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Cdk5rap1 CDK5 regulatory subunit associated protein 1 [ Mus musculus (house mouse) ]

Gene ID: 66971, updated on 21-Apr-2024

Summary

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Official Symbol
Cdk5rap1provided by MGI
Official Full Name
CDK5 regulatory subunit associated protein 1provided by MGI
Primary source
MGI:MGI:1914221
See related
Ensembl:ENSMUSG00000027487 AllianceGenome:MGI:1914221
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
2310066P17Rik
Summary
Enables N6-isopentenyladenosine methylthiotransferase activity. Acts upstream of or within mitochondrial tRNA modification; positive regulation of mitochondrial translation; and positive regulation of translational fidelity. Located in mitochondrion. Is expressed in several structures, including adenohypophysis; alimentary system; nose; trigeminal ganglion; and vibrissa. Orthologous to human CDK5RAP1 (CDK5 regulatory subunit associated protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in placenta adult (RPKM 4.2), bladder adult (RPKM 3.7) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
2 H1; 2 76.46 cM
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (154063931..154216170, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (154222011..154373038, complement)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_06112 Neighboring gene BPI fold containing family A, member 5 Neighboring gene BPI fold containing family B, member 1 Neighboring gene STARR-seq mESC enhancer starr_06113 Neighboring gene STARR-seq mESC enhancer starr_06114 Neighboring gene BPI fold containing family B, member 5 Neighboring gene BPI fold containing family B, member 9A Neighboring gene zinc finger protein 54-like Neighboring gene BPI fold containing family B, member 9B Neighboring gene syntrophin, acidic 1 Neighboring gene STARR-positive B cell enhancer mm9_chr2:154233698-154233998 Neighboring gene STARR-seq mESC enhancer starr_06119 Neighboring gene VISTA enhancer mm1461 Neighboring gene predicted gene, 39962

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Cdk5 regulatory subunit-associated protein 1 knockout mice show hearing loss phenotypically similar to age-related hearing loss. Miwa T, et al. Mol Brain, 2021 May 17. PMID 34001214, Free PMC Article
  2. Cdk5rap1-mediated 2-methylthio modification of mitochondrial tRNAs governs protein translation and contributes to myopathy in mice and humans. Wei FY, et al. Cell Metab, 2015 Mar 3. PMID 25738458
  3. Neddylation mediates ventricular chamber maturation through repression of Hippo signaling. Zou J, et al. Proc Natl Acad Sci U S A, 2018 Apr 24. PMID 29632206, Free PMC Article
  4. Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module. Koss M, et al. Dev Cell, 2012 May 15. PMID 22560297, Free PMC Article
  5. Mutagenesis of diploid mammalian genes by gene entrapment. Lin Q, et al. Nucleic Acids Res, 2006. PMID 17062627, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mitochondrial alterations in the cochlea of Cdk5rap1-knockout mice with age-related hearing loss.
    Title: Mitochondrial alterations in the cochlea of Cdk5rap1-knockout mice with age-related hearing loss.
  2. Cdk5 regulatory subunit-associated protein 1 knockout mice show hearing loss phenotypically similar to age-related hearing loss.
    Title: Cdk5 regulatory subunit-associated protein 1 knockout mice show hearing loss phenotypically similar to age-related hearing loss.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (1) 

General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
  
enables N6-isopentenyladenosine methylthiotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables N6-isopentenyladenosine methylthiotransferase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
  
enables iron-sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables methylthiotransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
  
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within mitochondrial tRNA modification IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of cyclin-dependent protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of cyclin-dependent protein serine/threonine kinase activity ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within positive regulation of mitochondrial translation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of translational fidelity IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within tRNA methylthiolation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in tRNA modification IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within tRNA processing IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
mitochondrial tRNA methylthiotransferase CDK5RAP1
Names
CDK5 activator-binding protein C42
mt-tRNA-2-methylthio-N6-dimethylallyladenosine synthase
mt-tRNA-N6-(dimethylallyl)adenosine(37) methylthiotransferase
NP_080152.1
XP_036018399.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_025876.2 → NP_080152.1  mitochondrial tRNA methylthiotransferase CDK5RAP1

    See identical proteins and their annotated locations for NP_080152.1

    Status: PROVISIONAL

    Source sequence(s)
    AL732601, AL928894
    Consensus CDS
    CCDS16931.1
    UniProtKB/Swiss-Prot
    Q8BTW8, Q9D6Q4
    Related
    ENSMUSP00000028990.4, ENSMUST00000028990.10
    Conserved Domains (3) summary
    PRK14329
    Location:87 → 573
    PRK14329; (dimethylallyl)adenosine tRNA methylthiotransferase; Provisional
    pfam00919
    Location:100 → 203
    UPF0004; Uncharacterized protein family UPF0004
    cl01282
    Location:500 → 574
    TRAM; TRAM domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    154063931..154216170 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036162506.1 → XP_036018399.1  mitochondrial tRNA methylthiotransferase CDK5RAP1 isoform X1

    Conserved Domains (1) summary
    PRK14329
    Location:1 → 320
    PRK14329; (dimethylallyl)adenosine tRNA methylthiotransferase; Provisional

RNA

  1. XR_003953696.2 RNA Sequence

  2. XR_001783167.3 RNA Sequence

  3. XR_001783168.3 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BTW8.2 GenPept UniProtKB/Swiss-Prot:Q8BTW8

Gene LinkOut

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