Human Gene KLRD1 (ENST00000336164.9) from GENCODE V44
  Description: Homo sapiens killer cell lectin like receptor D1 (KLRD1), transcript variant 9, non-coding RNA. (from RefSeq NR_147040)
RefSeq Summary (NM_002262): 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].
Gencode Transcript: ENST00000336164.9
Gencode Gene: ENSG00000134539.17
Transcript (Including UTRs)
   Position: hg38 chr12:10,307,870-10,329,608 Size: 21,739 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg38 chr12:10,308,078-10,314,793 Size: 6,716 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:10,307,870-10,329,608)mRNA (may differ from genome)Protein (179 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KLRD1_HUMAN
DESCRIPTION: RecName: Full=Natural killer cells antigen CD94; AltName: Full=KP43; AltName: Full=Killer cell lectin-like receptor subfamily D member 1; AltName: Full=NK cell receptor; AltName: CD_antigen=CD94;
FUNCTION: Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells.
SUBUNIT: Can form disulfide-bonded heterodimer with NKG2 family members.
SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein.
TISSUE SPECIFICITY: Natural killer cells.
SIMILARITY: Contains 1 C-type lectin domain.
WEB RESOURCE: Name=Functional Glycomics Gateway - Glycan Binding; Note=CD94; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_238";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KLRD1
Diseases sorted by gene-association score: bare lymphocyte syndrome, type i (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.13 RPKM in Spleen
Total median expression: 22.19 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -17.70208-0.085 Picture PostScript Text
3' UTR -4350.4014815-0.294 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001304 - C-type_lectin
IPR016186 - C-type_lectin-like
IPR016187 - C-type_lectin_fold

Pfam Domains:
PF00059 - Lectin C-type domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1B6E - X-ray MuPIT 3BDW - X-ray MuPIT 3CDG - X-ray MuPIT 3CII - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q13241
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004888 transmembrane signaling receptor activity
GO:0005515 protein binding
GO:0023024 MHC class I protein complex binding
GO:0023030 MHC class Ib protein binding, via antigen binding groove
GO:0030246 carbohydrate binding
GO:1990405 protein antigen binding

Biological Process:
GO:0002228 natural killer cell mediated immunity
GO:0007166 cell surface receptor signaling pathway
GO:0045087 innate immune response
GO:0050776 regulation of immune response

Cellular Component:
GO:0005886 plasma membrane
GO:0009897 external side of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043235 receptor complex


-  Descriptions from all associated GenBank mRNAs
  BC042884 - Homo sapiens killer cell lectin-like receptor subfamily D, member 1, mRNA (cDNA clone IMAGE:5269318), with apparent retained intron.
AK291506 - Homo sapiens cDNA FLJ75697 complete cds, highly similar to Homo sapiens killer cell lectin-like receptor subfamily D, member 1 (KLRD1), transcript variant 1, mRNA.
AY227806 - Homo sapiens killer cell lectin-like receptor subfamily D isoform C (KLRD1) mRNA, complete cds; alternatively spliced.
JD289605 - Sequence 270629 from Patent EP1572962.
AF498040 - Homo sapiens killer cell lectin-like receptor subfamily D transcript 3 (KLRD1) mRNA, complete cds; alternatively spliced.
AF498041 - Homo sapiens killer cell lectin-like receptor subfamily D transcript B2 (KLRD1) mRNA, complete cds; alternatively spliced.
AY327501 - Homo sapiens killer cell lectin-like receptor subfamily D member 1 transcript variant 4 mRNA, complete cds; alternatively spliced.
U30610 - Human CD94 protein mRNA, complete cds.
BC028009 - Homo sapiens killer cell lectin-like receptor subfamily D, member 1, mRNA (cDNA clone MGC:39933 IMAGE:5213081), complete cds.
AB009597 - Homo sapiens mRNA for CD94, complete cds.
AJ000001 - Homo sapiens mRNA for CD94-B NK receptor.
JD504139 - Sequence 485163 from Patent EP1572962.
AB528433 - Synthetic construct DNA, clone: pF1KB6869, Homo sapiens KLRD1 gene for killer cell lectin-like receptor subfamily D, member 1, without stop codon, in Flexi system.
DQ894209 - Synthetic construct Homo sapiens clone IMAGE:100008669; FLH168653.01L; RZPDo839B1093D killer cell lectin-like receptor subfamily D, member 1 (KLRD1) gene, encodes complete protein.
CU688370 - Synthetic construct Homo sapiens gateway clone IMAGE:100016747 5' read KLRD1 mRNA.
DQ891030 - Synthetic construct clone IMAGE:100003660; FLH168657.01X; RZPDo839B1094D killer cell lectin-like receptor subfamily D, member 1 (KLRD1) gene, encodes complete protein.
KJ891517 - Synthetic construct Homo sapiens clone ccsbBroadEn_00911 KLRD1 gene, encodes complete protein.
JD120701 - Sequence 101725 from Patent EP1572962.
JD552847 - Sequence 533871 from Patent EP1572962.
JD114112 - Sequence 95136 from Patent EP1572962.
JD412901 - Sequence 393925 from Patent EP1572962.
JD512901 - Sequence 493925 from Patent EP1572962.
JD316248 - Sequence 297272 from Patent EP1572962.
JD157183 - Sequence 138207 from Patent EP1572962.
JD270511 - Sequence 251535 from Patent EP1572962.
JD270512 - Sequence 251536 from Patent EP1572962.
JD270513 - Sequence 251537 from Patent EP1572962.
JD457400 - Sequence 438424 from Patent EP1572962.
JD292279 - Sequence 273303 from Patent EP1572962.
JD069868 - Sequence 50892 from Patent EP1572962.
JD249917 - Sequence 230941 from Patent EP1572962.
JD249918 - Sequence 230942 from Patent EP1572962.
JD537358 - Sequence 518382 from Patent EP1572962.
JD151045 - Sequence 132069 from Patent EP1572962.
JD255239 - Sequence 236263 from Patent EP1572962.
JD376750 - Sequence 357774 from Patent EP1572962.
JD417674 - Sequence 398698 from Patent EP1572962.
JD538625 - Sequence 519649 from Patent EP1572962.
JD411917 - Sequence 392941 from Patent EP1572962.
JD146670 - Sequence 127694 from Patent EP1572962.
JD083890 - Sequence 64914 from Patent EP1572962.
JD523779 - Sequence 504803 from Patent EP1572962.
JD326119 - Sequence 307143 from Patent EP1572962.
JD548600 - Sequence 529624 from Patent EP1572962.
JD261672 - Sequence 242696 from Patent EP1572962.
JD430403 - Sequence 411427 from Patent EP1572962.
JD557507 - Sequence 538531 from Patent EP1572962.
JD557508 - Sequence 538532 from Patent EP1572962.
JD529582 - Sequence 510606 from Patent EP1572962.
JD529583 - Sequence 510607 from Patent EP1572962.
JD366668 - Sequence 347692 from Patent EP1572962.
JD366666 - Sequence 347690 from Patent EP1572962.
JD366667 - Sequence 347691 from Patent EP1572962.
JD113366 - Sequence 94390 from Patent EP1572962.
JD517905 - Sequence 498929 from Patent EP1572962.
JD517906 - Sequence 498930 from Patent EP1572962.
JD119312 - Sequence 100336 from Patent EP1572962.
JD274638 - Sequence 255662 from Patent EP1572962.
JD256647 - Sequence 237671 from Patent EP1572962.
JD477018 - Sequence 458042 from Patent EP1572962.
JD560783 - Sequence 541807 from Patent EP1572962.
JD477017 - Sequence 458041 from Patent EP1572962.
JD398584 - Sequence 379608 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04612 - Antigen processing and presentation
hsa04650 - Natural killer cell mediated cytotoxicity
hsa05332 - Graft-versus-host disease

BioCarta from NCI Cancer Genome Anatomy Project
h_nkcellsPathway - Ras-Independent pathway in NK cell-mediated cytotoxicity

Reactome (by CSHL, EBI, and GO)

Protein Q13241 (Reactome details) participates in the following event(s):

R-HSA-199062 KLRC1:KLRD1 heterodimer interacts with HLA-E
R-HSA-2172126 DAP12 interacts with NKG2C
R-HSA-210289 Recruitment of SYK to p-DAP12
R-HSA-2395439 Phosphorylation of DAP12
R-HSA-2395412 Phosphorylation of SYK
R-HSA-2424482 p85 regulatory unit of PI3K binds p-6Y-SYK
R-HSA-2395801 Phosphorylation of LAT by p-SYK
R-HSA-2396594 Phosphorylation of SLP-76 by p-SYK
R-HSA-2424484 Phosphorylation of BTK by p-SYK
R-HSA-2424486 Phosphorylation and activation of VAV2/VAV3 by SYK
R-HSA-2424480 PI3K phosphorylates PIP2 to PIP3
R-HSA-2424487 Phosphorylation of PLC-gamma by p-BTK/p-SYK
R-HSA-198933 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
R-HSA-1280218 Adaptive Immune System
R-HSA-2172127 DAP12 interactions
R-HSA-168256 Immune System
R-HSA-168249 Innate Immune System
R-HSA-2424491 DAP12 signaling

-  Other Names for This Gene
  Alternate Gene Symbols: CD94, ENST00000336164.1, ENST00000336164.2, ENST00000336164.3, ENST00000336164.4, ENST00000336164.5, ENST00000336164.6, ENST00000336164.7, ENST00000336164.8, KLRD1_HUMAN, NR_147040, O43321, O43773, Q13241, Q9UBE3, Q9UEQ0, uc001qxx.1, uc001qxx.2, uc001qxx.3, uc001qxx.4, uc001qxx.5
UCSC ID: ENST00000336164.9
RefSeq Accession: NM_002262
Protein: Q13241 (aka KLRD1_HUMAN or CD94_HUMAN)
CCDS: CCDS8621.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.