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
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:
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.
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.
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.
ModBase Predicted Comparative 3D Structure on Q53ZY6
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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.