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

Gene ID: 1374, updated on 17-Feb-2015
Official Symbol
CPT1Aprovided by HGNC
Official Full Name
carnitine palmitoyltransferase 1A (liver)provided by HGNC
Primary source
HGNC: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]
Orthologs
See CPT1A in MapViewer
Location:
11q13.2
Exon count:
21
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (68754620..68841931, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (68522088..68611878, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene galanin/GMAP prepropeptide Neighboring gene metallothionein-like 5, testis-specific (tesmin) Neighboring gene mitochondrial ribosomal protein L21 Neighboring gene immunoglobulin mu binding protein 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Replication interactions

Interaction Pubs
Knockdown of carnitine palmitoyltransferase 1A (CPT1A) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

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
Vpr vpr HIV-1 Vpr enhances PPARbeta/delta-induced PDK4, carnitine palmitoyltransferase I (CPT1), and acetyl-coenzyme A acyltransferase 2 (ACAA2) mRNA expression in cells PubMed

Go to the HIV-1, Human Interaction Database

  • 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...
  • AMPK signaling pathway, organism-specific biosystem (from KEGG)
    AMPK signaling pathway, organism-specific biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • AMPK signaling pathway, conserved biosystem (from KEGG)
    AMPK signaling pathway, conserved biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • 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 (ARNTL:CLOCK/NPAS2) heterodimer transactivates CRY and PER genes by b...
  • 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 degradation, organism-specific biosystem (from KEGG)
    Fatty acid degradation, organism-specific biosystem
    Fatty acid degradation
  • Fatty acid degradation, conserved biosystem (from KEGG)
    Fatty acid degradation, conserved biosystem
    Fatty acid degradation
  • 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 gene expression, organism-specific biosystem (from REACTOME)
    RORA activates circadian gene 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 ...
  • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Retinoic Acid, organism-specific biosystem (from REACTOME)
    Signaling by Retinoic Acid, organism-specific biosystemVitamin A (retinol) can be metabolised into active retinoid metabolites that function either as a chromophore in vision or in regulating gene expression transcriptionally and post-transcriptionally. ...
  • mitochondrial L-carnitine shuttle, organism-specific biosystem (from BIOCYC)
    mitochondrial L-carnitine shuttle, organism-specific biosystemGeneral Background The : FAO-PWY pathway occurs in the mitochondrial matrix and plays an important role in energy production. During fasting, fatty acids are used for hepatic ketone-body synthesis. ...
  • mitochondrial L-carnitine shuttle, conserved biosystem (from BIOCYC)
    mitochondrial L-carnitine shuttle, 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carnitine O-palmitoyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
carnitine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
carnitine shuttle TAS
Traceable Author Statement
more info
 
cellular lipid metabolic process TAS
Traceable Author Statement
more info
 
cellular response to fatty acid IEA
Inferred from Electronic Annotation
more info
 
circadian rhythm TAS
Traceable Author Statement
more info
 
eating behavior IEA
Inferred from Electronic Annotation
more info
 
epithelial cell differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
fatty acid beta-oxidation IEA
Inferred from Electronic Annotation
more info
 
glucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
long-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
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 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
 
triglyceride metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of mitochondrial outer membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
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
 
Preferred Names
carnitine O-palmitoyltransferase 1, liver isoform
Names
carnitine O-palmitoyltransferase 1, liver isoform
CPT I
CPTI-L
carnitine O-palmitoyltransferase I, liver isoform
carnitine palmitoyltransferase I, liver
NP_001027017.1
NP_001867.2

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

  1. NG_011801.1 RefSeqGene

    Range
    5001..92312
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to NP_001027017.1

    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:170745
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  2. NM_001876.3NP_001867.2  carnitine O-palmitoyltransferase 1, liver isoform isoform 1

    See proteins identical to NP_001867.2

    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
    A0A024R5F4
    UniProtKB/TrEMBL
    B2RAQ8
    UniProtKB/Swiss-Prot
    P50416
    UniProtKB/TrEMBL
    Q8WZ48
    Related
    ENSP00000265641, OTTHUMP00000237552, ENST00000265641, OTTHUMT00000397457
    Conserved Domains (1) summary
    pfam00755
    Location:170763
    Carn_acyltransf; Choline/Carnitine o-acyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38 Primary Assembly

    Range
    68754620..68841931
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273763.1XP_005273820.1  

    Conserved Domains (1) summary
    pfam00755
    Location:202777
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  2. XM_005273762.1XP_005273819.1  

    Conserved Domains (1) summary
    pfam00755
    Location:202795
    Carn_acyltransf; Choline/Carnitine o-acyltransferase

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    68405839..68493144
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000143.1 Alternate HuRef

    Range
    64858312..64945656
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)