• Gene id: 79694

Gene Summary

• Gene Symbol: MANEA   Gene   UCSC   Ensembl
• Aliases: ENDO, hEndo
• Gene name: mannosidase endo-alpha
• Alternate names: glycoprotein endo-alpha-1,2-mannosidase, alpha 1,2-endomannosidase, endo-alpha mannosidase, endomannosidase, mandaselin,
• Gene location: 6q16.1 (95577534: 95609451)     Exons: 6     NC_000006.12
• Gene summary(Entrez): N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosacchar

Protein Summary

• Protein general information: Q5SRI9  
  • Name: Glycoprotein endo alpha 1,2 mannosidase (Endo alpha mannosidase) (Endomannosidase) (hEndo) (EC 3.2.1.130) (Mandaselin)
  • Length: 462  
  • Mass: 53671
  • Tissue specificity: Highly expressed in the liver and kidney. Expressed at lower levels in muscle, pancreas, heart, placenta, lung and brain. {ECO
• Sequence:

  MAKFRRRTCIILALFILFIFSLMMGLKMLRPNTATFGAPFGLDLLPELHQRTIHLGKNFDFQKSDRINSETNTKN
  LKSVEITMKPSKASELNLDELPPLNNYLHVFYYSWYGNPQFDGKYIHWNHPVLEHWDPRIAKNYPQGRHNPPDDI
  GSSFYPELGSYSSRDPSVIETHMRQMRSASIGVLALSWYPPDVNDENGEPTDNLVPTILDKAHKYNLKVTFHIEP
  YSNRDDQNMYKNVKYIIDKYGNHPAFYRYKTKTGNALPMFYVYDSYITKPEKWANLLTTSGSRSIRNSPYDGLFI
  ALLVEEKHKYDILQSGFDGIYTYFATNGFTYGSSHQNWASLKLFCDKYNLIFIPSVGPGYIDTSIRPWNTQNTRN
  RINGKYYEIGLSAALQTRPSLISITSFNEWHEGTQIEKAVPKRTSNTVYLDYRPHKPGLYLELTRKWSEKYSKER
  ATYALDRQLPVS

• Structural information:
  • Interpro: IPR026071  IPR017853  
  • CDD: cd11574
  • STRING: ENSP00000351669
• Other Databases: GeneCards:  MANEA  Malacards:  MANEA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004559	alpha-mannosidase activity	IBA	molecular function
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004569	glycoprotein endo-alpha-1,2-mannosidase activity	IEA	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0004569	glycoprotein endo-alpha-1,2-mannosidase activity	TAS	molecular function
GO:0004559	alpha-mannosidase activity	IEA	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq