Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PCMT1 (protein-L-isoaspartate (D-aspartate) O-methyltransferase)

Identity

Other aliasPIMT
HGNC (Hugo) PCMT1
LocusID (NCBI) 5110
Atlas_Id 41669
Location 6q25.1  [Link to chromosome band 6q25]
Location_base_pair Starts at 149749695 and ends at 149811421 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)
PCMT1 (6q25.1) / LATS1 (6q25.1)SPAG9 (17q21.33) / PCMT1 (6q25.1)SPAG9 17q21.33 / PCMT1 6q25.1

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) [ 1 ]
  t(6;17)(q25;q21) SPAG9/PCMT1


External links

Nomenclature
HGNC (Hugo)PCMT1   8728
Cards
Entrez_Gene (NCBI)PCMT1  5110  protein-L-isoaspartate (D-aspartate) O-methyltransferase
AliasesPIMT
GeneCards (Weizmann)PCMT1
Ensembl hg19 (Hinxton)ENSG00000120265 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000120265 [Gene_View]  ENSG00000120265 [Sequence]  chr6:149749695-149811421 [Contig_View]  PCMT1 [Vega]
ICGC DataPortalENSG00000120265
TCGA cBioPortalPCMT1
AceView (NCBI)PCMT1
Genatlas (Paris)PCMT1
WikiGenes5110
SOURCE (Princeton)PCMT1
Genetics Home Reference (NIH)PCMT1
Genomic and cartography
GoldenPath hg38 (UCSC)PCMT1  -     chr6:149749695-149811421 +  6q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PCMT1  -     6q25.1   [Description]    (hg19-Feb_2009)
EnsemblPCMT1 - 6q25.1 [CytoView hg19]  PCMT1 - 6q25.1 [CytoView hg38]
Mapping of homologs : NCBIPCMT1 [Mapview hg19]  PCMT1 [Mapview hg38]
OMIM176851   
Gene and transcription
Genbank (Entrez)AA442100 AI220702 AK098739 AK129778 AK289724
RefSeq transcript (Entrez)NM_001252049 NM_001252050 NM_001252051 NM_001252052 NM_001252053 NM_001360452 NM_001360456 NM_005389
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PCMT1
Cluster EST : UnigeneHs.279257 [ NCBI ]
CGAP (NCI)Hs.279257
Alternative Splicing GalleryENSG00000120265
Gene ExpressionPCMT1 [ NCBI-GEO ]   PCMT1 [ EBI - ARRAY_EXPRESS ]   PCMT1 [ SEEK ]   PCMT1 [ MEM ]
Gene Expression Viewer (FireBrowse)PCMT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5110
GTEX Portal (Tissue expression)PCMT1
Human Protein AtlasENSG00000120265-PCMT1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP22061   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP22061  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP22061
Splice isoforms : SwissVarP22061
Catalytic activity : Enzyme2.1.1.77 [ Enzyme-Expasy ]   2.1.1.772.1.1.77 [ IntEnz-EBI ]   2.1.1.77 [ BRENDA ]   2.1.1.77 [ KEGG ]   
PhosPhoSitePlusP22061
Domaine pattern : Prosite (Expaxy)PCMT (PS01279)   
Domains : Interpro (EBI)PCMT    SAM-dependent_MTases   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)PCMT1
DMDM Disease mutations5110
Blocks (Seattle)PCMT1
PDB (SRS)1I1N    1KR5   
PDB (PDBSum)1I1N    1KR5   
PDB (IMB)1I1N    1KR5   
PDB (RSDB)1I1N    1KR5   
Structural Biology KnowledgeBase1I1N    1KR5   
SCOP (Structural Classification of Proteins)1I1N    1KR5   
CATH (Classification of proteins structures)1I1N    1KR5   
SuperfamilyP22061
Human Protein Atlas [tissue]ENSG00000120265-PCMT1 [tissue]
Peptide AtlasP22061
HPRD08908
IPIIPI00411680   IPI00922359   IPI00828189   IPI00947458   IPI00945092   IPI00945422   IPI00946967   IPI00946965   
Protein Interaction databases
DIP (DOE-UCLA)P22061
IntAct (EBI)P22061
FunCoupENSG00000120265
BioGRIDPCMT1
STRING (EMBL)PCMT1
ZODIACPCMT1
Ontologies - Pathways
QuickGOP22061
Ontology : AmiGOprotein-L-isoaspartate (D-aspartate) O-methyltransferase activity  protein-L-isoaspartate (D-aspartate) O-methyltransferase activity  protein binding  cytoplasm  cytosol  cytosol  protein methylation  protein repair  cadherin binding  extracellular exosome  extracellular vesicle  
Ontology : EGO-EBIprotein-L-isoaspartate (D-aspartate) O-methyltransferase activity  protein-L-isoaspartate (D-aspartate) O-methyltransferase activity  protein binding  cytoplasm  cytosol  cytosol  protein methylation  protein repair  cadherin binding  extracellular exosome  extracellular vesicle  
NDEx NetworkPCMT1
Atlas of Cancer Signalling NetworkPCMT1
Wikipedia pathwaysPCMT1
Orthology - Evolution
OrthoDB5110
GeneTree (enSembl)ENSG00000120265
Phylogenetic Trees/Animal Genes : TreeFamPCMT1
HOVERGENP22061
HOGENOMP22061
Homologs : HomoloGenePCMT1
Homology/Alignments : Family Browser (UCSC)PCMT1
Gene fusions - Rearrangements
Fusion : MitelmanSPAG9/PCMT1 [17q21.33/6q25.1]  [t(6;17)(q25;q21)]  
Fusion PortalSPAG9 17q21.33 PCMT1 6q25.1 BLCA
Fusion : QuiverPCMT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCMT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCMT1
dbVarPCMT1
ClinVarPCMT1
1000_GenomesPCMT1 
Exome Variant ServerPCMT1
ExAC (Exome Aggregation Consortium)ENSG00000120265
GNOMAD BrowserENSG00000120265
Varsome BrowserPCMT1
Genetic variants : HAPMAP5110
Genomic Variants (DGV)PCMT1 [DGVbeta]
DECIPHERPCMT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPCMT1 
Mutations
ICGC Data PortalPCMT1 
TCGA Data PortalPCMT1 
Broad Tumor PortalPCMT1
OASIS PortalPCMT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPCMT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPCMT1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PCMT1
DgiDB (Drug Gene Interaction Database)PCMT1
DoCM (Curated mutations)PCMT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCMT1 (select a term)
intoGenPCMT1
Cancer3DPCMT1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM176851   
Orphanet
DisGeNETPCMT1
MedgenPCMT1
Genetic Testing Registry PCMT1
NextProtP22061 [Medical]
TSGene5110
GENETestsPCMT1
Target ValidationPCMT1
Huge Navigator PCMT1 [HugePedia]
snp3D : Map Gene to Disease5110
BioCentury BCIQPCMT1
ClinGenPCMT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5110
Chemical/Pharm GKB GenePA262
Clinical trialPCMT1
Miscellaneous
canSAR (ICR)PCMT1 (select the gene name)
Probes
Litterature
PubMed93 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCMT1
EVEXPCMT1
GoPubMedPCMT1
iHOPPCMT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:28:59 CET 2018

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