CDK5RAP1 (CDK5 regulatory subunit associated protein 1)

2007-04-01  

Identity

HGNC
CDK5RAP1
LOCATION
20q11.21
LOCUSID
51654
ALIAS
C20orf34,C42,CGI-05,HSPC167
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
289817542017Cdk5rap1-mediated 2-methylthio-N6-isopentenyladenosine modification is absent from nuclear-derived RNA species.9
289817542017Cdk5rap1-mediated 2-methylthio-N6-isopentenyladenosine modification is absent from nuclear-derived RNA species.9
256078312015CDK5RAP1 deficiency induces cell cycle arrest and apoptosis in human breast cancer cell line by the ROS/JNK signaling pathway.13
257384582015Cdk5rap1-mediated 2-methylthio modification of mitochondrial tRNAs governs protein translation and contributes to myopathy in mice and humans.62
256078312015CDK5RAP1 deficiency induces cell cycle arrest and apoptosis in human breast cancer cell line by the ROS/JNK signaling pathway.13
257384582015Cdk5rap1-mediated 2-methylthio modification of mitochondrial tRNAs governs protein translation and contributes to myopathy in mice and humans.62
224228382012The CDK5 repressor CDK5RAP1 is a methylthiotransferase acting on nuclear and mitochondrial RNA.39
225343662012Association between CDK5RAP1 polymorphisms and susceptibility to vitiligo in the Korean population.4
224228382012The CDK5 repressor CDK5RAP1 is a methylthiotransferase acting on nuclear and mitochondrial RNA.39
225343662012Association between CDK5RAP1 polymorphisms and susceptibility to vitiligo in the Korean population.4
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.19
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.19
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105

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