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CPT1A (carnitine palmitoyltransferase 1A)

Identity

Alias (NCBI)CPT1
CPT1-L
L-CPT1
HGNC (Hugo) CPT1A
HGNC Alias symbCPT1-L
L-CPT1
HGNC Previous nameCPT1
HGNC Previous namecarnitine palmitoyltransferase 1A (liver)
LocusID (NCBI) 1374
Atlas_Id 50088
Location 11q13.3  [Link to chromosome band 11q13]
Location_base_pair Starts at 68754883 and ends at 68841916 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

 

External links

 

Nomenclature
HGNC (Hugo)CPT1A   2328
Cards
Entrez_Gene (NCBI)CPT1A    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]  chr11:68754883-68841916 [Contig_View]  CPT1A [Vega]
ICGC DataPortalENSG00000110090
TCGA cBioPortalCPT1A
AceView (NCBI)CPT1A
Genatlas (Paris)CPT1A
SOURCE (Princeton)CPT1A
Genetics Home Reference (NIH)CPT1A
Genomic and cartography
GoldenPath hg38 (UCSC)CPT1A  -     chr11:68754883-68841916 -  11q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CPT1A  -     11q13.3   [Description]    (hg19-Feb_2009)
GoldenPathCPT1A - 11q13.3 [CytoView hg19]  CPT1A - 11q13.3 [CytoView hg38]
ImmunoBaseENSG00000110090
Genome Data Viewer NCBICPT1A [Mapview hg19]  
OMIM255120   600528   
Gene and transcription
Genbank (Entrez)AA632225 AJ420378 AK025307 AK172798 AK309464
RefSeq transcript (Entrez)NM_001031847 NM_001876
Consensus coding sequences : CCDS (NCBI)CPT1A
Gene ExpressionCPT1A [ NCBI-GEO ]   CPT1A [ EBI - ARRAY_EXPRESS ]   CPT1A [ SEEK ]   CPT1A [ MEM ]
Gene Expression Viewer (FireBrowse)CPT1A [ Firebrowse - Broad ]
GenevisibleExpression of CPT1A 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
PhosPhoSitePlusP50416
Domaine pattern : Prosite (Expaxy)ACYLTRANSF_C_1 (PS00439)    ACYLTRANSF_C_2 (PS00440)   
Domains : Interpro (EBI)Carn_acyl_trans    Cho/carn_acyl_trans    Cho/carn_acyl_trans_1    Cho/carn_acyl_trans_2    CPT_N   
Domain families : Pfam (Sanger)Carn_acyltransf (PF00755)    CPT_N (PF16484)   
Domain families : Pfam (NCBI)pfam00755    pfam16484   
Conserved Domain (NCBI)CPT1A
PDB (RSDB)2LE3   
PDB Europe2LE3   
PDB (PDBSum)2LE3   
PDB (IMB)2LE3   
Structural Biology KnowledgeBase2LE3   
SCOP (Structural Classification of Proteins)2LE3   
CATH (Classification of proteins structures)2LE3   
SuperfamilyP50416
AlphaFold pdb e-kbP50416   
Human Protein Atlas [tissue]ENSG00000110090-CPT1A [tissue]
HPRD02755
Protein Interaction databases
DIP (DOE-UCLA)P50416
IntAct (EBI)P50416
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  mitochondrial outer membrane  glucose metabolic process  fatty acid metabolic process  fatty acid beta-oxidation  triglyceride metabolic process  carnitine shuttle  carnitine metabolic process  carnitine metabolic process  regulation of lipid storage  response to organic cyclic compound  membrane  epithelial cell differentiation  integral component of mitochondrial outer membrane  response to nutrient levels  positive regulation of fatty acid beta-oxidation  response to drug  eating behavior  identical protein binding  response to alkaloid  response to ethanol  response to antibiotic  regulation of insulin secretion  cellular response to fatty acid  liver regeneration  response to tetrachloromethane  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  mitochondrial outer membrane  glucose metabolic process  fatty acid metabolic process  fatty acid beta-oxidation  triglyceride metabolic process  carnitine shuttle  carnitine metabolic process  carnitine metabolic process  regulation of lipid storage  response to organic cyclic compound  membrane  epithelial cell differentiation  integral component of mitochondrial outer membrane  response to nutrient levels  positive regulation of fatty acid beta-oxidation  response to drug  eating behavior  identical protein binding  response to alkaloid  response to ethanol  response to antibiotic  regulation of insulin secretion  cellular response to fatty acid  liver regeneration  response to tetrachloromethane  palmitoleoyltransferase activity  
Pathways : BIOCARTAReversal of Insulin Resistance by Leptin [Genes]    Mitochondrial Carnitine Palmitoyltransferase (CPT) System [Genes]   
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
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]  
Fusion : MitelmanCPT1A/FGF3 [11q13.3/11q13.3]  
Fusion : MitelmanCPT1A/KCNG1 [11q13.3/20q13.13]  
Fusion : MitelmanFCHSD2/CPT1A [11q13.4/11q13.3]  
Fusion : MitelmanSHANK2/CPT1A [11q13.3/11q13.3]  
Fusion : QuiverCPT1A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCPT1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CPT1A
dbVarCPT1A
ClinVarCPT1A
MonarchCPT1A
1000_GenomesCPT1A 
Exome Variant ServerCPT1A
GNOMAD BrowserENSG00000110090
Varsome BrowserCPT1A
ACMGCPT1A variants
VarityP50416
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]  
Somatic Mutations in Cancer : COSMIC3DCPT1A
Mutations and Diseases : HGMDCPT1A
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCPT1A
DgiDB (Drug Gene Interaction Database)CPT1A
DoCM (Curated mutations)CPT1A
CIViC (Clinical Interpretations of Variants in Cancer)CPT1A
Cancer3DCPT1A
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM255120    600528   
Orphanet1215   
DisGeNETCPT1A
MedgenCPT1A
Genetic Testing Registry CPT1A
NextProtP50416 [Medical]
GENETestsCPT1A
Target ValidationCPT1A
Huge Navigator CPT1A [HugePedia]
ClinGenCPT1A
Clinical trials, drugs, therapy
MyCancerGenomeCPT1A
Protein Interactions : CTDCPT1A
Pharm GKB GenePA26847
PharosP50416
Clinical trialCPT1A
Miscellaneous
canSAR (ICR)CPT1A
HarmonizomeCPT1A
DataMed IndexCPT1A
Probes
Litterature
PubMed152 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCPT1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:05:05 CEST 2021
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