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

Gene ID: 3824, updated on 24-Nov-2020

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
109.20201120 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 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

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_001114396.3NP_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 109.20201120

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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