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EDEM3
HPA
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  • EDEM3
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

EDEM3
Synonyms C1orf22
Gene descriptioni

Full gene name according to HGNC.

ER degradation enhancing alpha-mannosidase like protein 3
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Enzymes
Human disease related genes
Potential drug targets
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 1
Cytoband q25.3
Chromosome location (bp) 184690237 - 184754907
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

7
Ensembl ENSG00000116406 (version 109)
Entrez gene 80267
HGNC HGNC:16787
UniProt Q9BZQ6 (UniProt - Evidence at protein level)
neXtProt NX_Q9BZQ6
GeneCards EDEM3
Antibodypedia EDEM3 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

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 1. May also participate in mannose trimming from all glycoproteins and not just misfolded ones targeted to ERAD 2. May have alpha 1,2-mannosidase activity (By similarity).... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Hydrolase
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Unfolded protein response
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

Metal-binding
Gene summary (Entrez)i

Useful information about the gene from Entrez

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).[supplied by OMIM, Mar 2008]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
EDEM3-201
ENSP00000318147
ENST00000318130
Q9BZQ6
[Direct mapping] ER degradation-enhancing alpha-mannosidase-like protein 3
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   MEMSAT3 predicted membrane proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
   DeepTMHMM predicted secreted proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of glycan/glycoprotein metabolism
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004559 [alpha-mannosidase activity]
GO:0004571 [mannosyl-oligosaccharide 1,2-alpha-mannosidase activity]
GO:0005509 [calcium ion binding]
GO:0005783 [endoplasmic reticulum]
GO:0005788 [endoplasmic reticulum lumen]
GO:0005975 [carbohydrate metabolic process]
GO:0006486 [protein glycosylation]
GO:0006986 [response to unfolded protein]
GO:0016020 [membrane]
GO:0016787 [hydrolase activity]
GO:0036508 [protein alpha-1,2-demannosylation]
GO:0044322 [endoplasmic reticulum quality control compartment]
GO:0046872 [metal ion binding]
GO:1904380 [endoplasmic reticulum mannose trimming]
GO:1904382 [mannose trimming involved in glycoprotein ERAD pathway]
Show all
932 aa
104.7 kDa
Yes 0
EDEM3-202
ENSP00000356482
ENST00000367512
A0A8J8YX80
[Direct mapping] ER degradation-enhancing alpha-mannosidase-like protein 3
Show all
   MEMSAT3 predicted membrane proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
   DeepTMHMM predicted secreted proteins
Predicted intracellular proteins
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of glycan/glycoprotein metabolism
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004571 [mannosyl-oligosaccharide 1,2-alpha-mannosidase activity]
GO:0005509 [calcium ion binding]
GO:0005783 [endoplasmic reticulum]
GO:0005975 [carbohydrate metabolic process]
GO:0006986 [response to unfolded protein]
GO:0008152 [metabolic process]
GO:0016020 [membrane]
GO:0016787 [hydrolase activity]
GO:0016798 [hydrolase activity, acting on glycosyl bonds]
GO:0036508 [protein alpha-1,2-demannosylation]
GO:0044322 [endoplasmic reticulum quality control compartment]
GO:0046872 [metal ion binding]
GO:1904380 [endoplasmic reticulum mannose trimming]
GO:1904382 [mannose trimming involved in glycoprotein ERAD pathway]
Show all
948 aa
106.4 kDa
Yes 0
EDEM3-208
ENSP00000510056
ENST00000685596
A0A8I5KSQ8
[Direct mapping] alpha-1,2-Mannosidase
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of glycan/glycoprotein metabolism
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004571 [mannosyl-oligosaccharide 1,2-alpha-mannosidase activity]
GO:0005509 [calcium ion binding]
GO:0005783 [endoplasmic reticulum]
GO:0005975 [carbohydrate metabolic process]
GO:0006986 [response to unfolded protein]
GO:0008152 [metabolic process]
GO:0016020 [membrane]
GO:0016787 [hydrolase activity]
GO:0016798 [hydrolase activity, acting on glycosyl bonds]
GO:0036508 [protein alpha-1,2-demannosylation]
GO:0044322 [endoplasmic reticulum quality control compartment]
GO:0046872 [metal ion binding]
GO:1904380 [endoplasmic reticulum mannose trimming]
GO:1904382 [mannose trimming involved in glycoprotein ERAD pathway]
Show all
875 aa
98.7 kDa
No 0
EDEM3-209
ENSP00000508800
ENST00000686047
A0A8I5KR65
[Direct mapping] alpha-1,2-Mannosidase
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of glycan/glycoprotein metabolism
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004571 [mannosyl-oligosaccharide 1,2-alpha-mannosidase activity]
GO:0005509 [calcium ion binding]
GO:0005783 [endoplasmic reticulum]
GO:0005975 [carbohydrate metabolic process]
GO:0006986 [response to unfolded protein]
GO:0008152 [metabolic process]
GO:0016020 [membrane]
GO:0016787 [hydrolase activity]
GO:0016798 [hydrolase activity, acting on glycosyl bonds]
GO:0036508 [protein alpha-1,2-demannosylation]
GO:0044322 [endoplasmic reticulum quality control compartment]
GO:0046872 [metal ion binding]
GO:1904380 [endoplasmic reticulum mannose trimming]
GO:1904382 [mannose trimming involved in glycoprotein ERAD pathway]
Show all
871 aa
98 kDa
No 0
EDEM3-210
ENSP00000509786
ENST00000686225
A0A8I5KTR7
[Direct mapping] alpha-1,2-Mannosidase
Show all
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
   DeepTMHMM predicted secreted proteins
Predicted intracellular proteins
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of glycan/glycoprotein metabolism
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004571 [mannosyl-oligosaccharide 1,2-alpha-mannosidase activity]
GO:0005509 [calcium ion binding]
GO:0005783 [endoplasmic reticulum]
GO:0005975 [carbohydrate metabolic process]
GO:0006986 [response to unfolded protein]
GO:0008152 [metabolic process]
GO:0016020 [membrane]
GO:0016787 [hydrolase activity]
GO:0016798 [hydrolase activity, acting on glycosyl bonds]
GO:0036508 [protein alpha-1,2-demannosylation]
GO:0044322 [endoplasmic reticulum quality control compartment]
GO:0046872 [metal ion binding]
GO:1904380 [endoplasmic reticulum mannose trimming]
GO:1904382 [mannose trimming involved in glycoprotein ERAD pathway]
Show all
957 aa
107.6 kDa
Yes 0
EDEM3-211
ENSP00000509571
ENST00000687113
A0A8I5KWI4
[Direct mapping] alpha-1,2-Mannosidase
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of glycan/glycoprotein metabolism
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004571 [mannosyl-oligosaccharide 1,2-alpha-mannosidase activity]
GO:0005509 [calcium ion binding]
GO:0005783 [endoplasmic reticulum]
GO:0005975 [carbohydrate metabolic process]
GO:0006986 [response to unfolded protein]
GO:0008152 [metabolic process]
GO:0016020 [membrane]
GO:0016787 [hydrolase activity]
GO:0016798 [hydrolase activity, acting on glycosyl bonds]
GO:0036508 [protein alpha-1,2-demannosylation]
GO:0044322 [endoplasmic reticulum quality control compartment]
GO:0046872 [metal ion binding]
GO:1904380 [endoplasmic reticulum mannose trimming]
GO:1904382 [mannose trimming involved in glycoprotein ERAD pathway]
Show all
855 aa
96.3 kDa
No 0
EDEM3-216
ENSP00000508652
ENST00000692170
A0A8I5KVE6
[Direct mapping] alpha-1,2-Mannosidase
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of glycan/glycoprotein metabolism
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004571 [mannosyl-oligosaccharide 1,2-alpha-mannosidase activity]
GO:0005509 [calcium ion binding]
GO:0005783 [endoplasmic reticulum]
GO:0005975 [carbohydrate metabolic process]
GO:0006986 [response to unfolded protein]
GO:0008152 [metabolic process]
GO:0016020 [membrane]
GO:0016787 [hydrolase activity]
GO:0016798 [hydrolase activity, acting on glycosyl bonds]
GO:0036508 [protein alpha-1,2-demannosylation]
GO:0044322 [endoplasmic reticulum quality control compartment]
GO:0046872 [metal ion binding]
GO:1904380 [endoplasmic reticulum mannose trimming]
GO:1904382 [mannose trimming involved in glycoprotein ERAD pathway]
Show all
870 aa
97.9 kDa
No 0

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