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

Gene ID: 259197, updated on 1-Jun-2020

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

Genomic context

See NCR3 in Genome Data Viewer
Location:
6p21.33
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (31588895..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

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
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

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

Gene Ontology Provided by GOA

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

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)

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.

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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