A). Variants 1 and 3 encode the same isoform (NKG2-A).

Source sequence(s)

AC068775

Consensus CDS

CCDS8625.1

UniProtKB/Swiss-Prot

P26715

UniProtKB/TrEMBL

F5GYZ0

Related

ENSP00000352064.3, ENST00000359151.8

Conserved Domains (1) summary

cd03593
Location:119 → 231

CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
NM_007328.4 → NP_015567.2 NKG2-A/NKG2-B type II integral membrane protein isoform NKG2-B

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1. The resulting isoform (NKG2-B) is shorter compared to isoform NKG2-A. Variants 2 and 4 encode the same isoform (NKG-2B).

Source sequence(s)

AC068775

Consensus CDS

CCDS8626.1

UniProtKB/TrEMBL

F5GYZ0

Related

ENSP00000256965.7, ENST00000347831.9

Conserved Domains (1) summary

cd03593
Location:101 → 213

CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
NM_213657.3 → NP_998822.2 NKG2-A/NKG2-B type II integral membrane protein isoform NKG2-B

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and lacks an in-frame coding exon compared to variant 1. The resulting isoform (NKG2-B) is shorter compared to isoform NKG2-A. Variants 2 and 4 encode the same isoform (NKG2-B).

Source sequence(s)

AC068775

Consensus CDS

CCDS8626.1

Related

ENSP00000385304.3, ENST00000408006.7
NM_213658.3 → NP_998823.2 NKG2-A/NKG2-B type II integral membrane protein isoform NKG2-A

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same isoform (NKG2-A).

Source sequence(s)

AC068775

Consensus CDS

CCDS8625.1

UniProtKB/Swiss-Prot

P26715

Related

ENSP00000438038.1, ENST00000544822.2