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

Gene ID: 3821, updated on 3-Apr-2024

Summary

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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
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Genomic context

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See KLRC1 in Genome Data Viewer
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_000012.12Genomic Context describing neighboring genes Neighboring gene killer cell lectin like receptor C3 Neighboring gene killer cell lectin like receptor C2 Neighboring gene uncharacterized LOC105369657 Neighboring gene eukaryotic translation initiation factor 2 subunit gamma B Neighboring gene uncharacterized LOC105369658

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. The NK cell checkpoint NKG2A maintains expansion capacity of human NK cells. Kaulfuss M, et al. Sci Rep, 2023 Jun 29. PMID 37386090, Free PMC Article
  2. KIR(+)CD8(+) and NKG2A(+)CD8(+) T cells are distinct innate-like populations in humans. Choi SJ, et al. Cell Rep, 2023 Mar 28. PMID 36897779
  3. Implications of NKG2A in immunity and immune-mediated diseases. Wang X, et al. Front Immunol, 2022. PMID 36032104, Free PMC Article
  4. Targeting NKG2A to boost anti-tumor CD8 T-cell responses in human colorectal cancer. Ducoin K, et al. Oncoimmunology, 2022. PMID 35295095, Free PMC Article
  5. NKG2A is a late immune checkpoint on CD8 T cells and marks repeated stimulation and cell division. Borst L, et al. Int J Cancer, 2022 Feb 15. PMID 34716584, Free PMC Article

See all (101) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC13374, MGC59791

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

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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)

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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.

mRNA and Protein(s)

  1. 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)

  2. 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)

  3. 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)

  4. 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

  5. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    10442264..10454685 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    10309110..10326059 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_008488583.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P26715.2 GenPept UniProtKB/Swiss-Prot:P26715

Gene LinkOut

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