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

Aliases for CPT1A Gene

Aliases for CPT1A Gene

  • Carnitine Palmitoyltransferase 1A 2 3 4 5
  • Carnitine O-Palmitoyltransferase I, Liver Isoform 3 4
  • Carnitine Palmitoyltransferase 1A (Liver) 2 3
  • EC 2.3.1.21 4 61
  • 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
  • EC 2.3.1 61
  • 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) is a Protein Coding gene. Diseases associated with CPT1A include Cpt Deficiency, Hepatic, Type Ia and Carnitine Palmitoyltransferase Ii Deficiency. Among its related pathways are Circadian rythm related genes and Glucagon signaling pathway. GO annotations related to this gene include identical protein binding and carnitine O-palmitoyltransferase activity. An important paralog of this gene is CPT1B.

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 CIViC summary , 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

Enhancers for CPT1A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G068854 1.9 FANTOM5 Ensembl ENCODE dbSUPER 1.9 -12.1 -12099 4.5 FOXA2 MLX ARID4B DMAP1 YY1 SLC30A9 SP5 ZHX2 MXD4 ZNF592 IGHMBP2 LOC105369364 TESMIN MRPL21 CPT1A
GH11G068828 1.1 FANTOM5 Ensembl dbSUPER 2.4 +15.6 15610 2.0 CTCF MAX MYC SPI1 IGHMBP2 LOC105369364 CPT1A TESMIN GC11P068804
GH11G068837 1.4 ENCODE dbSUPER 0.7 +3.7 3666 8.1 HDGF PKNOX1 FOXA2 MLX AGO1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 IGHMBP2 MRPL21 CPT1A GC11P068804
GH11G068844 1 ENCODE 0.7 -0.8 -781 0.7 FOXA2 ATF1 ARID4B DMAP1 ZNF48 YY1 TCF12 SLC30A9 SP5 ZHX2 IGHMBP2 CPT1A LOC105369364
GH11G068825 1.2 Ensembl ENCODE dbSUPER 0.4 +18.6 18622 1.3 CTCF TFAP4 PKNOX1 FOXA3 ARID4B REST RAD21 GABPA JUND GABPB1 IGHMBP2 CPT1A GC11P068804
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CPT1A on UCSC Golden Path with GeneCards custom track

Promoters for CPT1A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000264584 310 201 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A ZNF2 ZNF48 YY1
ENSR00000264585 1210 401 CTCF CBFB CHD4 CBX2 RAD21 ZKSCAN8 SMC3 ZBTB33 EZH2

Genomic Location for CPT1A Gene

Chromosome:
11
Start:
68,754,620 bp from pter
End:
68,844,410 bp from pter
Size:
89,791 bases
Orientation:
Minus strand

Genomic View for CPT1A Gene

Genes around CPT1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CPT1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P50416-CPT1A_HUMAN
    Recommended name:
    Carnitine O-palmitoyltransferase 1, liver isoform
    Protein Accession:
    P50416
    Secondary Accessions:
    • Q8TCU0
    • Q9BWK0

    Protein attributes for CPT1A Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for CPT1A Gene

Selected DME Specific Peptides for CPT1A Gene

P50416:
  • EVLSEPW
  • SPDAFVQ
  • YRLAMTG
  • IHAILLYR
  • RIPGEETDTIQH
  • GKFCLTYEASMTR
  • LLSYHGWMF
  • FREGRTETVRSC
  • AAFFVTLDE
  • MSSQTKN
  • PMLYSFQTSLP
  • GGGFGPVAD
  • NYVSDWWEE
  • RWFDKSF
  • PETDSHRFG

Post-translational modifications for CPT1A Gene

  • Ubiquitination at isoforms=286, Lys161, isoforms=2180, and isoforms=2195
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CPT1A (CPT1A)
  • Cloud-Clone Corp. Antibodies for CPT1A
  • Santa Cruz Biotechnology (SCBT) Antibodies for CPT1A

Domains & Families for CPT1A Gene

Protein Domains for CPT1A Gene

Suggested Antigen Peptide Sequences for CPT1A Gene

Graphical View of Domain Structure for InterPro Entry

P50416

UniProtKB/Swiss-Prot:

CPT1A_HUMAN :
  • 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.
Domain:
  • 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.
Family:
  • 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 TAS --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0042802 identical protein binding IEA --
GO:1990698 palmitoleoyltransferase activity IEA --
genes like me logo Genes that share ontologies with CPT1A: view
genes like me logo Genes that share phenotypes with CPT1A: view

Human Phenotype Ontology for CPT1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CPT1A Gene

MGI Knock Outs for CPT1A:

Animal Model Products

  • Taconic Biosciences Mouse Models for CPT1A

CRISPR Products

miRNA for CPT1A Gene

miRTarBase miRNAs that target CPT1A

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CPT1A gene
Compartment Confidence
mitochondrion 5
peroxisome 4
nucleus 2
endoplasmic reticulum 2
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for CPT1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,TAS 11350182
GO:0005741 mitochondrial outer membrane TAS --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CPT1A: view

Pathways & Interactions for CPT1A Gene

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

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:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation IEA,TAS --
genes like me logo Genes that share ontologies with CPT1A: view

No data available for SIGNOR curated interactions for CPT1A Gene

Drugs & Compounds for CPT1A Gene

(29) Drugs for CPT1A Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Perhexiline Approved Pharma inhibitor, Target 8
L-Carnitine Approved Pharma Target, activator 0
Glyburide Approved Pharma Channel blocker, Target Kir6 (KATP) channel blocker 114
Glycerol Approved, Experimental Pharma 238
Etomoxir Pharma (CPT)-1 and DGAT activity inhibitor 0

(21) Additional Compounds for CPT1A Gene - From: HMDB and Novoseek