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EDEM3 (ER degradation enhancer, mannosidase alpha-like 3)

Identity

Alias_namesC1orf22
chromosome 1 open reading frame 22
ER degradation enhancer, mannosidase alpha-like 3
Other alias
HGNC (Hugo) EDEM3
LocusID (NCBI) 80267
Atlas_Id 62728
Location 1q25.3  [Link to chromosome band 1q25]
Location_base_pair Starts at 184659625 and ends at 184724041 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
EDEM3 (1q25.3) / EDEM3 (1q25.3)EDEM3 (1q25.3) / GBAP1 (1q22)TBPL1 (6q23.2) / EDEM3 (1q25.3)

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)EDEM3   16787
Cards
Entrez_Gene (NCBI)EDEM3  80267  ER degradation enhancer, mannosidase alpha-like 3
AliasesC1orf22
GeneCards (Weizmann)EDEM3
Ensembl hg19 (Hinxton)ENSG00000116406 [Gene_View]  chr1:184659625-184724041 [Contig_View]  EDEM3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000116406 [Gene_View]  chr1:184659625-184724041 [Contig_View]  EDEM3 [Vega]
ICGC DataPortalENSG00000116406
TCGA cBioPortalEDEM3
AceView (NCBI)EDEM3
Genatlas (Paris)EDEM3
WikiGenes80267
SOURCE (Princeton)EDEM3
Genetics Home Reference (NIH)EDEM3
Genomic and cartography
GoldenPath hg19 (UCSC)EDEM3  -     chr1:184659625-184724041 -  1q25.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EDEM3  -     1q25.3   [Description]    (hg38-Dec_2013)
EnsemblEDEM3 - 1q25.3 [CytoView hg19]  EDEM3 - 1q25.3 [CytoView hg38]
Mapping of homologs : NCBIEDEM3 [Mapview hg19]  EDEM3 [Mapview hg38]
OMIM610214   
Gene and transcription
Genbank (Entrez)AF288393 AI521228 AK000945 AK023095 AK225171
RefSeq transcript (Entrez)NM_025191
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)EDEM3
Cluster EST : UnigeneHs.523811 [ NCBI ]
CGAP (NCI)Hs.523811
Alternative Splicing GalleryENSG00000116406
Gene ExpressionEDEM3 [ NCBI-GEO ]   EDEM3 [ EBI - ARRAY_EXPRESS ]   EDEM3 [ SEEK ]   EDEM3 [ MEM ]
Gene Expression Viewer (FireBrowse)EDEM3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80267
GTEX Portal (Tissue expression)EDEM3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BZQ6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BZQ6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BZQ6
Splice isoforms : SwissVarQ9BZQ6
Catalytic activity : Enzyme3.2.1.113 [ Enzyme-Expasy ]   3.2.1.1133.2.1.113 [ IntEnz-EBI ]   3.2.1.113 [ BRENDA ]   3.2.1.113 [ KEGG ]   
PhosPhoSitePlusQ9BZQ6
Domaine pattern : Prosite (Expaxy)ER_TARGET (PS00014)   
Domains : Interpro (EBI)Glyco_hydro_47    Protease-assoc_domain   
Domain families : Pfam (Sanger)Glyco_hydro_47 (PF01532)    PA (PF02225)   
Domain families : Pfam (NCBI)pfam01532    pfam02225   
Conserved Domain (NCBI)EDEM3
DMDM Disease mutations80267
Blocks (Seattle)EDEM3
SuperfamilyQ9BZQ6
Human Protein AtlasENSG00000116406
Peptide AtlasQ9BZQ6
HPRD10724
IPIIPI00009410   IPI00892978   IPI00177388   IPI00386002   
Protein Interaction databases
DIP (DOE-UCLA)Q9BZQ6
IntAct (EBI)Q9BZQ6
FunCoupENSG00000116406
BioGRIDEDEM3
STRING (EMBL)EDEM3
ZODIACEDEM3
Ontologies - Pathways
QuickGOQ9BZQ6
Ontology : AmiGOglycoprotein endo-alpha-1,2-mannosidase activity  mannosyl-oligosaccharide 1,2-alpha-mannosidase activity  calcium ion binding  endoplasmic reticulum lumen  endoplasmic reticulum membrane  protein folding  glycoprotein catabolic process  response to unfolded protein  protein N-linked glycosylation via asparagine  proteasome-mediated ubiquitin-dependent protein catabolic process  post-translational protein modification  cellular protein metabolic process  
Ontology : EGO-EBIglycoprotein endo-alpha-1,2-mannosidase activity  mannosyl-oligosaccharide 1,2-alpha-mannosidase activity  calcium ion binding  endoplasmic reticulum lumen  endoplasmic reticulum membrane  protein folding  glycoprotein catabolic process  response to unfolded protein  protein N-linked glycosylation via asparagine  proteasome-mediated ubiquitin-dependent protein catabolic process  post-translational protein modification  cellular protein metabolic process  
Pathways : KEGGProtein processing in endoplasmic reticulum   
NDEx NetworkEDEM3
Atlas of Cancer Signalling NetworkEDEM3
Wikipedia pathwaysEDEM3
Orthology - Evolution
OrthoDB80267
GeneTree (enSembl)ENSG00000116406
Phylogenetic Trees/Animal Genes : TreeFamEDEM3
HOVERGENQ9BZQ6
HOGENOMQ9BZQ6
Homologs : HomoloGeneEDEM3
Homology/Alignments : Family Browser (UCSC)EDEM3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEDEM3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EDEM3
dbVarEDEM3
ClinVarEDEM3
1000_GenomesEDEM3 
Exome Variant ServerEDEM3
ExAC (Exome Aggregation Consortium)EDEM3 (select the gene name)
Genetic variants : HAPMAP80267
Genomic Variants (DGV)EDEM3 [DGVbeta]
DECIPHER (Syndromes)1:184659625-184724041  ENSG00000116406
CONAN: Copy Number AnalysisEDEM3 
Mutations
ICGC Data PortalEDEM3 
TCGA Data PortalEDEM3 
Broad Tumor PortalEDEM3
OASIS PortalEDEM3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEDEM3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEDEM3
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 EDEM3
DgiDB (Drug Gene Interaction Database)EDEM3
DoCM (Curated mutations)EDEM3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EDEM3 (select a term)
intoGenEDEM3
Cancer3DEDEM3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610214   
Orphanet
MedgenEDEM3
Genetic Testing Registry EDEM3
NextProtQ9BZQ6 [Medical]
TSGene80267
GENETestsEDEM3
Huge Navigator EDEM3 [HugePedia]
snp3D : Map Gene to Disease80267
BioCentury BCIQEDEM3
ClinGenEDEM3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80267
Chemical/Pharm GKB GenePA38186
Clinical trialEDEM3
Miscellaneous
canSAR (ICR)EDEM3 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEDEM3
EVEXEDEM3
GoPubMedEDEM3
iHOPEDEM3
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 12:02:31 CET 2017

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