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CPT1B (carnitine palmitoyltransferase 1B)

Identity

Alias_namescarnitine palmitoyltransferase 1B (muscle)
Alias_symbol (synonym)M-CPT1
CPT1-M
Other aliasCPT1M
CPTI
CPTI-M
MCCPT1
MCPT1
HGNC (Hugo) CPT1B
LocusID (NCBI) 1375
Atlas_Id 56198
Location 22q13.33  [Link to chromosome band 22q13]
Location_base_pair Starts at 50568861 and ends at 50578667 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BRAP (12q24.12) / CPT1B (22q13.33)CPT1B (22q13.33) / SEC14L3 (22q12.2)

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)CPT1B   2329
Cards
Entrez_Gene (NCBI)CPT1B  1375  carnitine palmitoyltransferase 1B
AliasesCPT1-M; CPT1M; CPTI; CPTI-M; 
M-CPT1; MCCPT1; MCPT1
GeneCards (Weizmann)CPT1B
Ensembl hg19 (Hinxton)ENSG00000205560 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000205560 [Gene_View]  chr22:50568861-50578667 [Contig_View]  CPT1B [Vega]
ICGC DataPortalENSG00000205560
TCGA cBioPortalCPT1B
AceView (NCBI)CPT1B
Genatlas (Paris)CPT1B
WikiGenes1375
SOURCE (Princeton)CPT1B
Genetics Home Reference (NIH)CPT1B
Genomic and cartography
GoldenPath hg38 (UCSC)CPT1B  -     chr22:50568861-50578667 -  22q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CPT1B  -     22q13.33   [Description]    (hg19-Feb_2009)
EnsemblCPT1B - 22q13.33 [CytoView hg19]  CPT1B - 22q13.33 [CytoView hg38]
Mapping of homologs : NCBICPT1B [Mapview hg19]  CPT1B [Mapview hg38]
OMIM601987   
Gene and transcription
Genbank (Entrez)AI142100 AK223174 AK291316 AK297866 AK299395
RefSeq transcript (Entrez)NM_001145134 NM_001145135 NM_001145136 NM_001145137 NM_004377 NM_152245 NM_152246 NM_152247
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CPT1B
Cluster EST : UnigeneHs.609867 [ NCBI ]
CGAP (NCI)Hs.609867
Alternative Splicing GalleryENSG00000205560
Gene ExpressionCPT1B [ NCBI-GEO ]   CPT1B [ EBI - ARRAY_EXPRESS ]   CPT1B [ SEEK ]   CPT1B [ MEM ]
Gene Expression Viewer (FireBrowse)CPT1B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1375
GTEX Portal (Tissue expression)CPT1B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92523   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92523  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92523
Splice isoforms : SwissVarQ92523
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 ]   
PhosPhoSitePlusQ92523
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)CPT1B
DMDM Disease mutations1375
Blocks (Seattle)CPT1B
SuperfamilyQ92523
Human Protein AtlasENSG00000205560
Peptide AtlasQ92523
HPRD09065
IPIIPI00877658   IPI00640400   IPI01010150   IPI00921936   IPI00922376   IPI00869084   IPI00879031   
Protein Interaction databases
DIP (DOE-UCLA)Q92523
IntAct (EBI)Q92523
FunCoupENSG00000205560
BioGRIDCPT1B
STRING (EMBL)CPT1B
ZODIACCPT1B
Ontologies - Pathways
QuickGOQ92523
Ontology : AmiGOcarnitine O-palmitoyltransferase activity  protein binding  mitochondrion  mitochondrial outer membrane  fatty acid beta-oxidation  carnitine shuttle  integral component of membrane  
Ontology : EGO-EBIcarnitine O-palmitoyltransferase activity  protein binding  mitochondrion  mitochondrial outer membrane  fatty acid beta-oxidation  carnitine shuttle  integral component of membrane  
Pathways : KEGGFatty acid degradation    PPAR signaling pathway    Adipocytokine signaling pathway   
NDEx NetworkCPT1B
Atlas of Cancer Signalling NetworkCPT1B
Wikipedia pathwaysCPT1B
Orthology - Evolution
OrthoDB1375
GeneTree (enSembl)ENSG00000205560
Phylogenetic Trees/Animal Genes : TreeFamCPT1B
HOVERGENQ92523
HOGENOMQ92523
Homologs : HomoloGeneCPT1B
Homology/Alignments : Family Browser (UCSC)CPT1B
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCPT1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CPT1B
dbVarCPT1B
ClinVarCPT1B
1000_GenomesCPT1B 
Exome Variant ServerCPT1B
ExAC (Exome Aggregation Consortium)CPT1B (select the gene name)
Genetic variants : HAPMAP1375
Genomic Variants (DGV)CPT1B [DGVbeta]
DECIPHERCPT1B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCPT1B 
Mutations
ICGC Data PortalCPT1B 
TCGA Data PortalCPT1B 
Broad Tumor PortalCPT1B
OASIS PortalCPT1B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCPT1B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCPT1B
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 CPT1B
DgiDB (Drug Gene Interaction Database)CPT1B
DoCM (Curated mutations)CPT1B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CPT1B (select a term)
intoGenCPT1B
Cancer3DCPT1B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601987   
Orphanet
MedgenCPT1B
Genetic Testing Registry CPT1B
NextProtQ92523 [Medical]
TSGene1375
GENETestsCPT1B
Target ValidationCPT1B
Huge Navigator CPT1B [HugePedia]
snp3D : Map Gene to Disease1375
BioCentury BCIQCPT1B
ClinGenCPT1B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1375
Chemical/Pharm GKB GenePA26848
Clinical trialCPT1B
Miscellaneous
canSAR (ICR)CPT1B (select the gene name)
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCPT1B
EVEXCPT1B
GoPubMedCPT1B
iHOPCPT1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:29:28 CEST 2017

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