Homo sapiens Protein: CDKAL1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-64193.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | CDKAL1 | ||||||||||||||||||||||
Protein Name | CDK5 regulatory subunit associated protein 1-like 1 | ||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000274695 | ||||||||||||||||||||||
InnateDB Gene | IDBG-64189 (CDKAL1) | ||||||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||||||
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. {ECO:0000269PubMed:20584901}. | ||||||||||||||||||||||
Subcellular Localization | Endoplasmic reticulum membrane {ECO:0000269PubMed:23048041}; Single-pass membrane protein {ECO:0000269PubMed:23048041}. Note=Is a tail-anchored protein that exploits the TCR40 pathway for insertion into the endoplasmic reticulum. | ||||||||||||||||||||||
Disease Associations | 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. {ECO:0000269PubMed:17460697, ECO:0000269PubMed:17463246}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Expressed in pancreatic islets. {ECO:0000269PubMed:23048041}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR002792
TRAM domain IPR005839 Methylthiotransferase IPR006466 MiaB-like tRNA modifying enzyme, archaeal-type IPR006638 Elongator protein 3/MiaB/NifB IPR007197 Radical SAM IPR013848 Methylthiotransferase, N-terminal |
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PFAM |
PF01938
PF04055 PF00919 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00729
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q5VV42 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q5VV42 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 54901 | ||||||||||||||||||||||
UniGene | Hs.678078 | ||||||||||||||||||||||
RefSeq | NP_060244 | ||||||||||||||||||||||
HUGO | HGNC:21050 | ||||||||||||||||||||||
OMIM | 611259 | ||||||||||||||||||||||
CCDS | CCDS4546 | ||||||||||||||||||||||
HPRD | 13022 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AK000349 AK128546 AK291735 AL022717 AL033521 AL035090 AL451080 AL512405 AL513015 AL513188 AL513549 BC064145 BC121020 BC121021 CH471087 | ||||||||||||||||||||||
GenPept | AAH64145 AAI21021 AAI21022 BAA91102 BAC87494 BAF84424 CAH72467 CAH72474 CAH73074 CAH73706 CAI19768 CAI20280 CAI21023 CAI21687 EAW55426 | ||||||||||||||||||||||