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

Gene ID: 3824, updated on 7-Dec-2018

Summary

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
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

Genomic context

See KLRD1 in Genome Data Viewer
Location:
12p13.2
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (10238383..10329607)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (10457050..10469850)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984509 Neighboring gene GABA type A receptor associated protein like 1 Neighboring gene uncharacterized LOC105369656 Neighboring gene uncharacterized LOC101928100 Neighboring gene KLRC4-KLRK1 readthrough Neighboring gene killer cell lectin like receptor K1 Neighboring gene killer cell lectin like receptor C4

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
NHGRI GWA Catalog

HIV-1 interactions

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 BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing and presentation, organism-specific biosystem (from KEGG)
    Antigen processing and presentation, organism-specific biosystem
    Antigen processing and presentation
  • Antigen processing and presentation, conserved biosystem (from KEGG)
    Antigen processing and presentation, conserved biosystem
    Antigen processing and presentation
  • DAP12 interactions, organism-specific biosystem (from REACTOME)
    DAP12 interactions, organism-specific biosystemDNAX activation protein of 12kDa (DAP12) is an immunoreceptor tyrosine-based activation motif (ITAM)-bearing adapter molecule that transduces activating signals in natural killer (NK) and myeloid cel...
  • DAP12 signaling, organism-specific biosystem (from REACTOME)
    DAP12 signaling, organism-specific biosystemIn response to receptor ligation, the tyrosine residues in DAP12's immunoreceptor tyrosine-based activation motif (ITAM) are phosphorylated by Src family kinases. These phosphotyrosines form the dock...
  • Graft-versus-host disease, organism-specific biosystem (from KEGG)
    Graft-versus-host disease, organism-specific biosystemGraft-versus-host disease (GVHD) is a lethal complication of allogeneic hematopoietic stem cell transplantation (HSCT) where immunocompetent donor T cells attack the genetically disparate host cells....
  • Graft-versus-host disease, conserved biosystem (from KEGG)
    Graft-versus-host disease, conserved biosystemGraft-versus-host disease (GVHD) is a lethal complication of allogeneic hematopoietic stem cell transplantation (HSCT) where immunocompetent donor T cells attack the genetically disparate host cells....
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystem (from REACTOME)
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystemA number of receptors and cell adhesion molecules play a key role in modifying the response of cells of lymphoid origin (such as B-, T- and NK cells) to self and tumor antigens, as well as to pathoge...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Natural killer cell mediated cytotoxicity, organism-specific biosystem (from KEGG)
    Natural killer cell mediated cytotoxicity, organism-specific biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...
  • Natural killer cell mediated cytotoxicity, conserved biosystem (from KEGG)
    Natural killer cell mediated cytotoxicity, conserved biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
MHC class I protein complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
MHC class Ib protein binding, via antigen binding groove IPI
Inferred from Physical Interaction
more info
PubMed 
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
protein antigen binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
innate immune response TAS
Traceable Author Statement
more info
 
natural killer cell mediated immunity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of immune response TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_001114396.2NP_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
    Related
    ENSP00000371333.4, ENST00000381908.7
    Conserved Domains (1) summary
    cd03593
    Location:61176
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
  2. NM_001351060.1NP_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:61174
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
  3. NM_001351062.1NP_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
    Conserved Domains (1) summary
    cd03593
    Location:61176
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
  4. NM_001351063.1NP_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
    Related
    ENSP00000443584.1, ENST00000543777.5
    Conserved Domains (1) summary
    cd03593
    Location:40155
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
  5. NM_002262.5NP_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
    Related
    ENSP00000338130.4, ENST00000336164.8
    Conserved Domains (1) summary
    cd03593
    Location:61176
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
  6. NM_007334.2NP_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:30145
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

RNA

  1. NR_147038.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC022075
  2. NR_147039.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC022075, AF498040
  3. NR_147040.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC022075, AF498041

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    10238383..10329607
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019287.1XP_016874776.1  natural killer cells antigen CD94 isoform X2

  2. XM_017019286.1XP_016874775.1  natural killer cells antigen CD94 isoform X1

    Conserved Domains (1) summary
    cd03593
    Location:61174
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
  3. XM_011520650.2XP_011518952.1  natural killer cells antigen CD94 isoform X1

    Conserved Domains (1) summary
    cd03593
    Location:61174
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
  4. XM_017019288.2XP_016874777.1  natural killer cells antigen CD94 isoform X3

  5. XM_017019289.2XP_016874778.1  natural killer cells antigen CD94 isoform X4

  6. XM_017019285.2XP_016874774.1  natural killer cells antigen CD94 isoform X1

    Conserved Domains (1) summary
    cd03593
    Location:61174
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
  7. XM_024448974.1XP_024304742.1  natural killer cells antigen CD94 isoform X1

    Conserved Domains (1) summary
    cd03593
    Location:61174
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
  8. XM_006719067.4XP_006719130.1  natural killer cells antigen CD94 isoform X6

    Conserved Domains (1) summary
    cd03593
    Location:61174
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
  9. XM_011520651.3XP_011518953.1  natural killer cells antigen CD94 isoform X5

    Conserved Domains (1) summary
    cd03593
    Location:61174
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

RNA

  1. XR_001748697.2 RNA Sequence

  2. XR_001748696.2 RNA Sequence

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