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

Gene ID: 1374, updated on 7-Apr-2024

Summary

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Official Symbol
CPT1Aprovided by HGNC
Official Full Name
carnitine palmitoyltransferase 1Aprovided by HGNC
Primary source
HGNC:HGNC:2328
See related
Ensembl:ENSG00000110090 MIM:600528; AllianceGenome:HGNC:2328
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]
Expression
Ubiquitous expression in colon (RPKM 34.6), small intestine (RPKM 28.5) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
11q13.3
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (68754620..68844277, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (68760743..68850531, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (68522088..68609384, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984343 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:68452083-68452758 Neighboring gene Sharpr-MPRA regulatory region 1260 Neighboring gene NANOG hESC enhancer GRCh37_chr11:68462220-68462721 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:68474187-68474945 Neighboring gene galanin and GMAP prepropeptide Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:68479758-68480258 Neighboring gene testis expressed metallothionein like protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:68518115-68519100 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3678 Neighboring gene uncharacterized LOC124902699 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68531008-68531810 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:68549035-68550234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68565881-68566380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3679 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3682 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3683 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68609778-68610303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5144 Neighboring gene uncharacterized LOC124902700 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3685 Neighboring gene long intergenic non-protein coding RNA 2701

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Carnitine palmitoyltransferase 1A promotes mitochondrial fission by enhancing MFF succinylation in ovarian cancer. Zhu Y, et al. Commun Biol, 2023 Jun 8. PMID 37291333, Free PMC Article
  2. The impact of variance in carnitine palmitoyltransferase-1 expression on breast cancer prognosis is stratified by clinical and anthropometric factors. Liu R, et al. PLoS One, 2023. PMID 36735704, Free PMC Article
  3. Neutrophil trafficking to the site of infection requires Cpt1a-dependent fatty acid β-oxidation. Pham L, et al. Commun Biol, 2022 Dec 13. PMID 36513703, Free PMC Article
  4. CPT1A promotes anoikis resistance in esophageal squamous cell carcinoma via redox homeostasis. Tian T, et al. Redox Biol, 2022 Dec. PMID 36427397, Free PMC Article
  5. Augmented CPT1A Expression Is Associated with Proliferation and Colony Formation during Barrett's Tumorigenesis. Bernard JN, et al. Int J Mol Sci, 2022 Oct 4. PMID 36233047, Free PMC Article

See all (192) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CPT1A mediates the succinylation of SP5 which activates transcription of PDPK1 to promote the viability and glycolysis of prostate cancer cells.
    Title: CPT1A mediates the succinylation of SP5 which activates transcription of PDPK1 to promote the viability and glycolysis of prostate cancer cells.
  2. Multi-tissue epigenetic analysis identifies distinct associations underlying insulin resistance and Alzheimer's disease at CPT1A locus.
    Title: Multi-tissue epigenetic analysis identifies distinct associations underlying insulin resistance and Alzheimer's disease at CPT1A locus.
  3. CPT1A-mediated fatty acid oxidation confers cancer cell resistance to immune-mediated cytolytic killing.
    Title: CPT1A-mediated fatty acid oxidation confers cancer cell resistance to immune-mediated cytolytic killing.
  4. DNA Methylation Near CPT1A and Changes in Triglyceride-rich Lipoproteins in Response to Weight-loss Diet Interventions.
    Title: DNA Methylation Near CPT1A and Changes in Triglyceride-rich Lipoproteins in Response to Weight-loss Diet Interventions.
  5. NQO1/CPT1A promotes the progression of pancreatic adenocarcinoma via fatty acid oxidation.
    Title: NQO1/CPT1A promotes the progression of pancreatic adenocarcinoma via fatty acid oxidation.
  6. Carnitine palmitoyltransferase 1A promotes mitochondrial fission by enhancing MFF succinylation in ovarian cancer.
    Title: Carnitine palmitoyltransferase 1A promotes mitochondrial fission by enhancing MFF succinylation in ovarian cancer.
  7. CPT1A modulates PI3K/Akt/mTOR pathway to promote preeclampsia.
    Title: CPT1A modulates PI3K/Akt/mTOR pathway to promote preeclampsia.
  8. The impact of variance in carnitine palmitoyltransferase-1 expression on breast cancer prognosis is stratified by clinical and anthropometric factors.
    Title: The impact of variance in carnitine palmitoyltransferase-1 expression on breast cancer prognosis is stratified by clinical and anthropometric factors.
  9. Dual inhibition of CPT1A and G6PD suppresses glioblastoma tumorspheres.
    Title: Dual inhibition of CPT1A and G6PD suppresses glioblastoma tumorspheres.
  10. Neutrophil trafficking to the site of infection requires Cpt1a-dependent fatty acid beta-oxidation.
    Title: Neutrophil trafficking to the site of infection requires Cpt1a-dependent fatty acid β-oxidation.
Submit: New GeneRIF Correction See all GeneRIFs (108)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

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 TAS
Traceable Author Statement
more info
  
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables palmitoleoyltransferase activity IEA
Inferred from Electronic Annotation
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 IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in carnitine shuttle TAS
Traceable Author Statement
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 epithelial cell differentiation IEP
Inferred from Expression Pattern
more info
 PubMed 
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 glucose metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in liver regeneration IEA
Inferred from Electronic Annotation
more info
  
involved_in long-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of fatty acid beta-oxidation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of insulin secretion IEA
Inferred from Electronic Annotation
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
  
Component Evidence Code Pubs
located_in membrane HDA PubMed 
located_in mitochondrial outer membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
carnitine O-palmitoyltransferase 1, liver isoform
Names
CPT I
CPTI-L
carnitine palmitoyltransferase 1A (liver)
carnitine palmitoyltransferase I, liver
NP_001027017.1
NP_001867.2
XP_016872709.1
XP_047282332.1
XP_047282333.1
XP_054223669.1
XP_054223670.1
XP_054223671.1

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

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_011801.2 RefSeqGene

    Range
    7361..94394
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001031847.3 → NP_001027017.1  carnitine O-palmitoyltransferase 1, liver isoform isoform 2

    See identical proteins and their annotated locations for 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)
    AP000808, AP003732
    Consensus CDS
    CCDS31624.1
    UniProtKB/TrEMBL
    B2RAQ8
    Related
    ENSP00000365803.2, ENST00000376618.6
    Conserved Domains (2) summary
    pfam00755
    Location:171 → 745
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:1 → 46
    CPT_N; Carnitine O-palmitoyltransferase N-terminus

  2. NM_001876.4 → NP_001867.2  carnitine O-palmitoyltransferase 1, liver isoform isoform 1

    See identical proteins and their annotated locations for NP_001867.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AP000808, AP003732
    Consensus CDS
    CCDS8185.1
    UniProtKB/Swiss-Prot
    P50416, Q8TCU0, Q9BWK0
    UniProtKB/TrEMBL
    B2RAQ8
    Related
    ENSP00000265641.4, ENST00000265641.10
    Conserved Domains (2) summary
    pfam00755
    Location:171 → 761
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:1 → 46
    CPT_N; Carnitine O-palmitoyltransferase N-terminus

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    68754620..68844277 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426377.1 → XP_047282333.1  carnitine O-palmitoyltransferase 1, liver isoform isoform X2

  2. XM_017017220.2 → XP_016872709.1  carnitine O-palmitoyltransferase 1, liver isoform isoform X3

    UniProtKB/Swiss-Prot
    P50416, Q8TCU0, Q9BWK0
    UniProtKB/TrEMBL
    B2RAQ8
    Related
    ENSP00000446108.1, ENST00000539743.5
    Conserved Domains (2) summary
    pfam00755
    Location:171 → 761
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:1 → 46
    CPT_N; Carnitine O-palmitoyltransferase N-terminus

  3. XM_047426376.1 → XP_047282332.1  carnitine O-palmitoyltransferase 1, liver isoform isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    68760743..68850531 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367695.1 → XP_054223670.1  carnitine O-palmitoyltransferase 1, liver isoform isoform X2

  2. XM_054367696.1 → XP_054223671.1  carnitine O-palmitoyltransferase 1, liver isoform isoform X3

    UniProtKB/Swiss-Prot
    P50416, Q8TCU0, Q9BWK0

  3. XM_054367694.1 → XP_054223669.1  carnitine O-palmitoyltransferase 1, liver isoform isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P50416.2 GenPept UniProtKB/Swiss-Prot:P50416

Gene LinkOut

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