Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ENOPH1 (enolase-phosphatase 1)

Identity

Alias_symbol (synonym)MASA
E1
mtnC
Other aliasMST145
HGNC (Hugo) ENOPH1
LocusID (NCBI) 58478
Atlas_Id 41304
Location 4q21.22  [Link to chromosome band 4q21]
Location_base_pair Starts at 83351633 and ends at 83382328 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ENOPH1 (4q21.22) / ARGLU1 (13q33.3)MRPS18C (4q21.23) / ENOPH1 (4q21.22)TSNAX (1q42.2) / ENOPH1 (4q21.22)
MRPS18C 4q21.23 / ENOPH1 4q21.22

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)ENOPH1   24599
Cards
Entrez_Gene (NCBI)ENOPH1  58478  enolase-phosphatase 1
AliasesE1; MASA; MST145; mtnC
GeneCards (Weizmann)ENOPH1
Ensembl hg19 (Hinxton)ENSG00000145293 [Gene_View]  chr4:83351633-83382328 [Contig_View]  ENOPH1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000145293 [Gene_View]  chr4:83351633-83382328 [Contig_View]  ENOPH1 [Vega]
ICGC DataPortalENSG00000145293
TCGA cBioPortalENOPH1
AceView (NCBI)ENOPH1
Genatlas (Paris)ENOPH1
WikiGenes58478
SOURCE (Princeton)ENOPH1
Genetics Home Reference (NIH)ENOPH1
Genomic and cartography
GoldenPath hg19 (UCSC)ENOPH1  -     chr4:83351633-83382328 +  4q21.22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ENOPH1  -     4q21.22   [Description]    (hg38-Dec_2013)
EnsemblENOPH1 - 4q21.22 [CytoView hg19]  ENOPH1 - 4q21.22 [CytoView hg38]
Mapping of homologs : NCBIENOPH1 [Mapview hg19]  ENOPH1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF087881 AF113125 AF177286 AK022656 AL110167
RefSeq transcript (Entrez)NM_001292017 NM_021204
RefSeq genomic (Entrez)NC_000004 NC_018915 NT_016354 NW_004929320
Consensus coding sequences : CCDS (NCBI)ENOPH1
Cluster EST : UnigeneHs.18442 [ NCBI ]
CGAP (NCI)Hs.18442
Alternative Splicing GalleryENSG00000145293
Gene ExpressionENOPH1 [ NCBI-GEO ]   ENOPH1 [ EBI - ARRAY_EXPRESS ]   ENOPH1 [ SEEK ]   ENOPH1 [ MEM ]
Gene Expression Viewer (FireBrowse)ENOPH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)58478
GTEX Portal (Tissue expression)ENOPH1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHY7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHY7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHY7
Splice isoforms : SwissVarQ9UHY7
PhosPhoSitePlusQ9UHY7
Domains : Interpro (EBI)Enolase-ppase_E1    ENOPH1_eukaryotes    HAD-like_dom    HAD-SF_hydro_IA   
Domain families : Pfam (Sanger)HAD_2 (PF13419)   
Domain families : Pfam (NCBI)pfam13419   
Conserved Domain (NCBI)ENOPH1
DMDM Disease mutations58478
Blocks (Seattle)ENOPH1
PDB (SRS)1YNS    1ZS9   
PDB (PDBSum)1YNS    1ZS9   
PDB (IMB)1YNS    1ZS9   
PDB (RSDB)1YNS    1ZS9   
Structural Biology KnowledgeBase1YNS    1ZS9   
SCOP (Structural Classification of Proteins)1YNS    1ZS9   
CATH (Classification of proteins structures)1YNS    1ZS9   
SuperfamilyQ9UHY7
Human Protein AtlasENSG00000145293
Peptide AtlasQ9UHY7
HPRD17467
IPIIPI00038378   IPI00795241   IPI00940730   IPI00966573   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHY7
IntAct (EBI)Q9UHY7
FunCoupENSG00000145293
BioGRIDENOPH1
STRING (EMBL)ENOPH1
ZODIACENOPH1
Ontologies - Pathways
QuickGOQ9UHY7
Ontology : AmiGOmagnesium ion binding  nucleus  cytosol  dephosphorylation  dephosphorylation  dephosphorylation  L-methionine biosynthetic process from methylthioadenosine  L-methionine biosynthetic process from methylthioadenosine  L-methionine biosynthetic process from methylthioadenosine  acireductone synthase activity  acireductone synthase activity  extracellular exosome  
Ontology : EGO-EBImagnesium ion binding  nucleus  cytosol  dephosphorylation  dephosphorylation  dephosphorylation  L-methionine biosynthetic process from methylthioadenosine  L-methionine biosynthetic process from methylthioadenosine  L-methionine biosynthetic process from methylthioadenosine  acireductone synthase activity  acireductone synthase activity  extracellular exosome  
Pathways : KEGGCysteine and methionine metabolism   
NDEx NetworkENOPH1
Atlas of Cancer Signalling NetworkENOPH1
Wikipedia pathwaysENOPH1
Orthology - Evolution
OrthoDB58478
GeneTree (enSembl)ENSG00000145293
Phylogenetic Trees/Animal Genes : TreeFamENOPH1
HOVERGENQ9UHY7
HOGENOMQ9UHY7
Homologs : HomoloGeneENOPH1
Homology/Alignments : Family Browser (UCSC)ENOPH1
Gene fusions - Rearrangements
Fusion : MitelmanMRPS18C/ENOPH1 [4q21.23/4q21.22]  [t(4;4)(q21;q21)]  
Fusion: TCGAMRPS18C 4q21.23 ENOPH1 4q21.22 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerENOPH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ENOPH1
dbVarENOPH1
ClinVarENOPH1
1000_GenomesENOPH1 
Exome Variant ServerENOPH1
ExAC (Exome Aggregation Consortium)ENOPH1 (select the gene name)
Genetic variants : HAPMAP58478
Genomic Variants (DGV)ENOPH1 [DGVbeta]
DECIPHER (Syndromes)4:83351633-83382328  ENSG00000145293
CONAN: Copy Number AnalysisENOPH1 
Mutations
ICGC Data PortalENOPH1 
TCGA Data PortalENOPH1 
Broad Tumor PortalENOPH1
OASIS PortalENOPH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICENOPH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDENOPH1
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 ENOPH1
DgiDB (Drug Gene Interaction Database)ENOPH1
DoCM (Curated mutations)ENOPH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ENOPH1 (select a term)
intoGenENOPH1
Cancer3DENOPH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenENOPH1
Genetic Testing Registry ENOPH1
NextProtQ9UHY7 [Medical]
TSGene58478
GENETestsENOPH1
Huge Navigator ENOPH1 [HugePedia]
snp3D : Map Gene to Disease58478
BioCentury BCIQENOPH1
ClinGenENOPH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD58478
Chemical/Pharm GKB GenePA162385052
Clinical trialENOPH1
Miscellaneous
canSAR (ICR)ENOPH1 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineENOPH1
EVEXENOPH1
GoPubMedENOPH1
iHOPENOPH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:00:07 CEST 2017

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