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

CPT1A Gene

protein-coding   GIFtS: 69
GCID: GC11M068524

Carnitine Palmitoyltransferase 1A (Liver)


(Previous symbol: CPT1)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 carnitine palmitoyltransferase 1a deficiency, and cpt deficiency, hepatic, type ia, and among its related super-pathways are Fatty Acid Beta Oxidation and Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  NC_018922.2  
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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for CPT1A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CPT1A Protein Expression
    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
    Human Recombinant Protein Products for CPT1A: 
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    Cloud-Clone Corp. 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:0016021integral to membrane ----
    GO:0031307integral to mitochondrial outer membrane ISS--

    CPT1A for ontologies           About GeneDecksing



    CPT1A Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    CPT1A for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (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


    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 

    CPT1A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cpt1atm1Pwo for CPT1A

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    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
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CPT1A About   (see all 15)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Fatty Acid Beta Oxidation
    Fatty Acid Beta Oxidation0.35
    Fatty acid degradation0.32
    Mitochondrial LC-Fatty Acid Beta-Oxidation0.35
    2Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.74
    Fatty acid, triacylglycerol, and ketone body metabolism0.52
    PPARA Activates Gene Expression0.74
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    4Development Leptin signaling via PI3K-dependent pathway
    Development Leptin signaling via PI3K-dependent pathway1.00
    5Circadian Clock
    Circadian Clock0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    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)
        AMPK signaling
    SIDS Susceptibility Pathways
    Fatty Acid Beta Oxidation
    mitochondrial L-carnitine shuttle pathway
    FOXA2 and FOXA3 transcription factor networks

    5/8        Reactome Pathways for CPT1A (see all 8)
        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 degradation
    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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 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)

    Search CenterWatch for drugs/clinical trials and news about CPT1A

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    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
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000540367 ENST00000265641(uc001oog.4) ENST00000539743 ENST00000537756
    ENST00000538994 ENST00000565318 ENST00000569129 ENST00000561996 ENST00000376618(uc001oof.4)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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 

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

    BE256807 AU077277 BQ022199 BF857449 CR599853 AL705360 BQ961859 BX280038 
    AI494179 AW651761 AW243325 AW302368 CA427728 AI924199 X83113 BC000185 
    CA419392 AJ420378 AU280055 AA632225 BF899488 BG388366 BM041193 CA393540 

    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™, 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)      CPT1A embryonic expression: see
    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 
     5/32 selected tissues (see all 32) fully expand
     
     Brain (Nervous System)    fully expand to see all 21 entries
             Thalamus
             Olfactory Bulb   
     
     Neural Tube (Nervous System)    fully expand to see all 7 entries
             Telencephalon
             spinal cord/lateral wall/mantle layer   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 5 entries
             colon ; endothelial cells   
             colonic mucosal (ibs)   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Myoblasts Hyoid Arch Muscles
             skeletal muscle ; myocytes   
     
     Spinal Cord (Nervous System)    fully expand to see all 4 entries
             Dorsal Horn   

    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: 
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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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for CPT1A gene from 8/18 species (see all 18)    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
    --
    Uncharacterized protein
    80(a)
    66(a)
    1 ↔ 1
    possible ortholog
    1(75886324-75941684)
    6(80273467-80296806)
    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 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CAT26
    Carnitine acetyl-CoA transferase present in both m...
    25(a)
    1 → many
    XIII(192788-194800)


    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)
    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



    (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) 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

    10/2092 SNPs in CPT1A are shown (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
    ----------
    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--------
    VAR_0205514
    Carnitine palmitoyltransferase 1A deficiency (CPT1AD)4--see VAR_0205512 E G 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--------
    VAR_0205534
    Carnitine palmitoyltransferase 1A deficiency (CPT1AD)4--see VAR_0205532 A V 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--------
    VAR_0467684
    Carnitine palmitoyltransferase 1A deficiency (CPT1AD)4--see VAR_0467682 F V 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/40 diseases for CPT1A (see all 40):    About MalaCards
    carnitine palmitoyltransferase 1a deficiency    cpt deficiency, hepatic, type ia    carnitine palmitoyltransferase ii deficiency    visceral steatosis
    carnitine-acylcarnitine translocase deficiency    peroxisomal disease    fatty acid oxidation disorders    alveolar rhabdomyosarcoma
    renal tubular acidosis    hypoglycemia    sudden infant death syndrome    ischemic heart disease
    congestive heart failure    metabolic disorders    hyperglycemia    fatty liver disease
    pre-eclampsia    insulin resistance    hepatitis c    eclampsia

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

    CPT1A for disorders           About GeneDecksing

    10/22 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)
    About This Section

    PubMed articles for CPT1A gene, integrated from 9 sources (see all 269):
    (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. 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. (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. (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. (2007)
    7. Functional and structural basis of carnitine palmitoyltransferase 1A deficiency. (PubMed id 14517221)1, 2, 9 Gobin S.... Prip-Buus C. (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. (2002)
    9. Molecular basis of hepatic carnitine palmitoyltransferase I deficiency. (PubMed id 9691089)1, 2, 9 IJlst L....Wanders R.J. (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. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 1374 HGNC: 2328 AceView: CPT1A Ensembl:ENSG00000110090 euGenes: HUgn1374
    ECgene: CPT1A Kegg: 1374 H-InvDB: CPT1A

    (According to HUGE)
    About This Section
      --

    (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

    (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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