CDK5RAP1 (CDK5 regulatory subunit associated protein 1)

2007-04-01  

Identity

HGNC
LOCATION
20q11.21
LOCUSID
ALIAS
C20orf34,C42,CGI-05,HSPC167
FUSION GENES

Other Information

Locus ID:

NCBI: 51654
MIM: 608200
HGNC: 15880
Ensembl: ENSG00000101391

Variants:

dbSNP: 51654
ClinVar: 51654
TCGA: ENSG00000101391
COSMIC: CDK5RAP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101391ENST00000339269Q96SZ6
ENSG00000101391ENST00000339269A0A0S2Z592
ENSG00000101391ENST00000346416Q96SZ6
ENSG00000101391ENST00000346416A0A0S2Z5J9
ENSG00000101391ENST00000357886Q96SZ6
ENSG00000101391ENST00000427097H0Y721
ENSG00000101391ENST00000473997Q96SZ6

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
257384582015Cdk5rap1-mediated 2-methylthio modification of mitochondrial tRNAs governs protein translation and contributes to myopathy in mice and humans.26
224228382012The CDK5 repressor CDK5RAP1 is a methylthiotransferase acting on nuclear and mitochondrial RNA.23
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.16
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
256078312015CDK5RAP1 deficiency induces cell cycle arrest and apoptosis in human breast cancer cell line by the ROS/JNK signaling pathway.5
289817542017Cdk5rap1-mediated 2-methylthio-N6-isopentenyladenosine modification is absent from nuclear-derived RNA species.3
225343662012Association between CDK5RAP1 polymorphisms and susceptibility to vitiligo in the Korean population.2

Citation

Dessen P

CDK5RAP1 (CDK5 regulatory subunit associated protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46788/cdk5rap1