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EDEM1 (ER degradation enhancing alpha-mannosidase like protein 1)

Identity

Alias_namesER degradation enhancer
Alias_symbol (synonym)KIAA0212
EDEM
Other alias
HGNC (Hugo) EDEM1
LocusID (NCBI) 9695
Atlas_Id 45857
Location 3p26.1  [Link to chromosome band 3p26]
Location_base_pair Starts at 5229359 and ends at 5261650 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ANP32E (1q21.2) / EDEM1 (3p26.1)CHM (Xq21.2) / EDEM1 (3p26.1)EDEM1 (3p26.1) / GPD1L (3p22.3)
GPD1L (3p22.3) / EDEM1 (3p26.1)RAPGEF5 (7p15.3) / EDEM1 (3p26.1)EDEM1 3p26.1 / GPD1L 3p22.3

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

 


External links

Nomenclature
HGNC (Hugo)EDEM1   18967
Cards
Entrez_Gene (NCBI)EDEM1  9695  ER degradation enhancing alpha-mannosidase like protein 1
AliasesEDEM
GeneCards (Weizmann)EDEM1
Ensembl hg19 (Hinxton)ENSG00000134109 [Gene_View]  chr3:5229359-5261650 [Contig_View]  EDEM1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000134109 [Gene_View]  chr3:5229359-5261650 [Contig_View]  EDEM1 [Vega]
ICGC DataPortalENSG00000134109
TCGA cBioPortalEDEM1
AceView (NCBI)EDEM1
Genatlas (Paris)EDEM1
WikiGenes9695
SOURCE (Princeton)EDEM1
Genetics Home Reference (NIH)EDEM1
Genomic and cartography
GoldenPath hg19 (UCSC)EDEM1  -     chr3:5229359-5261650 +  3p26.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EDEM1  -     3p26.1   [Description]    (hg38-Dec_2013)
EnsemblEDEM1 - 3p26.1 [CytoView hg19]  EDEM1 - 3p26.1 [CytoView hg38]
Mapping of homologs : NCBIEDEM1 [Mapview hg19]  EDEM1 [Mapview hg38]
OMIM607673   
Gene and transcription
Genbank (Entrez)AK292643 AK298511 AK302065 BC019088 CN364698
RefSeq transcript (Entrez)NM_014674
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_022517 NW_004929309
Consensus coding sequences : CCDS (NCBI)EDEM1
Cluster EST : UnigeneHs.224616 [ NCBI ]
CGAP (NCI)Hs.224616
Alternative Splicing GalleryENSG00000134109
Gene ExpressionEDEM1 [ NCBI-GEO ]   EDEM1 [ EBI - ARRAY_EXPRESS ]   EDEM1 [ SEEK ]   EDEM1 [ MEM ]
Gene Expression Viewer (FireBrowse)EDEM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9695
GTEX Portal (Tissue expression)EDEM1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92611   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92611  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92611
Splice isoforms : SwissVarQ92611
PhosPhoSitePlusQ92611
Domains : Interpro (EBI)Glyco_hydro_47   
Domain families : Pfam (Sanger)Glyco_hydro_47 (PF01532)   
Domain families : Pfam (NCBI)pfam01532   
Conserved Domain (NCBI)EDEM1
DMDM Disease mutations9695
Blocks (Seattle)EDEM1
SuperfamilyQ92611
Human Protein AtlasENSG00000134109
Peptide AtlasQ92611
HPRD09644
IPIIPI00005683   IPI00910568   IPI00305046   IPI00926446   IPI00925811   IPI00926924   
Protein Interaction databases
DIP (DOE-UCLA)Q92611
IntAct (EBI)Q92611
FunCoupENSG00000134109
BioGRIDEDEM1
STRING (EMBL)EDEM1
ZODIACEDEM1
Ontologies - Pathways
QuickGOQ92611
Ontology : AmiGOglycoprotein binding  alpha-mannosidase activity  mannosyl-oligosaccharide 1,2-alpha-mannosidase activity  mannosyl-oligosaccharide 1,2-alpha-mannosidase activity  calcium ion binding  protein binding  endoplasmic reticulum  endoplasmic reticulum  N-glycan processing  integral component of endoplasmic reticulum membrane  ER-associated ubiquitin-dependent protein catabolic process  ER-associated ubiquitin-dependent protein catabolic process  endoplasmic reticulum unfolded protein response  IRE1-mediated unfolded protein response  trimming of terminal mannose on C branch  endoplasmic reticulum quality control compartment  misfolded protein binding  glycoprotein ERAD pathway  positive regulation of retrograde protein transport, ER to cytosol  positive regulation of retrograde protein transport, ER to cytosol  endoplasmic reticulum mannose trimming  mannose trimming involved in glycoprotein ERAD pathway  
Ontology : EGO-EBIglycoprotein binding  alpha-mannosidase activity  mannosyl-oligosaccharide 1,2-alpha-mannosidase activity  mannosyl-oligosaccharide 1,2-alpha-mannosidase activity  calcium ion binding  protein binding  endoplasmic reticulum  endoplasmic reticulum  N-glycan processing  integral component of endoplasmic reticulum membrane  ER-associated ubiquitin-dependent protein catabolic process  ER-associated ubiquitin-dependent protein catabolic process  endoplasmic reticulum unfolded protein response  IRE1-mediated unfolded protein response  trimming of terminal mannose on C branch  endoplasmic reticulum quality control compartment  misfolded protein binding  glycoprotein ERAD pathway  positive regulation of retrograde protein transport, ER to cytosol  positive regulation of retrograde protein transport, ER to cytosol  endoplasmic reticulum mannose trimming  mannose trimming involved in glycoprotein ERAD pathway  
Pathways : BIOCARTAERĝassociated degradation (ERAD) Pathway [Genes]   
Pathways : KEGGProtein processing in endoplasmic reticulum   
NDEx NetworkEDEM1
Atlas of Cancer Signalling NetworkEDEM1
Wikipedia pathwaysEDEM1
Orthology - Evolution
OrthoDB9695
GeneTree (enSembl)ENSG00000134109
Phylogenetic Trees/Animal Genes : TreeFamEDEM1
HOVERGENQ92611
HOGENOMQ92611
Homologs : HomoloGeneEDEM1
Homology/Alignments : Family Browser (UCSC)EDEM1
Gene fusions - Rearrangements
Fusion : MitelmanEDEM1/GPD1L [3p26.1/3p22.3]  
Fusion: TCGAEDEM1 3p26.1 GPD1L 3p22.3 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEDEM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EDEM1
dbVarEDEM1
ClinVarEDEM1
1000_GenomesEDEM1 
Exome Variant ServerEDEM1
ExAC (Exome Aggregation Consortium)EDEM1 (select the gene name)
Genetic variants : HAPMAP9695
Genomic Variants (DGV)EDEM1 [DGVbeta]
DECIPHER (Syndromes)3:5229359-5261650  ENSG00000134109
CONAN: Copy Number AnalysisEDEM1 
Mutations
ICGC Data PortalEDEM1 
TCGA Data PortalEDEM1 
Broad Tumor PortalEDEM1
OASIS PortalEDEM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEDEM1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEDEM1
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 EDEM1
DgiDB (Drug Gene Interaction Database)EDEM1
DoCM (Curated mutations)EDEM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EDEM1 (select a term)
intoGenEDEM1
Cancer3DEDEM1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607673   
Orphanet
MedgenEDEM1
Genetic Testing Registry EDEM1
NextProtQ92611 [Medical]
TSGene9695
GENETestsEDEM1
Huge Navigator EDEM1 [HugePedia]
snp3D : Map Gene to Disease9695
BioCentury BCIQEDEM1
ClinGenEDEM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9695
Chemical/Pharm GKB GenePA128394554
Clinical trialEDEM1
Miscellaneous
canSAR (ICR)EDEM1 (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEDEM1
EVEXEDEM1
GoPubMedEDEM1
iHOPEDEM1
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 13:04:13 CET 2017

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