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MMEL1 (membrane metallo-endopeptidase-like 1)

Identity

Alias_namesMMEL2
membrane metallo-endopeptidase-like 2
Alias_symbol (synonym)SEP
NL1
NL2
NEPII
Other aliasNEP2
HGNC (Hugo) MMEL1
LocusID (NCBI) 79258
Atlas_Id 70349
Location 1p36.32  [Link to chromosome band 1p36]
Location_base_pair Starts at 2522081 and ends at 2564481 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MAST2 (1p34.1) / MMEL1 (1p36.32)MMEL1 (1p36.32) / KIF1B (1p36.22)

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)MMEL1   14668
Cards
Entrez_Gene (NCBI)MMEL1  79258  membrane metallo-endopeptidase-like 1
AliasesMMEL2; NEP2; NEPII; NL1; 
NL2; SEP
GeneCards (Weizmann)MMEL1
Ensembl hg19 (Hinxton)ENSG00000142606 [Gene_View]  chr1:2522081-2564481 [Contig_View]  MMEL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000142606 [Gene_View]  chr1:2522081-2564481 [Contig_View]  MMEL1 [Vega]
ICGC DataPortalENSG00000142606
TCGA cBioPortalMMEL1
AceView (NCBI)MMEL1
Genatlas (Paris)MMEL1
WikiGenes79258
SOURCE (Princeton)MMEL1
Genetics Home Reference (NIH)MMEL1
Genomic and cartography
GoldenPath hg19 (UCSC)MMEL1  -     chr1:2522081-2564481 -  1p36.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MMEL1  -     1p36.32   [Description]    (hg38-Dec_2013)
EnsemblMMEL1 - 1p36.32 [CytoView hg19]  MMEL1 - 1p36.32 [CytoView hg38]
Mapping of homologs : NCBIMMEL1 [Mapview hg19]  MMEL1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF336981 AK093058 BC101027 BC101028 BC101029
RefSeq transcript (Entrez)NM_033467
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_032977 NT_187515 NW_004929288
Consensus coding sequences : CCDS (NCBI)MMEL1
Cluster EST : UnigeneHs.591453 [ NCBI ]
CGAP (NCI)Hs.591453
Alternative Splicing GalleryENSG00000142606
Gene ExpressionMMEL1 [ NCBI-GEO ]   MMEL1 [ EBI - ARRAY_EXPRESS ]   MMEL1 [ SEEK ]   MMEL1 [ MEM ]
Gene Expression Viewer (FireBrowse)MMEL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79258
GTEX Portal (Tissue expression)MMEL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ495T6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ495T6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ495T6
Splice isoforms : SwissVarQ495T6
Catalytic activity : Enzyme3.4.24.11 [ Enzyme-Expasy ]   3.4.24.113.4.24.11 [ IntEnz-EBI ]   3.4.24.11 [ BRENDA ]   3.4.24.11 [ KEGG ]   
PhosPhoSitePlusQ495T6
Domaine pattern : Prosite (Expaxy)ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)MetalloPept_cat_dom    MMEL1    Peptidase_M13    Peptidase_M13_C    Peptidase_M13_N   
Domain families : Pfam (Sanger)Peptidase_M13 (PF01431)    Peptidase_M13_N (PF05649)   
Domain families : Pfam (NCBI)pfam01431    pfam05649   
Conserved Domain (NCBI)MMEL1
DMDM Disease mutations79258
Blocks (Seattle)MMEL1
SuperfamilyQ495T6
Human Protein AtlasENSG00000142606
Peptide AtlasQ495T6
HPRD07024
IPIIPI00044461   IPI00785061   IPI00647257   IPI00783435   
Protein Interaction databases
DIP (DOE-UCLA)Q495T6
IntAct (EBI)Q495T6
FunCoupENSG00000142606
BioGRIDMMEL1
STRING (EMBL)MMEL1
ZODIACMMEL1
Ontologies - Pathways
QuickGOQ495T6
Ontology : AmiGOmetalloendopeptidase activity  extracellular space  endoplasmic reticulum  Golgi apparatus  proteolysis  zinc ion binding  integral component of membrane  
Ontology : EGO-EBImetalloendopeptidase activity  extracellular space  endoplasmic reticulum  Golgi apparatus  proteolysis  zinc ion binding  integral component of membrane  
NDEx NetworkMMEL1
Atlas of Cancer Signalling NetworkMMEL1
Wikipedia pathwaysMMEL1
Orthology - Evolution
OrthoDB79258
GeneTree (enSembl)ENSG00000142606
Phylogenetic Trees/Animal Genes : TreeFamMMEL1
HOVERGENQ495T6
HOGENOMQ495T6
Homologs : HomoloGeneMMEL1
Homology/Alignments : Family Browser (UCSC)MMEL1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMMEL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MMEL1
dbVarMMEL1
ClinVarMMEL1
1000_GenomesMMEL1 
Exome Variant ServerMMEL1
ExAC (Exome Aggregation Consortium)MMEL1 (select the gene name)
Genetic variants : HAPMAP79258
Genomic Variants (DGV)MMEL1 [DGVbeta]
DECIPHER (Syndromes)1:2522081-2564481  ENSG00000142606
CONAN: Copy Number AnalysisMMEL1 
Mutations
ICGC Data PortalMMEL1 
TCGA Data PortalMMEL1 
Broad Tumor PortalMMEL1
OASIS PortalMMEL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMMEL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMMEL1
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 MMEL1
DgiDB (Drug Gene Interaction Database)MMEL1
DoCM (Curated mutations)MMEL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MMEL1 (select a term)
intoGenMMEL1
Cancer3DMMEL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet874   
MedgenMMEL1
Genetic Testing Registry MMEL1
NextProtQ495T6 [Medical]
TSGene79258
GENETestsMMEL1
Huge Navigator MMEL1 [HugePedia]
snp3D : Map Gene to Disease79258
BioCentury BCIQMMEL1
ClinGenMMEL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79258
Chemical/Pharm GKB GenePA30865
Clinical trialMMEL1
Miscellaneous
canSAR (ICR)MMEL1 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMMEL1
EVEXMMEL1
GoPubMedMMEL1
iHOPMMEL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:33:22 CET 2017

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