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ME1 (malic enzyme 1)

Identity

Alias_namesmalic enzyme 1
Other aliasHUMNDME
MES
HGNC (Hugo) ME1
LocusID (NCBI) 4199
Atlas_Id 53518
Location 6q14.2  [Link to chromosome band 6q14]
Location_base_pair Starts at 83210391 and ends at 83431219 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)
GABRR2 (6q15) / ME1 (6q14.2)ME1 (6q14.2) / GABRR2 (6q15)ME1 (6q14.2) / SNAP91 (6q14.2)
ME1 6q14.2 / SNAP91 6q14.2

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  Lung: Translocations in Squamous Cell Carcinoma
ME1/SNAP91 (6q14)
t(6;6)(q14;q15) ME1/GABRR2
t(6;6)(q14;q15) GABRR2/ME1


External links

Nomenclature
HGNC (Hugo)ME1   6983
Cards
Entrez_Gene (NCBI)ME1  4199  malic enzyme 1
AliasesHUMNDME; MES
GeneCards (Weizmann)ME1
Ensembl hg19 (Hinxton)ENSG00000065833 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000065833 [Gene_View]  ENSG00000065833 [Sequence]  chr6:83210391-83431219 [Contig_View]  ME1 [Vega]
ICGC DataPortalENSG00000065833
TCGA cBioPortalME1
AceView (NCBI)ME1
Genatlas (Paris)ME1
WikiGenes4199
SOURCE (Princeton)ME1
Genetics Home Reference (NIH)ME1
Genomic and cartography
GoldenPath hg38 (UCSC)ME1  -     chr6:83210391-83431219 -  6q14.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ME1  -     6q14.2   [Description]    (hg19-Feb_2009)
EnsemblME1 - 6q14.2 [CytoView hg19]  ME1 - 6q14.2 [CytoView hg38]
Mapping of homologs : NCBIME1 [Mapview hg19]  ME1 [Mapview hg38]
OMIM154250   
Gene and transcription
Genbank (Entrez)AJ420574 AK223417 AK289783 AK301875 AK302777
RefSeq transcript (Entrez)NM_002395
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ME1
Cluster EST : UnigeneHs.21160 [ NCBI ]
CGAP (NCI)Hs.21160
Alternative Splicing GalleryENSG00000065833
Gene ExpressionME1 [ NCBI-GEO ]   ME1 [ EBI - ARRAY_EXPRESS ]   ME1 [ SEEK ]   ME1 [ MEM ]
Gene Expression Viewer (FireBrowse)ME1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4199
GTEX Portal (Tissue expression)ME1
Human Protein AtlasENSG00000065833-ME1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP48163   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP48163  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP48163
Splice isoforms : SwissVarP48163
Catalytic activity : Enzyme1.1.1.40 [ Enzyme-Expasy ]   1.1.1.401.1.1.40 [ IntEnz-EBI ]   1.1.1.40 [ BRENDA ]   1.1.1.40 [ KEGG ]   
PhosPhoSitePlusP48163
Domaine pattern : Prosite (Expaxy)MALIC_ENZYMES (PS00331)   
Domains : Interpro (EBI)Malic_enzyme_CS    Malic_N_dom    Malic_N_dom_sf    Malic_NAD-bd    Malic_OxRdtase    NAD(P)-bd_dom_sf   
Domain families : Pfam (Sanger)malic (PF00390)    Malic_M (PF03949)   
Domain families : Pfam (NCBI)pfam00390    pfam03949   
Domain families : Smart (EMBL)malic (SM01274)  Malic_M (SM00919)  
Conserved Domain (NCBI)ME1
DMDM Disease mutations4199
Blocks (Seattle)ME1
PDB (SRS)2AW5    3WJA   
PDB (PDBSum)2AW5    3WJA   
PDB (IMB)2AW5    3WJA   
PDB (RSDB)2AW5    3WJA   
Structural Biology KnowledgeBase2AW5    3WJA   
SCOP (Structural Classification of Proteins)2AW5    3WJA   
CATH (Classification of proteins structures)2AW5    3WJA   
SuperfamilyP48163
Human Protein Atlas [tissue]ENSG00000065833-ME1 [tissue]
Peptide AtlasP48163
HPRD01102
IPIIPI00008215   IPI01009977   IPI01016024   IPI01015637   
Protein Interaction databases
DIP (DOE-UCLA)P48163
IntAct (EBI)P48163
FunCoupENSG00000065833
BioGRIDME1
STRING (EMBL)ME1
ZODIACME1
Ontologies - Pathways
QuickGOP48163
Ontology : AmiGOmalic enzyme activity  malic enzyme activity  malic enzyme activity  malate dehydrogenase (decarboxylating) (NAD+) activity  malate dehydrogenase (decarboxylating) (NADP+) activity  malate dehydrogenase (decarboxylating) (NADP+) activity  malate dehydrogenase (decarboxylating) (NADP+) activity  malate dehydrogenase (decarboxylating) (NADP+) activity  mitochondrion  cytosol  cytosol  carbohydrate metabolic process  pyruvate metabolic process  pyruvate metabolic process  malate metabolic process  malate metabolic process  NADP biosynthetic process  oxaloacetate decarboxylase activity  electron transfer activity  response to hormone  response to carbohydrate  regulation of lipid metabolic process  electron transport chain  manganese ion binding  ADP binding  NADP binding  protein tetramerization  NAD binding  regulation of NADP metabolic process  
Ontology : EGO-EBImalic enzyme activity  malic enzyme activity  malic enzyme activity  malate dehydrogenase (decarboxylating) (NAD+) activity  malate dehydrogenase (decarboxylating) (NADP+) activity  malate dehydrogenase (decarboxylating) (NADP+) activity  malate dehydrogenase (decarboxylating) (NADP+) activity  malate dehydrogenase (decarboxylating) (NADP+) activity  mitochondrion  cytosol  cytosol  carbohydrate metabolic process  pyruvate metabolic process  pyruvate metabolic process  malate metabolic process  malate metabolic process  NADP biosynthetic process  oxaloacetate decarboxylase activity  electron transfer activity  response to hormone  response to carbohydrate  regulation of lipid metabolic process  electron transport chain  manganese ion binding  ADP binding  NADP binding  protein tetramerization  NAD binding  regulation of NADP metabolic process  
Pathways : KEGGPyruvate metabolism    PPAR signaling pathway   
NDEx NetworkME1
Atlas of Cancer Signalling NetworkME1
Wikipedia pathwaysME1
Orthology - Evolution
OrthoDB4199
GeneTree (enSembl)ENSG00000065833
Phylogenetic Trees/Animal Genes : TreeFamME1
HOVERGENP48163
HOGENOMP48163
Homologs : HomoloGeneME1
Homology/Alignments : Family Browser (UCSC)ME1
Gene fusions - Rearrangements
Fusion : MitelmanGABRR2/ME1 [6q15/6q14.2]  [t(6;6)(q14;q15)]  
Fusion : MitelmanME1/GABRR2 [6q14.2/6q15]  [t(6;6)(q14;q15)]  
Fusion : MitelmanME1/SNAP91 [6q14.2/6q14.2]  [t(6;6)(q14;q14)]  
Fusion PortalME1 6q14.2 SNAP91 6q14.2 LUSC
Fusion : QuiverME1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerME1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ME1
dbVarME1
ClinVarME1
1000_GenomesME1 
Exome Variant ServerME1
ExAC (Exome Aggregation Consortium)ENSG00000065833
GNOMAD BrowserENSG00000065833
Varsome BrowserME1
Genetic variants : HAPMAP4199
Genomic Variants (DGV)ME1 [DGVbeta]
DECIPHERME1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisME1 
Mutations
ICGC Data PortalME1 
TCGA Data PortalME1 
Broad Tumor PortalME1
OASIS PortalME1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICME1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDME1
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 ME1
DgiDB (Drug Gene Interaction Database)ME1
DoCM (Curated mutations)ME1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ME1 (select a term)
intoGenME1
Cancer3DME1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM154250   
Orphanet
DisGeNETME1
MedgenME1
Genetic Testing Registry ME1
NextProtP48163 [Medical]
TSGene4199
GENETestsME1
Target ValidationME1
Huge Navigator ME1 [HugePedia]
snp3D : Map Gene to Disease4199
BioCentury BCIQME1
ClinGenME1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4199
Chemical/Pharm GKB GenePA30723
Clinical trialME1
Miscellaneous
canSAR (ICR)ME1 (select the gene name)
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineME1
EVEXME1
GoPubMedME1
iHOPME1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 11:19:27 CET 2018

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