CDK5RAP1 - CDK5 regulatory subunit associated protein 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51654

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 References 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

UPF0004: Uncharacterized protein family UPF0004 (101 - 204)

Radical_SAM

Radical_SAM: Radical SAM superfamily (252 - 461)

TRAM

TRAM: TRAM domain (517 - 589)

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  • 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

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 Set / 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
Others CDK5RAP1 NCBI