Cpt1b carnitine palmitoyltransferase 1b, muscle [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cpt1bprovided by MGI
Official Full Name: carnitine palmitoyltransferase 1b, muscleprovided by MGI
Primary source: MGI:MGI:1098297
See related: Ensembl:ENSMUSG00000078937 AllianceGenome:MGI:1098297
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: Cpt1; Cpti; Cpt1-m; Cpti-m; M-cpti
Summary: Predicted to enable carnitine O-palmitoyltransferase activity. Involved in response to blue light. Located in mitochondrion. Is expressed in brown fat; cardiovascular system; early conceptus; and ovary. Orthologous to human CPT1B (carnitine palmitoyltransferase 1B). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in heart adult (RPKM 181.3), testis adult (RPKM 117.6) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 E3; 15 44.89 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (89300608..89310065, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (89416405..89425862, complement)

Chromosome 15 - NC_000081.7 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?

PHDs/CPT1B/VDAC1 axis regulates long-chain fatty acid oxidation in cardiomyocytes.
Title: PHDs/CPT1B/VDAC1 axis regulates long-chain fatty acid oxidation in cardiomyocytes.
Our results reveal that uc.323 is a conserved T-UCR that inhibits cardiac hypertrophy, potentially by regulating the transcription of CPT1b via interaction with EZH2.
Title: Transcribed Ultraconserved Regions, Uc.323, Ameliorates Cardiac Hypertrophy by Regulating the Transcription of CPT1b (Carnitine Palmitoyl transferase 1b).
Knock in mouse model expressing the CPT1BE3A mutant enzyme, which has reduced sensitivity to malonyl-CoA, demonstrates increased cardiac fatty acid oxidation.
Title: Increased cardiac fatty acid oxidation in a mouse model with decreased malonyl-CoA sensitivity of CPT1B.
Cpt1b role in the mitochondrial fat oxidation in the lipid induced inffalmation in skeletal muscle.
Title: Mitochondrial fat oxidation is essential for lipid-induced inflammation in skeletal muscle in mice.
Cardiac CPT-1b suppression protects against the aggravation of cardiac morphology and function associated with HFD feeding. CPT-1b represents a potential therapeutic target for the treatment of cardiac dysfunction related to metabolic diseases such as obesity and diabetes.
Title: Cardiac-specific down-regulation of carnitine palmitoyltransferase-1b (CPT-1b) prevents cardiac remodeling in obese mice.
Data show that peroxisome-proliferator-activated receptor beta/delta (PPARbeta/delta) activation restored the lipid-induced endothelial dysfunction by up-regulation of carnitine palmitoyltransferase)-1 (CPT-1).
Title: Carnitine palmitoyltransferase-1 up-regulation by PPAR-β/δ prevents lipid-induced endothelial dysfunction.
Data (including data from knockout and chimeric mice) suggest that Cpt1b is involved in myocardial function (but perhaps not in skeletal muscle function); knockout (and presumably inhibition) of Cpt1b results in cardiac hypertrophy and early death.
Title: Inhibition of carnitine palymitoyltransferase1b induces cardiac hypertrophy and mortality in mice.
CPT1b deficiency can cause lipotoxicity in the heart under pathological stress, leading to exacerbation of cardiac pathology.
Title: Carnitine palmitoyltransferase-1b deficiency aggravates pressure overload-induced cardiac hypertrophy caused by lipotoxicity.
Data show that HIV protease inhibitors suppress fatty acid oxidation in skeletal muscle cells, which may be related to decreases in cytosolic- and mitochondrial-associated fatty acid transporters such as CD36 and carnitine palmitoyltransferase I .
Title: HIV-protease inhibitors suppress skeletal muscle fatty acid oxidation by reducing CD36 and CPT1 fatty acid transporters.
Leptin reduces the sensitivity of cardiac CPT-I to malonyl-CoA.
Title: Sensitivity of cardiac carnitine palmitoyltransferase to malonyl-CoA is regulated by leptin: similarities with a model of endogenous hyperleptinemia.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

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

Endonuclease-mediated (3)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_16689-16690:1017862088:1 (e-PCR)
- UniSTS:268074

Cpt1b (e-PCR), detects polymorphism
- UniSTS:461889

Cpt1b (e-PCR), detects polymorphism
- UniSTS:461890

Readthrough Gm44502

Readthrough gene: Gm44502, Included gene: Chkb

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	ISO Inferred from Sequence Orthology more info
enables carnitine O-palmitoyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables carnitine O-palmitoyltransferase activity	TAS Traceable Author Statement more info	PubMed

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 carnitine metabolic process	ISS Inferred from Sequence or Structural Similarity 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 fatty acid metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in long-chain fatty acid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in long-chain fatty acid transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within long-chain fatty acid transport	TAS Traceable Author Statement more info	PubMed
involved_in response to blue light	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info	PubMed
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, muscle isoform

Names: muscle-type carnitine palmitoyltransferase I

NP_034078.2

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_009948.2 → NP_034078.2 carnitine O-palmitoyltransferase 1, muscle isoform

See identical proteins and their annotated locations for NP_034078.2

Status: VALIDATED

Source sequence(s)

AK029141, CJ092541, CJ238532

Consensus CDS

CCDS27749.1

UniProtKB/Swiss-Prot

O35287, Q924X2, Q9QYP4

UniProtKB/TrEMBL

Q3UIM5

Related

ENSMUSP00000104936.3, ENSMUST00000109313.9

Conserved Domains (2) summary

pfam00755
Location:173 → 761

Carn_acyltransf; Choline/Carnitine o-acyltransferase

pfam16484
Location:1 → 46

CPT_N; Carnitine O-palmitoyltransferase N-terminus