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

CPT1C Gene

protein-coding   GIFtS: 54
GCID: GC19P050199

Carnitine Palmitoyltransferase 1C

Microbiology & Infectious Diseases Congress
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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 1C1 2 3     CPT1P2
Carnitine O-Palmitoyltransferase I, Brain Isoform2 3     CPTIC2
CATL12 3     Carnitine O-Palmitoyltransferase 1, Brain Isoform2
CPT1-B2 3     Carnitine Palmitoyltransferase I Related C2
CPTI-B2 3     CPT IC3
EC 2.3.1.213 8     

External Ids:    HGNC: 185401   Entrez Gene: 1261292   Ensembl: ENSG000001691697   OMIM: 6088465   UniProtKB: Q8TCG53   

Export aliases for CPT1C gene to outside databases

Previous GC identifers: GC19P050852 GC19P050562 GC19P054870 GC19P054886 GC19P050195 GC19P046571


(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 CPT1C Gene:
This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the
beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation
of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding
multiple protein isoforms have been observed for this gene. (provided by RefSeq, Dec 2010)

GeneCards Summary for CPT1C Gene: 
CPT1C (carnitine palmitoyltransferase 1C) is a protein-coding gene. Diseases associated with CPT1C include peripheral neuropathy, and multiple myeloma, and among its related super-pathways are Fatty Acid Beta Oxidation. GO annotations related to this gene include carnitine O-palmitoyltransferase activity. An important paralog of this gene is CROT.




(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_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CPT1C gene promoter:
         AP-1   p53   ATF-2   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCPT1C promoter sequence
   Search SABiosciences Chromatin IP Primers for CPT1C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CPT1C


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

Entrez Gene cytogenetic band: 19q13.33   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.33

CPT1C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CPT1C gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P050199:  view genomic region     (about GC identifiers)

Start:
50,194,155 bp from pter      End:
50,216,988 bp from pter
Size:
22,834 bases      Orientation:
plus 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: CPT1C_HUMAN, Q8TCG5 (See protein sequence)
Recommended Name: Carnitine O-palmitoyltransferase 1, brain isoform  
Size: 803 amino acids; 90989 Da
Subunit: Peripherally associated with AMPAR complex. AMPAR complex consists of an inner core made of 4
pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a
twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2,
CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is
complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the
interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2,
CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more
peripherally associated AMPAR constituents, including CPT1C. Alone or in combination, these auxiliary subunits
control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein
processing (By similarity)
Subcellular location: Mitochondrion outer membrane; Multi-pass membrane protein (By similarity). Cell junction,
synapse (By similarity)
Sequence caution: Sequence=BAB85068.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAD38561.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A8K0Z8 Q5K6N5 Q8N6Q9 Q8NDS6 Q8TE84
Alternative splicing: 3 isoforms:  Q8TCG5-1   Q8TCG5-2   Q8TCG5-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CPT1C: NX_Q8TCG5

Explore proteomics data for CPT1C at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8TCG5

  • 4/5 DME Specific Peptides for CPT1C (Q8TCG5) (see all 5)
     DRHLFAL  RWFDKSF  YLESVRP  FNTTRIPG 

    CPT1C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CPT1C Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001129524.1  NP_001186681.1  NP_001186682.1  NP_689572.1  

    ENSEMBL proteins: 
     ENSP00000471160   ENSP00000319343   ENSP00000472742   ENSP00000376303   ENSP00000470221  
     ENSP00000473028   ENSP00000384465   ENSP00000470739   ENSP00000472828   ENSP00000471579  
     ENSP00000472453   ENSP00000473082   ENSP00000472579   ENSP00000471841   ENSP00000346138  

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    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 ----
    GO:0005741mitochondrial outer membrane IEA--
    GO:0016021integral to membrane ----
    GO:0030054cell junction IEA--
    GO:0032281alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex IEA--

    CPT1C for ontologies           About GeneDecksing



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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 Q8TCG5

    ProtoNet protein and cluster: Q8TCG5

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

    UniProtKB/Swiss-Prot: CPT1C_HUMAN, Q8TCG5
    Similarity: Belongs to the carnitine/choline acetyltransferase family


    CPT1C 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: CPT1C_HUMAN, Q8TCG5
    Catalytic activity: Palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine

         Enzyme Number (IUBMB): EC 2.3.1.211 2

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004095carnitine O-palmitoyltransferase activity IEA--
    GO:0016746transferase activity, transferring acyl groups ----
         
    CPT1C for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Cpt1c):
     behavior/neurological  growth/size  homeostasis/metabolism  liver/biliary system  muscle 
     nervous system 

    CPT1C for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CPT1C: Cpt1ctm1Fghe Cpt1ctm1Dhwu Cpt1ctm1Mdln

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CPT1C 
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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 CPT1C About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Fatty Acid Beta Oxidation
    Fatty acid degradation0.32
    2PPAR signaling pathway
    PPAR signaling pathway
    3FOXA2 and FOXA3 transcription factor networks
    FOXA2 and FOXA3 transcription factor networks
    4Adipocytokine signaling pathway
    Adipocytokine signaling pathway
    5AMPK signaling
    AMPK signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for CPT1C
        AMPK Enzyme Complex Pathway

    3 BioSystems Pathways for CPT1C
        AMPK signaling
    mitochondrial L-carnitine shuttle pathway
    FOXA2 and FOXA3 transcription factor networks


    3         Kegg Pathways  (Kegg details for CPT1C):
        Fatty acid degradation
    PPAR signaling pathway
    Adipocytokine signaling pathway

    UniProtKB/Swiss-Prot: CPT1C_HUMAN, Q8TCG5
    Pathway: Lipid metabolism; fatty acid beta-oxidation


    CPT1C for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CPT1C

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/16 Interacting proteins for CPT1C (ENSP000003193434) via UniProtKB, MINT, STRING, and/or I2D (see all 16)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACSL3ENSP000003500124STRING: ENSP00000350012
    CPT1AENSP000002656414STRING: ENSP00000265641
    CPT1BENSP000003121894STRING: ENSP00000312189
    ACADLENSP000002337104STRING: ENSP00000233710
    ACADMENSP000004096124STRING: ENSP00000409612
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006635fatty acid beta-oxidation IEA--

    CPT1C 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CPT1C

    1 HMDB Compound for CPT1C    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Carnitine(-)-(R)-3-Hydroxy-4-(trimethylammonio)butyrate (see all 33)541-15-1--

    Search CenterWatch for drugs/clinical trials and news about CPT1C

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CPT1C gene (4 alternative transcripts): 
    NM_001136052.2  NM_001199752.1  NM_001199753.1  NM_152359.2  

    Unigene Cluster for CPT1C:

    Carnitine palmitoyltransferase 1C
    Hs.112195  [show with all ESTs]
    Unigene Representative Sequence: NM_001199752
    18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000594038 ENST00000323446(uc010eni.1) ENST00000598259 ENST00000599023
    ENST00000392518(uc002ppl.4 uc002ppi.3 uc002ppk.3 uc010eng.3 uc010enh.3 uc002ppj.3)
    ENST00000598396 ENST00000598293 ENST00000598714 ENST00000405931 ENST00000600944
    ENST00000596922 ENST00000602019 ENST00000594587 ENST00000595969 ENST00000595568
    ENST00000295404(uc010ybc.1) ENST00000596701 ENST00000594431
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF357970.1 AK074389.1 AK096516.1 AK289713.1 AK290092.1 AK299866.1 AL831876.1 BC029104.1 

    15 DOTS entries:

    DT.100777715  DT.97842246  DT.100777716  DT.40211127  DT.100801758  DT.121443861  DT.121443719  DT.121443765 
    DT.40131985  DT.411382  DT.92418963  DT.102828642  DT.65284177  DT.91651961  DT.95270623 

    24/94 AceView cDNA sequences (see all 94):

    BC029104 BQ447026 CF529663 BU730685 AL565745 BU732463 BX281684 AK096516 
    BF983189 BM704619 AF357970 BM694068 BI918290 NM_152359 AL831876 AK074389 
    BM709316 BI552759 BX418313 BI770315 AA662256 AL535025 BE780927 BI915869 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for CPT1C (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^
    SP1:                    -     -           -     -     -                                                           -                                             
    SP2:                    -     -     -           -     -           -                                               -           -                                 
    SP3:                    -     -     -     -     -     -           -                                               -                                             
    SP4:                                      -     -     -           -                                                                                             
    SP5:                                                                                                                                                            

    ExUns: 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b · 20c ^ 21a · 21b · 21c ^ 22a · 22b · 22c · 22d
    SP1:                          -           -     -           -                                       
    SP2:                          -           -     -           -                 -                     
    SP3:                          -           -     -           -                 -                     
    SP4:                                                                                                
    SP5:                                      -     -           -                 -                     


    ECgene alternative splicing isoforms for CPT1C

    (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

    CPT1C expression in normal human tissues (normalized intensities)      CPT1C embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCACCTTCC
    CPT1C Expression
    About this image


    CPT1C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
             ganglion/cranial   
     
     Intestine (Gastrointestinal Tract)
             SMALL INTESTINE   
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Peripheral Nervous System (Nervous System)

     -- (Nervous System)
             mouse/organ system/nervous system/central nervous system   

    See CPT1C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CPT1C

    SOURCE GeneReport for Unigene cluster: Hs.112195

    UniProtKB/Swiss-Prot: CPT1C_HUMAN, Q8TCG5
    Tissue specificity: Expressed predominantly in brain and testis

        SABiosciences Expression via Pathway-Focused PCR Array including CPT1C: 
              Fatty Acid Metabolism in human mouse rat

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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 CPT1C gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cpt1c1 , 5 carnitine palmitoyltransferase 1c1, 5 81.72(n)1
    83.94(a)1
      7 (29.07 cM)5
    780701  NM_001252470.11  NP_001239399.11 
     449593735 
    fruit fly
    (Drosophila melanogaster)
    Insecta whd6
    withered
    43(a)
    1 → many
    2R(6356978-6366073)
    worm
    (Caenorhabditis elegans)
    Secernentea cpt-16
    W03F9.46
    (see all 6)
    Protein W03F9.4
    (see all 6)
    40(a)
    34(a)
    (see all 6)
    many → 1
    possible ortholog
    (see all 6)
    II(12787830-12796458)
    V(147526-152104)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CAT26
    Carnitine acetyl-CoA transferase present in both m...
    23(a)
    1 → many
    XIII(192788-194800)


    ENSEMBL Gene Tree for CPT1C (if available)
    TreeFam Gene Tree for CPT1C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CPT1C gene
    CROT2  CRAT2  CPT1B2  CPT1A2  CHAT2  
    3 SIMAP similar genes for CPT1C using alignment to 10 protein entries:     CPT1C_HUMAN (see all proteins):
    CPT1A    CPT1B    CRAT

    CPT1C 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

    10/685 SNPs in CPT1C are shown (see all 685)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs8921501,2
    C,F--50194778(-) CCCCCC/GGCCCG 4 -- int1 trp35Minor allele frequency- G:0.18EA NA MN WA 356
    rs1851232291,2
    --50194793(+) GACGCC/TGAGCG 4 -- int10--------
    rs1404239541,2
    --50194833(+) CTTGGC/TATGAA 4 -- int10--------
    rs8921491,2
    C,F,O,A,H--50194845(-) CCATTG/TCCGCT 4 -- int121Minor allele frequency- T:0.30EA NA NS WA CSA 2398
    rs1907195961,2
    --50195000(+) CACTGA/CCCCCG 4 -- int10--------
    rs1834535111,2
    --50195071(+) ATGCGG/TTCCCA 4 -- int10--------
    rs1886230691,2
    --50195185(+) CCTGGG/TTCGGC 4 -- int1 ut510--------
    rs1126316921,2
    C,F--50195239(+) GAGGGG/ACTGGG 4 -- int11Minor allele frequency- A:0.50WA 2
    rs1917283421,2
    --50195279(+) GGCTGA/GGGGCC 4 -- int10--------
    rs1157511011,2
    C,F--50195455(+) AGGGCG/AGAGGG 4 -- int14Minor allele frequency- A:0.08WA NA EA EU 685

    HapMap Linkage Disequilibrium report for CPT1C (50194155 - 50216988 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for CPT1C (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1209349CNV Insertion17803354
    esv1580543CNV Insertion17803354
    nsv912269CNV Loss21882294
    dgv3972n71CNV Loss21882294
    nsv470150CNV Gain18288195
    nsv833864CNV Gain17160897
    nsv817854CNV Gain17921354
    nsv9739CNV Gain+Loss18304495
    nsv833865CNV Gain+Loss17160897
    nsv469715CNV Complex16826518

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608846    OMIM disorders: --

    6 diseases for CPT1C:    About MalaCards
    peripheral neuropathy    multiple myeloma    neuropathy    myeloma
    melanoma    neuronitis


    CPT1C for disorders           About GeneDecksing

    Genetic Association Database (GAD): CPT1C
    Human Genome Epidemiology (HuGE) Navigator: CPT1C (4 documents)

    Export disorders for CPT1C 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 CPT1C gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with CPT1C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel brain-expressed protein related to carnitine palmitoyltransferase I. (PubMed id 12376098)1, 2, 3 Price N.... Zammit V. (2002)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Genomics of the human carnitine acyltransferase genes. (PubMed id 11001805)1, 3 van der Leij F.R....Bartelds B. (2000)
    7. The CPT1C 5'UTR contains a repressing upstream open re ading frame that is regulated by cellular energy availability and AMPK. (PubMed id 21961029)1 Lohse I....Zaugg K. (2011)
    8. Carnitine palmitoyltransferase 1C promotes cell survi val and tumor growth under conditions of metabolic stress. (PubMed id 21576264)1 Zaugg K....Mak T.W. (2011)
    9. Regulatory enzymes of mitochondrial beta-oxidation as targets for treatment of the metabolic syndrome. (PubMed id 19694967)1 Schreurs M....van der Leij F.R. (2010)
    10. Mechanisms of peripheral neuropathy associated with b ortezomib and vincristine in patients with newly diagnosed multiple myeloma: a prospective analysis of data from the HOVON-65/GMMG-HD4 trial. (PubMed id 20864405)1 Broyl A....Sonneveld P. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 126129 HGNC: 18540 AceView: CPT1C Ensembl:ENSG00000169169 euGenes: HUgn126129
    ECgene: CPT1C Kegg: 126129 H-InvDB: CPT1C

    (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 CPT1C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CPT1C gene:
    Search GeneIP for patents involving CPT1C

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



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