Human Gene KLRD1 (uc001qxx.4) Description and Page Index
  Description: Homo sapiens killer cell lectin-like receptor subfamily D, member 1 (KLRD1), transcript variant 1, mRNA.
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].
Transcript (Including UTRs)
   Position: hg19 chr12:10,460,417-10,469,850 Size: 9,434 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr12:10,460,677-10,467,392 Size: 6,716 Coding Exon Count: 6 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:10,460,417-10,469,850)mRNA (may differ from genome)Protein (179 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
OMIMPubMedStanford SOURCETreefamUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KLRD1
CDC HuGE Published Literature: KLRD1
Positive Disease Associations: rheumatic diseases
Related Studies:
  1. rheumatic diseases
    Hikami K 2003, Variations of human killer cell lectin-like receptors: common occurrence of NKG2-C deletion inthe general population., Genes and immunity. 2003 Mar;4(2):160-7. [PubMed 12618865]
    These results demonstrated that, although human NKG2-A, -C and CD94 are generally conserved with respect to amino acid sequences, NKG2-A is polymorphic in the noncoding region, and that the number of genes encoded in the human NKC is variable among individuals, as previously shown for the leukocyte receptor complex (LRC), HLA and Fcgamma receptor (FCGR) regions.

-  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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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 -37.98260-0.146 Picture PostScript Text
3' UTR -852.922458-0.347 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

SCOP Domains:
56436 - C-type lectin-like

ModBase Predicted Comparative 3D Structure on Q53ZY6
FrontTopSide
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
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0030246 carbohydrate binding

Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane


-  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.
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.
JD463857 - Sequence 444881 from Patent EP1572962.
JD148347 - Sequence 129371 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.
JD247028 - Sequence 228052 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.
JD169998 - Sequence 151022 from Patent EP1572962.
JD170000 - Sequence 151024 from Patent EP1572962.
JD405630 - Sequence 386654 from Patent EP1572962.
JD457558 - Sequence 438582 from Patent EP1572962.
JD457559 - Sequence 438583 from Patent EP1572962.
JD457560 - Sequence 438584 from Patent EP1572962.
JD523091 - Sequence 504115 from Patent EP1572962.
JD076845 - Sequence 57869 from Patent EP1572962.
JD108771 - Sequence 89795 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

-  Other Names for This Gene
  Alternate Gene Symbols: hCG_37262, NM_002262, NP_031360, Q53ZY6, Q53ZY6_HUMAN
UCSC ID: uc001qxx.4
RefSeq Accession: NM_002262
Protein: Q53ZY6 CCDS: CCDS8621.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002262.3
exon count: 6CDS single in 3' UTR: no RNA size: 3258
ORF size: 540CDS single in intron: no Alignment % ID: 99.97
txCdsPredict score: 1245.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 160# strange splices: 0
Click here for a detailed description of the fields of the table above.

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