Entity Details

Primary name RFT1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96AA3
EntryNameRFT1_HUMAN
FullNameProtein RFT1 homolog
TaxID9606
Evidenceevidence at protein level
Length541
SequenceStatuscomplete
DateCreated2007-11-13
DateModified2021-06-02

Ontological Relatives

GenesRFT1

GO terms

Show/Hide Table
GOName
GO:0005789 endoplasmic reticulum membrane
GO:0006488 dolichol-linked oligosaccharide biosynthetic process
GO:0008643 carbohydrate transport
GO:0016021 integral component of membrane
GO:0034203 glycolipid translocation

Subcellular Location

Show/Hide Table
Subcellular Location
Membrane

Domains

Show/Hide Table
DomainNameCategoryType
IPR007594 RFT1FamilyFamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
612015 OMIMCongenital disorder of glycosylation 1N (CDG1N)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.