Entity Details

Primary name PIGB_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ92521
EntryNamePIGB_HUMAN
FullNameGPI mannosyltransferase 3
TaxID9606
Evidenceevidence at protein level
Length554
SequenceStatuscomplete
DateCreated2006-07-25
DateModified2021-06-02

Ontological Relatives

GenesPIGB

GO terms

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GOName
GO:0000026 alpha-1,2-mannosyltransferase activity
GO:0000030 mannosyltransferase activity
GO:0004376 glycolipid mannosyltransferase activity
GO:0005789 endoplasmic reticulum membrane
GO:0006506 GPI anchor biosynthetic process
GO:0016021 integral component of membrane
GO:0016254 preassembly of GPI anchor in ER membrane
GO:0097502 mannosylation

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR005599 GPI mannosyltransferaseFamilyFamily
IPR039521 GPI mannosyltransferase 3FamilyFamily

Diseases

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Disease IDSourceNameDescription
618580 OMIMDevelopmental and epileptic encephalopathy 80 (DEE80)A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE80 is an autosomal recessive form characterized by onset of refractory seizures in the first year of life, severe global developmental delay and/or intellectual disability. Additional variable features include polyneuropathy, hearing loss, visual impairment, dysmorphic or coarse facial features, and distal skeletal abnormalities. The disease is caused by variants affecting the gene represented in this entry.

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