Entity Details

Primary name MPU1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO75352
EntryNameMPU1_HUMAN
FullNameMannose-P-dolichol utilization defect 1 protein
TaxID9606
Evidenceevidence at protein level
Length247
SequenceStatuscomplete
DateCreated2000-12-08
DateModified2021-06-02

Ontological Relatives

GenesMPDU1

GO terms

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GOName
GO:0005789 endoplasmic reticulum membrane
GO:0006457 protein folding
GO:0006488 dolichol-linked oligosaccharide biosynthetic process
GO:0009312 oligosaccharide biosynthetic process
GO:0016020 membrane
GO:0016021 integral component of membrane

Subcellular Location

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Subcellular Location
Membrane

Domains

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DomainNameCategoryType
IPR006603 PQ-loop repeatRepeatRepeat
IPR016817 Mannose-P-dolichol utilization defect 1 proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
609180 OMIMCongenital disorder of glycosylation 1F (CDG1F)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

3 interactions

InteractorPartnerSourcesPublicationsLink
MPU1_HUMANMANBL_HUMANBioGRID, IntAct32296183 details
MPU1_HUMANSHBG_HUMANBioGRID, HPRD15862967 details
MPU1_HUMANLSM1_HUMANBioGRID15231747 details