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    Cpt1c carnitine palmitoyltransferase 1c [ Mus musculus (house mouse) ]

    Gene ID: 78070, updated on 27-Nov-2024

    Summary

    Official Symbol
    Cpt1cprovided by MGI
    Official Full Name
    carnitine palmitoyltransferase 1cprovided by MGI
    Primary source
    MGI:MGI:2446526
    See related
    Ensembl:ENSMUSG00000007783 AllianceGenome:MGI:2446526
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    CPT IC; CPT1-B; CPTI-B; CPT I-C; 6530437J22Rik; 9630004I06Rik
    Summary
    Enables palmitoyl-(protein) hydrolase activity. Involved in regulation of postsynaptic membrane neurotransmitter receptor levels. Located in axon; dendrite; and endoplasmic reticulum. Part of AMPA glutamate receptor complex. Is active in endoplasmic reticulum membrane; glutamatergic synapse; and postsynapse. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 73. Orthologous to human CPT1C (carnitine palmitoyltransferase 1C). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis adult (RPKM 42.6), cortex adult (RPKM 27.5) and 17 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Cpt1c in Genome Data Viewer
    Location:
    7 B3; 7 29.07 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (44607907..44624304, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (44958483..44974880, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene fuzzy planar cell polarity protein Neighboring gene adaptor-related protein complex 2, alpha 1 subunit Neighboring gene STARR-positive B cell enhancer ABC_E88 Neighboring gene testis-specific serine kinase substrate Neighboring gene STARR-seq mESC enhancer starr_18822 Neighboring gene protein arginine N-methyltransferase 1 Neighboring gene predicted gene 15545 Neighboring gene BCL2 like 12

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 
    • Targeted (5)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC101932

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables carnitine O-palmitoyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    NOT enables carnitine O-palmitoyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables palmitoyl-(protein) hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables palmitoyl-(protein) hydrolase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    part_of AMPA glutamate receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendritic spine IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endoplasmic reticulum membrane IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    is_active_in endoplasmic reticulum membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in mitochondrion HDA PubMed 
    NOT located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in postsynapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in postsynapse IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    is_active_in postsynapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    palmitoyl thioesterase CPT1C
    Names
    carnitine palmitoyltransferase 1, brain
    carnitine palmitoyltransferase I
    NP_001239399.1
    NP_001344599.1
    NP_710146.1
    XP_011249219.1
    XP_011249220.1
    XP_036009459.1
    XP_036009460.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001252470.1NP_001239399.1  palmitoyl thioesterase CPT1C isoform 1

      Status: VALIDATED

      Source sequence(s)
      AK035790, BU758114, CN842042
      Consensus CDS
      CCDS21221.1
      UniProtKB/Swiss-Prot
      Q6NZF8, Q8BGD5, Q8C071
      Related
      ENSMUSP00000148815.2, ENSMUST00000212836.2
      Conserved Domains (2) summary
      pfam00755
      Location:171756
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:146
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    2. NM_001357670.1NP_001344599.1  palmitoyl thioesterase CPT1C isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC155806
      Conserved Domains (2) summary
      pfam00755
      Location:171754
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:146
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    3. NM_153679.2NP_710146.1  palmitoyl thioesterase CPT1C isoform 1

      Status: VALIDATED

      Source sequence(s)
      AK035790, BU758114, CN842042
      Consensus CDS
      CCDS21221.1
      UniProtKB/Swiss-Prot
      Q6NZF8, Q8BGD5, Q8C071
      Related
      ENSMUSP00000069539.8, ENSMUST00000063761.8
      Conserved Domains (2) summary
      pfam00755
      Location:171756
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:146
      CPT_N; Carnitine O-palmitoyltransferase N-terminus

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      44607907..44624304 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036153566.1XP_036009459.1  palmitoyl thioesterase CPT1C isoform X3

      Conserved Domains (1) summary
      pfam00755
      Location:2369
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
    2. XM_036153567.1XP_036009460.1  palmitoyl thioesterase CPT1C isoform X3

      Conserved Domains (1) summary
      pfam00755
      Location:2369
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
    3. XM_011250918.2XP_011249220.1  palmitoyl thioesterase CPT1C isoform X2

      Conserved Domains (1) summary
      pfam00755
      Location:1502
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
    4. XM_011250917.2XP_011249219.1  palmitoyl thioesterase CPT1C isoform X1

      Conserved Domains (1) summary
      pfam00755
      Location:10503
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    RNA

    1. XR_882039.4 RNA Sequence

    2. XR_882038.3 RNA Sequence

    3. XR_882037.3 RNA Sequence

    4. XR_001778010.2 RNA Sequence

    5. XR_001778016.2 RNA Sequence

    6. XR_004934219.1 RNA Sequence

    7. XR_001778014.2 RNA Sequence

    8. XR_001778015.2 RNA Sequence

    9. XR_003946599.2 RNA Sequence

    10. XR_004934218.1 RNA Sequence

    11. XR_001778011.2 RNA Sequence

    12. XR_001778012.2 RNA Sequence

    13. XR_001778013.2 RNA Sequence

    14. XR_003946598.2 RNA Sequence