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

    Gene ID: 3821, updated on 28-Oct-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (10442264..10454685, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (10309110..10326059, complement)
    RS_2024_09 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 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. NK cell terminal differentiation: correlated stepwise decrease of NKG2A and acquisition of KIRs. Béziat V, et al. PLoS One, 2010 Aug 6. PMID 20700504, Free PMC Article
    2. Genomic structure, chromosome location, and alternative splicing of the human NKG2A gene. Plougastel B, et al. Immunogenetics, 1996. PMID 8753859
    3. CD8(+) T Cells Form the Predominant Subset of NKG2A(+) Cells in Human Lung Cancer. Chen Y, et al. Front Immunol, 2019. PMID 32010126, Free PMC Article
    4. Human liver-derived CXCR6(+) NK cells are predominantly educated through NKG2A and show reduced cytokine production. Lunemann S, et al. J Leukoc Biol, 2019 Jun. PMID 30779432
    5. Targeting NKG2A to elucidate natural killer cell ontogenesis and to develop novel immune-therapeutic strategies in cancer therapy. Zaghi E, et al. J Leukoc Biol, 2019 Jun. PMID 30645023

    See all (110) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DNA Methylation of KLRC1 and KLRC3 in Autoimmune Thyroiditis: Perspective of Different Water Iodine Exposure.
      Title: DNA Methylation of KLRC1 and KLRC3 in Autoimmune Thyroiditis: Perspective of Different Water Iodine Exposure.
    2. Mutual exclusivity and co-occurrence patterns of immune checkpoints indicate NKG2A relates to anti-PD-1 resistance in gastric cancer.
      Title: Mutual exclusivity and co-occurrence patterns of immune checkpoints indicate NKG2A relates to anti-PD-1 resistance in gastric cancer.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (83)

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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