• Gene id: 54901

Gene Summary

• Gene Symbol: CDKAL1   Gene   UCSC   Ensembl
• Gene name: CDK5 regulatory subunit associated protein 1 like 1
• Alternate names: threonylcarbamoyladenosine tRNA methylthiotransferase, tRNA-t(6)A37 methylthiotransferase,
• Gene location: 6p22.3 (20534456: 21232403)     Exons: 22     NC_000006.12
• Gene summary(Entrez): 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 di
• OMIM: 615967

Protein Summary

• Protein general information: Q5VV42  
  • Name: Threonylcarbamoyladenosine tRNA methylthiotransferase (EC 2.8.4.5) (CDK5 regulatory subunit associated protein 1 like 1) (tRNA t(6)A37 methylthiotransferase)
  • Length: 579  
  • Mass: 65111
  • Tissue specificity: Expressed in pancreatic islets. {ECO
• Sequence:

  MPSASCDTLLDDIEDIVSQEDSKPQDRHFVRKDVVPKVRRRNTQKYLQEEENSPPSDSTIPGIQKIWIRTWGCSH
  NNSDGEYMAGQLAAYGYKITENASDADLWLLNSCTVKNPAEDHFRNSIKKAQEENKKIVLAGCVPQAQPRQDYLK
  GLSIIGVQQIDRVVEVVEETIKGHSVRLLGQKKDNGRRLGGARLDLPKIRKNPLIEIISINTGCLNACTYCKTKH
  ARGNLASYPIDELVDRAKQSFQEGVCEIWLTSEDTGAYGRDIGTNLPTLLWKLVEVIPEGAMLRLGMTNPPYILE
  HLEEMAKILNHPRVYAFLHIPVQSASDSVLMEMKREYCVADFKRVVDFLKEKVPGITIATDIICGFPGETDQDFQ
  ETVKLVEEYKFPSLFINQFYPRPGTPAAKMEQVPAQVKKQRTKDLSRVFHSYSPYDHKIGERQQVLVTEESFDSK
  FYVAHNQFYEQVLVPKNPAFMGKMVEVDIYESGKHFMKGQPVSDAKVYTPSISKPLAKGEVSGLTKDFRNGLGNQ
  LSSGSHTSAASQCDSASSRMVLPMPRLHQDCALRMSVGLALLGLLFAFFVKVYN

• Structural information:
  • Protein Domains: (64..17-)
    (/note="MTTase-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00780-)
    (431..49-)
    (/note="TRAM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00208"-)
  • Interpro: IPR006638  IPR005839  IPR020612  IPR013848  IPR038135   IPR006466  IPR007197  IPR023404  IPR002792  
  • Prosite: PS51449 PS01278 PS50926
  • STRING: ENSP00000274695
• Other Databases: GeneCards:  CDKAL1  Malacards:  CDKAL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0035596	methylthiotransferase activity	IBA	molecular function
GO:0035598	N6-threonylcarbomyladenosine methylthiotransferase activity	IBA	molecular function
GO:0035600	tRNA methylthiolation	IBA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0035596	methylthiotransferase activity	IEA	molecular function
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0006400	tRNA modification	IEA	biological process
GO:0035598	N6-threonylcarbomyladenosine methylthiotransferase activity	IEA	molecular function
GO:0035600	tRNA methylthiolation	IEA	biological process
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0008033	tRNA processing	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0061712	tRNA (N(6)-L-threonylcarbamoyladenosine(37)-C(2))-methylthiotransferase	IEA	molecular function
GO:0006400	tRNA modification	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005791	rough endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:1990145	maintenance of translational fidelity	IEA	biological process
GO:0035600	tRNA methylthiolation	IEA	biological process
GO:0035598	N6-threonylcarbomyladenosine methylthiotransferase activity	IEA	molecular function
GO:0008150	biological_process	ND	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Type 2 diabetes mellitus	KEGG:H00409
Type 2 diabetes mellitus	KEGG:H00409
Gestational diabetes	PMID:19002430
diabetes mellitus	PMID:19741467
type 2 diabetes mellitus	PMID:18633108
type 2 diabetes mellitus	PMID:19401414
type 2 diabetes mellitus	PMID:18991055
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray