InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RFT1

Summary

InnateDB Protein

IDBP-40023.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RFT1

Protein Name

RFT1 homolog (S. cerevisiae)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000296292

InnateDB Gene

IDBG-40021 (RFT1)

Protein Structure

UniProt Annotation

Function

May be involved in N-linked oligosaccharide assembly. May participate in the translocation of oligosaccharide from the cytoplasmic side to the lumenal side of the endoplasmic reticulum membrane. {ECO:0000269PubMed:18313027}.

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.

Disease Associations

Congenital disorder of glycosylation 1N (CDG1N) [MIM:612015]: 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. {ECO:0000269PubMed:18313027, ECO:0000269PubMed:19701946}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005319	lipid transporter activity

Biological Process

GO:0006488	dolichol-linked oligosaccharide biosynthetic process
GO:0006869	lipid transport
GO:0008643	carbohydrate transport
GO:0018279	protein N-linked glycosylation via asparagine
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process