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Aliases for EDEM3 Gene

Aliases for EDEM3 Gene

  • ER Degradation Enhancing Alpha-Mannosidase Like Protein 3 2 3
  • ER Degradation Enhancer, Mannosidase Alpha-Like 3 2 3 5
  • Alpha-1,2-Mannosidase EDEM3 3 4
  • C1orf22 3 4
  • ER Degradation-Enhancing -Mannosidase-Like Protein 3 3
  • ER Degradation-Enhancing Alpha-Mannosidase-Like 3 3
  • Chromosome 1 Open Reading Frame 22 2
  • EC 3.2.1.113 4

External Ids for EDEM3 Gene

Previous HGNC Symbols for EDEM3 Gene

  • C1orf22

Previous GeneCards Identifiers for EDEM3 Gene

  • GC01M182925
  • GC01M155896

Summaries for EDEM3 Gene

Entrez Gene Summary for EDEM3 Gene

  • Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM, Mar 2008]

GeneCards Summary for EDEM3 Gene

EDEM3 (ER Degradation Enhancing Alpha-Mannosidase Like Protein 3) is a Protein Coding gene. Among its related pathways are Transport to the Golgi and subsequent modification and Protein processing in endoplasmic reticulum. GO annotations related to this gene include calcium ion binding and glycoprotein endo-alpha-1,2-mannosidase activity. An important paralog of this gene is EDEM2.

UniProtKB/Swiss-Prot for EDEM3 Gene

  • Involved in endoplasmic reticulum-associated degradation (ERAD). Accelerates the glycoprotein ERAD by proteasomes, by catalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2 in the N-glycans. Seems to have alpha 1,2-mannosidase activity (By similarity).

Gene Wiki entry for EDEM3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EDEM3 Gene

Genomics for EDEM3 Gene

Regulatory Elements for EDEM3 Gene

Promoters for EDEM3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EDEM3 on UCSC Golden Path with GeneCards custom track

Genomic Location for EDEM3 Gene

Chromosome:
1
Start:
184,690,231 bp from pter
End:
184,754,913 bp from pter
Size:
64,683 bases
Orientation:
Minus strand

Genomic View for EDEM3 Gene

Genes around EDEM3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EDEM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EDEM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EDEM3 Gene

Proteins for EDEM3 Gene

  • Protein details for EDEM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZQ6-EDEM3_HUMAN
    Recommended name:
    ER degradation-enhancing alpha-mannosidase-like protein 3
    Protein Accession:
    Q9BZQ6
    Secondary Accessions:
    • B2RCH6
    • B7ZLZ2
    • Q0VGM5
    • Q5TEZ0
    • Q7L2Y5
    • Q9HCW1
    • Q9UFV7

    Protein attributes for EDEM3 Gene

    Size:
    932 amino acids
    Molecular mass:
    104664 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG60613.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAG37573.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for EDEM3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EDEM3 Gene

Proteomics data for EDEM3 Gene at MOPED

Post-translational modifications for EDEM3 Gene

  • Ubiquitination at Lys 435
  • Glycosylation at Asn 118, Asn 195, Asn 504, Asn 511, Asn 810, Asn 814, and Asn 900
  • Modification sites at PhosphoSitePlus

Other Protein References for EDEM3 Gene

No data available for DME Specific Peptides for EDEM3 Gene

Domains & Families for EDEM3 Gene

Protein Domains for EDEM3 Gene

Suggested Antigen Peptide Sequences for EDEM3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BZQ6

UniProtKB/Swiss-Prot:

EDEM3_HUMAN :
  • Contains a protease-associated domain (PA) of unknown function.
  • Belongs to the glycosyl hydrolase 47 family.
Domain:
  • Contains a protease-associated domain (PA) of unknown function.
  • Contains 1 PA (protease associated) domain.
Family:
  • Belongs to the glycosyl hydrolase 47 family.
genes like me logo Genes that share domains with EDEM3: view

No data available for Gene Families for EDEM3 Gene

Function for EDEM3 Gene

Molecular function for EDEM3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of the terminal (1->2)-linked alpha-D-mannose residues in the oligo-mannose oligosaccharide Man(9)(GlcNAc)(2).
UniProtKB/Swiss-Prot Function:
Involved in endoplasmic reticulum-associated degradation (ERAD). Accelerates the glycoprotein ERAD by proteasomes, by catalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2 in the N-glycans. Seems to have alpha 1,2-mannosidase activity (By similarity).

Enzyme Numbers (IUBMB) for EDEM3 Gene

Gene Ontology (GO) - Molecular Function for EDEM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004569 glycoprotein endo-alpha-1,2-mannosidase activity IEA --
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with EDEM3: view

Phenotypes for EDEM3 Gene

genes like me logo Genes that share phenotypes with EDEM3: view

Animal Model Products

miRNA for EDEM3 Gene

miRTarBase miRNAs that target EDEM3

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EDEM3 Gene

Localization for EDEM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDEM3 Gene

Endoplasmic reticulum lumen.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EDEM3 Gene COMPARTMENTS Subcellular localization image for EDEM3 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 3
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for EDEM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0044322 endoplasmic reticulum quality control compartment TAS --
genes like me logo Genes that share ontologies with EDEM3: view

Pathways & Interactions for EDEM3 Gene

genes like me logo Genes that share pathways with EDEM3: view

UniProtKB/Swiss-Prot Q9BZQ6-EDEM3_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for EDEM3 Gene

Gene Ontology (GO) - Biological Process for EDEM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0006491 N-glycan processing IBA --
GO:0008152 metabolic process IEA --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0030968 endoplasmic reticulum unfolded protein response IBA --
genes like me logo Genes that share ontologies with EDEM3: view

No data available for SIGNOR curated interactions for EDEM3 Gene

Drugs & Compounds for EDEM3 Gene

No Compound Related Data Available

Transcripts for EDEM3 Gene

Unigene Clusters for EDEM3 Gene

ER degradation enhancer, mannosidase alpha-like 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EDEM3 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: - -
SP2:
SP3: - -

Relevant External Links for EDEM3 Gene

GeneLoc Exon Structure for
EDEM3
ECgene alternative splicing isoforms for
EDEM3

Expression for EDEM3 Gene

mRNA expression in normal human tissues for EDEM3 Gene

Protein differential expression in normal tissues from HIPED for EDEM3 Gene

This gene is overexpressed in Stomach (38.3) and Pancreas (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EDEM3 Gene



SOURCE GeneReport for Unigene cluster for EDEM3 Gene Hs.523811

genes like me logo Genes that share expression patterns with EDEM3: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for EDEM3 Gene

Orthologs for EDEM3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for EDEM3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EDEM3 35
  • 99.68 (n)
  • 99.46 (a)
EDEM3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EDEM3 36
  • 96 (a)
OneToOne
EDEM3 35
  • 93.61 (n)
  • 96.3 (a)
dog
(Canis familiaris)
Mammalia EDEM3 35
  • 95.06 (n)
  • 97.32 (a)
EDEM3 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Edem3 16
Edem3 36
  • 95 (a)
OneToOne
Edem3 35
  • 89 (n)
  • 94.73 (a)
oppossum
(Monodelphis domestica)
Mammalia EDEM3 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EDEM3 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Edem3 35
  • 88.54 (n)
  • 93.56 (a)
chicken
(Gallus gallus)
Aves EDEM3 36
  • 85 (a)
OneToOne
EDEM3 35
  • 80.72 (n)
  • 86.81 (a)
lizard
(Anolis carolinensis)
Reptilia EDEM3 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia edem3 35
  • 73.86 (n)
  • 80.97 (a)
zebrafish
(Danio rerio)
Actinopterygii EDEM3 36
  • 69 (a)
OneToOne
edem3 35
  • 66.21 (n)
  • 71.69 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008749 35
  • 53.54 (n)
  • 54.36 (a)
fruit fly
(Drosophila melanogaster)
Insecta Edem2 36
  • 49 (a)
OneToOne
Edem2 35
  • 54.8 (n)
  • 51.98 (a)
worm
(Caenorhabditis elegans)
Secernentea ZC506.1 35
  • 55.93 (n)
  • 52.11 (a)
ZC506.1 36
  • 42 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MNL1 36
  • 27 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2482 35
Species with no ortholog for EDEM3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EDEM3 Gene

ENSEMBL:
Gene Tree for EDEM3 (if available)
TreeFam:
Gene Tree for EDEM3 (if available)

Paralogs for EDEM3 Gene

Paralogs for EDEM3 Gene

(6) SIMAP similar genes for EDEM3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with EDEM3: view

Variants for EDEM3 Gene

Sequence variations from dbSNP and Humsavar for EDEM3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs9425343 - 184,694,403(+) ATGAA(A/C)TCTGT reference, missense
rs1040666 -- 184,725,449(-) TTAAG(G/T)TTTTG intron-variant
rs1046239 -- 184,691,071(-) TAAAA(A/T)GAAAA utr-variant-3-prime
rs2064609 -- 184,704,484(+) cttct(C/T)tacta intron-variant
rs2024767 -- 184,736,303(+) AAGCC(C/T)AGTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EDEM3 Gene

Variant ID Type Subtype PubMed ID
nsv832037 CNV Gain 17160897
nsv832048 CNV Loss 17160897
nsv508053 CNV Loss 20534489
nsv872584 CNV Loss 21882294
esv2720184 CNV Deletion 23290073
esv2720195 CNV Deletion 23290073

Variation tolerance for EDEM3 Gene

Residual Variation Intolerance Score: 15.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.47; 64.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EDEM3 Gene

HapMap Linkage Disequilibrium report
EDEM3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EDEM3 Gene

Disorders for EDEM3 Gene

Relevant External Links for EDEM3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EDEM3

No disorders were found for EDEM3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EDEM3 Gene

Publications for EDEM3 Gene

  1. EDEM2 initiates mammalian glycoprotein ERAD by catalyzing the first mannose trimming step. (PMID: 25092655) Ninagawa S. … Mori K. (J. Cell Biol. 2014) 3 4 67
  2. A novel stress-induced EDEM variant regulating endoplasmic reticulum- associated glycoprotein degradation. (PMID: 15579471) Olivari S. … Molinari M. (J. Biol. Chem. 2005) 2 3
  3. Human EDEM2, a novel homolog of family 47 glycosidases, is involved in ER-associated degradation of glycoproteins. (PMID: 15537790) Mast S.W. … Moremen K.W. (Glycobiology 2005) 2 3
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. (PMID: 24871463) Armstrong D.L. … Jacob C.O. (Genes Immun. 2014) 3

Products for EDEM3 Gene

Sources for EDEM3 Gene

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