• Gene id: 80267

Gene Summary

• Gene Symbol: EDEM3   Gene   UCSC   Ensembl
• Aliases: C1orf22
• Gene name: ER degradation enhancing alpha-mannosidase like protein 3
• Alternate names: ER degradation-enhancing alpha-mannosidase-like protein 3, ER degradation enhancer, mannosidase alpha-like 3, ER degradation-enhancing -mannosidase-like protein 3, ER degradation-enhancing alpha-mannosidase-like 3, alpha-1,2-mannosidase EDEM3,
• Gene location: 1q25.3 (184754906: 184690236)     Exons: 21     NC_000001.11
• Gene summary(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 degradatio
• OMIM: 610214

Protein Summary

• Protein general information: Q9BZQ6  
  • Name: ER degradation enhancing alpha mannosidase like protein 3 (EC 3.2.1.113) (Alpha 1,2 mannosidase EDEM3)
  • Length: 932  
  • Mass: 104664
• Sequence:

  MSEAGGRGCGSPVPQRARWRLVAATAAFCLVSATSVWTAGAEPMSREEKQKLGNQVLEMFDHAYGNYMEHAYPAD
  ELMPLTCRGRVRGQEPSRGDVDDALGKFSLTLIDSLDTLVVLNKTKEFEDAVRKVLRDVNLDNDVVVSVFETNIR
  VLGGLLGGHSLAIMLKEKGEYMQWYNDELLQMAKQLGYKLLPAFNTTSGLPYPRINLKFGIRKPEARTGTETDTC
  TACAGTLILEFAALSRFTGATIFEEYARKALDFLWEKRQRSSNLVGVTINIHTGDWVRKDSGVGAGIDSYYEYLL
  KAYVLLGDDSFLERFNTHYDAIMRYISQPPLLLDVHIHKPMLNARTWMDALLAFFPGLQVLKGDIRPAIETHEML
  YQVIKKHNFLPEAFTTDFRVHWAQHPLRPEFAESTYFLYKATGDPYYLEVGKTLIENLNKYARVPCGFAAMKDVR
  TGSHEDRMDSFFLAEMFKYLYLLFADKEDIIFDIEDYIFTTEAHLLPLWLSTTNQSISKKNTTSEYTELDDSNFD
  WTCPNTQILFPNDPLYAQSIREPLKNVVDKSCPRGIIRVEESFRSGAKPPLRARDFMATNPEHLEILKKMGVSLI
  HLKDGRVQLVQHAIQAASSIDAEDGLRFMQEMIELSSQQQKEQQLPPRAVQIVSHPFFGRVVLTAGPAQFGLDLS
  KHKETRGFVASSKPSNGCSELTNPEAVMGKIALIQRGQCMFAEKARNIQNAGAIGGIVIDDNEGSSSDTAPLFQM
  AGDGKDTDDIKIPMLFLFSKEGSIILDAIREYEEVEVLLSDKAKDRDPEMENEEQPSSENDSQNQSGEQISSSSQ
  EVDLVDQESSEENSLNSHPESLSLADMDNAASISPSEQTSNPTENHETTNLNGECTDLDNQLQEQSETEEDSNPN
  VSWGKKVQPIDSILADWNEDIEAFEMMEKDEL

• Structural information:
  • Protein Domains: (674..77-)
    (/note="PA"-)
  • Interpro: IPR012341  IPR037322  IPR001382  IPR003137  IPR036026  
  • Prosite: PS00014
  • CDD: cd02126
  • STRING: ENSP00000318147
• Other Databases: GeneCards:  EDEM3  Malacards:  EDEM3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IMP	molecular function
GO:1904382	mannose trimming involved in glycoprotein ERAD pathway	IMP	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:1904382	mannose trimming involved in glycoprotein ERAD pathway	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006986	response to unfolded protein	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IEA	molecular function
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:1904382	mannose trimming involved in glycoprotein ERAD pathway	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:1904382	mannose trimming involved in glycoprotein ERAD pathway	IEA	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0006516	glycoprotein catabolic process	IEA	biological process
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IEA	molecular function
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)