Entity Details

Primary name ALG11_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ2TAA5
EntryNameALG11_HUMAN
FullNameGDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase
TaxID9606
Evidenceevidence at protein level
Length492
SequenceStatuscomplete
DateCreated2007-07-24
DateModified2021-06-02

Ontological Relatives

GenesALG11

GO terms

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GOName
GO:0004377 GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity
GO:0005789 endoplasmic reticulum membrane
GO:0006487 protein N-linked glycosylation
GO:0006490 oligosaccharide-lipid intermediate biosynthetic process
GO:0016020 membrane
GO:0016021 integral component of membrane

Subcellular Location

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Subcellular Location
Endoplasmic reticulum
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR001296 Glycosyl transferase, family 1DomainDomain
IPR031814 ALG11 mannosyltransferase, N-terminalDomainDomain
IPR038013 ALG11 mannosyltransferaseFamilyFamily

Diseases

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Disease IDSourceNameDescription
613661 OMIMCongenital disorder of glycosylation 1P (CDG1P)A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
ALG11_HUMANUB2G2_HUMANIntAct17353931 details