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CPT1C Gene

protein-coding   GIFtS: 52
GCID: GC19P050207

Carnitine Palmitoyltransferase 1C

  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)
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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 GC19P050199


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for 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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NT_011109.17  NC_018930.2  
Regulatory elements:
   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 Chromatin IP Primers for CPT1C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC19P050207:  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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: 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)
Sequence caution: Sequence=BAB85068.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAD38561.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for CPT1C:
2M76 (3D)    
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

Selected DME Specific Peptides for CPT1C (Q8TCG5) (see all 5)
 DRHLFAL  RWFDKSF  YLESVRP  FNTTRIPG 


See CPT1C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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  

CPT1C Human Recombinant Protein Products:

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Novus Biologicals CPT1C Protein
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Cloud-Clone Corp. Proteins for CPT1C

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CPT1C Assay Products:

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Cloud-Clone Corp. ELISAs for CPT1C
Cloud-Clone Corp. CLIAs for CPT1C


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

Graphical View of Domain Structure for InterPro Entry 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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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:    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/body  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: Let us create your new Knockout/Knockin mouse model for CPT1C
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CPT1C

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CPT1C
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CPT1C

miRNA
Products:
    
miRTarBase miRNAs that target CPT1C:
hsa-mir-615-3p (MIRT040222)

Block miRNA regulation of human, mouse, rat CPT1C using miScript Target Protectors
Search for qRT-PCR Assays for microRNAs that regulate CPT1C
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Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat CPT1C

Gene Editing
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DNA2.0 Custom Protein Engineering Service for CPT1C

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OriGene ORF clones in mouse, rat for CPT1C
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 4): CPT1C (NM_001136052)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for CPT1C
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPT1C

Cell Line
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Browse ESI BIO Cell Lines and PureStem Progenitors for CPT1C 
In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPT1C


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
CPT1C_HUMAN, Q8TCG5: Mitochondrion outer membrane; Multi-pass membrane protein (By similarity). Cell junction,
synapse (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion5
peroxisome2

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion ----
GO:0005741mitochondrial outer membrane IEA--
GO:0005789endoplasmic reticulum membrane IEA--
GO:0030054cell junction IEA--
GO:0032281alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex IEA--

CPT1C for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for CPT1C About   (see all 6)  
See pathways by source

SuperPathContained pathways About
1Fatty acid metabolism
Fatty acid metabolism0.42
mitochondrial L-carnitine shuttle pathway0.00
Fatty acid degradation0.42
2PPAR signaling pathway
PPAR signaling pathway
3FOXA2 and FOXA3 transcription factor networks
FOXA2 and FOXA3 transcription factor networks
4AMPK signaling
AMPK signaling
5AMPK Enzyme Complex Pathway
AMPK Enzyme Complex Pathway

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of GeneGlobe 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


4 Kegg Pathways  (Kegg details for CPT1C):
    Fatty acid degradation
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

    Pathway & Disease-focused RT2 Profiler PCR Array including CPT1C: 

          Fatty Acid Metabolism in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for CPT1C

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

Selected Interacting proteins for CPT1C (ENSP000003193434) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
InteractantInteraction Details
GeneCardExternal ID(s)
ACSL3ENSP000003500124STRING: ENSP00000350012
ACSL6ENSP000002968694STRING: ENSP00000296869
CPT1AENSP000002656414STRING: ENSP00000265641
CPT1BENSP000003121894STRING: ENSP00000312189
ACADLENSP000002337104STRING: ENSP00000233710
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Gene Ontology (GO): 2 biological process terms:    About this table

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

CPT1C for ontologies           About GeneDecksing



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

Browse Tocris compounds for 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--



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for CPT1C gene (4 alternative transcripts): 
NM_001136052.2  NM_001199752.2  NM_001199753.1  NM_152359.2  

Unigene Cluster for CPT1C:

Carnitine palmitoyltransferase 1C
Hs.112195  [show with all ESTs]
Unigene Representative Sequence: NM_001199752
Selected 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
miRNA
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Search for qRT-PCR Assays for microRNAs that regulate CPT1C
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for CPT1C
Predesigned siRNA for gene silencing in human, mouse, rat CPT1C
Clone
Products:
     
OriGene clones in human, mouse for CPT1C (see all 11)
OriGene ORF clones in mouse, rat for CPT1C
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 4): CPT1C (NM_001136052)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for CPT1C
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPT1C
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for CPT1C
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CPT1C
  QuantiTect SYBR Green Assays in human, mouse, rat CPT1C
  QuantiFast Probe-based Assays in human, mouse, rat CPT1C

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 

Selected AceView cDNA sequences (see all 94):

BM709316 BM694068 AL565745 AK096516 BQ447026 CF529663 BX281684 AL831876 
BU732463 BC029104 BF983189 AF357970 AK074389 BI918290 BM704619 BU730685 
NM_152359 AI751612 BM550377 AL542370 BP365756 BQ448476 BE313898 BV197355 

GeneLoc Exon Structure

Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CPT1C expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 3) fully expand
 
 Neural Tube (Nervous System)
         Telencephalon
 
 Brain (Nervous System)
         Cerebral Cortex
 
 Peripheral Nervous System (Nervous System)
CPT1C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CPT1C Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.112195

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

    Pathway & Disease-focused RT2 Profiler PCR Array including CPT1C: 
          Fatty Acid Metabolism in human mouse rat

Primer
Products:
OriGene qSTAR qPCR primer pairs in human, mouse for CPT1C
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CPT1C
QuantiTect SYBR Green Assays in human, mouse, rat CPT1C
QuantiFast Probe-based Assays in human, mouse, rat CPT1C
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPT1C

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

Orthologs for CPT1C gene from Selected species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Cpt1c1 , 5 carnitine palmitoyltransferase 1c1, 5 81.7(n)1
83.83(a)1
  7 (29.07 cM)5
780701  NM_153679.21  NP_710146.11 
 449593735 
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
57(a)
many ↔ many
6(80273467-80296806)
zebrafish
(Danio rerio)
Actinopterygii zgc:1124846
zgc:112484
53(a)
many ↔ many
3(32362282-32427072) ENSDARG00000037943
fruit fly
(Drosophila melanogaster)
Insecta whd6
withered
43(a)
1 → many
2R(6356978-6366073)
worm
(Caenorhabditis elegans)
Secernentea cpt-16
Protein CPT-1 (cpt-1) mRNA, complete cds
41(a)
1 → many
II(12787830-12796452) WBGene00012907


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)
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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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for CPT1C (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) Selected 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

Site Specific Mutation Identification with PCR Assays
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(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.)
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OMIM gene information: 608846    OMIM disorders: --

8 diseases for CPT1C:    
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peripheral neuropathy    multiple myeloma    neuropathy    myeloma
melanoma    hiv-1    cerebritis    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)
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PubMed articles for CPT1C gene, integrated from 10 sources (see all 23):
(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. (Genomics 2002)
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 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. (Genome Res. 2004)
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  6. Genomics of the human carnitine acyltransferase genes. (PubMed id 11001805)1, 3 van der Leij F.R....Bartelds B. (Mol. Genet. Metab. 2000)
  7. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
  8. The CPT1C 5'UTR contains a repressing upstream open reading frame that is regulated by cellular energy availability and AMPK. (PubMed id 21961029)1 Lohse I....Zaugg K. (PLoS ONE 2011)
  9. Carnitine palmitoyltransferase 1C promotes cell survival and tumor growth under conditions of metabolic stress. (PubMed id 21576264)1 Zaugg K....Mak T.W. (amp 2011)
  10. 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. (Obes Rev 2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 126129 HGNC: 18540 AceView: CPT1C Ensembl:ENSG00000169169 euGenes: HUgn126129
ECgene: CPT1C Kegg: 126129 H-InvDB: CPT1C

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for CPT1C Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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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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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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