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    Cpt1a carnitine palmitoyltransferase 1a, liver [ Mus musculus (house mouse) ]

    Gene ID: 12894, updated on 21-Apr-2024

    Summary

    Official Symbol
    Cpt1aprovided by MGI
    Official Full Name
    carnitine palmitoyltransferase 1a, liverprovided by MGI
    Primary source
    MGI:MGI:1098296
    See related
    Ensembl:ENSMUSG00000024900 AllianceGenome:MGI:1098296
    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
    CPTI; Cpt1; C730027G07
    Summary
    Enables carnitine O-palmitoyltransferase activity and palmitoleoyltransferase activity. Predicted to be involved in several processes, including carnitine metabolic process; positive regulation of fatty acid beta-oxidation; and regulation of insulin secretion. Predicted to act upstream of or within lipid metabolic process. Located in mitochondrial inner membrane. Is expressed in several structures, including alimentary system; central nervous system; integumental system; sensory organ; and urinary system. Used to study carnitine palmitoyltransferase I deficiency. Human ortholog(s) of this gene implicated in carnitine palmitoyltransferase I deficiency and lipid metabolism disorder. Orthologous to human CPT1A (carnitine palmitoyltransferase 1A). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in kidney adult (RPKM 56.8), adrenal adult (RPKM 53.2) and 26 other tissues See more
    Orthologs
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    Genomic context

    Location:
    19 A; 19 3.08 cM
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (3372328..3435735)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (3322326..3385735)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene immunoglobulin mu DNA binding protein 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:3282897-3283006 Neighboring gene mitochondrial ribosomal protein L21 Neighboring gene microRNA 6984 Neighboring gene STARR-seq mESC enhancer starr_45314 Neighboring gene testis expressed metallothionein like Neighboring gene galanin and GMAP prepropeptide

    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)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables acyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables carnitine O-palmitoyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables carnitine O-palmitoyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables carnitine O-palmitoyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables palmitoleoyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in carnitine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in carnitine metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in eating behavior ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in fatty acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in fatty acid metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in glucose metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in long-chain fatty acid metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of fatty acid beta-oxidation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of fatty acid oxidation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of insulin secretion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in triglyceride metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial inner membrane HDA PubMed 
    located_in mitochondrial outer membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    carnitine O-palmitoyltransferase 1, liver isoform
    Names
    CPT I
    CPT1-L
    CPTI-L
    L-CPT I
    carnitine palmitoyltransferase 1, liver
    NP_038523.2
    XP_006531717.1
    XP_006531721.1
    XP_006531722.1
    XP_011246904.1
    XP_036017309.1
    XP_036017310.1

    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_013495.2NP_038523.2  carnitine O-palmitoyltransferase 1, liver isoform

      See identical proteins and their annotated locations for NP_038523.2

      Status: VALIDATED

      Source sequence(s)
      AK147770, BC054791, CJ081259
      Consensus CDS
      CCDS29395.1
      UniProtKB/Swiss-Prot
      O35288, P97742, Q80SW3, Q8BP98, Q8C7H8
      UniProtKB/TrEMBL
      Q3UGT1, Q7TQD5
      Related
      ENSMUSP00000025835.5, ENSMUST00000025835.6
      Conserved Domains (2) summary
      pfam00755
      Location:171761
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:147
      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_000085.7 Reference GRCm39 C57BL/6J

      Range
      3372328..3435735
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011248602.4XP_011246904.1  carnitine O-palmitoyltransferase 1, liver isoform isoform X2

      UniProtKB/TrEMBL
      Q3UGT1
      Conserved Domains (2) summary
      pfam16484
      Location:2671
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
      pfam00755
      Location:196786
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
    2. XM_036161416.1XP_036017309.1  carnitine O-palmitoyltransferase 1, liver isoform isoform X1

      UniProtKB/Swiss-Prot
      O35288, P97742, Q80SW3, Q8BP98, Q8C7H8
      UniProtKB/TrEMBL
      Q3UGT1, Q7TQD5
      Conserved Domains (2) summary
      pfam00755
      Location:171761
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:147
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    3. XM_006531654.4XP_006531717.1  carnitine O-palmitoyltransferase 1, liver isoform isoform X1

      See identical proteins and their annotated locations for XP_006531717.1

      UniProtKB/Swiss-Prot
      O35288, P97742, Q80SW3, Q8BP98, Q8C7H8
      UniProtKB/TrEMBL
      Q3UGT1, Q7TQD5
      Conserved Domains (2) summary
      pfam00755
      Location:171761
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:147
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    4. XM_006531659.2XP_006531722.1  carnitine O-palmitoyltransferase 1, liver isoform isoform X1

      See identical proteins and their annotated locations for XP_006531722.1

      UniProtKB/Swiss-Prot
      O35288, P97742, Q80SW3, Q8BP98, Q8C7H8
      UniProtKB/TrEMBL
      Q3UGT1, Q7TQD5
      Conserved Domains (2) summary
      pfam00755
      Location:171761
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:147
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    5. XM_036161417.1XP_036017310.1  carnitine O-palmitoyltransferase 1, liver isoform isoform X3

      UniProtKB/TrEMBL
      Q3UGT1
      Conserved Domains (2) summary
      pfam00755
      Location:171628
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:147
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    6. XM_006531658.5XP_006531721.1  carnitine O-palmitoyltransferase 1, liver isoform isoform X1

      See identical proteins and their annotated locations for XP_006531721.1

      UniProtKB/Swiss-Prot
      O35288, P97742, Q80SW3, Q8BP98, Q8C7H8
      UniProtKB/TrEMBL
      Q3UGT1, Q7TQD5
      Conserved Domains (2) summary
      pfam00755
      Location:171761
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:147
      CPT_N; Carnitine O-palmitoyltransferase N-terminus