CDK5RAP1 - CDK5 regulatory subunit associated protein 1 Gene

Homo sapiens

Also known as C42; CGI-05; HSPC167; C20orf34

Gene ID: 51654 | Gene type: protein coding

About CDK5RAP1

Cytogenetic location: 20q11.21 Genomic coordinates (GRCh38): 20:33,358,839-33,401,569 (from NCBI)

This gene has 16 transcripts (splice variants), 144 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 5.1), bone marrow (RPKM 5.0) and 25 other tissues.

Summary

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 kinase 5 activity. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]

CDK5RAP1 Products(6)

mRNA	Protein	Name
NM_001278167.2	NP_001265096.1	mitochondrial tRNA methylthiotransferase CDK5RAP1 isoform c
NM_001278168.2	NP_001265097.1	mitochondrial tRNA methylthiotransferase CDK5RAP1 isoform d
NM_001278169.1	NP_001265098.1	mitochondrial tRNA methylthiotransferase CDK5RAP1 isoform e
NM_001365728.1	NP_001352657.1	mitochondrial tRNA methylthiotransferase CDK5RAP1 isoform f
NM_016082.4	NP_057166.4	mitochondrial tRNA methylthiotransferase CDK5RAP1 isoform b
NM_016408.4	NP_057492.2	mitochondrial tRNA methylthiotransferase CDK5RAP1 isoform a

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of cyclin-dependent protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	11882646	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CDK5RAP1 Protein Structure

UPF0004

Radical_SAM

TRAM

0
100
200
300
400
500
601 a.a.

Protein Preferred Names

Protein Names

mitochondrial tRNA methylthiotransferase CDK5RAP1

CDK5 activator-binding protein C42

Related Diseases

Diseases

Alias

Inflammatory Bowel Disease 24

IBD24

Inflammatory Bowel Disease 17

Inflammatory Bowel Disease 17, Protection Against	IBD17
Bowel Disease, Inflammatory, Type 17

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome	MELAS
Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes	Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02389	CDK5RAP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CDK5RAP1	VGNC	VGNC:39057
Macaca mulatta	CDK5RAP1	VGNC	VGNC:70954
Bos taurus	CDK5RAP1	VGNC	VGNC:27130
Mus musculus	CDK5RAP1	MGD	MGI:1914221
Rattus norvegicus	CDK5RAP1	RGD	RGD:708387
Felis catus	CDK5RAP1	VGNC	VGNC:60702

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