Endometriosis Knowledgebase

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Gene id

79694

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (95577496: 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 oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).[supplied by OMIM, Sep 2008]

OMIM

612327

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: 53,671

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
Pfam:	PF16317
CDD:	cd11574
STRING:	ENSP00000351669;

Other Databases

GeneCards: MANEA; Malacards: MANEA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000139	Golgi membrane	TAS	cellular_component
GO:0004569	glycoprotein endo-alpha-1 ,2-mannosidase activity	TAS	molecular_function
GO:0005794	Golgi apparatus	IDA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0000139	Golgi membrane	IEA	cellular_component
GO:0000139	Golgi membrane	TAS	cellular_component
GO:0004559	alpha-mannosidase activit y	IEA	molecular_function
GO:0004569	glycoprotein endo-alpha-1 ,2-mannosidase activity	IEA	molecular_function
GO:0004569	glycoprotein endo-alpha-1 ,2-mannosidase activity	TAS	molecular_function
GO:0005794	Golgi apparatus	IEA	cellular_component
GO:0005794	Golgi apparatus	IDA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016787	hydrolase activity	IEA	molecular_function
GO:0000139	Golgi membrane	TAS	cellular_component
GO:0004569	glycoprotein endo-alpha-1 ,2-mannosidase activity	TAS	molecular_function
GO:0005794	Golgi apparatus	IDA	cellular_component

Diseases

Associated diseases	References
Endometriosis	PMID: 10050665
Angiogenesis	INFBASE10050665
Endometriosis	INFBASE10050665

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
10050665	Endometrio sis					ENDO-I	Show abstract