Human Gene CDKAL1 (uc003ndd.2) Description and Page Index
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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.146631.1, SRR1803616.131533.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000274695.8/ ENSP00000274695.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr6:20,534,688-21,232,634 Size: 697,947 Total Exon Count: 16 Strand: + Coding Region Position: hg19 chr6:20,546,582-21,231,270 Size: 684,689 Coding Exon Count: 14
ID:CDKAL_HUMAN DESCRIPTION: RecName: Full=Threonylcarbamoyladenosine tRNA methylthiotransferase; EC=2.-.-.-; AltName: Full=CDK5 regulatory subunit-associated protein 1-like 1; AltName: Full=tRNA-t(6)A37 methylthiotransferase; FUNCTION: Catalyzes the methylthiolation of N6- threonylcarbamoyladenosine (t(6)A), leading to the formation of 2- methylthio-N6-threonylcarbamoyladenosine (ms(2)t(6)A) at position 37 in tRNAs that read codons beginning with adenine. COFACTOR: Binds 2 4Fe-4S clusters. One cluster is coordinated with 3 cysteines and an exchangeable S-adenosyl-L-methionine (By similarity). SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass membrane protein. Note=Is a tail-anchored protein that exploits the TCR40 pathway for insertion into the endoplasmic reticulum. TISSUE SPECIFICITY: Expressed in pancreatic islets. DISEASE: Genetic variations in CDKAL1 are a cause of susceptibility to diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]. A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. SIMILARITY: Belongs to the methylthiotransferase family. CDKAL1 subfamily. SIMILARITY: Contains 1 MTTase N-terminal domain. SIMILARITY: Contains 1 TRAM domain. SEQUENCE CAUTION: Sequence=BAC87494.1; Type=Frameshift; Positions=575;
Genetic Association Studies of Complex Diseases and Disorders
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.
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.
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.
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 Q5VV42
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.