CPT1A carnitine palmitoyltransferase 1A (liver) [Homo sapiens] - Gene

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Summary

Official Symbol: CPT1Aprovided by HGNC
Official Full Name: carnitine palmitoyltransferase 1A (liver)provided by HGNC
Primary source: HGNC:2328
See related: Ensembl:ENSG00000110090; HPRD:02755; MIM:600528; Vega:OTTHUMG00000167892
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CPT1; CPT1-L; L-CPT1
Summary: The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 11q13.2

Sequence :: Chromosome: 11; NC_000011.9 (68522088..68609399, complement)

See CPT1A in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Our findings are consistent with the hypothesis that the L479 allele of the CPT1A P479L variant confers a selective advantage that is both cardioprotective (through increased HDL-cholesterol) and associated with reduced adiposity
Title: Genetic polymorphisms in carnitine palmitoyltransferase 1A gene are associated with variation in body composition and fasting lipid traits in Yup'ik Eskimos.
carrier frequency of the c.1364A>C mutation of cpt1a in Finland is far lower than that of the variants found in Alaskan, Canadian, and Greenland native populations.
Title: Carrier frequency of a common mutation of carnitine palmitoyltransferase 1A deficiency and long-term follow-up in Finland.
Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant.
Title: Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant.
an environment-dependent structural switch underlies the regulation of carnitine palmitoyltransferase 1A
Title: An environment-dependent structural switch underlies the regulation of carnitine palmitoyltransferase 1A.
significant correlation between strong expression of CPT1A protein and poor outcome of ESCC patients
Title: Genomic alterations with impact on survival in esophageal squamous cell carcinoma identified by array comparative genomic hybridization.
These studies identified a favourable role for CPT1A in adipocytes to attenuate fatty acid-evoked insulin resistance and inflammation via suppression of JNK.
Title: Carnitine palmitoyltransferase 1A prevents fatty acid-induced adipocyte dysfunction through suppression of c-Jun N-terminal kinase.
Data show PEPCK-C and CPT-1 mRNAs are more abundant in non-tumoral tissues than in the tumoral counterpart, whereas the opposite occurred for the FAS gene.
Title: Down-regulation of the phosphoenolpyruvate carboxykinase gene in human colon tumors and induction by omega-3 fatty acids.
allele frequency and rate of homozygosity for the CPT1A P479L variant were high in Inuit and Inuvialuit who reside in northern coastal regions of Canada.
Title: Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut.
The CPT1A c.1436C-->T variant is prevalent among some Alaska Native peoples, but newborn screening using current MS/MS cutoffs is not an effective means to identify homozygous infants
Title: Prevalence and distribution of the c.1436C→T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infants.
Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
Title: Prevalence and distribution of the c.1436C→T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infants.

Submit: New GeneRIF Correction See all (31)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

CPT deficiency, hepatic, type IA

MIM: 255120

Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a disorder of long-chain fatty acid oxidation. Clinical symptoms usually occur in an individual with a concurrent febrile or gastrointestinal illness when energy demands are increased; onset of symptoms is usually rapid. The three recognized phenotypes are hepatic encephalopathy, in which individuals (typically children) present with hypoketotic hypoglycemia and sudden onset of liver failure; adult-onset myopathy, seen in one individual of Inuit origin; and acute fatty liver of pregnancy, in which the fetus is homozygous for the CPT1A gene that causes CPT1A deficiency. Between episodes of hepatic encephalopathy, individuals appear developmentally and cognitively normal unless previous metabolic decompensation has resulted in neurologic damage.

Diagnosis Testing

Encephalopathy with hypoglycemia, absent or low levels of ketones, and elevated serum concentrations of liver transaminases, ammonia, and total carnitine are typical findings. In most affected individuals CPT I enzyme activity in cultured skin fibroblasts accounts for 1%-5% of control activity. Screening for CPT1A deficiency by detecting an elevated ratio of free-to-total carnitine in serum or plasma on a blood spot is available in some state newborn screening programs. Molecular genetic testing of CPT1A, the only gene associated with CPT1A deficiency, is clinically available.

Genetic Counseling

CPT1A deficiency is inherited in an autosomal recessive manner. Heterozygotes (carriers) are asymptomatic. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Pregnant female carriers may be at risk of developing acute fatty liver of pregnancy. Carrier testing for at-risk family members and prenatal diagnosis for pregnancies at increased risk are possible by biochemical testing if the enzyme defect has been confirmed in an affected family member or by molecular genetic testing if both disease-causing alleles have been identified in an affected family member.

References

PMID: 20301700

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HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 envelope glycoprotein (gp160) contains two palmitoylated cysteine residues C764 and C837; removal of both palmitoylation sites results in the formation of virus with low levels of gp160 incorporation, as well as a decrease in viral infectivity	PubMed

Go to the HIV-1, Human Protein Interaction Database

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Interactions

Products	Interactant	Other Gene	Source	Pubs	Description
P50416	P10415	BCL2	HPRD	PubMed
BioGRID:107765	BioGRID:107612	CLN3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107765	BioGRID:111136	PCK1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107765	BioGRID:112497	SUMO2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107765	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

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General gene information

Markers

D11S2921 (e-PCR)
- UniSTS:152074

D11S3357 (e-PCR)
- UniSTS:152599

WI-11974 (e-PCR)
- UniSTS:13100

PMC156606P2 (e-PCR)
- UniSTS:271409

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

D11S1183 (e-PCR)
- UniSTS:11855

L18426 (e-PCR)
- UniSTS:34648

RH79802 (e-PCR)
- UniSTS:88688

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-32786 (e-PCR)
- UniSTS:45532

D11S1033 (e-PCR)
- UniSTS:4061

GDB:631813 (e-PCR)
- UniSTS:158430

Genotypes

See CPT1A SNP Geneview Report
See CPT1A SNP Genotype Report
See CPT1A SNP Variation Viewer Report

Homology

Homologs of the CPT1A gene: The CPT1A gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and C.elegans.
Map Viewer (Mouse, Rat)

Pathways from BioSystems

AMPK signaling, organism-specific biosystem (from WikiPathways)
AMPK signaling, organism-specific biosystemAMPK signaling pathway, a fuel sensor and regulator, promotes ATP-producing and inhibits ATP-consuming pathways in various tissues. AMPK is a heterotrimer composed of alpha-catalytic and beta and gam...
Adipocytokine signaling pathway, organism-specific biosystem (from KEGG)
Adipocytokine signaling pathway, organism-specific biosystemIncreased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. Leptin is an important regulator of energy intake and...
Adipocytokine signaling pathway, conserved biosystem (from KEGG)
Adipocytokine signaling pathway, conserved biosystemIncreased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. Leptin is an important regulator of energy intake and...
Circadian Clock, organism-specific biosystem (from REACTOME)
Circadian Clock, organism-specific biosystemAt the center of the mammalian circadian clock is a negative transcription/translation-based feedback loop: The BMAL1:CLOCK/NPAS2 heterodimer transactivates CRY and PER genes by binding E-box element...
FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem (from Pathway Interaction Database)
FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem
FOXA2 and FOXA3 transcription factor networks
Fatty Acid Beta Oxidation, organism-specific biosystem (from WikiPathways)
Fatty Acid Beta Oxidation, organism-specific biosystemComplete fatty acid beta-oxidation pathway for saturated and unsaturated fatty acids, developed and curated internally by BiGCaT Bioinformatics. This pathway was previously split into three parts p...
Fatty acid metabolism, organism-specific biosystem (from KEGG)
Fatty acid metabolism, organism-specific biosystem
Fatty acid metabolism
Fatty acid metabolism, conserved biosystem (from KEGG)
Fatty acid metabolism, conserved biosystem
Fatty acid metabolism
Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
Import of palmitoyl-CoA into the mitochondrial matrix, organism-specific biosystem (from REACTOME)
Import of palmitoyl-CoA into the mitochondrial matrix, organism-specific biosystemThe mitochondrial carnitine system catalyzes the transport of long-chain fatty acids into the mitochondrial matrix where they undergo beta oxidation. This transport system consists of the malonyl-Co...
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
Mitochondrial LC-Fatty Acid Beta-Oxidation, organism-specific biosystem (from WikiPathways)
Mitochondrial LC-Fatty Acid Beta-Oxidation, organism-specific biosystem
Mitochondrial LC-Fatty Acid Beta-Oxidation
PPAR signaling pathway, organism-specific biosystem (from KEGG)
PPAR signaling pathway, organism-specific biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
PPAR signaling pathway, conserved biosystem (from KEGG)
PPAR signaling pathway, conserved biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
PPARA Activates Gene Expression, organism-specific biosystem (from REACTOME)
PPARA Activates Gene Expression, organism-specific biosystemThe set of genes regulated by PPAR-alpha is not fully known in humans, however many examples have been found in mice. Genes directly activated by PPAR-alpha contain peroxisome proliferator receptor e...
RORA Activates Circadian Expression, organism-specific biosystem (from REACTOME)
RORA Activates Circadian Expression, organism-specific biosystemAs inferred from mouse, RORA binds ROR elements (ROREs) in DNA and recruits the coactivators PPARGC1A (PGC-1alpha) and p300 (EP300, a histone acetylase) to activate transcription.
Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystem (from REACTOME)
Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystemPeroxisome proliferator-activated receptor alpha (PPAR-alpha) is the major regulator of fatty acid oxidation in the liver. PPARalpha is also the target of fibrate drugs used to treat abnormal plasma ...
mitochondrial L-carnitine shuttle pathway, organism-specific biosystem (from BIOCYC)
mitochondrial L-carnitine shuttle pathway, organism-specific biosystemGeneral Background The mitochondrial : CARNITINE shuttle pathway is part of the cellular : CARNITINE system that regulates pools of : CO-A derivatives. This system is comprised of membrane proteins...
mitochondrial L-carnitine shuttle pathway, conserved biosystem (from BIOCYC)
mitochondrial L-carnitine shuttle pathway, conserved biosystemGeneral Background The mitochondrial |FRAME: CARNITINE| shuttle pathway is part of the cellular |FRAME: CARNITINE| system that regulates pools of |FRAME: CO-A| derivatives. This system is comprised...

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
carnitine O-palmitoyltransferase activity	IEA Inferred from Electronic Annotation more info
identical protein binding	IEA Inferred from Electronic Annotation more info
transferase activity, transferring acyl groups	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
carnitine shuttle	TAS Traceable Author Statement more info
cellular lipid metabolic process	TAS Traceable Author Statement more info
eating behavior	IEA Inferred from Electronic Annotation more info
fatty acid beta-oxidation	TAS Traceable Author Statement more info	PubMed
glucose metabolic process	IEA Inferred from Electronic Annotation more info
long-chain fatty acid metabolic process	IEA Inferred from Electronic Annotation more info
positive regulation of fatty acid beta-oxidation	IEA Inferred from Electronic Annotation more info
protein homooligomerization	IEA Inferred from Electronic Annotation more info
regulation of fatty acid oxidation	TAS Traceable Author Statement more info
regulation of insulin secretion	IEA Inferred from Electronic Annotation more info
response to drug	IEA Inferred from Electronic Annotation more info
response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
small molecule metabolic process	TAS Traceable Author Statement more info
transport	IEA Inferred from Electronic Annotation more info
triglyceride metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info
microsome	IEA Inferred from Electronic Annotation more info
mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
mitochondrial outer membrane	TAS Traceable Author Statement more info
mitochondrion	IDA Inferred from Direct Assay more info	PubMed

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General protein information

Preferred Names: carnitine O-palmitoyltransferase 1, liver isoform

Names: carnitine O-palmitoyltransferase 1, liver isoform; CPT I; CPTI-L; carnitine palmitoyltransferase I, liver; carnitine O-palmitoyltransferase I, liver isoform

NP_001027017.1

EC 2.3.1.21

NP_001867.2

EC 2.3.1.21

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NCBI Reference Sequences (RefSeq)

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.

Genomic

NG_011801.1 RefSeqGene

Range

5001..92312

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001031847.2 → NP_001027017.1 carnitine O-palmitoyltransferase 1, liver isoform isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternative 3' terminal exon compared to transcript variant 1. This results in a shorter isoform (2) with a different C-terminus compared to isoform 1.

Source sequence(s)

BC000185, DB063502

Consensus CDS

CCDS31624.1

UniProtKB/Swiss-Prot

P50416

Related

ENSP00000365803, ENST00000376618

Conserved Domains (1) summary

pfam00755
Location:170 – 745
Blast Score: 2051

Carn_acyltransf; Choline/Carnitine o-acyltransferase
NM_001876.3 → NP_001867.2 carnitine O-palmitoyltransferase 1, liver isoform isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AA632225, AJ420378, AK172798, AK309464, AK314301, AP003732, DB063502

Consensus CDS

CCDS8185.1

UniProtKB/TrEMBL

B2RAQ8

UniProtKB/Swiss-Prot

P50416

UniProtKB/TrEMBL

Q8WZ48

Related

ENSP00000265641, ENST00000265641

Conserved Domains (1) summary

pfam00755
Location:170 – 763
Blast Score: 2109

Carn_acyltransf; Choline/Carnitine o-acyltransferase

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

68522088..68609399, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

64858312..64945656, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AJ420747.1	CAD12625.1
genomic	AJ420748.2	CAD59673.1
genomic	AP000808.6	None
genomic	AP003732.4 (9925..94390)	None
genomic	CH471076.1	EAW74721.1
		EAW74722.1
mRNA	AA632225.1	None
mRNA	AJ420378.1	CAD12576.1
mRNA	AK025307.1	None
mRNA	AK172798.1	None
mRNA	AK309464.1	None
mRNA	AK314301.1	BAG36955.1
mRNA	BC000185.1	AAH00185.1
mRNA	BT009791.1	AAP88793.1
mRNA	DB063502.1	None
mRNA	L39211.1	AAC41748.1
mRNA	X83113.1	None