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KLRD1 killer cell lectin like receptor D1 [ Homo sapiens (human) ]

Gene ID: 3824, updated on 8-Dec-2022

Summary

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Official Symbol
KLRD1provided by HGNC
Official Full Name
killer cell lectin like receptor D1provided by HGNC
Primary source
HGNC:HGNC:6378
See related
Ensembl:ENSG00000134539 MIM:602894; AllianceGenome:HGNC:6378
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
CD94
Summary
Natural killer (NK) cells are a distinct lineage of lymphocytes that mediate cytotoxic activity and secrete cytokines upon immune stimulation. Several genes of the C-type lectin superfamily, including members of the NKG2 family, are expressed by NK cells and may be involved in the regulation of NK cell function. KLRD1 (CD94) is an antigen preferentially expressed on NK cells and is classified as a type II membrane protein because it has an external C terminus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]
Expression
Broad expression in spleen (RPKM 3.3), lung (RPKM 0.9) and 15 other tissues See more
Orthologs
all
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Genomic context

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See KLRD1 in Genome Data Viewer
Location:
12p13.2
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (10238961..10329608)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (10125682..10216423)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (10391560..10482207)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene oxidized low density lipoprotein receptor 1 Neighboring gene transmembrane protein 52B Neighboring gene GABARAPL1 antisense RNA 1 Neighboring gene GABA type A receptor associated protein like 1 Neighboring gene uncharacterized LOC124902875 Neighboring gene uncharacterized LOC105369656 Neighboring gene long intergenic non-protein coding RNA 2617 Neighboring gene long intergenic non-protein coding RNA 2598

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. CD94 expression patterns in reactive and neoplastic T-cell and NK-cell proliferations. Fang H, et al. Leuk Res, 2021 Sep. PMID 33990003
  2. HLAs, TCRs, and KIRs, a Triumvirate of Human Cell-Mediated Immunity. Djaoud Z, et al. Annu Rev Biochem, 2020 Jun 20. PMID 32569519
  3. KLRD1-expressing natural killer cells predict influenza susceptibility. Bongen E, et al. Genome Med, 2018 Jun 14. PMID 29898768, Free PMC Article
  4. Synergistic inhibition of natural killer cells by the nonsignaling molecule CD94. Cheent KS, et al. Proc Natl Acad Sci U S A, 2013 Oct 15. PMID 24082146, Free PMC Article
  5. Differential expression of NK receptors CD94 and NKG2A by T cells in rheumatoid arthritis patients in remission compared to active disease. Walsh CE, et al. PLoS One, 2011. PMID 22102879, Free PMC Article

See all (81) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Reduced expansion of CD94/NKG2C(+) NK cells in chronic lymphocytic leukemia and CLL-like monoclonal B-cell lymphocytosis is not related to increased human cytomegalovirus seronegativity or NKG2C deletions.
    Title: Reduced expansion of CD94/NKG2C<sup>+</sup> NK cells in chronic lymphocytic leukemia and CLL-like monoclonal B-cell lymphocytosis is not related to increased human cytomegalovirus seronegativity or NKG2C deletions.
  2. KLRD1, FOSL2 and LILRB3 as potential biomarkers for plaques progression in acute myocardial infarction and stable coronary artery disease.
    Title: KLRD1, FOSL2 and LILRB3 as potential biomarkers for plaques progression in acute myocardial infarction and stable coronary artery disease.
  3. CD94 expression patterns in reactive and neoplastic T-cell and NK-cell proliferations.
    Title: CD94 expression patterns in reactive and neoplastic T-cell and NK-cell proliferations.
  4. The CD94/NKG2A inhibitory receptor educates uterine NK cells to optimize pregnancy outcomes in humans and mice.
    Title: The CD94/NKG2A inhibitory receptor educates uterine NK cells to optimize pregnancy outcomes in humans and mice.
  5. HLAs, TCRs, and KIRs, a Triumvirate of Human Cell-Mediated Immunity.
    Title: HLAs, TCRs, and KIRs, a Triumvirate of Human Cell-Mediated Immunity.
  6. NKG2A/CD94 Is a New Immune Receptor for HLA-G and Distinguishes Amino Acid Differences in the HLA-G Heavy Chain.
    Title: NKG2A/CD94 Is a New Immune Receptor for HLA-G and Distinguishes Amino Acid Differences in the HLA-G Heavy Chain.
  7. The inhibitory receptor CD94/NKG2A on CD8(+) tumor-infiltrating lymphocytes in colorectal cancer: a promising new druggable immune checkpoint in the context of HLAE/beta2m overexpression.
    Title: The inhibitory receptor CD94/NKG2A on CD8<sup>+</sup> tumor-infiltrating lymphocytes in colorectal cancer: a promising new druggable immune checkpoint in the context of HLAE/β2m overexpression.
  8. an early response by KLRD1-expressing Natural killer cells may control influenza infection.
    Title: KLRD1-expressing natural killer cells predict influenza susceptibility.
  9. Collectively, these results provide evidence for the first time that CD94/NKG2C is involved in chronic graft-versus-host disease prevention
    Title: The Activating NKG2C Receptor Is Significantly Reduced in NK Cells after Allogeneic Stem Cell Transplantation in Patients with Severe Graft-versus-Host Disease.
  10. CD94 and NKG2A polymorphisms may contribute to genetic susceptibility to rheumatoid arthritis or affect the response to anti-TNF therapy in patients of Caucasian origin.
    Title: Influence of CD94 and NKG2A variants on susceptibility to rheumatoid arthritis and efficacy of anti-TNF treatment.
Submit: New GeneRIF Correction See all GeneRIFs (51)

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

EBI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
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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Replication interactions

Interaction Pubs
HIV/tuberculosis coinfection upregulates KLRD1 expression in pleural fluid mononuclear cells (PFMC) isolated from antiretroviral-naive coinfected patients (relative to patients infected with only tuberculosis) 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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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables HLA-E specific inhibitory MHC class Ib receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables MHC class I protein complex binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables MHC class Ib protein binding, via antigen binding groove IPI
Inferred from Physical Interaction
more info
 PubMed 
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
  
enables protein antigen binding 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 adaptive immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in natural killer cell mediated immunity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of T cell mediated cytotoxicity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of natural killer cell mediated cytotoxicity 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
 PubMed 
involved_in positive regulation of natural killer cell mediated cytotoxicity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of natural killer cell activation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in stimulatory C-type lectin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in stimulatory C-type lectin receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of receptor complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
natural killer cells antigen CD94
Names
CD94 antigen
KP43
NK cell receptor
killer cell lectin-like receptor subfamily D, member 1

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_001114396.3 → NP_001107868.2  natural killer cells antigen CD94 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), as well as variants 1 and 5, encodes isoform 1.
    Source sequence(s)
    AC022075, AK291506
    Consensus CDS
    CCDS8621.1
    UniProtKB/Swiss-Prot
    Q9UEQ0
    Related
    ENSP00000371333.4, ENST00000381908.7
    Conserved Domains (1) summary
    cd03593
    Location:61 → 176
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

  2. NM_001351060.2 → NP_001337989.1  natural killer cells antigen CD94 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes the longest isoform (3).
    Source sequence(s)
    AC022075, AC115676
    Conserved Domains (1) summary
    cd03593
    Location:61 → 174
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

  3. NM_001351062.2 → NP_001337991.1  natural killer cells antigen CD94 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 1 and 3, encodes isoform 1.
    Source sequence(s)
    AC022075
    Consensus CDS
    CCDS8621.1
    UniProtKB/Swiss-Prot
    Q9UEQ0
    Conserved Domains (1) summary
    cd03593
    Location:61 → 176
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

  4. NM_001351063.2 → NP_001337992.1  natural killer cells antigen CD94 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) encodes isoform 4.
    Source sequence(s)
    AC022075, AY327501
    Consensus CDS
    CCDS86281.1
    UniProtKB/TrEMBL
    F6WZH4
    Related
    ENSP00000443584.1, ENST00000543777.5
    Conserved Domains (1) summary
    cd03593
    Location:40 → 155
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

  5. NM_001414224.1 → NP_001401153.1  natural killer cells antigen CD94 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC022075

  6. NM_001414225.1 → NP_001401154.1  natural killer cells antigen CD94 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC022075

  7. NM_002262.5 → NP_002253.2  natural killer cells antigen CD94 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) , as well as variants 3 and 5, encodes isoform 1.
    Source sequence(s)
    AC022075, U30610
    Consensus CDS
    CCDS8621.1
    UniProtKB/Swiss-Prot
    Q9UEQ0
    Related
    ENSP00000338130.4, ENST00000336164.9
    Conserved Domains (1) summary
    cd03593
    Location:61 → 176
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

  8. NM_007334.3 → NP_031360.1  natural killer cells antigen CD94 isoform 2

    See identical proteins and their annotated locations for NP_031360.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes isoform 2.
    Source sequence(s)
    AB009597, AC022075
    Consensus CDS
    CCDS8622.1
    UniProtKB/Swiss-Prot
    Q13241
    Related
    ENSP00000310929.7, ENST00000350274.9
    Conserved Domains (1) summary
    cd03593
    Location:30 → 145
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

RNA

  1. NR_147038.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC022075

  2. NR_147039.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC022075, AF498040

  3. NR_147040.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC022075, AF498041

  4. NR_182262.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC022075

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    10238961..10329608
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428821.1 → XP_047284777.1  natural killer cells antigen CD94 isoform X1

  2. XM_047428825.1 → XP_047284781.1  natural killer cells antigen CD94 isoform X7

  3. XM_011520651.4 → XP_011518953.1  natural killer cells antigen CD94 isoform X6

    Conserved Domains (1) summary
    cd03593
    Location:61 → 174
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

  4. XM_024448974.2 → XP_024304742.1  natural killer cells antigen CD94 isoform X3

    Conserved Domains (1) summary
    cd03593
    Location:61 → 174
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

  5. XM_047428822.1 → XP_047284778.1  natural killer cells antigen CD94 isoform X2

  6. XM_047428823.1 → XP_047284779.1  natural killer cells antigen CD94 isoform X4

  7. XM_047428824.1 → XP_047284780.1  natural killer cells antigen CD94 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    10125682..10216423
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13241.2 GenPept UniProtKB/Swiss-Prot:Q13241

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