• Gene id: 51654

Gene Summary

• Gene Symbol: CDK5RAP1   Gene   UCSC   Ensembl
• Aliases: C20orf34, C42, CGI-05, HSPC167
• Gene name: CDK5 regulatory subunit associated protein 1
• Alternate names: mitochondrial tRNA methylthiotransferase CDK5RAP1, CDK5 regulatory subunit-associated protein 1, CDK5 activator-binding protein C42, mt-tRNA-2-methylthio-N6-dimethylallyladenosine synthase, mt-tRNA-N6-(dimethylallyl)adenosine(37) methylthiotransferase,
• Gene location: 20q11.21 (33403029: 33358838)     Exons: 16     NC_000020.11
• Gene summary(Entrez): This gene encodes a regulator of cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor of cyclin-dependent k
• OMIM: 608200

Protein Summary

• Protein general information: Q96SZ6  
  • Name: Mitochondrial tRNA methylthiotransferase CDK5RAP1 (EC 2.8.4.3) (CDK5 activator binding protein C42) (CDK5 regulatory subunit associated protein 1) (mt tRNA 2 methylthio N6 dimethylallyladenosine synthase) (mt tRNA N6 (dimethylallyl)adenosine(37) methylthi
  • Length: 601  
  • Mass: 67689
  • Tissue specificity: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas (PubMed
• Sequence:

  MHPLQCVLQVQRSLGWGPLASVSWLSLRMCRAHSSLSSTMCPSPERQEDGARKDFSSRLAAGPTFQHFLKSASAP
  QEKLSSEVEDPPPYLMMDELLGRQRKVYLETYGCQMNVNDTEIAWSILQKSGYLRTSNLQEADVILLVTCSIREK
  AEQTIWNRLHQLKALKTRRPRSRVPLRIGILGCMAERLKEEILNREKMVDILAGPDAYRDLPRLLAVAESGQQAA
  NVLLSLDETYADVMPVQTSASATSAFVSIMRGCDNMCSYCIVPFTRGRERSRPIASILEEVKKLSEQVFLPPRPP
  KVLGLQGLKEVTLLGQNVNSFRDNSEVQFNSAVPTNLSRGFTTNYKTKQGGLRFAHLLDQVSRVDPEMRIRFTSP
  HPKDFPDEVLQLIHERDNICKQIHLPAQSGSSRVLEAMRRGYSREAYVELVHHIRESIPGVSLSSDFIAGFCGET
  EEDHVQTVSLLREVQYNMGFLFAYSMRQKTRAYHRLKDDVPEEVKLRRLEELITIFREEATKANQTSVGCTQLVL
  VEGLSKRSATDLCGRNDGNLKVIFPDAEMEDVNNPGLRVRAQPGDYVLVKITSASSQTLRGHVLCRTTLRDSSAY
  C

• Structural information:
  • Protein Domains: (100..22-)
    (/note="MTTase-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00780-)
    (515..59-)
    (/note="TRAM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00208"-)
  • Interpro: IPR006638  IPR005839  IPR020612  IPR013848  IPR038135   IPR006463  IPR007197  IPR023404  IPR002792  
  • Prosite: PS51449 PS01278 PS50926
  • STRING: ENSP00000217372
• Other Databases: GeneCards:  CDK5RAP1  Malacards:  CDK5RAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045736	negative regulation of cyclin-dependent protein serine/threonine kinase activity	TAS	biological process
GO:0045736	negative regulation of cyclin-dependent protein serine/threonine kinase activity	IBA	biological process
GO:0035597	N6-isopentenyladenosine methylthiotransferase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
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:0051536	iron-sulfur cluster binding	IEA	molecular function
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:0005739	mitochondrion	IEA	cellular component
GO:0035597	N6-isopentenyladenosine methylthiotransferase activity	IEA	molecular function
GO:0070900	mitochondrial tRNA modification	IEA	biological process
GO:0000079	regulation of cyclin-dependent protein serine/threonine kinase activity	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0045903	positive regulation of translational fidelity	IEA	biological process
GO:0070131	positive regulation of mitochondrial translation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0035600	tRNA methylthiolation	IEA	biological process
GO:0035600	tRNA methylthiolation	IEA	biological process
GO:0045736	negative regulation of cyclin-dependent protein serine/threonine kinase activity	IDA	biological process
GO:0045664	regulation of neuron differentiation	NAS	biological process
GO:0019901	protein kinase binding	NAS	molecular function
GO:0007420	brain development	NAS	biological process
GO:0005575	cellular_component	ND	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881