Description: Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA. RefSeq Summary (NM_017774): The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Transcript (Including UTRs) Position: hg19 chr6:20,534,688-20,559,903 Size: 25,216 Total Exon Count: 6 Strand: + Coding Region Position: hg19 chr6:20,546,582-20,558,780 Size: 12,199 Coding Exon Count: 3
Albuminuria Shih-Jen Hwang et al. BMC medical genetics 2007, A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study., BMC medical genetics.
[PubMed 17903292]
Kidney function traits and TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K SNP set. These data will serve as a valuable resource for replication as more SNPs associated with kidney function and endocrine traits are identified.
Body Mass Index Wanqing Wen et al. Nature genetics 2012, Meta-analysis identifies common variants associated with body mass index in east Asians., Nature genetics.
[PubMed 22344219]
Body Mass Index Yukinori Okada et al. Nature genetics 2012, Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations., Nature genetics.
[PubMed 22344221]
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
Pfam Domains: PF00919 - Uncharacterized protein family UPF0004
ModBase Predicted Comparative 3D Structure on Q5VV42-3
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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.