Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PCYT1A (phosphate cytidylyltransferase 1, choline, alpha)

Identity

Alias_namescholine
alpha isoform
Alias_symbol (synonym)CT
CTPCT
Other aliasCCTA
CTA
PCYT1
SMDCRD
HGNC (Hugo) PCYT1A
LocusID (NCBI) 5130
Atlas_Id 52117
Location 3q29  [Link to chromosome band 3q29]
Location_base_pair Starts at 196237745 and ends at 196287752 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PCYT1A (3q29) / EPHA6 (3q11.2)PCYT1A 3q29 / EPHA6 3q11.2

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)PCYT1A   8754
Cards
Entrez_Gene (NCBI)PCYT1A  5130  phosphate cytidylyltransferase 1, choline, alpha
AliasesCCTA; CT; CTA; CTPCT; 
PCYT1; SMDCRD
GeneCards (Weizmann)PCYT1A
Ensembl hg19 (Hinxton)ENSG00000161217 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000161217 [Gene_View]  chr3:196237745-196287752 [Contig_View]  PCYT1A [Vega]
ICGC DataPortalENSG00000161217
TCGA cBioPortalPCYT1A
AceView (NCBI)PCYT1A
Genatlas (Paris)PCYT1A
WikiGenes5130
SOURCE (Princeton)PCYT1A
Genetics Home Reference (NIH)PCYT1A
Genomic and cartography
GoldenPath hg38 (UCSC)PCYT1A  -     chr3:196237745-196287752 -  3q29   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PCYT1A  -     3q29   [Description]    (hg19-Feb_2009)
EnsemblPCYT1A - 3q29 [CytoView hg19]  PCYT1A - 3q29 [CytoView hg38]
Mapping of homologs : NCBIPCYT1A [Mapview hg19]  PCYT1A [Mapview hg38]
OMIM123695   608940   
Gene and transcription
Genbank (Entrez)AF088041 AK001567 AK129838 AK304534 AK309073
RefSeq transcript (Entrez)NM_001312673 NM_005017
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PCYT1A
Cluster EST : UnigeneHs.732774 [ NCBI ]
CGAP (NCI)Hs.732774
Alternative Splicing GalleryENSG00000161217
Gene ExpressionPCYT1A [ NCBI-GEO ]   PCYT1A [ EBI - ARRAY_EXPRESS ]   PCYT1A [ SEEK ]   PCYT1A [ MEM ]
Gene Expression Viewer (FireBrowse)PCYT1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5130
GTEX Portal (Tissue expression)PCYT1A
Protein : pattern, domain, 3D structure
UniProt/SwissProtP49585   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP49585  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP49585
Splice isoforms : SwissVarP49585
PhosPhoSitePlusP49585
Domains : Interpro (EBI)Cyt_trans-like    Rossmann-like_a/b/a_fold   
Domain families : Pfam (Sanger)CTP_transf_like (PF01467)   
Domain families : Pfam (NCBI)pfam01467   
Conserved Domain (NCBI)PCYT1A
DMDM Disease mutations5130
Blocks (Seattle)PCYT1A
SuperfamilyP49585
Human Protein AtlasENSG00000161217
Peptide AtlasP49585
HPRD00438
IPIIPI00329338   IPI00790032   IPI00927242   IPI00924713   IPI00924982   IPI00925312   IPI00925535   IPI00925798   IPI00926006   IPI00793265   IPI00927030   
Protein Interaction databases
DIP (DOE-UCLA)P49585
IntAct (EBI)P49585
FunCoupENSG00000161217
BioGRIDPCYT1A
STRING (EMBL)PCYT1A
ZODIACPCYT1A
Ontologies - Pathways
QuickGOP49585
Ontology : AmiGOcholine-phosphate cytidylyltransferase activity  choline-phosphate cytidylyltransferase activity  calmodulin binding  nuclear envelope  endoplasmic reticulum membrane  endoplasmic reticulum membrane  cytosol  plasma membrane  phosphatidylcholine biosynthetic process  phosphatidylcholine biosynthetic process  CDP-choline pathway  phosphatidylcholine binding  glycogen granule  protein homodimerization activity  
Ontology : EGO-EBIcholine-phosphate cytidylyltransferase activity  choline-phosphate cytidylyltransferase activity  calmodulin binding  nuclear envelope  endoplasmic reticulum membrane  endoplasmic reticulum membrane  cytosol  plasma membrane  phosphatidylcholine biosynthetic process  phosphatidylcholine biosynthetic process  CDP-choline pathway  phosphatidylcholine binding  glycogen granule  protein homodimerization activity  
Pathways : KEGGGlycerophospholipid metabolism   
NDEx NetworkPCYT1A
Atlas of Cancer Signalling NetworkPCYT1A
Wikipedia pathwaysPCYT1A
Orthology - Evolution
OrthoDB5130
GeneTree (enSembl)ENSG00000161217
Phylogenetic Trees/Animal Genes : TreeFamPCYT1A
HOVERGENP49585
HOGENOMP49585
Homologs : HomoloGenePCYT1A
Homology/Alignments : Family Browser (UCSC)PCYT1A
Gene fusions - Rearrangements
Fusion : MitelmanPCYT1A/EPHA6 [3q29/3q11.2]  
Fusion: TCGAPCYT1A 3q29 EPHA6 3q11.2 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCYT1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCYT1A
dbVarPCYT1A
ClinVarPCYT1A
1000_GenomesPCYT1A 
Exome Variant ServerPCYT1A
ExAC (Exome Aggregation Consortium)PCYT1A (select the gene name)
Genetic variants : HAPMAP5130
Genomic Variants (DGV)PCYT1A [DGVbeta]
DECIPHERPCYT1A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPCYT1A 
Mutations
ICGC Data PortalPCYT1A 
TCGA Data PortalPCYT1A 
Broad Tumor PortalPCYT1A
OASIS PortalPCYT1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPCYT1A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPCYT1A
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
BioMutasearch PCYT1A
DgiDB (Drug Gene Interaction Database)PCYT1A
DoCM (Curated mutations)PCYT1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCYT1A (select a term)
intoGenPCYT1A
Cancer3DPCYT1A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM123695    608940   
Orphanet11634   
MedgenPCYT1A
Genetic Testing Registry PCYT1A
NextProtP49585 [Medical]
TSGene5130
GENETestsPCYT1A
Target ValidationPCYT1A
Huge Navigator PCYT1A [HugePedia]
snp3D : Map Gene to Disease5130
BioCentury BCIQPCYT1A
ClinGenPCYT1A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5130
Chemical/Pharm GKB GenePA33099
Clinical trialPCYT1A
Miscellaneous
canSAR (ICR)PCYT1A (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCYT1A
EVEXPCYT1A
GoPubMedPCYT1A
iHOPPCYT1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Wed Jun 7 12:48:50 CEST 2017

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