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

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. Predicted to be involved in several processes, including positive regulation of fatty acid beta-oxidation; regulation of insulin secretion; and triglyceride 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, Nov 2024]
Expression: Broad expression in kidney adult (RPKM 56.8), adrenal adult (RPKM 53.2) and 26 other tissues See more
Orthologs: human all
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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_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Overexpression of CPT1A disrupts the maintenance and regenerative function of muscle stem cells.
Title: Overexpression of CPT1A disrupts the maintenance and regenerative function of muscle stem cells.
CPT1A-IL-10-mediated macrophage metabolic and phenotypic alterations ameliorate acute lung injury.
Title: CPT1A-IL-10-mediated macrophage metabolic and phenotypic alterations ameliorate acute lung injury.
Augmenter of liver regeneration knockout aggravates tubular ferroptosis and macrophage activation by regulating carnitine palmitoyltransferase-1A-induced lipid metabolism in diabetic nephropathy.
Title: Augmenter of liver regeneration knockout aggravates tubular ferroptosis and macrophage activation by regulating carnitine palmitoyltransferase-1A-induced lipid metabolism in diabetic nephropathy.
Inhibition of Crif1 protects fatty acid-induced POMC neuron-like cell-line damage by increasing CPT-1 function.
Title: Inhibition of Crif1 protects fatty acid-induced POMC neuron-like cell-line damage by increasing CPT-1 function.
CPT1A Protects Podocytes From Lipotoxicity and Apoptosis In Vitro and Alleviates Diabetic Nephropathy In Vivo.
Title: CPT1A Protects Podocytes From Lipotoxicity and Apoptosis In Vitro and Alleviates Diabetic Nephropathy In Vivo.
Tubular CPT1A deletion minimally affects aging and chronic kidney injury.
Title: Tubular CPT1A deletion minimally affects aging and chronic kidney injury.
ACACA reduces lipid accumulation through dual regulation of lipid metabolism and mitochondrial function via AMPK- PPARalpha- CPT1A axis.
Title: ACACA reduces lipid accumulation through dual regulation of lipid metabolism and mitochondrial function via AMPK- PPARα- CPT1A axis.
Cpt1a silencing in AgRP neurons improves cognitive and physical capacity and promotes healthy aging in male mice.
Title: Cpt1a silencing in AgRP neurons improves cognitive and physical capacity and promotes healthy aging in male mice.
CPT1A as a potential therapeutic target for lipopolysaccharide-induced acute lung injury in mice.
Title: CPT1A as a potential therapeutic target for lipopolysaccharide-induced acute lung injury in mice.
Acidosis attenuates CPT-I-supported bioenergetics as a potential mechanism limiting lipid oxidation.
Title: Acidosis attenuates CPT-I-supported bioenergetics as a potential mechanism limiting lipid oxidation.

Submit: New GeneRIF Correction See all GeneRIFs (43)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4) 1 citation
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AA960192 (e-PCR)
- UniSTS:160772

RH124976 (e-PCR)
- UniSTS:161798

RH128242 (e-PCR)
- UniSTS:211550

Cpt1a (e-PCR), detects polymorphism
- UniSTS:506814

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables carnitine O-palmitoyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables carnitine O-palmitoyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
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 carnitine O-palmitoyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IEA Inferred from Electronic Annotation more info
enables protein-macromolecule adaptor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in aflatoxin metabolic process	IEA Inferred from Electronic Annotation more info
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 carnitine metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to fatty acid	IEA Inferred from Electronic Annotation more info
involved_in eating behavior	IEA Inferred from Electronic Annotation more info
involved_in eating behavior	ISO Inferred from Sequence Orthology more info
involved_in epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in fatty acid beta-oxidation	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
involved_in glucose metabolic process	ISO Inferred from Sequence Orthology more info
involved_in liver regeneration	IEA Inferred from Electronic Annotation more info
involved_in long-chain fatty acid metabolic process	ISO Inferred from Sequence Orthology more info
involved_in long-chain fatty acid metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of fatty acid beta-oxidation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of fatty acid beta-oxidation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of innate immune response	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of innate immune response	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	IEA Inferred from Electronic Annotation more info
involved_in regulation of insulin secretion	ISO Inferred from Sequence Orthology more info
involved_in regulation of lipid storage	IEA Inferred from Electronic Annotation more info
involved_in response to alkaloid	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient	IEA Inferred from Electronic Annotation more info
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in response to tetrachloromethane	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in triglyceride metabolic process	IEA Inferred from Electronic Annotation more info
involved_in triglyceride metabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	HDA more info	PubMed
located_in mitochondrial outer membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial outer membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HDA more info	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

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Preferred Names: carnitine O-palmitoyltransferase 1, liver isoform

Names: CPT I; CPT1-L; CPTI-L; L-CPT I; carnitine palmitoyltransferase 1, liver; succinyltransferase CPT1A

NP_038523.2

EC 2.3.1.21

XP_006531717.1

EC 2.3.1.21

XP_006531721.1

EC 2.3.1.21

XP_006531722.1

EC 2.3.1.21

XP_011246904.1

EC 2.3.1.21

XP_036017309.1

EC 2.3.1.21

XP_036017310.1

EC 2.3.1.21

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)

NM_013495.2 → NP_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:171 → 761

Carn_acyltransf; Choline/Carnitine o-acyltransferase

pfam16484
Location:1 → 47

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

NC_000085.7 Reference GRCm39 C57BL/6J

Range

3372328..3435735

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q3UGT1

Conserved Domains (2) summary

pfam16484
Location:26 → 71

CPT_N; Carnitine O-palmitoyltransferase N-terminus

pfam00755
Location:196 → 786

Carn_acyltransf; Choline/Carnitine o-acyltransferase
XM_036161416.1 → XP_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:171 → 761

Carn_acyltransf; Choline/Carnitine o-acyltransferase

pfam16484
Location:1 → 47

CPT_N; Carnitine O-palmitoyltransferase N-terminus
XM_006531654.4 → XP_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:171 → 761

Carn_acyltransf; Choline/Carnitine o-acyltransferase

pfam16484
Location:1 → 47

CPT_N; Carnitine O-palmitoyltransferase N-terminus
XM_006531659.2 → XP_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:171 → 761

Carn_acyltransf; Choline/Carnitine o-acyltransferase

pfam16484
Location:1 → 47

CPT_N; Carnitine O-palmitoyltransferase N-terminus
XM_036161417.1 → XP_036017310.1 carnitine O-palmitoyltransferase 1, liver isoform isoform X3

UniProtKB/TrEMBL

Q3UGT1

Conserved Domains (2) summary

pfam00755
Location:171 → 628

Carn_acyltransf; Choline/Carnitine o-acyltransferase

pfam16484
Location:1 → 47

CPT_N; Carnitine O-palmitoyltransferase N-terminus
XM_006531658.5 → XP_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:171 → 761

Carn_acyltransf; Choline/Carnitine o-acyltransferase

pfam16484
Location:1 → 47

CPT_N; Carnitine O-palmitoyltransferase N-terminus