Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CPT1A (carnitine palmitoyltransferase 1A (liver))

Identity

Other namesCPT1
CPT1-L
L-CPT1
HGNC (Hugo) CPT1A
LocusID (NCBI) 1374
Location 11q13.3
Location_base_pair Starts at 68522088 and ends at 68609399 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)CPT1A   2328
Cards
Entrez_Gene (NCBI)CPT1A  1374  carnitine palmitoyltransferase 1A (liver)
GeneCards (Weizmann)CPT1A
Ensembl hg19 (Hinxton)ENSG00000110090 [Gene_View]  chr11:68522088-68609399 [Contig_View]  CPT1A [Vega]
Ensembl hg38 (Hinxton)ENSG00000110090 [Gene_View]  chr11:68522088-68609399 [Contig_View]  CPT1A [Vega]
ICGC DataPortalENSG00000110090
cBioPortalCPT1A
AceView (NCBI)CPT1A
Genatlas (Paris)CPT1A
WikiGenes1374
SOURCE (Princeton)CPT1A
Genomic and cartography
GoldenPath hg19 (UCSC)CPT1A  -     chr11:68522088-68609399 -  11q13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CPT1A  -     11q13.3   [Description]    (hg38-Dec_2013)
EnsemblCPT1A - 11q13.3 [CytoView hg19]  CPT1A - 11q13.3 [CytoView hg38]
Mapping of homologs : NCBICPT1A [Mapview hg19]  CPT1A [Mapview hg38]
OMIM255120   600528   
Gene and transcription
Genbank (Entrez)AA632225 AJ420378 AK025307 AK172798 AK309464
RefSeq transcript (Entrez)NM_001031847 NM_001876
RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NG_011801 NT_167190 NW_001838025 NW_004929380
Consensus coding sequences : CCDS (NCBI)CPT1A
Cluster EST : UnigeneHs.503043 [ NCBI ]
CGAP (NCI)Hs.503043
Alternative Splicing : Fast-db (Paris)GSHG0005968
Alternative Splicing GalleryENSG00000110090
Gene ExpressionCPT1A [ NCBI-GEO ]     CPT1A [ SEEK ]   CPT1A [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP50416 (Uniprot)
NextProtP50416  [Medical]
With graphics : InterProP50416
Splice isoforms : SwissVarP50416 (Swissvar)
Catalytic activity : Enzyme2.3.1.21 [ Enzyme-Expasy ]   2.3.1.212.3.1.21 [ IntEnz-EBI ]   2.3.1.21 [ BRENDA ]   2.3.1.21 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)ACYLTRANSF_C_1 (PS00439)    ACYLTRANSF_C_2 (PS00440)   
Domains : Interpro (EBI)Carn_acyl_trans   
Related proteins : CluSTrP50416
Domain families : Pfam (Sanger)Carn_acyltransf (PF00755)   
Domain families : Pfam (NCBI)pfam00755   
DMDM Disease mutations1374
Blocks (Seattle)P50416
PDB (SRS)2LE3   
PDB (PDBSum)2LE3   
PDB (IMB)2LE3   
PDB (RSDB)2LE3   
Human Protein AtlasENSG00000110090
Peptide AtlasP50416
HPRD02755
IPIIPI00032038   IPI00479108   
Protein Interaction databases
DIP (DOE-UCLA)P50416
IntAct (EBI)P50416
FunCoupENSG00000110090
BioGRIDCPT1A
IntegromeDBCPT1A
STRING (EMBL)CPT1A
Ontologies - Pathways
QuickGOP50416
Ontology : AmiGOlong-chain fatty acid metabolic process  carnitine O-palmitoyltransferase activity  mitochondrion  mitochondrial outer membrane  mitochondrial inner membrane  glucose metabolic process  fatty acid beta-oxidation  triglyceride metabolic process  carnitine shuttle  carnitine metabolic process  response to organic cyclic compound  membrane  epithelial cell differentiation  integral component of mitochondrial outer membrane  positive regulation of fatty acid beta-oxidation  response to drug  eating behavior  identical protein binding  cellular lipid metabolic process  small molecule metabolic process  regulation of insulin secretion  protein homooligomerization  cellular response to fatty acid  
Ontology : EGO-EBIlong-chain fatty acid metabolic process  carnitine O-palmitoyltransferase activity  mitochondrion  mitochondrial outer membrane  mitochondrial inner membrane  glucose metabolic process  fatty acid beta-oxidation  triglyceride metabolic process  carnitine shuttle  carnitine metabolic process  response to organic cyclic compound  membrane  epithelial cell differentiation  integral component of mitochondrial outer membrane  positive regulation of fatty acid beta-oxidation  response to drug  eating behavior  identical protein binding  cellular lipid metabolic process  small molecule metabolic process  regulation of insulin secretion  protein homooligomerization  cellular response to fatty acid  
Pathways : BIOCARTAReversal of Insulin Resistance by Leptin [Genes]    Mitochondrial Carnitine Palmitoyltransferase (CPT) System [Genes]   
Pathways : KEGGFatty acid degradation    PPAR signaling pathway    Adipocytokine signaling pathway   
Protein Interaction DatabaseCPT1A
DoCM (Curated mutations)CPT1A
Wikipedia pathwaysCPT1A
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCPT1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CPT1A
dbVarCPT1A
ClinVarCPT1A
1000_GenomesCPT1A 
Exome Variant ServerCPT1A
SNP (GeneSNP Utah)CPT1A
SNP : HGBaseCPT1A
Genetic variants : HAPMAPCPT1A
Genomic VariantsCPT1A  CPT1A [DGVbeta]
Mutations
ICGC Data PortalENSG00000110090 
Somatic Mutations in Cancer : COSMICCPT1A 
CONAN: Copy Number AnalysisCPT1A 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:68522088-68609399
Mutations and Diseases : HGMDCPT1A
OMIM255120    600528   
MedgenCPT1A
NextProtP50416 [Medical]
GENETestsCPT1A
Disease Genetic AssociationCPT1A
Huge Navigator CPT1A [HugePedia]  CPT1A [HugeCancerGEM]
snp3D : Map Gene to Disease1374
DGIdb (Drug Gene Interaction db)CPT1A
General knowledge
Homologs : HomoloGeneCPT1A
Homology/Alignments : Family Browser (UCSC)CPT1A
Phylogenetic Trees/Animal Genes : TreeFamCPT1A
Chemical/Protein Interactions : CTD1374
Chemical/Pharm GKB GenePA26847
Clinical trialCPT1A
Cancer Resource (Charite)ENSG00000110090
Other databases
Probes
Litterature
PubMed80 Pubmed reference(s) in Entrez
CoreMineCPT1A
GoPubMedCPT1A
iHOPCPT1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:58:24 CET 2014
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