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CPT1A (carnitine palmitoyltransferase 1A)

Identity

Alias_namesCPT1
carnitine palmitoyltransferase 1A (liver)
Alias_symbol (synonym)CPT1-L
L-CPT1
Other alias
HGNC (Hugo) CPT1A
LocusID (NCBI) 1374
Atlas_Id 50088
Location 12q15  [Link to chromosome band 12q15]
Location_base_pair Starts at 68754883 and ends at 68841931 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CPT1A (11q13.3) / ADAM2 (8p11.22)CPT1A (11q13.3) / ANPEP (15q26.1)CPT1A (11q13.3) / C16orf72 (16p13.2)
CPT1A (11q13.3) / FGF3 (11q13.3)CPT1A (11q13.3) / FGG (4q31.3)CPT1A (11q13.3) / GAPDH (12p13.31)
CPT1A (11q13.3) / KCNG1 (20q13.13)CPT1A (11q13.3) / RDH5 (12q13.2)FCHSD2 (11q13.4) / CPT1A (11q13.3)
SHANK2 (11q13.3) / CPT1A (11q13.3)CPT1A 11q13.3 / ADAM2 8p11.22CPT1A 11q13.3 / ANPEP 15q26.1
CPT1A 11q13.3 / FGF3 11q13.3CPT1A 11q13.3 / KCNG1 20q13.13FCHSD2 11q13.4 / CPT1A 11q13.3
SHANK2 11q13.3 / CPT1A 11q13.3

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  t(8;11)(p11;q13) CPT1A/ADAM2
CPT1A/FGF3 (11q13)
FCHSD2/CPT1A (11q13)
SHANK2/CPT1A (11q13)
t(11;15)(q13;q26) CPT1A/ANPEP
t(11;20)(q13;q13) CPT1A/KCNG1

External links

Nomenclature
HGNC (Hugo)CPT1A   2328
Cards
Entrez_Gene (NCBI)CPT1A  1374  carnitine palmitoyltransferase 1A
AliasesCPT1; CPT1-L; L-CPT1
GeneCards (Weizmann)CPT1A
Ensembl hg19 (Hinxton)ENSG00000110090 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000110090 [Gene_View]  ENSG00000110090 [Sequence]  chr11:68754883-68841931 [Contig_View]  CPT1A [Vega]
ICGC DataPortalENSG00000110090
TCGA cBioPortalCPT1A
AceView (NCBI)CPT1A
Genatlas (Paris)CPT1A
WikiGenes1374
SOURCE (Princeton)CPT1A
Genetics Home Reference (NIH)CPT1A
Genomic and cartography
GoldenPath hg38 (UCSC)CPT1A  -     chr11:68754883-68841931 -  12q15   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CPT1A  -     12q15   [Description]    (hg19-Feb_2009)
EnsemblCPT1A - 12q15 [CytoView hg19]  CPT1A - 12q15 [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)
Consensus coding sequences : CCDS (NCBI)CPT1A
Cluster EST : UnigeneHs.503043 [ NCBI ]
CGAP (NCI)Hs.503043
Alternative Splicing GalleryENSG00000110090
Gene ExpressionCPT1A [ NCBI-GEO ]   CPT1A [ EBI - ARRAY_EXPRESS ]   CPT1A [ SEEK ]   CPT1A [ MEM ]
Gene Expression Viewer (FireBrowse)CPT1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1374
GTEX Portal (Tissue expression)CPT1A
Human Protein AtlasENSG00000110090-CPT1A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP50416   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP50416  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP50416
Splice isoforms : SwissVarP50416
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 ]   
PhosPhoSitePlusP50416
Domaine pattern : Prosite (Expaxy)ACYLTRANSF_C_1 (PS00439)    ACYLTRANSF_C_2 (PS00440)   
Domains : Interpro (EBI)Carn_acyl_trans    CPT_N   
Domain families : Pfam (Sanger)Carn_acyltransf (PF00755)    CPT_N (PF16484)   
Domain families : Pfam (NCBI)pfam00755    pfam16484   
Conserved Domain (NCBI)CPT1A
DMDM Disease mutations1374
Blocks (Seattle)CPT1A
PDB (SRS)2LE3   
PDB (PDBSum)2LE3   
PDB (IMB)2LE3   
PDB (RSDB)2LE3   
Structural Biology KnowledgeBase2LE3   
SCOP (Structural Classification of Proteins)2LE3   
CATH (Classification of proteins structures)2LE3   
SuperfamilyP50416
Human Protein Atlas [tissue]ENSG00000110090-CPT1A [tissue]
Peptide AtlasP50416
HPRD02755
IPIIPI00032038   IPI00479108   
Protein Interaction databases
DIP (DOE-UCLA)P50416
IntAct (EBI)P50416
FunCoupENSG00000110090
BioGRIDCPT1A
STRING (EMBL)CPT1A
ZODIACCPT1A
Ontologies - Pathways
QuickGOP50416
Ontology : AmiGOlong-chain fatty acid metabolic process  carnitine O-palmitoyltransferase activity  carnitine O-palmitoyltransferase activity  carnitine O-palmitoyltransferase activity  mitochondrion  mitochondrion  mitochondrial outer membrane  glucose metabolic process  fatty acid metabolic process  fatty acid beta-oxidation  triglyceride metabolic process  carnitine shuttle  circadian rhythm  O-acyltransferase activity  carnitine metabolic process  carnitine metabolic process  response to organic cyclic compound  membrane  regulation of lipid metabolic process  epithelial cell differentiation  integral component of mitochondrial outer membrane  positive regulation of fatty acid beta-oxidation  response to drug  eating behavior  identical protein binding  regulation of insulin secretion  protein homooligomerization  cellular response to fatty acid  palmitoleoyltransferase activity  
Ontology : EGO-EBIlong-chain fatty acid metabolic process  carnitine O-palmitoyltransferase activity  carnitine O-palmitoyltransferase activity  carnitine O-palmitoyltransferase activity  mitochondrion  mitochondrion  mitochondrial outer membrane  glucose metabolic process  fatty acid metabolic process  fatty acid beta-oxidation  triglyceride metabolic process  carnitine shuttle  circadian rhythm  O-acyltransferase activity  carnitine metabolic process  carnitine metabolic process  response to organic cyclic compound  membrane  regulation of lipid metabolic process  epithelial cell differentiation  integral component of mitochondrial outer membrane  positive regulation of fatty acid beta-oxidation  response to drug  eating behavior  identical protein binding  regulation of insulin secretion  protein homooligomerization  cellular response to fatty acid  palmitoleoyltransferase activity  
Pathways : KEGGFatty acid degradation    PPAR signaling pathway    Adipocytokine signaling pathway   
NDEx NetworkCPT1A
Atlas of Cancer Signalling NetworkCPT1A
Wikipedia pathwaysCPT1A
Orthology - Evolution
OrthoDB1374
GeneTree (enSembl)ENSG00000110090
Phylogenetic Trees/Animal Genes : TreeFamCPT1A
HOVERGENP50416
HOGENOMP50416
Homologs : HomoloGeneCPT1A
Homology/Alignments : Family Browser (UCSC)CPT1A
Gene fusions - Rearrangements
Fusion : MitelmanCPT1A/ADAM2 [11q13.3/8p11.22]  
Fusion : MitelmanCPT1A/ANPEP [11q13.3/15q26.1]  [t(11;15)(q13;q26)]  
Fusion : MitelmanCPT1A/FGF3 [11q13.3/11q13.3]  [t(11;11)(q13;q13)]  
Fusion : MitelmanCPT1A/KCNG1 [11q13.3/20q13.13]  [t(11;20)(q13;q13)]  
Fusion : MitelmanFCHSD2/CPT1A [11q13.4/11q13.3]  [t(11;11)(q13;q13)]  
Fusion : MitelmanSHANK2/CPT1A [11q13.3/11q13.3]  [t(11;11)(q13;q13)]  
Fusion PortalCPT1A 11q13.3 ADAM2 8p11.22 BRCA
Fusion PortalCPT1A 11q13.3 ANPEP 15q26.1 KIRC
Fusion PortalCPT1A 11q13.3 FGF3 11q13.3 HNSC
Fusion PortalCPT1A 11q13.3 KCNG1 20q13.13 BRCA
Fusion PortalFCHSD2 11q13.4 CPT1A 11q13.3 BRCA
Fusion PortalSHANK2 11q13.3 CPT1A 11q13.3 BRCA
Fusion : QuiverCPT1A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCPT1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CPT1A
dbVarCPT1A
ClinVarCPT1A
1000_GenomesCPT1A 
Exome Variant ServerCPT1A
ExAC (Exome Aggregation Consortium)ENSG00000110090
GNOMAD BrowserENSG00000110090
Varsome BrowserCPT1A
Genetic variants : HAPMAP1374
Genomic Variants (DGV)CPT1A [DGVbeta]
DECIPHERCPT1A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCPT1A 
Mutations
ICGC Data PortalCPT1A 
TCGA Data PortalCPT1A 
Broad Tumor PortalCPT1A
OASIS PortalCPT1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCPT1A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCPT1A
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
BioMutasearch CPT1A
DgiDB (Drug Gene Interaction Database)CPT1A
DoCM (Curated mutations)CPT1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CPT1A (select a term)
intoGenCPT1A
Cancer3DCPT1A(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM255120    600528   
Orphanet1215   
DisGeNETCPT1A
MedgenCPT1A
Genetic Testing Registry CPT1A
NextProtP50416 [Medical]
TSGene1374
GENETestsCPT1A
Target ValidationCPT1A
Huge Navigator CPT1A [HugePedia]
snp3D : Map Gene to Disease1374
BioCentury BCIQCPT1A
ClinGenCPT1A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1374
Chemical/Pharm GKB GenePA26847
Clinical trialCPT1A
Miscellaneous
canSAR (ICR)CPT1A (select the gene name)
Probes
Litterature
PubMed108 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCPT1A
EVEXCPT1A
GoPubMedCPT1A
iHOPCPT1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Aug 16 10:55:30 CEST 2018
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