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

Gene ID: 12894, updated on 1-Mar-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

See Cpt1a in Genome Data Viewer
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
 
acts_upstream_of_or_within fatty acid metabolic process IEA
Inferred from Electronic Annotation
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)

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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_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