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RFT1 glycolipid translocator homolog

Summary

Gene Symbol

RFT1

Aliases

CDG1N
congenital disorder of glycosylation 1N

Organism

Homo sapiens (human)

External Links

NCBI Gene

91869

HGNC

30220

KEGG Gene ID

hsa:91869

PubChem

91869

Alliance of Genome Resources

HGNC:30220

JoGo

RFT1

TogoVar

RFT1

Annotation

Keyword

Congenital disorder of glycosylation
Disease variant
Endoplasmic reticulum
Proteomics identification
Reference proteome
Sugar transport
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q96AA3	Protein RFT1 homolog

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
protein N-linked glycosylation	IMP
dolichol-linked oligosaccharide biosynthetic process	IMP
dolichol-linked oligosaccharide biosynthetic process	IEA
glycolipid translocation	IDA
glycolipid translocation	IGI

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

biosynthetic process [inference]

macromolecule biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

protein N-linked glycosylation

carbohydrate derivative biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

glycoprotein biosynthetic process [inference]

protein N-linked glycosylation

macromolecule metabolic process [inference]

macromolecule biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

protein N-linked glycosylation

protein metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process [inference]

protein N-linked glycosylation

primary metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process [inference]

protein N-linked glycosylation

carbohydrate derivative metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process [inference]

protein N-linked glycosylation

carbohydrate derivative biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

glycoprotein biosynthetic process [inference]

protein N-linked glycosylation

cellular component organization or biogenesis [inference]

cellular component organization [inference]

membrane organization [inference]

regulation of membrane lipid distribution [inference]

lipid translocation [inference]

glycolipid translocation

localization [inference]

establishment of localization [inference]

transport [inference]

lipid transport [inference]

lipid translocation [inference]

glycolipid translocation

glycolipid transport [inference]

glycolipid translocation

carbohydrate derivative transport [inference]

glycolipid transport [inference]

glycolipid translocation

biological regulation [inference]

regulation of biological quality [inference]

regulation of membrane lipid distribution [inference]

lipid translocation [inference]

glycolipid translocation

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
endoplasmic reticulum membrane	ISS
endoplasmic reticulum membrane	TAS
endoplasmic reticulum membrane	IGI
endoplasmic reticulum membrane	IBA
endoplasmic reticulum membrane	IEA

GO Hierarchy

cellular component

cellular anatomical structure [inference]

membrane

organelle membrane [inference]

endoplasmic reticulum membrane

Displaying **all 3** entries
GO Term	Evidence Code	PMID
protein binding	IPI
glycolipid floppase activity	TAS
glycolipid floppase activity	IDA

GO Hierarchy

molecular function

transporter activity [inference]

intramembrane lipid carrier activity [inference]

ATPase-coupled intramembrane lipid carrier activity [inference]

floppase activity [inference]

glycolipid floppase activity

binding [inference]

protein binding

molecular carrier activity [inference]

lipid carrier activity [inference]

intramembrane lipid carrier activity [inference]

ATPase-coupled intramembrane lipid carrier activity [inference]

floppase activity [inference]

glycolipid floppase activity

ATP-dependent activity [inference]

ATPase-coupled intramembrane lipid carrier activity [inference]

floppase activity [inference]

glycolipid floppase activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

RFT1 protein

Functional Category

E: Amino acid transport and metabolism
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 2** entries
Gene Ontology
dolichol-linked oligosaccharide biosynthetic process
glycolipid translocation

Displaying 1 entry
InterPro
RFT1

Human Protein Atlas

ENSG00000163933

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K06316

Name

oligosaccharide translocation protein RFT1

References

18313027

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0080566	congenital disorder of glycosylation In	Glyco-Disease Genes Database Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 37 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000347	Micrognathia
HP:0000365	Hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000470	Short neck
HP:0000505	Visual impairment
HP:0000932	Abnormal posterior cranial fossa morphology
HP:0001181	Adducted thumb
HP:0001250	Seizure