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

    Gene ID: 66971, updated on 14-Nov-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; submandibular gland primordium; and trigeminal ganglion. Orthologous to human CDK5RAP1 (CDK5 regulatory subunit associated protein 1). [provided by Alliance of Genome Resources, Nov 2024]
    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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    See Cdk5rap1 in Genome Data Viewer
    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 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. Mitochondrial alterations in the cochlea of Cdk5rap1-knockout mice with age-related hearing loss. Miwa T, et al. FEBS Open Bio, 2023 Jul. PMID 37258461, Free PMC Article
    3. 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
    4. 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
    5. 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

    See all (22) 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)
    • Endonuclease-mediated (1) 
    • Targeted (2)  1 citation

    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 metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial tRNA modification IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of cyclin-dependent protein serine/threonine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    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 
    involved_in regulation of cyclin-dependent protein serine/threonine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in tRNA methylthiolation 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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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