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

    Gene ID: 3824, updated on 26-Sep-2021

    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
    NEW
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    Genomic context

    See KLRD1 in Genome Data Viewer
    Location:
    12p13.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (10238383..10329608)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (10391560..10482207)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984509 Neighboring gene GABARAPL1 antisense RNA 1 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 long intergenic non-protein coding RNA 2598

    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
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    GeneReviews: Not available

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of 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)

    NEW Try the new Transcript table

    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_001114396.3NP_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_001351060.2NP_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_001351062.2NP_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_007334.3NP_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 Updated Annotation Release 109.20210514

    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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