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

    Gene ID: 3824, updated on 11-Sep-2019

    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
    109.20190905 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (10238383..10329608)
    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 long intergenic non-protein coding RNA 2617 Neighboring gene uncharacterized LOC101928100 Neighboring gene KLRC4-KLRK1 readthrough Neighboring gene killer cell lectin like receptor K1

    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

    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_001351063.2NP_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, ENST00000336164.9
      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_147038.2 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

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      10238383..10329608
      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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