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

    Gene ID: 259197, updated on 23-Nov-2021

    Summary

    Official Symbol
    NCR3provided by HGNC
    Official Full Name
    natural cytotoxicity triggering receptor 3provided by HGNC
    Primary source
    HGNC:HGNC:19077
    See related
    Ensembl:ENSG00000204475 MIM:611550
    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]
    Expression
    Broad expression in lymph node (RPKM 5.8), spleen (RPKM 4.7) and 18 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See NCR3 in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (31588895..31593024, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31556672..31560783, 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

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
    GeneReviews: Not available
    Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
    GeneReviews: Not available
    Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
    GeneReviews: Not available
    Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
    GeneReviews: Not available
    Malaria, mild, susceptibility to
    MedGen: C1836721 OMIM: 609148 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_021176.1 RefSeqGene

      Range
      4980..9091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145466.2NP_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, AL662801, BC018752, BG744854
      Consensus CDS
      CCDS47401.1
      UniProtKB/Swiss-Prot
      O14931
      UniProtKB/TrEMBL
      Q05D23
      Related
      ENSP00000365241.4, ENST00000376073.8
      Conserved Domains (1) summary
      cl11960
      Location:23127
      Ig; Immunoglobulin domain
    2. NM_001145467.2NP_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, AL662801
      Consensus CDS
      CCDS47402.1
      UniProtKB/Swiss-Prot
      O14931
      Related
      ENSP00000365240.3, ENST00000376072.7
      Conserved Domains (2) summary
      smart00410
      Location:24127
      IG_like; Immunoglobulin like
      cl11960
      Location:23127
      Ig; Immunoglobulin domain
    3. NM_147130.3NP_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, AL662801, BC052582
      Consensus CDS
      CCDS34397.1
      UniProtKB/Swiss-Prot
      O14931
      Related
      ENSP00000342156.5, ENST00000340027.10
      Conserved Domains (1) summary
      cl11960
      Location:23127
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      31588895..31593024 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514459.2XP_011512761.1  natural cytotoxicity triggering receptor 3 isoform X2

      See identical proteins and their annotated locations for XP_011512761.1

      UniProtKB/Swiss-Prot
      O14931
      Conserved Domains (1) summary
      cl28434
      Location:2186
      I-set; Immunoglobulin I-set domain
    2. XM_006715049.3XP_006715112.1  natural cytotoxicity triggering receptor 3 isoform X1

      See identical proteins and their annotated locations for XP_006715112.1

      UniProtKB/Swiss-Prot
      O14931
      Related
      ENST00000491161.1
      Conserved Domains (1) summary
      cl11960
      Location:23127
      Ig; Immunoglobulin domain

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.2 Reference GRCh38.p13 ALT_REF_LOCI_1

      Range
      2921474..2925585 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

      Range
      3066178..3070289 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

      Range
      2836632..2840743 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

      Range
      2893936..2898047 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

      Range
      2930788..2934899 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

      Range
      2844718..2848827 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

      Range
      2888176..2892286 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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