Description: Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA. RefSeq Summary (NM_015226): This gene encodes a member of the C-type lectin domain containing family. Single nucleotide polymorphisms in introns of this gene have been associated with diabetes mellitus, multiple sclerosis and rheumatoid arthritis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. Transcript (Including UTRs) Position: hg19 chr16:11,038,345-11,276,046 Size: 237,702 Total Exon Count: 23 Strand: + Coding Region Position: hg19 chr16:11,038,575-11,272,547 Size: 233,973 Coding Exon Count: 23
ID:CL16A_HUMAN DESCRIPTION: RecName: Full=Protein CLEC16A; TISSUE SPECIFICITY: Almost exclusively expressed in immune cells, including dendritic cells, B-lymphocytes and natural killer cells. DISEASE: Note=Insulin-dependent diabetes mellitus is significantly associated with variation within a 233-kb linkage disequilibrium block on chromosome 16p13 that includes KIAA0350. Three common non-coding variants of KIAA0350 in strong linkage disequilibrium reach genome-wide significance for association with the disease (PubMed:17632545). SIMILARITY: Belongs to the CLEC16A/gop-1 family. SEQUENCE CAUTION: Sequence=BAA20807.3; Type=Erroneous initiation;
Cholesterol, HDL Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903299]
Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
Diabetes Mellitus, Type 1 John A Todd et al. Nature genetics 2007, Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes., Nature genetics.
[PubMed 17554260]
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.
Pfam Domains: PF09758 - Uncharacterised conserved protein
ModBase Predicted Comparative 3D Structure on Q2KHT3
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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.
Biological Process: GO:0006914 autophagy GO:0009267 cellular response to starvation GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process GO:1901097 negative regulation of autophagosome maturation GO:1901098 positive regulation of autophagosome maturation GO:1901525 negative regulation of macromitophagy GO:1904263 positive regulation of TORC1 signaling GO:1904766 negative regulation of macroautophagy by TORC1 signaling
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
