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    NCR3 natural cytotoxicity triggering receptor 3 [ Homo sapiens (human) ]

    Gene ID: 259197, updated on 15-Jun-2016
    Official Symbol
    NCR3provided by HGNC
    Official Full Name
    natural cytotoxicity triggering receptor 3provided by HGNC
    Primary source
    HGNC:HGNC:19077
    See related
    Ensembl:ENSG00000204475 HPRD:11384; MIM:611550; Vega:OTTHUMG00000031123
    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
    1C7; MALS; CD337; LY117; NKp30
    Summary
    The protein encoded by this gene is a natural cytotoxicity receptor (NCR) that may aid NK cells in the lysis of tumor cells. The encoded protein interacts with CD3-zeta (CD247), a T-cell receptor. A single nucleotide polymorphism in the 5' untranslated region of this gene has been associated with mild malaria suceptibility. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
    Orthologs
    Location:
    6p21.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (31588883..31593024, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31556660..31560762, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene tumor necrosis factor Neighboring gene lymphotoxin beta Neighboring gene leukocyte specific transcript 1 Neighboring gene ubiquinol-cytochrome c reductase hinge protein pseudogene 1 Neighboring gene allograft inflammatory factor 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Malaria, mild, susceptibility to
    MedGen: C1836721 OMIM: 609148 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
    NHGRI GWA Catalog
    Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
    NHGRI GWA Catalog
    Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
    NHGRI GWA Catalog
    Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates the expression of natural cytotoxicity triggering receptor 3 (NCR3) in human B cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystem (from REACTOME)
      Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystemA number of receptors and cell adhesion molecules play a key role in modifying the response of cells of lymphoid origin (such as B-, T- and NK cells) to self and tumor antigens, as well as to pathoge...
    • Natural killer cell mediated cytotoxicity, organism-specific biosystem (from KEGG)
      Natural killer cell mediated cytotoxicity, organism-specific biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...
    • Natural killer cell mediated cytotoxicity, conserved biosystem (from KEGG)
      Natural killer cell mediated cytotoxicity, conserved biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cell adhesion molecule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein homodimerization activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    cell recognition TAS
    Traceable Author Statement
    more info
    PubMed 
    heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    homophilic cell adhesion via plasma membrane adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    immune response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    inflammatory response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of natural killer cell mediated cytotoxicity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of immune response TAS
    Traceable Author Statement
    more info
     
    susceptibility to T cell mediated cytotoxicity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    susceptibility to natural killer cell mediated cytotoxicity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    cell-cell adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    natural cytotoxicity triggering receptor 3
    Names
    NK-p30
    activating NK-A1 receptor
    activating natural killer receptor p30
    lymphocyte antigen 117
    natural killer cell p30-related protein

    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_021176.1 RefSeqGene

      Range
      5001..9103
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145466.1NP_001138938.1  natural cytotoxicity triggering receptor 3 isoform b precursor

      See identical proteins and their annotated locations for NP_001138938.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region compared to variant 1, that results in a frameshift. It encodes isoform b, which has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AF031136, BC018752, BG744854
      Consensus CDS
      CCDS47401.1
      UniProtKB/Swiss-Prot
      O14931
      UniProtKB/TrEMBL
      Q05D23
      Related
      ENSP00000365241, OTTHUMP00000029163, ENST00000376073, OTTHUMT00000076211
      Conserved Domains (2) summary
      cd00096
      Location:35111
      Ig; Immunoglobulin domain
      smart00410
      Location:24127
      IG_like; Immunoglobulin like
    2. NM_001145467.1NP_001138939.1  natural cytotoxicity triggering receptor 3 isoform c precursor

      See identical proteins and their annotated locations for NP_001138939.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region compared to variant 1, that results in a frameshift. It encodes isoform c, which has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AF031138, AJ223153
      Consensus CDS
      CCDS47402.1
      UniProtKB/Swiss-Prot
      O14931
      Related
      ENSP00000365240, OTTHUMP00000029164, ENST00000376072, OTTHUMT00000076212
      Conserved Domains (2) summary
      cd00096
      Location:35111
      Ig; Immunoglobulin domain
      smart00410
      Location:24127
      IG_like; Immunoglobulin like
    3. NM_147130.2NP_667341.1  natural cytotoxicity triggering receptor 3 isoform a precursor

      See identical proteins and their annotated locations for NP_667341.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AF031137, BC052582, BG744854
      Consensus CDS
      CCDS34397.1
      UniProtKB/Swiss-Prot
      O14931
      Related
      ENSP00000342156, OTTHUMP00000029162, ENST00000340027, OTTHUMT00000076210
      Conserved Domains (2) summary
      cd00096
      Location:35111
      Ig; Immunoglobulin domain
      smart00410
      Location:24127
      IG_like; Immunoglobulin like

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      31588883..31593024 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514459.2XP_011512761.1  

      See identical proteins and their annotated locations for XP_011512761.1

      UniProtKB/Swiss-Prot
      O14931
      Conserved Domains (2) summary
      smart00410
      Location:24102
      IG_like; Immunoglobulin like
      pfam07686
      Location:18102
      V-set; Immunoglobulin V-set domain
    2. XM_006715049.3XP_006715112.1  

      See identical proteins and their annotated locations for XP_006715112.1

      UniProtKB/Swiss-Prot
      O14931
      Conserved Domains (2) summary
      cd00096
      Location:35111
      Ig; Immunoglobulin domain
      smart00410
      Location:24127
      IG_like; Immunoglobulin like

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.2 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      2921462..2925564 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p7 ALT_REF_LOCI_2

      Range
      3066166..3070268 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p7 ALT_REF_LOCI_3

      Range
      2836620..2840722 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p7 ALT_REF_LOCI_4

      Range
      2893924..2898026 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p7 ALT_REF_LOCI_5

      Range
      2930776..2934878 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p7 ALT_REF_LOCI_6

      Range
      2844706..2848806 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p7 ALT_REF_LOCI_7

      Range
      2888164..2892265 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      31558795..31562896 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)