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NCR1 natural cytotoxicity triggering receptor 1 [ Homo sapiens (human) ]

Gene ID: 9437, updated on 2-Nov-2024

Summary

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Official Symbol
NCR1provided by HGNC
Official Full Name
natural cytotoxicity triggering receptor 1provided by HGNC
Primary source
HGNC:HGNC:6731
See related
Ensembl:ENSG00000189430 MIM:604530; AllianceGenome:HGNC:6731
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LY94; CD335; NKP46; NK-p46
Summary
Predicted to be involved in immune response-regulating signaling pathway. Predicted to act upstream of or within defense response to virus and detection of virus. Predicted to be located in cell surface. Predicted to be part of SWI/SNF complex. Predicted to be active in plasma membrane. Biomarker of acquired immunodeficiency syndrome; anogenital venereal wart; hepatitis C; and lymphoproliferative syndrome. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in spleen (RPKM 1.6), bone marrow (RPKM 0.4) and 12 other tissues See more
Orthologs
mouse all
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Genomic context

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See NCR1 in Genome Data Viewer
Location:
19q13.42
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54898198..54938208)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57992503..58033237)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55417506..55424441)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak3560 silencer Neighboring gene RNA, U6 small nuclear 222, pseudogene Neighboring gene Sharpr-MPRA regulatory region 15416 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55404005-55404755 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55404756-55405506 Neighboring gene Fc alpha receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55431695-55432196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55432197-55432696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55450505-55451214 Neighboring gene NLR family pyrin domain containing 7 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:55461990-55462680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55463371-55464060 Neighboring gene ribosomal protein L36a pseudogene 50 Neighboring gene NLR family pyrin domain containing 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55523225-55523784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55526346-55526910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55527390-55527890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55527891-55528391 Neighboring gene GP6 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55538985-55539689 Neighboring gene glycoprotein VI platelet

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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Related articles in PubMed

  1. Binding of natural cytotoxicity receptor NKp46 to sulfate- and α2,3-NeuAc-containing glycans and its mutagenesis. Ito K, et al. Biochem Biophys Res Commun, 2011 Mar 18. PMID 21329668
  2. Expression of NK-Activating Receptor-NKp46/NCR1 on NK Cells in Patients with Severe Aplastic Anemia. Fu R, et al. Clin Lab, 2015. PMID 26554241
  3. NKp46 regulates the production of serine proteases and IL-22 in human mast cells in urticaria pigmentosa. Ueshima C, et al. Exp Dermatol, 2015 Sep. PMID 25940096
  4. NKp46-specific expression on skin-resident CD4(+) lymphocytes in mycosis fungoides and Sézary syndrome. Schneider P, et al. J Invest Dermatol, 2014 Feb. PMID 23900021
  5. The paradox of NKp46+ natural killer cells: drivers of severe hepatitis C virus-induced pathology but in-vivo resistance to interferon α treatment. Pembroke T, et al. Gut, 2014 Mar. PMID 23665989, Free PMC Article

See all (93) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The NK cell receptor NKp46 recognizes ecto-calreticulin on ER-stressed cells.
    Title: The NK cell receptor NKp46 recognizes ecto-calreticulin on ER-stressed cells.
  2. NK cells that differ in expression of NKp46 might play different roles in endometrium.
    Title: NK cells that differ in expression of NKp46 might play different roles in endometrium.
  3. Co-expression of NKp46 with activating or inhibitory receptors on, and cytokine production by, uterine endometrial NK cells in recurrent pregnancy loss.
    Title: Co-expression of NKp46 with activating or inhibitory receptors on, and cytokine production by, uterine endometrial NK cells in recurrent pregnancy loss.
  4. Expression of natural cytotoxicity receptor NKp46 on peripheral blood natural killer cells in women with a history of recurrent implantation failures.
    Title: Expression of natural cytotoxicity receptor NKp46 on peripheral blood natural killer cells in women with a history of recurrent implantation failures.
  5. Low-dose IL-2 induces CD56(bright) NK regulation of T cells via NKp44 and NKp46.
    Title: Low-dose IL-2 induces CD56(bright) NK regulation of T cells via NKp44 and NKp46.
  6. The Natural Cytotoxicity Receptors in Health and Disease.
    Title: The Natural Cytotoxicity Receptors in Health and Disease.
  7. STAT3 directly bound to the promoter of NKp46, an important activating receptor of NK cells, to regulate its transcription and expression.
    Title: STAT3 directly regulates NKp46 transcription in NK cells of HBeAg-negative CHB patients.
  8. Multifunctional Natural Killer Cell Engagers Targeting NKp46 Trigger Protective Tumor Immunity.
    Title: Multifunctional Natural Killer Cell Engagers Targeting NKp46 Trigger Protective Tumor Immunity.
  9. NKp46 is selectively expressed in aggressive subtypes of primary Gastrointestinal T-cell lymphoma.
    Title: NKp46 is a diagnostic biomarker and may be a therapeutic target in gastrointestinal T-cell lymphoproliferative diseases: a CELAC study.
  10. The regulation of T cell proliferation during HPIV3 infection is mediated via NK receptors NKp44 and NKp46 and involves the surface glycoprotein haemagglutinin-neuraminidase but not the fusion protein of the virus.
    Title: Haemagglutinin-neuraminidase from HPIV3 mediates human NK regulation of T cell proliferation via NKp44 and NKp46.
Submit: New GeneRIF Correction See all GeneRIFs (74)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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 NK cells that respond with IFN-gamma and TNF-alpha cytokine production to HIV-1 gp120 peptides have reduced CD16 and NKp46 expression and have increased levels of CD57 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

Clone Names

  • FLJ99094

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular defense response TAS
Traceable Author Statement
more info
 PubMed 
involved_in immune response-regulating signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in natural killer cell activation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of natural killer cell mediated cytotoxicity TAS
Traceable Author Statement
more info
 PubMed 
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of SWI/SNF complex ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane NAS
Non-traceable Author Statement
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 1
Names
NK cell-activating receptor
lymphocyte antigen 94 homolog (activating NK-receptor; NK-p46)
natural killer cell p46-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.

mRNA and Protein(s)

  1. NM_001145457.3 → NP_001138929.2  natural cytotoxicity triggering receptor 1 isoform b precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. This results in a shorter protein (isoform b) compared to isoform a.
    Source sequence(s)
    AC011476, AC245128, AJ001383, BC064806
    Consensus CDS
    CCDS46181.1
    UniProtKB/TrEMBL
    A0A0A0MTU0, M0QYD1
    Related
    ENSP00000471986.1, ENST00000594765.5
    Conserved Domains (2) summary
    cd05711
    Location:123 → 210
    Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
    cd05751
    Location:27 → 118
    Ig1_LILRB1_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILR)B1 (also known as LIR-1) and similar proteins

  2. NM_001145458.3 → NP_001138930.2  natural cytotoxicity triggering receptor 1 isoform c precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform c) compared to isoform a.
    Source sequence(s)
    AC011476, AC245128, AJ001383, AJ006121
    Consensus CDS
    CCDS46182.1
    UniProtKB/TrEMBL
    A0A0A0MR94, M0QYD1
    Related
    ENSP00000339515.4, ENST00000338835.9
    Conserved Domains (2) summary
    cd05711
    Location:123 → 210
    Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
    cd05751
    Location:27 → 118
    Ig1_LILRB1_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILR)B1 (also known as LIR-1) and similar proteins

  3. NM_001242356.3 → NP_001229285.1  natural cytotoxicity triggering receptor 1 isoform d precursor

    See identical proteins and their annotated locations for NP_001229285.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate exon in the 5' coding region compared variant 1. The resulting protein (isoform d) is shorter but has the same N- and C-termini compared to isoform a.
    Source sequence(s)
    AC011476, AC245128, AJ001383, AJ006123
    Consensus CDS
    CCDS56103.1
    UniProtKB/Swiss-Prot
    O76036
    Related
    ENSP00000344358.4, ENST00000350790.9
    Conserved Domains (1) summary
    cd05711
    Location:28 → 115
    Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI

  4. NM_001242357.3 → NP_001229286.1  natural cytotoxicity triggering receptor 1 isoform e precursor

    See identical proteins and their annotated locations for NP_001229286.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks two alternate exons in the coding region compared to variant 1. The resulting protein (isoform e) is shorter but has the same N- and C-termini compared to isoform a.
    Source sequence(s)
    AC011476, AC245128, AJ001383, AJ006123
    UniProtKB/Swiss-Prot
    O76036
    Conserved Domains (1) summary
    cd05711
    Location:28 → 115
    Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI

  5. NM_004829.7 → NP_004820.2  natural cytotoxicity triggering receptor 1 isoform a precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC011476, AC245128, AJ001383
    Consensus CDS
    CCDS12911.1
    UniProtKB/Swiss-Prot
    B0V3L2, B0V3L3, B0V3L4, B0V3L5, B8JL03, O76016, O76017, O76018, O76036
    UniProtKB/TrEMBL
    A0A0A0MQZ0, A0A0G2JN91, M0QYD1
    Related
    ENSP00000291890.3, ENST00000291890.9
    Conserved Domains (2) summary
    cd05711
    Location:123 → 210
    Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
    cd05751
    Location:27 → 118
    Ig1_LILRB1_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILR)B1 (also known as LIR-1) and similar proteins

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    54898198..54938208
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047439727.1 → XP_047295683.1  natural cytotoxicity triggering receptor 1 isoform X3

  2. XM_011527530.4 → XP_011525832.1  natural cytotoxicity triggering receptor 1 isoform X2

    UniProtKB/TrEMBL
    A0A0G2JM44
    Conserved Domains (2) summary
    cd05711
    Location:123 → 210
    Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
    cd05751
    Location:27 → 118
    Ig1_LILRB1_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILR)B1 (also known as LIR-1) and similar proteins

  3. XM_011527529.4 → XP_011525831.1  natural cytotoxicity triggering receptor 1 isoform X1

    UniProtKB/TrEMBL
    A0A0G2JM44
    Conserved Domains (2) summary
    cd05711
    Location:123 → 210
    Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
    cd05751
    Location:27 → 118
    Ig1_LILRB1_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILR)B1 (also known as LIR-1) and similar proteins

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107304.1 Reference GRCh38.p14 PATCHES

    Range
    235221..239170
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107312.1 Reference GRCh38.p14 PATCHES

    Range
    1889..5838 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    801588..841606
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329706.1 → XP_054185681.1  natural cytotoxicity triggering receptor 1 isoform X3

  2. XM_054329705.1 → XP_054185680.1  natural cytotoxicity triggering receptor 1 isoform X2

  3. XM_054329704.1 → XP_054185679.1  natural cytotoxicity triggering receptor 1 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    543372..584149
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330207.1 → XP_054186182.1  natural cytotoxicity triggering receptor 1 isoform X3

  2. XM_054330206.1 → XP_054186181.1  natural cytotoxicity triggering receptor 1 isoform X2

  3. XM_054330205.1 → XP_054186180.1  natural cytotoxicity triggering receptor 1 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NW_003571056.2 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    878176..918933
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330503.1 → XP_054186478.1  natural cytotoxicity triggering receptor 1 isoform X3

  2. XM_054330502.1 → XP_054186477.1  natural cytotoxicity triggering receptor 1 isoform X2

  3. XM_054330501.1 → XP_054186476.1  natural cytotoxicity triggering receptor 1 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_4

Genomic

  1. NW_003571057.2 Reference GRCh38.p14 ALT_REF_LOCI_4

    Range
    905713..946470
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330753.1 → XP_054186728.1  natural cytotoxicity triggering receptor 1 isoform X3

  2. XM_054330752.1 → XP_054186727.1  natural cytotoxicity triggering receptor 1 isoform X2

  3. XM_054330751.1 → XP_054186726.1  natural cytotoxicity triggering receptor 1 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

  1. NW_003571058.2 Reference GRCh38.p14 ALT_REF_LOCI_5

    Range
    880262..921019
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330984.1 → XP_054186959.1  natural cytotoxicity triggering receptor 1 isoform X3

  2. XM_054330983.1 → XP_054186958.1  natural cytotoxicity triggering receptor 1 isoform X2

  3. XM_054330982.1 → XP_054186957.1  natural cytotoxicity triggering receptor 1 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

  1. NW_003571059.2 Reference GRCh38.p14 ALT_REF_LOCI_6

    Range
    816555..856573
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331267.1 → XP_054187242.1  natural cytotoxicity triggering receptor 1 isoform X3

  2. XM_054331266.1 → XP_054187241.1  natural cytotoxicity triggering receptor 1 isoform X2

  3. XM_054331265.1 → XP_054187240.1  natural cytotoxicity triggering receptor 1 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

  1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

    Range
    802558..842560
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331537.1 → XP_054187512.1  natural cytotoxicity triggering receptor 1 isoform X3

  2. XM_054331536.1 → XP_054187511.1  natural cytotoxicity triggering receptor 1 isoform X2

  3. XM_054331535.1 → XP_054187510.1  natural cytotoxicity triggering receptor 1 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_8

Genomic

  1. NW_003571061.2 Reference GRCh38.p14 ALT_REF_LOCI_8

    Range
    610351..651108
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333581.1 → XP_054189556.1  natural cytotoxicity triggering receptor 1 isoform X3

  2. XM_054333580.1 → XP_054189555.1  natural cytotoxicity triggering receptor 1 isoform X2

  3. XM_054333579.1 → XP_054189554.1  natural cytotoxicity triggering receptor 1 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_9

Genomic

  1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

    Range
    880672..920690
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333683.1 → XP_054189658.1  natural cytotoxicity triggering receptor 1 isoform X3

  2. XM_054333682.1 → XP_054189657.1  natural cytotoxicity triggering receptor 1 isoform X2

  3. XM_054333681.1 → XP_054189656.1  natural cytotoxicity triggering receptor 1 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_23

Genomic

  1. NT_187671.1 Reference GRCh38.p14 ALT_REF_LOCI_23

    Range
    185095..189044
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_26

Genomic

  1. NT_187674.1 Reference GRCh38.p14 ALT_REF_LOCI_26

    Range
    192168..196117
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_27

Genomic

  1. NT_187675.1 Reference GRCh38.p14 ALT_REF_LOCI_27

    Range
    276387..280336
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_28

Genomic

  1. NT_187676.1 Reference GRCh38.p14 ALT_REF_LOCI_28

    Range
    182098..186047
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_29

Genomic

  1. NT_187677.1 Reference GRCh38.p14 ALT_REF_LOCI_29

    Range
    183515..187464
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_30

Genomic

  1. NT_187683.1 Reference GRCh38.p14 ALT_REF_LOCI_30

    Range
    180366..184315
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    57992503..58033237
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322692.1 → XP_054178667.1  natural cytotoxicity triggering receptor 1 isoform X3

  2. XM_054322691.1 → XP_054178666.1  natural cytotoxicity triggering receptor 1 isoform X2

  3. XM_054322690.1 → XP_054178665.1  natural cytotoxicity triggering receptor 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O76036.2 GenPept UniProtKB/Swiss-Prot:O76036

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