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Aliases for EDEM1 Gene

Aliases for EDEM1 Gene

  • ER Degradation Enhancing Alpha-Mannosidase Like Protein 1 2 3 5
  • ER Degradation Enhancer, Mannosidase Alpha-Like 1 2 3
  • EDEM 3 4
  • ER Degradation-Enhancing Alpha-Mannosidase-Like Protein 1 3
  • ER Degradation-Enhancing Alpha-Mannosidase-Like 1 3
  • KIAA0212 4

External Ids for EDEM1 Gene

Previous GeneCards Identifiers for EDEM1 Gene

  • GC03P005221
  • GC03P005204

Summaries for EDEM1 Gene

GeneCards Summary for EDEM1 Gene

EDEM1 (ER Degradation Enhancing Alpha-Mannosidase Like Protein 1) is a Protein Coding gene. Diseases associated with EDEM1 include Acute Pulmonary Heart Disease and Acute Cor Pulmonale. Among its related pathways are Protein processing in endoplasmic reticulum and Photodynamic therapy-induced unfolded protein response. GO annotations related to this gene include calcium ion binding and mannosyl-oligosaccharide 1,2-alpha-mannosidase activity. An important paralog of this gene is EDEM3.

UniProtKB/Swiss-Prot for EDEM1 Gene

  • Extracts misfolded glycoproteins, but not glycoproteins undergoing productive folding, from the calnexin cycle. It is directly involved in endoplasmic reticulum-associated degradation (ERAD) and targets misfolded glycoproteins for degradation in an N-glycan-independent manner, probably by forming a complex with SEL1L. It has low mannosidase activity, catalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2.

Gene Wiki entry for EDEM1 Gene

Additional gene information for EDEM1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EDEM1 Gene

Genomics for EDEM1 Gene

Regulatory Elements for EDEM1 Gene

Enhancers for EDEM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H005136 1.9 FANTOM5 Ensembl ENCODE dbSUPER 21.5 -48.9 -48934 5 PKNOX1 FOXA2 FEZF1 ZNF121 ZNF143 ATF7 RUNX3 PPARG KAT8 SSRP1 ARL8B EDEM1 ENSG00000233912 BHLHE40
GH03H005180 2 FANTOM5 Ensembl ENCODE dbSUPER 15.3 +3.0 2992 20 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ARL8B EDEM1 BHLHE40 ENSG00000268509 PIR54874
GH03H004993 2 FANTOM5 Ensembl ENCODE dbSUPER 14.1 -192.4 -192418 4 HDGF PKNOX1 ARNT YY1 ZNF766 FOS JUNB REST ZNF592 MEF2D ARL8B EDEM1 ENSG00000235978 SETMAR SUMF1 BHLHE40 BHLHE40-AS1 LOC105376934
GH03H005010 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14.2 -175.3 -175300 3 HDGF PKNOX1 ATF1 FOXA2 ARNT SIN3A TCF12 GATA2 ZNF143 ZNF207 EDEM1 BHLHE40 ARL8B LOC105376934 BHLHE40-AS1
GH03H005121 1.4 ENCODE dbSUPER 17 -64.2 -64168 3 HDGF FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 EDEM1 ARL8B ENSG00000233912 SETMAR
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EDEM1 on UCSC Golden Path with GeneCards custom track

Promoters for EDEM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000147999 754 3601 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207

Genomic Location for EDEM1 Gene

Chromosome:
3
Start:
5,187,646 bp from pter
End:
5,219,965 bp from pter
Size:
32,320 bases
Orientation:
Plus strand

Genomic View for EDEM1 Gene

Genes around EDEM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EDEM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EDEM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EDEM1 Gene

Proteins for EDEM1 Gene

  • Protein details for EDEM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92611-EDEM1_HUMAN
    Recommended name:
    ER degradation-enhancing alpha-mannosidase-like protein 1
    Protein Accession:
    Q92611
    Secondary Accessions:
    • A8K9C8
    • B4DXP3

    Protein attributes for EDEM1 Gene

    Size:
    657 amino acids
    Molecular mass:
    73768 Da
    Quaternary structure:
    • Interacts with DNAJC10 (By similarity). Interacts with DERL2 and DERL3. Binds to SEL1L.
    SequenceCaution:
    • Sequence=BAA13203.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for EDEM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EDEM1 Gene

Post-translational modifications for EDEM1 Gene

  • Ubiquitination at posLast=245245, posLast=279279, posLast=334334, isoforms=570, and posLast=596596
  • Glycosylation at isoforms=181, isoforms=2198, posLast=299299, posLast=342342, and isoforms=624
  • Modification sites at PhosphoSitePlus

Other Protein References for EDEM1 Gene

No data available for DME Specific Peptides for EDEM1 Gene

Domains & Families for EDEM1 Gene

Gene Families for EDEM1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for EDEM1 Gene

Graphical View of Domain Structure for InterPro Entry

Q92611

UniProtKB/Swiss-Prot:

EDEM1_HUMAN :
  • Belongs to the glycosyl hydrolase 47 family.
Family:
  • Belongs to the glycosyl hydrolase 47 family.
genes like me logo Genes that share domains with EDEM1: view

Function for EDEM1 Gene

Molecular function for EDEM1 Gene

UniProtKB/Swiss-Prot Function:
Extracts misfolded glycoproteins, but not glycoproteins undergoing productive folding, from the calnexin cycle. It is directly involved in endoplasmic reticulum-associated degradation (ERAD) and targets misfolded glycoproteins for degradation in an N-glycan-independent manner, probably by forming a complex with SEL1L. It has low mannosidase activity, catalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2.

Phenotypes From GWAS Catalog for EDEM1 Gene

Gene Ontology (GO) - Molecular Function for EDEM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004571 mannosyl-oligosaccharide 1,2-alpha-mannosidase activity TAS,IMP --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 16449189
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with EDEM1: view

Phenotypes for EDEM1 Gene

genes like me logo Genes that share phenotypes with EDEM1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for EDEM1

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for EDEM1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EDEM1 Gene

Localization for EDEM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDEM1 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EDEM1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 3
lysosome 2
plasma membrane 1
extracellular 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EDEM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IBA --
GO:0005783 endoplasmic reticulum IMP,IDA 21062743
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with EDEM1: view

Pathways & Interactions for EDEM1 Gene

genes like me logo Genes that share pathways with EDEM1: view

Pathways by source for EDEM1 Gene

Gene Ontology (GO) - Biological Process for EDEM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006491 N-glycan processing IBA --
GO:0006986 response to unfolded protein IEA --
GO:0008152 metabolic process IEA --
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process ISS --
GO:0036498 IRE1-mediated unfolded protein response TAS --
genes like me logo Genes that share ontologies with EDEM1: view

No data available for SIGNOR curated interactions for EDEM1 Gene

Drugs & Compounds for EDEM1 Gene

(1) Drugs for EDEM1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with EDEM1: view

Transcripts for EDEM1 Gene

Unigene Clusters for EDEM1 Gene

ER degradation enhancer, mannosidase alpha-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for EDEM1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for EDEM1 Gene

No ASD Table

Relevant External Links for EDEM1 Gene

GeneLoc Exon Structure for
EDEM1
ECgene alternative splicing isoforms for
EDEM1

Expression for EDEM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EDEM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EDEM1 Gene

This gene is overexpressed in Liver (x4.9).

Protein differential expression in normal tissues from HIPED for EDEM1 Gene

This gene is overexpressed in Skin (54.2) and Urine (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EDEM1 Gene



Protein tissue co-expression partners for EDEM1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EDEM1 Gene:

EDEM1

SOURCE GeneReport for Unigene cluster for EDEM1 Gene:

Hs.224616

Evidence on tissue expression from TISSUES for EDEM1 Gene

  • Bone marrow(4.3)
  • Skin(4.2)
  • Liver(2.3)
genes like me logo Genes that share expression patterns with EDEM1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EDEM1 Gene

Orthologs for EDEM1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EDEM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EDEM1 33 34
  • 99.37 (n)
cow
(Bos Taurus)
Mammalia EDEM1 33 34
  • 89.7 (n)
dog
(Canis familiaris)
Mammalia EDEM1 33 34
  • 88.71 (n)
rat
(Rattus norvegicus)
Mammalia Edem1 33
  • 88.7 (n)
mouse
(Mus musculus)
Mammalia Edem1 33 16 34
  • 88.44 (n)
oppossum
(Monodelphis domestica)
Mammalia EDEM1 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EDEM1 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves EDEM1 33 34
  • 78.05 (n)
lizard
(Anolis carolinensis)
Reptilia EDEM1 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia edem1 33
  • 71.72 (n)
MGC76118 33
zebrafish
(Danio rerio)
Actinopterygii edem1 33 34
  • 68.24 (n)
zgc55816 33
worm
(Caenorhabditis elegans)
Secernentea C47E12.3 33 34
  • 56.12 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MNL1 34 36
  • 27 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G27520 33
  • 51.99 (n)
rice
(Oryza sativa)
Liliopsida Os02g0741300 33
  • 50.63 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7485 34
  • 63 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mnl1 33
  • 50.4 (n)
Species where no ortholog for EDEM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EDEM1 Gene

ENSEMBL:
Gene Tree for EDEM1 (if available)
TreeFam:
Gene Tree for EDEM1 (if available)

Paralogs for EDEM1 Gene

Paralogs for EDEM1 Gene

(3) SIMAP similar genes for EDEM1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for EDEM1 Gene

genes like me logo Genes that share paralogs with EDEM1: view

Variants for EDEM1 Gene

Sequence variations from dbSNP and Humsavar for EDEM1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000008966 -- 5,187,170(+) CTCGA(C/T)ATGCA upstream-variant-2KB
rs1000067768 -- 5,190,998(+) GGTAT(C/G)CAACC intron-variant, upstream-variant-2KB
rs1000078715 -- 5,191,384(+) ATGCT(C/T)GGCTA intron-variant, upstream-variant-2KB
rs1000115509 -- 5,188,651(+) ACTTC(C/G)ATCCG intron-variant
rs1000144868 -- 5,217,943(+) GCGCT(C/T)CCCTC nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for EDEM1 Gene

Variant ID Type Subtype PubMed ID
dgv4657n100 CNV gain 25217958
esv2763733 CNV gain+loss 21179565
nsv1002376 CNV gain 25217958
nsv474326 CNV novel sequence insertion 20440878

Variation tolerance for EDEM1 Gene

Residual Variation Intolerance Score: 11.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.02; 50.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EDEM1 Gene

Human Gene Mutation Database (HGMD)
EDEM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EDEM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EDEM1 Gene

Disorders for EDEM1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for EDEM1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
acute pulmonary heart disease
  • acute pulmonary heart disease nos
acute cor pulmonale
- elite association - COSMIC cancer census association via MalaCards
Search EDEM1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EDEM1

Genetic Association Database (GAD)
EDEM1
Human Genome Epidemiology (HuGE) Navigator
EDEM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EDEM1
genes like me logo Genes that share disorders with EDEM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EDEM1 Gene

Publications for EDEM1 Gene

  1. A dual role for EDEM1 in the processing of rod opsin. (PMID: 19934218) Kosmaoglou M … Cheetham ME (Journal of cell science 2009) 3 4 22 60
  2. Role of EDEM in the release of misfolded glycoproteins from the calnexin cycle. (PMID: 12610306) Molinari M … Paganetti P (Science (New York, N.Y.) 2003) 2 3 4 60
  3. EDEM2 initiates mammalian glycoprotein ERAD by catalyzing the first mannose trimming step. (PMID: 25092655) Ninagawa S … Mori K (The Journal of cell biology 2014) 3 4 60
  4. EDEM1 recognition and delivery of misfolded proteins to the SEL1L-containing ERAD complex. (PMID: 19524542) Cormier JH … Hebert DN (Molecular cell 2009) 3 4 60
  5. EDEM accelerates ERAD by preventing aberrant dimer formation of misfolded alpha1-antitrypsin. (PMID: 16629899) Hosokawa N … Nagata K (Genes to cells : devoted to molecular & cellular mechanisms 2006) 3 22 60

Products for EDEM1 Gene

Sources for EDEM1 Gene

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