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RFT1 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

Annotation

Keyword

Congenital disorder of glycosylation
Disease variant
Endoplasmic reticulum
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 **all 3** entries
GO Term	Evidence Code	PMID
protein N-linked glycosylation	IMP	18313027
glycolipid translocation	IBA IGI	18313027
dolichol-linked oligosaccharide biosynthetic process	IMP	18313027

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

biosynthetic process [inference]

organic substance biosynthetic process [inference]

carbohydrate derivative biosynthetic process [inference]

oligosaccharide-lipid intermediate biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

cellular metabolic process [inference]

cellular lipid metabolic process [inference]

oligosaccharide-lipid intermediate biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

isoprenoid metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

cellular lipid metabolic process [inference]

oligosaccharide-lipid intermediate biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

isoprenoid metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

small molecule metabolic process [inference]

alcohol metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein N-linked glycosylation

organic substance metabolic process [inference]

lipid metabolic process [inference]

cellular lipid metabolic process [inference]

oligosaccharide-lipid intermediate biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

isoprenoid metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein N-linked glycosylation

carbohydrate derivative metabolic process [inference]

carbohydrate derivative biosynthetic process [inference]

oligosaccharide-lipid intermediate biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

organic substance biosynthetic process [inference]

carbohydrate derivative biosynthetic process [inference]

oligosaccharide-lipid intermediate biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

organic hydroxy compound metabolic process [inference]

alcohol metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

cellular lipid metabolic process [inference]

oligosaccharide-lipid intermediate biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

isoprenoid metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

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]

organic substance 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 1 entry
GO Term	Evidence Code	PMID
endoplasmic reticulum membrane	IBA IGI TAS	18313027

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

Displaying **all 2** entries
GO Term	Evidence Code	PMID
glycolipid floppase activity
protein binding	IPI	32296183

GO Hierarchy

molecular function

transporter activity [inference]

lipid transporter activity [inference]

intramembrane lipid transporter activity [inference]

ATPase-coupled intramembrane lipid transporter activity [inference]

floppase activity [inference]

glycolipid floppase activity

binding [inference]

protein binding

ATP-dependent activity [inference]

ATPase-coupled intramembrane lipid transporter activity [inference]

floppase activity [inference]

glycolipid floppase activity

Gene Ontology information from NCBI Gene and UniProt.

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 entries **31 - 35** of 35 in total

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DO ID	Disease Name	Source
DOID:9306	mechanical strabismus	DisGeNET
DOID:9351	diabetes mellitus	DisGeNET
DOID:9352	type 2 diabetes mellitus	DisGeNET
DOID:9521	Laron syndrome	DisGeNET
DOID:9837	hypertropia	DisGeNET

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

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:612015	RFT1-congenital disorder of glycosylation
ORPHA:244310	RFT1-congenital disorder of glycosylation

PubChem Disease

MedGen Diseases

RFT1-congenital disorder of glycosylation

OMIM Phenotypes

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N

KEGG Diseases

Congenital disorders of glycosylation type I

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **1 - 10** of 96 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	177216	WB:WBGene00022677
Drosophila melanogaster	31489	FB:FBgn0027564
Callorhinchus milii	103189499		CALMI41626
Callorhinchus milii	103189500		CALMI41626
Danio rerio	559873	ZFIN:ZDB-GENE-110411-126	DANRE38171
Ictalurus punctatus	108272081		ICTPU02554
Electrophorus electricus	113575972		ELEEL17810
Esox lucius	105017196		ESOLU49128
Salmo trutta	115150556		SALTR31663
Gadus morhua	115556572		GADMO10322

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Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024