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MEP1A (meprin A subunit alpha)

Identity

Alias_namesmeprin A
Alias_symbol (synonym)PPHA
Other alias
HGNC (Hugo) MEP1A
LocusID (NCBI) 4224
Atlas_Id 45861
Location 6p12.3  [Link to chromosome band 6p12]
Location_base_pair Starts at 46793357 and ends at 46839782 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)
ADGRF1 (6p12.3) / MEP1A (6p12.3)ADGRF5 (6p12.3) / MEP1A (6p12.3)GPR110 MEP1A 6p12.3
GPR116 MEP1A 6p12.3

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) [ 2 ]
  ADGRF1/MEP1A (6p12)
ADGRF5/MEP1A (6p12)


External links

Nomenclature
HGNC (Hugo)MEP1A   7015
Cards
Entrez_Gene (NCBI)MEP1A  4224  meprin A subunit alpha
AliasesPPHA
GeneCards (Weizmann)MEP1A
Ensembl hg19 (Hinxton)ENSG00000112818 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112818 [Gene_View]  ENSG00000112818 [Sequence]  chr6:46793357-46839782 [Contig_View]  MEP1A [Vega]
ICGC DataPortalENSG00000112818
TCGA cBioPortalMEP1A
AceView (NCBI)MEP1A
Genatlas (Paris)MEP1A
WikiGenes4224
SOURCE (Princeton)MEP1A
Genetics Home Reference (NIH)MEP1A
Genomic and cartography
GoldenPath hg38 (UCSC)MEP1A  -     chr6:46793357-46839782 +  6p12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MEP1A  -     6p12.3   [Description]    (hg19-Feb_2009)
EnsemblMEP1A - 6p12.3 [CytoView hg19]  MEP1A - 6p12.3 [CytoView hg38]
Mapping of homologs : NCBIMEP1A [Mapview hg19]  MEP1A [Mapview hg38]
OMIM600388   
Gene and transcription
Genbank (Entrez)AF478685 AK225212 AK290282 AK315246 AK315840
RefSeq transcript (Entrez)NM_005588
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MEP1A
Cluster EST : UnigeneHs.179704 [ NCBI ]
CGAP (NCI)Hs.179704
Alternative Splicing GalleryENSG00000112818
Gene ExpressionMEP1A [ NCBI-GEO ]   MEP1A [ EBI - ARRAY_EXPRESS ]   MEP1A [ SEEK ]   MEP1A [ MEM ]
Gene Expression Viewer (FireBrowse)MEP1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4224
GTEX Portal (Tissue expression)MEP1A
Human Protein AtlasENSG00000112818-MEP1A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16819   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16819  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16819
Splice isoforms : SwissVarQ16819
Catalytic activity : Enzyme3.4.24.18 [ Enzyme-Expasy ]   3.4.24.183.4.24.18 [ IntEnz-EBI ]   3.4.24.18 [ BRENDA ]   3.4.24.18 [ KEGG ]   
PhosPhoSitePlusQ16819
Domaine pattern : Prosite (Expaxy)EGF_3 (PS50026)    MAM_1 (PS00740)    MAM_2 (PS50060)    MATH (PS50144)    ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)ConA-like_dom_sf    EGF-like_dom    MAM_dom    MATH/TRAF_dom    Meprin    Meprin_alpha    MetalloPept_cat_dom_sf    Peptidase_M12A    Peptidase_Metallo    TRAF-like    ZnMP_meprin   
Domain families : Pfam (Sanger)Astacin (PF01400)    EGF (PF00008)    MAM (PF00629)   
Domain families : Pfam (NCBI)pfam01400    pfam00008    pfam00629   
Domain families : Smart (EMBL)MAM (SM00137)  MATH (SM00061)  ZnMc (SM00235)  
Conserved Domain (NCBI)MEP1A
DMDM Disease mutations4224
Blocks (Seattle)MEP1A
SuperfamilyQ16819
Human Protein Atlas [tissue]ENSG00000112818-MEP1A [tissue]
Peptide AtlasQ16819
HPRD02666
IPIIPI00004372   
Protein Interaction databases
DIP (DOE-UCLA)Q16819
IntAct (EBI)Q16819
FunCoupENSG00000112818
BioGRIDMEP1A
STRING (EMBL)MEP1A
ZODIACMEP1A
Ontologies - Pathways
QuickGOQ16819
Ontology : AmiGOmetalloendopeptidase activity  protein binding  extracellular space  integral component of plasma membrane  proteolysis  zinc ion binding  meprin A complex  meprin A complex  extracellular exosome  
Ontology : EGO-EBImetalloendopeptidase activity  protein binding  extracellular space  integral component of plasma membrane  proteolysis  zinc ion binding  meprin A complex  meprin A complex  extracellular exosome  
Pathways : KEGGProtein digestion and absorption   
NDEx NetworkMEP1A
Atlas of Cancer Signalling NetworkMEP1A
Wikipedia pathwaysMEP1A
Orthology - Evolution
OrthoDB4224
GeneTree (enSembl)ENSG00000112818
Phylogenetic Trees/Animal Genes : TreeFamMEP1A
HOVERGENQ16819
HOGENOMQ16819
Homologs : HomoloGeneMEP1A
Homology/Alignments : Family Browser (UCSC)MEP1A
Gene fusions - Rearrangements
Fusion : MitelmanADGRF1/MEP1A [6p12.3/6p12.3]  [t(6;6)(p12;p12)]  
Fusion : MitelmanADGRF5/MEP1A [6p12.3/6p12.3]  [t(6;6)(p12;p12)]  
Fusion PortalGPR110 MEP1A 6p12.3 BLCA
Fusion PortalGPR116 MEP1A 6p12.3 LUAD
Fusion : QuiverMEP1A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMEP1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MEP1A
dbVarMEP1A
ClinVarMEP1A
1000_GenomesMEP1A 
Exome Variant ServerMEP1A
ExAC (Exome Aggregation Consortium)ENSG00000112818
GNOMAD BrowserENSG00000112818
Varsome BrowserMEP1A
Genetic variants : HAPMAP4224
Genomic Variants (DGV)MEP1A [DGVbeta]
DECIPHERMEP1A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMEP1A 
Mutations
ICGC Data PortalMEP1A 
TCGA Data PortalMEP1A 
Broad Tumor PortalMEP1A
OASIS PortalMEP1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMEP1A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMEP1A
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 MEP1A
DgiDB (Drug Gene Interaction Database)MEP1A
DoCM (Curated mutations)MEP1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MEP1A (select a term)
intoGenMEP1A
Cancer3DMEP1A(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600388   
Orphanet
DisGeNETMEP1A
MedgenMEP1A
Genetic Testing Registry MEP1A
NextProtQ16819 [Medical]
TSGene4224
GENETestsMEP1A
Target ValidationMEP1A
Huge Navigator MEP1A [HugePedia]
snp3D : Map Gene to Disease4224
BioCentury BCIQMEP1A
ClinGenMEP1A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4224
Chemical/Pharm GKB GenePA30749
Clinical trialMEP1A
Miscellaneous
canSAR (ICR)MEP1A (select the gene name)
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMEP1A
EVEXMEP1A
GoPubMedMEP1A
iHOPMEP1A
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 11:19:39 CET 2018

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