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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CPT1A Gene

protein-coding   GIFtS: 68
GCID: GC11M068524

carnitine palmitoyltransferase 1A (liver)


(Previous symbol: CPT1)
 Explore 44 diseases affiliated with
CPT1A via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CPT1A    

Aliases
for CPT1A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Carnitine Palmitoyltransferase 1A (Liver)1 2     CPT I2 3
CPT11 2 3     EC 2.3.1.213 8
CPT1-L1 2 3     Carnitine O-Palmitoyltransferase 1, Liver Isoform2
L-CPT11 2     Carnitine Palmitoyltransferase I, Liver2
Carnitine O-Palmitoyltransferase I, Liver Isoform2 3     Carnitine Palmitoyltransferase 1A3
CPTI-L2 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


Summaries
for CPT1A gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CPT1A:
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)

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




Genomic Views
for CPT1A gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CPT1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for CPT1A gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Mitochondrion outer membrane; Multi-pass membrane protein
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P50416

    • 4/15 DME Specific Peptides for CPT1A (P50416) (see all 15)
     EVLSEPW  MSSQTKN  RWFDKSF  YRLAMTG 

    CPT1A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000439084   ENSP00000446042   ENSP00000446108   ENSP00000454332   ENSP00000457826  
     ENSP00000455116   ENSP00000457663   ENSP00000365803   ENSP00000265641  
    Reactome Protein details: P50416
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein: CPT1A
    OriGene Protein Over-expression Lysate (see all 3): CPT1A
    OriGene Custom Protein Services for CPT1A 
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    Novus Biologicals CPT1A Proteins
    Novus Biologicals CPT1A Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CPT1A

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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:0005792microsome ----
    GO:0016021integral to membrane ----


    CPT1A for ontologies           About GeneDecksing



    CPT1A Antibody Products: 
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    Uscn ELISAs and CLIAs for CPT1A

    Protein Domains /
    Families
    for CPT1A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CPT1A for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000542 Carn_acyl_trans

    Graphical View of Domain Structure for InterPro Entry P50416

    ProtoNet protein and cluster: P50416

    1 Blocks protein family: 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


    Function
    for CPT1A gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    hsa-mir-370 (MIRT004535)

    OriGene 3'-UTR Clone (see all 2): CPT1A
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CPT1A
    8/44 QIAGEN miScript miRNA 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
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CPT1A (see all 7)
    OriGene shRNA RFP: CPT1A
    OriGene siRNA: CPT1A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CPT1A

    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CPT1A (see all 4)
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    GenScript: all cDNA clones in your preferred vector (see all 2): CPT1A (NM_001031847)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPT1A 

    Cell Line
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    Search LifeMap BioReagents cell lines for CPT1A

    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPT1A

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    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--


    CPT1A for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Cpt1atm1Pwo for CPT1A
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cpt1a):
     homeostasis/metabolism  mortality/aging  other 

    CPT1A for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CPT1A gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/14 super-pathways (see all 14) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    		Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)1.00
    		Fatty acid, triacylglycerol, and ketone body metabolism0.52
    		PPARA Activates Gene Expression0.74
    2Fatty Acid Beta Oxidation
    		Fatty Acid Beta Oxidation1.00
    		Fatty acid metabolism0.32
    		Mitochondrial LC-Fatty Acid Beta-Oxidation0.35
    3Development_Leptin signaling via PI3K-dependent pathway
    		Development Leptin signaling via PI3K-dependent pathway1.00
    		Adipocytokine signaling pathway0.29
    		Development_Leptin signaling via PI3K-dependent pathway1.00
    4Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    5mitochondrial L-carnitine shuttle pathway
    		mitochondrial L-carnitine shuttle pathway1.00
    		Expression of CPT1A0.33

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for CPT1A
        Development Leptin signaling via PI3K-dependent pathway

    1 Downloadable PowerPoint Slide of QIAGEN 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

    5/6 BioSystems Pathways for CPT1A (see all 6) 
        SIDS Susceptibility Pathways
    AMPK signaling
    mitochondrial L-carnitine shuttle pathway
    Fatty Acid Beta Oxidation
    Mitochondrial LC-Fatty Acid Beta-Oxidation

    5/9        Reactome Pathways for CPT1A (see all 9)
        Circadian Clock
    Metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Import of palmitoyl-CoA into the mitochondrial matrix


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

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


    CPT1A for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CPT1A

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

    5/43 Interacting proteins for CPT1A (P504163 ENSP000002656414) via UniProtKB, MINT, STRING, and/or I2D (see all 43)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCL2P104153, ENSP000003296234I2D: score=2 STRING: ENSP00000329623
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    CLN3Q132863, ENSP000003530734I2D: score=2 STRING: ENSP00000353073
    MAPK3P273613I2D: score=1 
    ACADLENSP000002337104STRING: ENSP00000233710
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    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--


    CPT1A for ontologies           About GeneDecksing



    Drugs & Compounds
    for CPT1A gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CPT1A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CPT1A

    10/123 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

    10/37 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about CPT1A 

    Transcripts
    for CPT1A gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000540367 ENST00000538308 ENST00000539743 ENST00000537756 ENST00000538994
    ENST00000565318 ENST00000569129 ENST00000561996 ENST00000376618(uc001oof.4)
    ENST00000265641(uc001oog.4)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CPT1A
    8/44 QIAGEN miScript miRNA 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
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CPT1A (see all 7)
    OriGene shRNA RFP: CPT1A
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CPT1A
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CPT1A
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    Additional cDNA 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 

    24/130 AceView cDNA sequences (see all 130):

    AJ420378 AU280055 AL705360 AU077277 BE256807 X83113 AW243325 BQ022199 
    BF857449 CR599853 CA419392 AI494179 AI924199 CA427728 AW651761 BX280038 
    BC000185 AW302368 BQ961859 BP359537 BF057781 AW063895 BX492157 AI760745 

    GeneLoc Exon Structure


    Expression
    for CPT1A gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CPT1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAATACAGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CPT1A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbForelimb MyotomeLimb Muscle Progenitor CellsSkeletal Muscle
    Skeletal MuscleHyoid Arch MusclesMyoblastsSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMyoblastsSkeletal Muscle
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    BrainChoroid PlexusBrain
    BrainMedulla OblongataBrain
    Neural TubeMesencephalic Ventricular ZoneNeural Tube
    Neural TubeMetencephalonNeural Tube
    Spinal CordPresumptive Spinal CordSpinal Cord
    Spinal CordSpinal Ventral ColumnsSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Matrigel embedded cells (Derivation of cardio...)

    See CPT1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CPT1A

    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

        SABiosciences Expression via Pathway-Focused 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

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    Orthologs
    for CPT1A gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for CPT1A gene from 6/24 species (see all 24)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 80(a)
    		 1 ↔ 1
    		 1(75890597-75922749)
    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 68.48(n)
    71.5(a)    		   560000  XM_002666847.2  XP_002666893.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CPTI3
    whd1    		 carnitine O-palmitoyltransferase3
    withered1    		 50(a)3
    55.36(n)1
    51.92(a)1    		   361091  NM_001169640.11  NP_001163111.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea Y46G5A.173
    cpt-11    		 Protein CPT-11 48(a)
    (best of 5)3
    51.6(n)1
    46.38(a)1    		   II(12788488-12796026)3
    1749121  NM_064320.21  NP_496721.21 


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

    Paralogs
    for CPT1A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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

    CPT1A for paralogs           About GeneDecksing



    Genomic Variants
    for CPT1A gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1711 NCBI SNPs in CPT1A are shown (see all 1711)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs803567741,2
    		Cpathogenic65894522(-) CCAGCC/TAGACG 4 Q * stg10--------
    rs22297381,2
    		C,F,H,pathogenic65907268(-) GCAACA/C/GCCATC 6 T P A mis121NA NS EA CSA EU 8042
    rs803567771,2
    		Cpathogenic65917220(-) AGCCCC/TGGGAG 4 R W mis10--------
    rs803567871,2
    		Cpathogenic65917230(-) GATGGA/GGCAGC 4 E G mis10--------
    rs803567901,2
    		Cpathogenic65920247(-) GAAAGC/TAGCGT 4 A V mis10--------
    rs803567781,2
    		Cpathogenic65921392(-) GTTTGA/GCAAGT 4 D G mis10--------
    rs803567911,2
    		Cpathogenic65926658(-) GGGCTA/GTGCGG 4 Y C mis10--------
    rs289363741,2
    		Cpathogenic65941808(-) CAGCGA/GAGGGG 4 E G mis1 ese30--------
    rs803567801,2
    		Cpathogenic65941811(-) CGGAGA/GGGGCT 4 E G mis10--------
    rs1127050381,2
    		--64858335(+) TTGAGC/TATCTT 2 -- ds5001 ut311Minor allele frequency- T:0.50CSA 2

    HapMap Linkage Disequilibrium report for CPT1A (68522088 - 68611878 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CPT1A: --
    Human Gene Mutation Database (HGMD): CPT1A

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CPT1A

    Disorders / Diseases
    for CPT1A gene

    (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.)
    About This Section
    CPT1A for disorders           About GeneDecksing

    OMIM gene information: 600528   
    OMIM disorders: 255120  
    UniProtKB/Swiss-Prot: CPT1A_HUMAN, P50416
  • Defects in CPT1A are the cause of carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]; also
    • known as CPT-I deficiency or CPT1A deficiency. CPT1AD is a 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

    20/44 diseases for CPT1A (see all 44):    About MalaCards
    carnitine-acylcarnitine translocase deficiency    cpt deficiency, hepatic, type ia    carnitine palmitoyltransferase ia deficiency    acyl-coa dehydrogenase
    cpt deficiency    fatty acid oxidation disorders    sudden infant death syndrome    visceral steatosis
    renal tubular acidosis    pre-eclampsia    type 2 diabetes mellitus    congestive heart failure
    carnitine deficiency    diabetes mellitus    insulin resistance    metabolic disorders
    ischemic heart disease    fatty liver disease    peroxisomal disease    hepatitis c

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

    10/22 Novoseek 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
    Carnitine Palmitoyltransferase IA Deficiency

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

    Export disorders for CPT1A gene to outside databases

    Publications
    for CPT1A gene

    (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)
    About This Section

    PubMed articles for CPT1A gene, integrated from 9 sources (see all 262):
    (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. (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. (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. (2005)
    4. 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. (2001)
    5. Functional and structural basis of carnitine palmitoyltransferase 1A deficiency. (PubMed id 14517221)1, 2, 9 Gobin S.... Prip-Buus C. (2003)
    6. 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. (2002)
    7. Molecular basis of hepatic carnitine palmitoyltransferase I deficiency. (PubMed id 9691089)1, 2, 9 IJlst L....Wanders R.J. (1998)
    8. An intronic peroxisome proliferator-activated receptor-binding sequence mediates fatty acid induction of the human carnitine palmitoyltransferase 1A. (PubMed id 16271724)1, 2, 9 Napal L....Haro D. (2005)
    9. Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation. (PubMed id 15669684)1, 2, 9 Stoler J.M.... Shih V.E. (2004)
    10. Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme. (PubMed id 11441142)1, 2, 9 Brown N.F.... Cohen J.C. (2001)

    External Searches for CPT1A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CPT1A gene

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

    Other Databases showing CPT1A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CPT1A gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CPT1A Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CPT1A

    Intellectual Property
    for CPT1A gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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