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

    Gene ID: 259197, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:19077
    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
    all
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    Genomic context

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    See NCR3 in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31588895..31593006, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (31441943..31446067, complement)
    RS_2024_09 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 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:31545791-31546990 Neighboring gene tumor necrosis factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31549801-31550555 Neighboring gene lymphotoxin beta Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31557557-31558057 Neighboring gene leukocyte specific transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31561069-31561989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31565006-31565506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31565507-31566007 Neighboring gene ubiquinol-cytochrome c reductase hinge protein pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:31583276-31583776 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:31583777-31584277 Neighboring gene allograft inflammatory factor 1

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Altered NCR3 Splice Variants May Result in Deficient NK Cell Function in Renal Cell Carcinoma Patients.
      Title: Altered NCR3 Splice Variants May Result in Deficient NK Cell Function in Renal Cell Carcinoma Patients.
    2. Human NCR3 gene variants rs2736191 and rs11575837 alter longitudinal risk for development of pediatric malaria episodes and severe malarial anemia.
      Title: Human NCR3 gene variants rs2736191 and rs11575837 alter longitudinal risk for development of pediatric malaria episodes and severe malarial anemia.
    3. Multifunctional NK Cell-Engaging Antibodies Targeting EGFR and NKp30 Elicit Efficient Tumor Cell Killing and Proinflammatory Cytokine Release.
      Title: Multifunctional NK Cell-Engaging Antibodies Targeting EGFR and NKp30 Elicit Efficient Tumor Cell Killing and Proinflammatory Cytokine Release.
    4. Oral cancer cellderived exosomes modulate natural killer cell activity by regulating the receptors on these cells.
      Title: Oral cancer cell‑derived exosomes modulate natural killer cell activity by regulating the receptors on these cells.
    5. Secreted Ligands of the NK Cell Receptor NKp30: B7-H6 Is in Contrast to BAG6 Only Marginally Released via Extracellular Vesicles.
      Title: Secreted Ligands of the NK Cell Receptor NKp30: B7-H6 Is in Contrast to BAG6 Only Marginally Released via Extracellular Vesicles.
    6. The Natural Cytotoxicity Receptors in Health and Disease.
      Title: The Natural Cytotoxicity Receptors in Health and Disease.
    7. Altogether, these data suggested that the defective expression of NKp30 may be induced by the chronic engagement of this receptor by B7-H6 expressed on HIV-2-infected target cells. This represents a novel mechanism by which the chronic ligand exposure by the viral environment may subvert NK-cell-mediated function to establish persistent HIV-2 infection.
      Title: B7-H6-mediated downregulation of NKp30 in natural killer cells contributes to HIV-2 immune escape.
    8. this study shows that NK cells lyse Th2-polarizing dendritic cells via NKp30
      Title: Human NK Cells Lyse Th2-Polarizing Dendritic Cells via NKp30 and DNAM-1.
    9. Decreases in the expression of NKp30 could influence the functional capacity of natural killer cells in the tropical spastic paraparesis patients.
      Title: Functional capacity of natural killer cells in HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) patients.
    10. this paper shows that the decreased expression of activating receptor NKp30 on peripheral blood NK cells is positively associated with gastric cancer progression
      Title: Altered NKp30, NKp46, NKG2D, and DNAM-1 Expression on Circulating NK Cells Is Associated with Tumor Progression in Human Gastric Cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (72)

    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

    Associated conditions

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

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

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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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables immune receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in NK T cell activation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cell recognition TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in immune response NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in immune response-activating cell surface receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in immune response-activating cell surface receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in inflammatory response NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in natural killer cell activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in natural killer cell activation 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 positive regulation of natural killer cell mediated cytotoxicity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    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)

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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.

    Genomic

    1. NG_021176.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001145466.2 → NP_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/TrEMBL
      A0A1U9X849, Q05D23
      Related
      ENSP00000365241.4, ENST00000376073.8
      Conserved Domains (1) summary
      cl11960
      Location:23 → 127
      Ig; Immunoglobulin domain

    2. NM_001145467.2 → NP_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/TrEMBL
      A0A1U9X849
      Related
      ENSP00000365240.3, ENST00000376072.7
      Conserved Domains (2) summary
      smart00410
      Location:24 → 127
      IG_like; Immunoglobulin like
      cl11960
      Location:23 → 127
      Ig; Immunoglobulin domain

    3. NM_147130.3 → NP_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
      B0S8F2, B0S8F4, B0S8F5, O14930, O14931, O14932, O95667, O95668, O95669, Q5ST89, Q5ST90, Q5ST91, Q5ST92, Q5STA3
      UniProtKB/TrEMBL
      A0A1U9X849
      Related
      ENSP00000342156.5, ENST00000340027.10
      Conserved Domains (1) summary
      cl11960
      Location:23 → 127
      Ig; Immunoglobulin domain

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      31588895..31593006 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715049.4 → XP_006715112.1  natural cytotoxicity triggering receptor 3 isoform X1

      See identical proteins and their annotated locations for XP_006715112.1

      UniProtKB/Swiss-Prot
      B0S8F2, B0S8F4, B0S8F5, O14930, O14931, O14932, O95667, O95668, O95669, Q5ST89, Q5ST90, Q5ST91, Q5ST92, Q5STA3
      UniProtKB/TrEMBL
      A0A1U9X849
      Related
      ENST00000491161.1
      Conserved Domains (1) summary
      cl11960
      Location:23 → 127
      Ig; Immunoglobulin domain

    2. XM_011514459.3 → XP_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:21 → 86
      I-set; Immunoglobulin I-set domain

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      2921474..2925597 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328461.1 → XP_054184436.1  natural cytotoxicity triggering receptor 3 isoform X1

      UniProtKB/Swiss-Prot
      B0S8F2, B0S8F4, B0S8F5, O14930, O14931, O14932, O95667, O95668, O95669, Q5ST89, Q5ST90, Q5ST91, Q5ST92, Q5STA3

    2. XM_054328462.1 → XP_054184437.1  natural cytotoxicity triggering receptor 3 isoform X2

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      3066178..3070301 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329761.1 → XP_054185736.1  natural cytotoxicity triggering receptor 3 isoform X1

      UniProtKB/Swiss-Prot
      B0S8F2, B0S8F4, B0S8F5, O14930, O14931, O14932, O95667, O95668, O95669, Q5ST89, Q5ST90, Q5ST91, Q5ST92, Q5STA3

    2. XM_054329764.1 → XP_054185739.1  natural cytotoxicity triggering receptor 3 isoform X2

    3. XM_054329763.1 → XP_054185738.1  natural cytotoxicity triggering receptor 3 isoform X6

    4. XM_054329759.1 → XP_054185734.1  natural cytotoxicity triggering receptor 3 isoform X3

    5. XM_054329762.1 → XP_054185737.1  natural cytotoxicity triggering receptor 3 isoform X5

    6. XM_054329760.1 → XP_054185735.1  natural cytotoxicity triggering receptor 3 isoform X4

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      2836632..2840755 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330251.1 → XP_054186226.1  natural cytotoxicity triggering receptor 3 isoform X1

      UniProtKB/Swiss-Prot
      B0S8F2, B0S8F4, B0S8F5, O14930, O14931, O14932, O95667, O95668, O95669, Q5ST89, Q5ST90, Q5ST91, Q5ST92, Q5STA3

    2. XM_054330252.1 → XP_054186227.1  natural cytotoxicity triggering receptor 3 isoform X2

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      2893936..2898059 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330543.1 → XP_054186518.1  natural cytotoxicity triggering receptor 3 isoform X1

      UniProtKB/Swiss-Prot
      B0S8F2, B0S8F4, B0S8F5, O14930, O14931, O14932, O95667, O95668, O95669, Q5ST89, Q5ST90, Q5ST91, Q5ST92, Q5STA3

    2. XM_054330544.1 → XP_054186519.1  natural cytotoxicity triggering receptor 3 isoform X2

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

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

    mRNA and Protein(s)

    1. XM_054330794.1 → XP_054186769.1  natural cytotoxicity triggering receptor 3 isoform X2

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      2844718..2848839 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331031.1 → XP_054187006.1  natural cytotoxicity triggering receptor 3 isoform X1

      UniProtKB/Swiss-Prot
      B0S8F2, B0S8F4, B0S8F5, O14930, O14931, O14932, O95667, O95668, O95669, Q5ST89, Q5ST90, Q5ST91, Q5ST92, Q5STA3

    2. XM_054331032.1 → XP_054187007.1  natural cytotoxicity triggering receptor 3 isoform X2

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      2888176..2892298 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331291.1 → XP_054187266.1  natural cytotoxicity triggering receptor 3 isoform X1

      UniProtKB/Swiss-Prot
      B0S8F2, B0S8F4, B0S8F5, O14930, O14931, O14932, O95667, O95668, O95669, Q5ST89, Q5ST90, Q5ST91, Q5ST92, Q5STA3

    2. XM_054331294.1 → XP_054187269.1  natural cytotoxicity triggering receptor 3 isoform X2

    3. XM_054331293.1 → XP_054187268.1  natural cytotoxicity triggering receptor 3 isoform X10

    4. XM_054331289.1 → XP_054187264.1  natural cytotoxicity triggering receptor 3 isoform X7

    5. XM_054331292.1 → XP_054187267.1  natural cytotoxicity triggering receptor 3 isoform X9

    6. XM_054331290.1 → XP_054187265.1  natural cytotoxicity triggering receptor 3 isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      31441943..31446067 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355122.1 → XP_054211097.1  natural cytotoxicity triggering receptor 3 isoform X1

      UniProtKB/Swiss-Prot
      B0S8F2, B0S8F4, B0S8F5, O14930, O14931, O14932, O95667, O95668, O95669, Q5ST89, Q5ST90, Q5ST91, Q5ST92, Q5STA3

    2. XM_054355125.1 → XP_054211100.1  natural cytotoxicity triggering receptor 3 isoform X2

    3. XM_054355124.1 → XP_054211099.1  natural cytotoxicity triggering receptor 3 isoform X14

    4. XM_054355120.1 → XP_054211095.1  natural cytotoxicity triggering receptor 3 isoform X11

    5. XM_054355123.1 → XP_054211098.1  natural cytotoxicity triggering receptor 3 isoform X13

    6. XM_054355121.1 → XP_054211096.1  natural cytotoxicity triggering receptor 3 isoform X12

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14931.1 GenPept UniProtKB/Swiss-Prot:O14931

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