• Gene id: 9695

Gene Summary

• Gene Symbol: EDEM1   Gene   UCSC   Ensembl
• Aliases: EDEM
• Gene name: ER degradation enhancing alpha-mannosidase like protein 1
• Alternate names: ER degradation-enhancing alpha-mannosidase-like protein 1, ER degradation enhancer, mannosidase alpha-like 1, ER degradation-enhancing alpha-mannosidase-like 1,
• Gene location: 3p26.1 (5187706: 5219962)     Exons: 13     NC_000003.12
• OMIM: 602469

Protein Summary

• Protein general information: Q92611  
  • Name: ER degradation enhancing alpha mannosidase like protein 1
  • Length: 657  
  • Mass: 73768
• Sequence:

  MQWRALVLGLVLLRLGLHGVLWLVFGLGPSMGFYQRFPLSFGFQRLRSPDGPASPTSGPVGRPGGVSGPSWLQPP
  GTGAAQSPRKAPRRPGPGMCGPANWGYVLGGRGRGPDEYEKRYSGAFPPQLRAQMRDLARGMFVFGYDNYMAHAF
  PQDELNPIHCRGRGPDRGDPSNLNINDVLGNYSLTLVDALDTLAIMGNSSEFQKAVKLVINTVSFDKDSTVQVFE
  ATIRVLGSLLSAHRIITDSKQPFGDMTIKDYDNELLYMAHDLAVRLLPAFENTKTGIPYPRVNLKTGVPPDTNNE
  TCTAGAGSLLVEFGILSRLLGDSTFEWVARRAVKALWNLRSNDTGLLGNVVNIQTGHWVGKQSGLGAGLDSFYEY
  LLKSYILFGEKEDLEMFNAAYQSIQNYLRRGREACNEGEGDPPLYVNVNMFSGQLMNTWIDSLQAFFPGLQVLIG
  DVEDAICLHAFYYAIWKRYGALPERYNWQLQAPDVLFYPLRPELVESTYLLYQATKNPFYLHVGMDILQSLEKYT
  KVKCGYATLHHVIDKSTEDRMESFFLSETCKYLYLLFDEDNPVHKSGTRYMFTTEGHIVSVDEHLRELPWKEFFS
  EEGGQDQGGKSVHRPKPHELKVINSSSNCNRVPDERRYSLPLKSIYMRQIDQMVGLI

• Structural information:
  • Interpro: IPR012341  IPR001382  IPR036026  
  • STRING: ENSP00000256497
• Other Databases: GeneCards:  EDEM1  Malacards:  EDEM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904382	mannose trimming involved in glycoprotein ERAD pathway	IMP	biological process
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IMP	molecular function
GO:0005783	endoplasmic reticulum	IMP	cellular component
GO:1904154	positive regulation of retrograde protein transport, ER to cytosol	IGI	biological process
GO:1904154	positive regulation of retrograde protein transport, ER to cytosol	IMP	biological process
GO:0097466	ubiquitin-dependent glycoprotein ERAD pathway	IMP	biological process
GO:0097466	ubiquitin-dependent glycoprotein ERAD pathway	IMP	biological process
GO:0051787	misfolded protein binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006986	response to unfolded protein	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:1904382	mannose trimming involved in glycoprotein ERAD pathway	TAS	biological process
GO:1904154	positive regulation of retrograde protein transport, ER to cytosol	IEA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IEA	cellular component
GO:0036510	trimming of terminal mannose on C branch	IEA	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0016235	aggresome	IDA	cellular component
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IDA	NOT|molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030433	ubiquitin-dependent ERAD pathway	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030176	integral component of endoplasmic reticulum membrane	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray