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

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: Predicted to enable carnitine O-palmitoyltransferase activity. Involved in regulation of postsynaptic membrane neurotransmitter receptor levels. Located in several cellular components, including dendrite; endoplasmic reticulum; and postsynapse. Is integral component of endoplasmic reticulum membrane. Part of AMPA glutamate receptor complex. Is active in glutamatergic synapse. 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, Apr 2022]
Expression: Broad expression in testis adult (RPKM 42.6), cortex adult (RPKM 27.5) and 17 other tissues See more
Orthologs: human all
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Genomic context

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_000073.7 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?

CPT1C is required for synaptic plasticity and oscillatory activity that supports motor, associative and non-associative learning.
Title: CPT1C is required for synaptic plasticity and oscillatory activity that supports motor, associative and non-associative learning.
Central Regulation of Brown Fat Thermogenesis in Response to Saturated or Unsaturated Long-Chain Fatty Acids.
Title: Central Regulation of Brown Fat Thermogenesis in Response to Saturated or Unsaturated Long-Chain Fatty Acids.
Carnitine palmitoyltransferase 1 (CPT1) alleviates oxidative stress and apoptosis of hippocampal neuron in response to beta-Amyloid peptide fragment Abeta25-35.
Title: Carnitine palmitoyltransferase 1 (CPT1) alleviates oxidative stress and apoptosis of hippocampal neuron in response to beta-Amyloid peptide fragment Aβ(25-35).
Carnitine palmitoyltransferase 1C negatively regulates the endocannabinoid hydrolase ABHD6 in mice, depending on nutritional status.
Title: Carnitine palmitoyltransferase 1C negatively regulates the endocannabinoid hydrolase ABHD6 in mice, depending on nutritional status.
Sensing of nutrients by CPT1C controls SAC1 activity to regulate AMPA receptor trafficking.
Title: Sensing of nutrients by CPT1C controls SAC1 activity to regulate AMPA receptor trafficking.
CPT1C is necessary for the activation of BAT thermogenesis driven by leptin, HF diet exposure, and AMPK inhibition within the VMH.
Title: CPT1C in the ventromedial nucleus of the hypothalamus is necessary for brown fat thermogenesis activation in obesity.
CPT1C in the mediobasal hypothalamus is necessary for proper hypothalamic sensing of a negative energy balance and fuel partitioning in liver and muscle.
Title: Hypothalamic Regulation of Liver and Muscle Nutrient Partitioning by Brain-Specific Carnitine Palmitoyltransferase 1C in Male Mice.
data newly identify CPT1C as a regulator of AMPAR translation efficiency and therefore also synaptic function in the hippocampus
Title: Novel Regulation of the Synthesis of α-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid (AMPA) Receptor Subunit GluA1 by Carnitine Palmitoyltransferase 1C (CPT1C) in the Hippocampus.
Results indicate that altered ceramide metabolism in motor brain areas induced by Cpt1c deficiency causes progressive motor dysfunction from a young age
Title: Carnitine palmitoyltransferase 1C deficiency causes motor impairment and hypoactivity.
The expression of CPT1C is induced by metabolic stress factors such as hypoxia and glucose deprivation in a p53 and AMP activated kinase-dependent manner.
Title: Depletion of the novel p53-target gene carnitine palmitoyltransferase 1C delays tumor growth in the neurofibromatosis type I tumor model.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Variation

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Alleles

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

Endonuclease-mediated (1)
Gene trapped (1)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7Dcr15 (e-PCR), detects polymorphism
- UniSTS:507771

Cpt1c (e-PCR), detects polymorphism
- UniSTS:527294

Cpt1c (e-PCR), detects polymorphism
- UniSTS:506815

RH139577 (e-PCR)
- UniSTS:221662

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acyltransferase activity	IEA Inferred from Electronic Annotation more info
enables carnitine O-palmitoyltransferase activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation 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
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 fatty acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	IEP Inferred from Expression Pattern more info	PubMed
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	IMP Inferred from Mutant Phenotype more info	PubMed

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 cell projection	IEA Inferred from Electronic Annotation more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
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 membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	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
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: palmitoyl thioesterase CPT1C

Names: carnitine palmitoyltransferase 1, brain; carnitine palmitoyltransferase I

NP_001239399.1

EC 3.1.2.22

NP_001344599.1

EC 3.1.2.22

NP_710146.1

EC 3.1.2.22

XP_011249219.1

EC 3.1.2.22

XP_011249220.1

EC 3.1.2.22

XP_036009459.1

EC 3.1.2.22

XP_036009460.1

EC 3.1.2.22

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_001252470.1 → NP_001239399.1 palmitoyl thioesterase CPT1C isoform 1

See identical proteins and their annotated locations for NP_001239399.1

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:171 → 756

Carn_acyltransf; Choline/Carnitine o-acyltransferase

pfam16484
Location:1 → 46

CPT_N; Carnitine O-palmitoyltransferase N-terminus
NM_001357670.1 → NP_001344599.1 palmitoyl thioesterase CPT1C isoform 2

Status: VALIDATED

Source sequence(s)

AC155806

Conserved Domains (2) summary

pfam00755
Location:171 → 754

Carn_acyltransf; Choline/Carnitine o-acyltransferase

pfam16484
Location:1 → 46

CPT_N; Carnitine O-palmitoyltransferase N-terminus
NM_153679.2 → NP_710146.1 palmitoyl thioesterase CPT1C isoform 1

See identical proteins and their annotated locations for NP_710146.1

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:171 → 756

Carn_acyltransf; Choline/Carnitine o-acyltransferase

pfam16484
Location:1 → 46

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_000073.7 Reference GRCm39 C57BL/6J

Range

44607907..44624304 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

pfam00755
Location:2 → 369

Carn_acyltransf; Choline/Carnitine o-acyltransferase
XM_036153567.1 → XP_036009460.1 palmitoyl thioesterase CPT1C isoform X3

Conserved Domains (1) summary

pfam00755
Location:2 → 369

Carn_acyltransf; Choline/Carnitine o-acyltransferase
XM_011250918.2 → XP_011249220.1 palmitoyl thioesterase CPT1C isoform X2

Conserved Domains (1) summary

pfam00755
Location:1 → 502

Carn_acyltransf; Choline/Carnitine o-acyltransferase
XM_011250917.2 → XP_011249219.1 palmitoyl thioesterase CPT1C isoform X1

Conserved Domains (1) summary

pfam00755
Location:10 → 503

Carn_acyltransf; Choline/Carnitine o-acyltransferase