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

Gene ID: 259197, updated on 3-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31588895..31593006, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (31441943..31446067, complement)
105.20220307 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
  • 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. Multifunctional NK Cell-Engaging Antibodies Targeting EGFR and NKp30 Elicit Efficient Tumor Cell Killing and Proinflammatory Cytokine Release. Klausz K, et al. J Immunol, 2022 Nov 1. PMID 36104113
  2. Functional capacity of natural killer cells in HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) patients. Queiroz GAN, et al. BMC Infect Dis, 2019 May 17. PMID 31101076, Free PMC Article
  3. Beyond genome-wide scan: Association of a cis-regulatory NCR3 variant with mild malaria in a population living in the Republic of Congo. Baaklini S, et al. PLoS One, 2017. PMID 29121672, Free PMC Article
  4. NKp30 expression is a prognostic immune biomarker for stratification of patients with intermediate-risk acute myeloid leukemia. Chretien AS, et al. Oncotarget, 2017 Jul 25. PMID 28548938, Free PMC Article
  5. Involvement of NK Cells and NKp30 Pathway in Antisynthetase Syndrome. Hervier B, et al. J Immunol, 2016 Sep 1. PMID 27511738

See all (96) citations in PubMed

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)

Genotypes

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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
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
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_2023_10

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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