Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CPT1A Gene

Aliases for CPT1A Gene

  • Carnitine Palmitoyltransferase 1A (Liver) 2 3
  • Carnitine O-Palmitoyltransferase I, Liver Isoform 3 4
  • EC 4 63
  • CPT1-L 3 4
  • CPTI-L 3 4
  • CPT I 3 4
  • CPT1 3 4
  • Carnitine O-Palmitoyltransferase 1, Liver Isoform 3
  • Carnitine Palmitoyltransferase I, Liver 3
  • Carnitine Palmitoyltransferase 1A 4
  • EC 2.3.1 63
  • L-CPT1 3

External Ids for CPT1A Gene

Previous HGNC Symbols for CPT1A Gene

  • CPT1

Previous GeneCards Identifiers for CPT1A Gene

  • GC11M071048
  • GC11M070218
  • GC11M068300
  • GC11M068279
  • GC11M068524
  • GC11M064859

Summaries for CPT1A Gene

Entrez Gene Summary for CPT1A Gene

  • 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]

GeneCards Summary for CPT1A Gene

CPT1A (Carnitine Palmitoyltransferase 1A (Liver)) is a Protein Coding gene. Diseases associated with CPT1A include cpt deficiency, hepatic, type ia and carnitine palmitoyltransferase i deficiency , muscle. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include identical protein binding and carnitine O-palmitoyltransferase activity. An important paralog of this gene is CRAT.

UniProtKB/Swiss-Prot for CPT1A Gene

  • Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Plays an important role in triglyceride metabolism

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CPT1A Gene

Genomics for CPT1A Gene

Regulatory Elements for CPT1A Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CPT1A Gene

68,754,620 bp from pter
68,844,410 bp from pter
89,791 bases
Minus strand

Genomic View for CPT1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CPT1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CPT1A Gene

Proteins for CPT1A Gene

  • Protein details for CPT1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Carnitine O-palmitoyltransferase 1, liver isoform
    Protein Accession:
    Secondary Accessions:
    • Q8TCU0
    • Q9BWK0

    Protein attributes for CPT1A Gene

    773 amino acids
    Molecular mass:
    88368 Da
    Quaternary structure:
    • Homohexamer and homotrimer. Identified in a complex that contains at least CPT1A, ACSL1 and VDAC1. Also identified in complexes with ACSL1 and VDAC2 and VDAC3 (By similarity).

    Three dimensional structures from OCA and Proteopedia for CPT1A Gene

    Alternative splice isoforms for CPT1A Gene


neXtProt entry for CPT1A Gene

Proteomics data for CPT1A Gene at MOPED

Post-translational modifications for CPT1A Gene

  • Ubiquitination at Lys86, Lys161, Lys180, and Lys195
  • Modification sites at PhosphoSitePlus

Other Protein References for CPT1A Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CPT1A (CPT1A)

Domains for CPT1A Gene

Protein Domains for CPT1A Gene

Suggested Antigen Peptide Sequences for CPT1A Gene

Graphical View of Domain Structure for InterPro Entry



  • P50416
  • A conformation change in the N-terminal region spanning the first 42 residues plays an important role in the regulation of enzyme activity by malonyl-CoA.
  • Belongs to the carnitine/choline acetyltransferase family.
genes like me logo Genes that share domains with CPT1A: view

No data available for Gene Families for CPT1A Gene

Function for CPT1A Gene

Molecular function for CPT1A Gene

GENATLAS Biochemistry:
carnitine palmitoyltransferase of the outer mitochondrial membrane 1A,88kDa,malonyl CoA sensitive,liver isoform,generating palmitoylcarnitine and CoAsH (palmitoyl-CoA shuttle system)
UniProtKB/Swiss-Prot CatalyticActivity:
Palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by malonyl-CoA.
UniProtKB/Swiss-Prot Function:
Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Plays an important role in triglyceride metabolism
UniProtKB/Swiss-Prot Induction:
Up-regulated by fatty acids.

Enzyme Numbers (IUBMB) for CPT1A Gene

Gene Ontology (GO) - Molecular Function for CPT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004095 carnitine O-palmitoyltransferase activity IDA 11350182
GO:0005515 protein binding --
GO:0016746 transferase activity, transferring acyl groups --
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with CPT1A: view

Phenotypes for CPT1A Gene

genes like me logo Genes that share phenotypes with CPT1A: view

Animal Models for CPT1A Gene

MGI Knock Outs for CPT1A:

Animal Model Products

CRISPR Products

miRNA for CPT1A Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CPT1A

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for CPT1A Gene

Localization for CPT1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CPT1A Gene

Mitochondrion outer membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for CPT1A Gene COMPARTMENTS Subcellular localization image for CPT1A gene
Compartment Confidence
mitochondrion 5
peroxisome 3
cytosol 1
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CPT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005741 mitochondrial outer membrane TAS --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with CPT1A: view

Pathways for CPT1A Gene

genes like me logo Genes that share pathways with CPT1A: view

PCR Array Products

UniProtKB/Swiss-Prot P50416-CPT1A_HUMAN

  • Pathway: Lipid metabolism; fatty acid beta-oxidation

Gene Ontology (GO) - Biological Process for CPT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001676 long-chain fatty acid metabolic process IDA 11350182
GO:0006006 glucose metabolic process IEA --
GO:0006635 fatty acid beta-oxidation IEA --
GO:0006641 triglyceride metabolic process IEA --
GO:0006853 carnitine shuttle TAS --
genes like me logo Genes that share ontologies with CPT1A: view

Compounds for CPT1A Gene

(123) HMDB Compounds for CPT1A Gene

Compound Synonyms Cas Number PubMed IDs
Coenzyme A
  • Acetoacetyl coenzyme A sodium salt
  • 1,2,3-Trihydroxypropane
  • (-)-(R)-3-Hydroxy-4-(trimethylammonio)butyrate
  • Palmitoyl d-carnitine
  • Palmityl-CoA

(2) Drugbank Compounds for CPT1A Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
  • (-)-Carnitine
541-15-1 target activator
  • (-)-2-(2,2-Dicyclohexylethyl)piperidine
6621-47-2 target inhibitor

(37) Novoseek inferred chemical compound relationships for CPT1A Gene

Compound -log(P) Hits PubMed IDs
carnitine 95.9 141
etomoxir 88.4 13
fatty acid 82.9 72
poca 80.8 3
malonyl-coa 79.7 7
genes like me logo Genes that share compounds with CPT1A: view

Transcripts for CPT1A Gene

Unigene Clusters for CPT1A Gene

Carnitine palmitoyltransferase 1A (liver):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CPT1A

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CPT1A Gene

No ASD Table

Relevant External Links for CPT1A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CPT1A Gene

mRNA expression in normal human tissues for CPT1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for CPT1A Gene

This gene is overexpressed in Nasal epithelium (13.6) and Peripheral blood mononuclear cells (8.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CPT1A Gene

SOURCE GeneReport for Unigene cluster for CPT1A Gene Hs.503043

mRNA Expression by UniProt/SwissProt for CPT1A Gene

Tissue specificity: Strong expression in kidney and heart, and lower in liver and skeletal muscle
genes like me logo Genes that share expressions with CPT1A: view

Expression partners for CPT1A Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CPT1A Gene

Orthologs for CPT1A Gene

This gene was present in the common ancestor of animals.

Orthologs for CPT1A Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CPT1A 35
  • 85.47 (n)
  • 89.65 (a)
CPT1A 36
  • 90 (a)
(Canis familiaris)
Mammalia CPT1A 35
  • 85.9 (n)
  • 91.2 (a)
CPT1A 36
  • 91 (a)
(Mus musculus)
Mammalia Cpt1a 35
  • 81.89 (n)
  • 86.55 (a)
Cpt1a 16
Cpt1a 36
  • 87 (a)
(Pan troglodytes)
Mammalia CPT1A 35
  • 99.31 (n)
  • 99.48 (a)
CPT1A 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Cpt1a 35
  • 81.54 (n)
  • 86.55 (a)
(Monodelphis domestica)
Mammalia CPT1A 36
  • 86 (a)
(Ornithorhynchus anatinus)
Mammalia CPT1A 36
  • 83 (a)
(Gallus gallus)
Aves CPT1A 35
  • 73.46 (n)
  • 80.65 (a)
CPT1A 36
  • 81 (a)
(Anolis carolinensis)
Reptilia CPT1A 36
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490391 35
  • 73.84 (n)
  • 82.23 (a)
Str.5281 35
African clawed frog
(Xenopus laevis)
Amphibia MGC53498 35
(Danio rerio)
Actinopterygii si:ch211-236l14.3 35
  • 68.56 (n)
  • 71.67 (a)
CABZ01055343.2 36
  • 65 (a)
cpt1a 36
  • 70 (a)
CPT1A (3 of 3) 36
  • 71 (a)
fruit fly
(Drosophila melanogaster)
Insecta CPTI 37
  • 50 (a)
whd 36
  • 49 (a)
(Caenorhabditis elegans)
Secernentea K11D12.4 37
  • 34 (a)
W01A11.5 37
  • 35 (a)
W03F9.4 37
  • 38 (a)
Y46G5A.17 37
  • 48 (a)
Y48G9A.10 37
  • 30 (a)
cpt-1 36
  • 45 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3088 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
Species with no ortholog for CPT1A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CPT1A Gene

Gene Tree for CPT1A (if available)
Gene Tree for CPT1A (if available)

Paralogs for CPT1A Gene

Paralogs for CPT1A Gene

Selected SIMAP similar genes for CPT1A Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with CPT1A: view

Variants for CPT1A Gene

Sequence variations from dbSNP and Humsavar for CPT1A Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs583914 -- 68,833,766(+) TTCCC(A/C)AACCT intron-variant
rs593062 -- 68,837,787(+) CGCCA(C/T)GGCAC intron-variant
rs593064 -- 68,837,792(+) cggca(C/T)tccag intron-variant
rs597316 -- 68,843,342(+) CATTG(C/G)ACAAT upstream-variant-2KB
rs597539 -- 68,834,506(+) caata(C/G)tttgg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CPT1A Gene

Variant ID Type Subtype PubMed ID
nsv509422 CNV Insertion 20534489
nsv428261 CNV Gain 18775914
esv2664873 CNV Deletion 23128226
nsv825967 CNV Loss 20364138
nsv825968 CNV Loss 20364138
nsv825969 CNV Gain 20364138
nsv373 CNV Loss 18451855
esv2744667 CNV Deletion 23290073

Relevant External Links for CPT1A Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPT1A Gene

Disorders for CPT1A Gene

(1) OMIM Diseases for CPT1A Gene (600528)


  • Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]: Rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood. {ECO:0000269 PubMed:11350182, ECO:0000269 PubMed:11441142, ECO:0000269 PubMed:12189492, ECO:0000269 PubMed:14517221, ECO:0000269 PubMed:15110323, ECO:0000269 PubMed:15669684, ECO:0000269 PubMed:9691089}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for CPT1A Gene

(22) Novoseek inferred disease relationships for CPT1A Gene

Disease -log(P) Hits PubMed IDs
carnitine palmitoyltransferase i deficiency 97.7 26
carnitine palmitoyltransferase ii deficiency 73.6 2
reye-like syndrome 66.1 1
hypoglycemia 56.6 7
fatty liver 41.6 1

Genatlas disease for CPT1A Gene

non ketotic hypoglycemia,infant form,Reye-like syndrome,sudden infant death syndrome

Relevant External Links for CPT1A

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with CPT1A: view

Publications for CPT1A Gene

  1. Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene. (PMID: 7892212) Britton C.H. … McGarry J.D. (Proc. Natl. Acad. Sci. U.S.A. 1995) 2 3 4 23
  2. Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal. (PMID: 14711372) Morillas M. … Asins G. (Biochem. J. 2004) 3 4 23 25
  3. Molecular basis of hepatic carnitine palmitoyltransferase I deficiency. (PMID: 9691089) IJlst L. … Wanders R.J. (J. Clin. Invest. 1998) 3 4 23
  4. Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B). (PMID: 9070950) Britton C.H. … McGarry J.D. (Genomics 1997) 2 3 23
  5. Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme. (PMID: 11441142) Brown N.F. … Cohen J.C. (J. Lipid Res. 2001) 3 4 23

Products for CPT1A Gene

Sources for CPT1A Gene

Back to Top