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

CPT1C Gene

protein-coding   GIFtS: 53
GCID: GC19P050195

carnitine palmitoyltransferase 1C
 Explore 7 diseases affiliated with
CPT1C via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CPT1C    

Aliases
for CPT1C 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 1C1 2 3     CPTI-B2 3
CPT1P1 2     EC 2.3.1.213 8
CPTIC1 2     FLJ238091
Carnitine O-Palmitoyltransferase I, Brain Isoform2 3     Carnitine O-Palmitoyltransferase 1, Brain Isoform2
CATL12 3     Carnitine Palmitoyltransferase I Related C2
CPT1-B2 3     CPT IC3

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 GC19P046571


Summaries
for CPT1C 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 CPT1C:
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)




Genomic Views
for CPT1C 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_000019.9  NC_018930.1  NT_011109.16  
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 plasmid: CPT1C 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 GC19P050195:  view genomic region     (about GC identifiers)

Start:
 50,194,373 bp from pter      End:
 50,216,988 bp from pter
Size:
 22,616 bases      Orientation:
 plus strand

Proteins
for CPT1C 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    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: 
     ENSP00000376303   ENSP00000346138   ENSP00000384465   ENSP00000319343   ENSP00000295404  

    Human Recombinant Protein Products for CPT1C: 
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    Uscn Proteins for CPT1C

    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:0005789endoplasmic reticulum membrane ----
    GO:0016021integral to membrane IEA--
    GO:0030054cell junction IEA--

    CPT1C for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for CPT1C gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CPT1C for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000542 Carn_acyl_trans

    Graphical View of Domain Structure for InterPro Entry Q8TCG5

    ProtoNet protein and cluster: Q8TCG5

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

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


    Function
    for CPT1C gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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:
         Mouse knock-outs for CPT1C: Cpt1ctm1Fghe Cpt1ctm1Dhwu Cpt1ctm1Mdln
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CPT1C 

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Pathways & Interactions
    for CPT1C 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 - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1AMPK Enzyme Complex Pathway
    		AMPK Enzyme Complex Pathway1.00
    2AMPK signaling
    		AMPK signaling1.00
    3FOXA2 and FOXA3 transcription factor networks
    		FOXA2 and FOXA3 transcription factor networks1.00
    4PPAR signaling pathway
    		PPAR signaling pathway1.00
    5mitochondrial L-carnitine shuttle pathway
    		mitochondrial L-carnitine shuttle pathway1.00

    Pathway sources
    See GeneCards unified pathways
    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 metabolism
    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): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006635fatty acid beta-oxidation IEA--
    GO:0009437carnitine metabolic process ----

    CPT1C for ontologies           About GeneDecksing



    Drugs & Compounds
    for CPT1C 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
    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 

    Transcripts
    for CPT1C 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, Sirion Biotech, 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 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
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392518(uc002ppl.4 uc002ppi.3 uc002ppk.3 uc010eng.3 uc010enh.3 uc002ppj.3)
    ENST00000354199 ENST00000405931 ENST00000323446(uc010eni.1) ENST00000295404(uc010ybc.1)


    miRNA
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CPT1C (see all 7)
    OriGene shRNA RFP: CPT1C
    OriGene siRNA: CPT1C
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    Sirion Biotech Custom design and validation of potent shRNA sequences against CPT1C 
    Clone
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    Primer
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    Additional cDNA 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):

    BM694068 BI918290 BQ447026 BM704619 BF983189 AK074389 AL831876 AF357970 
    AK096516 CF529663 BU730685 BC029104 BX281684 BU732463 BM709316 AL565745 
    NM_152359 BP365756 BI770315 BM550377 AA298393 AA149526 BI916018 AA662256 

    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

    Expression
    for CPT1C 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

    CPT1C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATCACCTTCC
    CPT1C Expression
    About this image

    CPT1C expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainCerebral CortexBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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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    In Situ
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPT1C

    Orthologs
    for CPT1C 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 CPT1C gene from 5/19 species (see all 19)    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 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 57(a)
    		 1 ↔ 1
    		 6(80276744-80296806)
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc:1124846
    CABZ01055343.26
    		 --
    		 53(a)
    53(a)
    		 many → 1
    many → 1
    		 3(32362282-32427072)
    24(38364589-38382913)
    fruit fly
    (Drosophila melanogaster)    		 Insecta whd6
    		 withered
    		 42(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)
    32(a)
    (see all 6)    		 many → 1
    possible ortholog
    (see all 6)    		 II(12787760-12796389)
    V(147526-152104)


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

    Paralogs
    for CPT1C gene

    (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



    Genomic Variants
    for CPT1C 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

    10/566 NCBI SNPs in CPT1C are shown (see all 566)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1915418671,2
    		--50192424(+) CACTCA/GACCTG 5 -- ut51 us2k10--------
    rs607303551,2
    		--50192466(+) CCCTGG/TCTACA 5 -- ut51 us2k10--------
    rs612017941,2
    		C,F--50192467(+) CCTGGC/TTACAC 5 -- ut51 us2k11Minor allele frequency- T:0.03WA 118
    rs1838792461,2
    		--50192534(+) TCTTCC/TGGAGG 5 -- us2k1 ut510--------
    rs104256881,2
    		C,F,H--50192640(+) GGGTCT/CCAACT 5 -- ut51 us2k125Minor allele frequency- C:0.00NS EA NA WA CSA 1605
    rs1893269531,2
    		--50192822(+) TCCTAA/GGGGGA 5 -- ut51 us2k10--------
    rs750833241,2
    		F--50192847(+) TGTGAC/GCCCAC 5 -- us2k1 ut511Minor allele frequency- G:0.04WA 118
    rs1819486961,2
    		--50192879(+) GCCGCA/GGTGCG 5 -- us2k1 ut510--------
    rs2016470051,2
    		--50193082(+) TGACCA/CGCCCT 5 -- us2k1 ut510--------
    rs744994471,2
    		C--50193771(+) ACACGA/GGACCA 5 -- us2k1 ut310--------

    HapMap Linkage Disequilibrium report for CPT1C (50194373 - 50216988 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for CPT1C
         5 CNVs: 2246 5112 9803 5113 32261
         1 Inversion: 37206

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    Disorders / Diseases
    for CPT1C gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CPT1C for disorders           About GeneDecksing

    OMIM gene information: 608846    OMIM disorders: --

    7 diseases for CPT1C:    About MalaCards
    acyl-coa dehydrogenase    peripheral neuropathy    multiple myeloma    neuropathy
    myeloma    melanoma    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: CPT1C (4 documents)

    Export disorders for CPT1C gene to outside databases

    Publications
    for CPT1C 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 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. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Genomics of the human carnitine acyltransferase genes. (PubMed id 11001805)1, 3 van der Leij F.R....Bartelds B. (2000)
    5. 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)
    6. 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)
    7. 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)
    8. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    9. 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)
    10. 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 Bailey S.D....Anand S. (2010)

    External Searches for CPT1C gene

    (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)

    Genome Databases showing CPT1C gene

    (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

    Other Databases showing CPT1C gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CPT1C 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 CPT1C Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for CPT1C gene

    (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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