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CPT1A Gene

protein-coding   GIFtS: 69
GCID: GC11M068524

Carnitine Palmitoyltransferase 1A (Liver)


(Previous symbol: CPT1)
  See CPT1A-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Carnitine Palmitoyltransferase 1A (Liver)1 2     EC 2.3.1.213 8
CPT11 2 3     L-CPT12
Carnitine O-Palmitoyltransferase I, Liver Isoform2 3     Carnitine O-Palmitoyltransferase 1, Liver Isoform2
CPT1-L2 3     Carnitine Palmitoyltransferase I, Liver2
CPTI-L2 3     Carnitine Palmitoyltransferase 1A3
CPT I2 3     EC 2.3.18

External Ids:    HGNC: 23281   Entrez Gene: 13742   Ensembl: ENSG000001100907   OMIM: 6005285   UniProtKB: P504163   

Export aliases for CPT1A gene to outside databases

Previous GC identifers: GC11M071048 GC11M070218 GC11M068772 GC11M068300 GC11M068279 GC11M064859


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 1a deficiency. GO annotations related to this gene include carnitine O-palmitoyltransferase activity and identical protein binding. An important paralog of this gene is CROT.

UniProtKB/Swiss-Prot: CPT1A_HUMAN, P50416
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CPT1A gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 2   AP-2alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CPT1A promoter sequence
   Search Chromatin IP Primers for CPT1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CPT1A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13.2   Ensembl cytogenetic band:  11q13.3   HGNC cytogenetic band: 11q13.2

CPT1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CPT1A gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M068524:  view genomic region     (about GC identifiers)

Start:
68,522,088 bp from pter      End:
68,611,878 bp from pter
Size:
89,791 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CPT1A_HUMAN, P50416 (See protein sequence)
Recommended Name: Carnitine O-palmitoyltransferase 1, liver isoform  
Size: 773 amino acids; 88368 Da
Subunit: 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)
1 PDB 3D structure from and Proteopedia for CPT1A:
2LE3 (3D)    
Secondary accessions: Q8TCU0 Q9BWK0
Alternative splicing: 2 isoforms:  P50416-1   P50416-2   

Explore the universe of human proteins at neXtProt for CPT1A: NX_P50416

Explore proteomics data for CPT1A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys86, Lys161, Lys180, Lys195
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CPT1A (P50416) (see all 15)
     EVLSEPW  MSSQTKN  RWFDKSF  YRLAMTG 


    See CPT1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001027017.1  NP_001867.2  

    ENSEMBL proteins: 
     ENSP00000439084   ENSP00000265641   ENSP00000446108   ENSP00000454332   ENSP00000457826  
     ENSP00000455116   ENSP00000457663   ENSP00000365803  
    Reactome Protein details: P50416

    CPT1A Human Recombinant Protein Products:

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    Novus Biologicals CPT1A Proteins
    Novus Biologicals CPT1A Lysates
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    Cloud-Clone Corp. Proteins for CPT1A

     
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    CPT1A Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CPT1A
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    CPT1A Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for CPT1A
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CPT1A
    Cloud-Clone Corp. CLIAs for CPT1A
    Search eBioscience for ELISAs for CPT1A 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR000542 Carn_acyl_trans

    Graphical View of Domain Structure for InterPro Entry P50416

    ProtoNet protein and cluster: P50416

    1 Blocks protein domain: IPB000542 Acyltransferase ChoActase/COT/CPT

    UniProtKB/Swiss-Prot: CPT1A_HUMAN, P50416
    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
    Similarity: Belongs to the carnitine/choline acetyltransferase family


    Find genes that share domains with CPT1A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CPT1A_HUMAN, P50416
    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
    Catalytic activity: Palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine
    Enzyme regulation: Inhibited by malonyl-CoA
    Induction: Up-regulated by fatty acids

         Genatlas biochemistry entry for CPT1A:
    carnitine palmitoyltransferase of the outer mitochondrial membrane 1A,88kDa,malonyl CoA sensitive,liver
    isoform,generating palmitoylcarnitine and CoAsH (palmitoyl-CoA shuttle system)

         Enzyme Numbers (IUBMB): EC 2.3.1.211 2 EC 2.3.12

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004095carnitine O-palmitoyltransferase activity IDA11350182
    GO:0005515protein binding ----
    GO:0016746transferase activity, transferring acyl groups ----
    GO:0042802identical protein binding IEA--
         
    Find genes that share ontologies with CPT1A           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for CPT1A:
     Decreased Wnt reporter activit  Decreased nuclei size in G2M 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cpt1a):
     homeostasis/metabolism  mortality/aging  other 

    Find genes that share phenotypes with CPT1A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cpt1atm1Pwo for CPT1A

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CPT1A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CPT1A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CPT1A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CPT1A

    miRNA
    Products:
        
    miRTarBase miRNAs that target CPT1A:
    hsa-mir-197-3p (MIRT048093), hsa-mir-370-3p (MIRT004535), hsa-mir-16-5p (MIRT031747), hsa-mir-155-5p (MIRT020838)

    Block miRNA regulation of human, mouse, rat CPT1A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CPT1A (see all 44):
    hsa-miR-194* hsa-miR-579 hsa-miR-4307 hsa-miR-328 hsa-miR-3152-3p hsa-miR-188-5p hsa-miR-3161 hsa-miR-1276
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): CPT1A 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CPT1A
    Predesigned siRNA for gene silencing in human, mouse, rat CPT1A

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): CPT1A (NM_001031847)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CPT1A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPT1A

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPT1A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CPT1A_HUMAN, P50416: Mitochondrion outer membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    peroxisome3
    cytosol1
    endoplasmic reticulum1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005741mitochondrial outer membrane TAS--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0016021integral component of membrane ----
    GO:0031307integral component of mitochondrial outer membrane ISS--

    Find genes that share ontologies with CPT1A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CPT1A About   (see all 14)  
    See pathways by source

    SuperPathContained pathways About
    1Fatty acid metabolism
    Fatty acid metabolism0.42
    mitochondrial L-carnitine shuttle pathway0.00
    Fatty acid degradation0.42
    2Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    PPARA Activates Gene Expression0.63
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.65
    Import of palmitoyl-CoA into the mitochondrial matrix0.00
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4Mitochondrial LC-Fatty Acid Beta-Oxidation
    Mitochondrial LC-Fatty Acid Beta-Oxidation0.35
    Fatty Acid Beta Oxidation0.35
    5Circadian Repression of Expression by REV-ERBA
    RORA Activates Circadian Expression0.88


    Find genes that share SuperPaths with CPT1A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for CPT1A
        AMPK Enzyme Complex Pathway

    1 Cell Signaling Technology (CST) Pathway for CPT1A
        Glucose / Energy Metabolism

    1 GeneGo (Thomson Reuters) Pathway for CPT1A
        Development Leptin signaling via PI3K-dependent pathway

    Selected BioSystems Pathways for CPT1A (see all 6)
        AMPK signaling
    SIDS Susceptibility Pathways
    Fatty Acid Beta Oxidation
    mitochondrial L-carnitine shuttle pathway
    FOXA2 and FOXA3 transcription factor networks

    3 Reactome Pathways for CPT1A
        PPARA activates gene expression
    Import of palmitoyl-CoA into the mitochondrial matrix
    RORA activates circadian gene expression


    4 Kegg Pathways  (Kegg details for CPT1A):
        Fatty acid degradation
    Fatty acid metabolism
    PPAR signaling pathway
    Adipocytokine signaling pathway

    UniProtKB/Swiss-Prot: CPT1A_HUMAN, P50416
    Pathway: Lipid metabolism; fatty acid beta-oxidation

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CPT1A: 

              Fatty Acid Metabolism in human mouse rat
              Fatty Liver in human mouse rat
              PPAR Targets in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CPT1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CPT1A (P504163 ENSP000002656414) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCL2P104153, ENSP000003296234I2D: score=2 STRING: ENSP00000329623
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    CLN3Q132863, ENSP000003530734I2D: score=2 STRING: ENSP00000353073
    MAPK3P273613, ENSP000002630254I2D: score=1 STRING: ENSP00000263025
    ACADLENSP000002337104STRING: ENSP00000233710
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001676long-chain fatty acid metabolic process IDA11350182
    GO:0006006glucose metabolic process IEA--
    GO:0006635fatty acid beta-oxidation IEA--
    GO:0006641triglyceride metabolic process IEA--
    GO:0006853carnitine shuttle TAS--

    Find genes that share ontologies with CPT1A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CPT1A

    Selected HMDB Compounds for CPT1A (see all 123)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    Glycerol1,2,3-Trihydroxypropane (see all 22)56-81-5--
    L-Carnitine(-)-(R)-3-Hydroxy-4-(trimethylammonio)butyrate (see all 33)541-15-1--
    L-PalmitoylcarnitinePalmitoyl d-carnitine (see all 16)2364-67-2--
    Palmityl-CoAPalmityl-CoA (see all 13)1763-10-6--
    TG(12:0/12:0/12:0)Triacylglycerol (see all 11)----
    TG(16:0/16:0/16:1(9Z))[iso3]TG(16:0/16:0/16:1) (see all 15)----
    TG(16:0/16:0/18:0)[iso3]TG(16:0/16:0/18:0) (see all 9)----
    TG(16:0/16:0/18:1(9Z))[iso3]TG(16:0/16:0/18:1) (see all 15)----
    TG(16:0/16:0/18:2(9Z,12Z))[iso3]TG(16:0/16:0/18:2) (see all 15)----

    2 DrugBank Compounds for CPT1A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Perhexiline(-)-2-(2,2-Dicyclohexylethyl)piperidine (see all 7)6621-47-2targetinhibitor8694852 16306812 17139284 11752352 17016423 11117381 17445089
    L-Carnitine(-)-Carnitine (see all 6)541-15-1targetactivator14711372 15647998 16283381 12705401 11752352 16362726

    Selected Novoseek inferred chemical compound relationships for CPT1A gene (see all 37)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carnitine 95.9 308 7619853 (3), 12376098 (3), 16362726 (3), 8262919 (3) (see all 99)
    etomoxir 88.4 14 16225603 (2), 9486313 (1), 1943747 (1), 19336534 (1) (see all 12)
    fatty acid 82.9 110 17179390 (6), 12684219 (2), 9486313 (2), 11934665 (2) (see all 60)
    poca 80.8 3 1994902 (1), 1872864 (1), 18470630 (1)
    malonyl-coa 79.7 9 20392806 (2), 10945143 (2), 12376098 (1), 10329463 (1) (see all 5)
    acyl-coa 79.5 30 18067086 (1), 8450053 (1), 12759900 (1), 14968298 (1) (see all 15)
    palmitate 75.3 26 18561258 (2), 8999842 (2), 1779055 (2), 1930297 (2) (see all 16)
    acetyl-coa 73.4 8 10710500 (2), 14641011 (1), 12476789 (1), 15878185 (1) (see all 7)
    tdga 65.2 2 8262919 (1), 9492379 (1)
    pristanic acid 58.7 1 9469587 (1)



    Find genes that share compounds with CPT1A           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CPT1A gene (2 alternative transcripts): 
    NM_001031847.2  NM_001876.3  

    Unigene Cluster for CPT1A:

    Carnitine palmitoyltransferase 1A (liver)
    Hs.503043  [show with all ESTs]
    Unigene Representative Sequence: NM_001876
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000540367 ENST00000265641(uc001oog.4) ENST00000539743 ENST00000537756
    ENST00000538994 ENST00000565318 ENST00000569129 ENST00000561996 ENST00000376618(uc001oof.4)

    miRNA
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    Block miRNA regulation of human, mouse, rat CPT1A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CPT1A (see all 44):
    hsa-miR-194* hsa-miR-579 hsa-miR-4307 hsa-miR-328 hsa-miR-3152-3p hsa-miR-188-5p hsa-miR-3161 hsa-miR-1276
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): CPT1A 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): CPT1A (NM_001031847)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPT1A
    Primer
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    OriGene qPCR primer pairs and template standards for CPT1A
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CPT1A
      QuantiTect SYBR Green Assays in human, mouse, rat CPT1A
      QuantiFast Probe-based Assays in human, mouse, rat CPT1A

    Additional mRNA sequence: 

    AJ420378.1 AK025307.1 AK172798.1 AK309464.1 AK314301.1 BC000185.1 BT009791.1 L39211.1 

    11 DOTS entries:

    DT.100033677  DT.100748829  DT.307372  DT.120725629  DT.95265656  DT.91733968  DT.100735410  DT.120725649 
    DT.75159631  DT.99971463  DT.99995657 

    Selected AceView cDNA sequences (see all 130):

    BE256807 CA419392 AI924199 BF857449 AJ420378 AU077277 CR599853 BQ022199 
    BQ961859 AW243325 AI494179 CA427728 X83113 AW651761 AU280055 BX280038 
    AL705360 AW302368 BC000185 AI760745 BF001714 BP337832 BE747835 AA632225 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CPT1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAATACAGT
    CPT1A Expression
    About this image


    CPT1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Midbrain tegmentum
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Metencephalon
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Myoblasts Mandibular Arch Muscles
     
     Thymus (Hematopoietic System)
             Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    CPT1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CPT1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.503043

    UniProtKB/Swiss-Prot: CPT1A_HUMAN, P50416
    Tissue specificity: Strong expression in kidney and heart, and lower in liver and skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CPT1A: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CPT1A gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cpt1a1 , 5 carnitine palmitoyltransferase 1a, liver1, 5 81.89(n)1
    86.55(a)1
      19 (3.08 cM)5
    128941  NM_013495.21  NP_038523.21 
     33233015 
    chicken
    (Gallus gallus)
    Aves CPT1A1 carnitine palmitoyltransferase 1A (liver) 73.46(n)
    80.65(a)
      423118  NM_001012898.1  NP_001012916.1 
    lizard
    (Anolis carolinensis)
    Reptilia CPT1A6
    carnitine palmitoyltransferase 1A (liver)
    80(a)
    1 ↔ 1
    1(75886324-75941684)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC534982 similar to carnitine palmitoyltransferase 1 73.74(n)    BC048219.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-236l14.31 si:ch211-236l14.3 68.56(n)
    71.67(a)
      560000  XM_005170707.1  XP_005170764.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CPTI3 carnitine O-palmitoyltransferase 50(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea Y46G5A.173   -- 48(a)
    (best of 5)
      II(12788488-12796026)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CPT1A gene
    CROT2  CPT1C2  CRAT2  CPT1B2  CHAT2  
    4 SIMAP similar genes for CPT1A using alignment to 6 protein entries:     CPT1A_HUMAN (see all proteins):
    CPT1B    CPT1C    CRAT    CROT

    Find genes that share paralogs with CPT1A           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CPT1A (see all 2092)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289363741,2,,4
    CCarnitine palmitoyltransferase 1A deficiency (CPT1AD)4 pathogenic168449983(-) CAGCGA/GAGGGG 4 E G mis1 ese30--------
    VAR_0205464
    Carnitine palmitoyltransferase 1A deficiency (CPT1AD)4--see VAR_0205462 R C mis40--------
    VAR_0467694
    Carnitine palmitoyltransferase 1A deficiency (CPT1AD)4--see VAR_0467692 G W mis40--------
    rs289363721,2,4
    Carnitine palmitoyltransferase 1A deficiency (CPT1AD)4--see VAR_0205512 mis40--------
    VAR_0205564
    Carnitine palmitoyltransferase 1A deficiency (CPT1AD)4--see VAR_0205562 L P mis40--------
    VAR_0205594
    Carnitine palmitoyltransferase 1A deficiency (CPT1AD)4--see VAR_0205592 G E mis40--------
    rs289363731,2,4
    Carnitine palmitoyltransferase 1A deficiency (CPT1AD)4--see VAR_0205532 mis40--------
    VAR_0205484
    Carnitine palmitoyltransferase 1A deficiency (CPT1AD)4--see VAR_0205482 C W mis40--------
    VAR_0205504
    Carnitine palmitoyltransferase 1A deficiency (CPT1AD)4--see VAR_0205502 R W mis40--------
    VAR_0205574
    Carnitine palmitoyltransferase 1A deficiency (CPT1AD)4--see VAR_0205572 Y C mis40--------

    HapMap Linkage Disequilibrium report for CPT1A (68522088 - 68611878 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for CPT1A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2744667CNV Deletion23290073
    esv2664873CNV Deletion23128226
    nsv509422CNV Insertion20534489
    nsv373CNV Loss18451855
    nsv825968CNV Loss20364138
    nsv825967CNV Loss20364138
    nsv428261CNV Gain18775914
    nsv825969CNV Gain20364138

    Human Gene Mutation Database (HGMD): CPT1A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CPT1A
    DNA2.0 Custom Variant and Variant Library Synthesis for CPT1A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600528   
    OMIM disorders: 255120  
    UniProtKB/Swiss-Prot: CPT1A_HUMAN, P50416
  • 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 8 diseases for CPT1A:    
    About MalaCards
    cpt deficiency, hepatic, type ia    carnitine palmitoyltransferase 1a deficiency    carnitine palmitoyltransferase ii deficiency    carnitine-acylcarnitine translocase deficiency
    visceral steatosis    elastosis perforans serpiginosa    peroxisomal disease    fatty acid oxidation disorders

    1 disease from the University of Copenhagen DISEASES database for CPT1A:
    Fatty liver disease

    Find genes that share disorders with CPT1A           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CPT1A gene (see all 22)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carnitine palmitoyltransferase i deficiency 97.7 29 19345525 (3), 10625081 (2), 17160614 (2), 11757589 (2) (see all 19)
    carnitine palmitoyltransferase ii deficiency 73.6 2 18067086 (1), 12828998 (1)
    reye-like syndrome 66.1 1 10407779 (1)
    hypoglycemia 56.6 9 16870691 (1), 11286380 (1), 15669684 (1), 10407779 (1) (see all 7)
    fatty liver 41.6 1 17445541 (1)
    insulin resistance 35.7 9 17445541 (4), 17062841 (2), 19733654 (1), 17828388 (1)
    hepatomegaly 29.5 1 11286380 (1)
    metabolic disorder 27.5 2 17445541 (1), 16958601 (1)
    obesity 26.6 15 17089095 (4), 11052958 (3), 17458181 (3), 16362726 (1) (see all 6)
    myopathy 25.8 1 8370836 (1)

    Genatlas disease: CPT1A
    non ketotic hypoglycemia,infant form,Reye-like syndrome,sudden infant death syndrome

    GeneTests: CPT1A
    GeneReviews: CPT1A
    Genetic Association Database (GAD): CPT1A
    Human Genome Epidemiology (HuGE) Navigator: CPT1A (16 documents)

    Export disorders for CPT1A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CPT1A gene, integrated from 10 sources (see all 273):
    (articles sorted by number of sources associating them with CPT1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene. (PubMed id 7892212)1, 2, 3, 9 Britton C.H....McGarry J.D. (Proc. Natl. Acad. Sci. U.S.A. 1995)
    2. Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal. (PubMed id 14711372)1, 2, 7, 9 Morillas M.... Asins G. (Biochem. J. 2004)
    3. Haplotype analysis of carnitine transporters and left ventricular mass in human essential hypertension. (PubMed id 15647998)1, 4, 7 Tripodi G....Stella P. (J Ren Nutr 2005)
    4. Variants within the muscle and liver isoforms of the carnitine palmitoyltransferase I (CPT1) gene interact with fat intake to modulate indices of obesity in French-Canadians. (PubMed id 17089095)1, 4, 9 Robitaille J....Vohl M.C. (J. Mol. Med. 2007)
    5. Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community. (PubMed id 11350182)1, 2, 9 Prip-Buus C.... Bonnefont J.-P. (Mol. Genet. Metab. 2001)
    6. Lack of association of CPT1A polymorphisms or haplotypes on hepatic lipid content or insulin resistance in Japanese individuals with type 2 diabetes mellitus. (PubMed id 17445541)1, 4, 9 Hirota Y....Kasuga M. (Metab. Clin. Exp. 2007)
    7. Functional and structural basis of carnitine palmitoyltransferase 1A deficiency. (PubMed id 14517221)1, 2, 9 Gobin S.... Prip-Buus C. (J. Biol. Chem. 2003)
    8. Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia. (PubMed id 12189492)1, 2, 9 Gobin S....Thuillier L. (Hum. Genet. 2002)
    9. Molecular basis of hepatic carnitine palmitoyltransferase I deficiency. (PubMed id 9691089)1, 2, 9 IJlst L....Wanders R.J. (J. Clin. Invest. 1998)
    10. Identification of two gene variants associated with risk of advanced fibrosis in patients with chronic hepatitis C. (PubMed id 16697732)1, 4, 9 Huang H....Wright T.L. (Gastroenterology 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1374 HGNC: 2328 AceView: CPT1A Ensembl:ENSG00000110090 euGenes: HUgn1374
    ECgene: CPT1A Kegg: 1374 H-InvDB: CPT1A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CPT1A Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CPT1A[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CPT1A gene:
    Search GeneIP for patents involving CPT1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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