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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 **1 - 10** of 35 in total

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DO ID	Disease Name	Source
DOID:0050562	West syndrome	DisGeNET
DOID:0050570	congenital disorder of glycosylation type I	DisGeNET Alliance of Genome Resources
DOID:0050589	inflammatory bowel disease	DisGeNET
DOID:0050841	focal hand dystonia	DisGeNET
DOID:0060192	Crohn's colitis	DisGeNET
DOID:0060823	syndromic X-linked intellectual disability 94	DisGeNET
DOID:0080470	developmental and epileptic encephalopathy 36	DisGeNET
DOID:0080566	congenital disorder of glycosylation In	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0110892	inflammatory bowel disease 1	DisGeNET
DOID:10003	sensorineural hearing loss	DisGeNET DisGeNET

The Human Phenotype Ontology

Displaying entries **21 - 30** of 37 in total

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HPO ID	HPO Term
HP:0002059	Cerebral atrophy
HP:0002093	Respiratory insufficiency
HP:0002120	Cerebral cortical atrophy
HP:0002240	Hepatomegaly
HP:0002401	Stroke-like episode
HP:0002783	Recurrent lower respiratory tract infections
HP:0002804	Arthrogryposis multiplex congenita
HP:0003186	Inverted nipples
HP:0003256	Abnormality of the coagulation cascade
HP:0003593	Infantile onset

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 **11 - 20** of 96 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Poecilia reticulata	103465248		POERE27521
Oryzias latipes	101154940		ORYLA13730
Oreochromis niloticus	100697767		ORENI58504
Haplochromis burtoni	102306259		HAPBU26188
Astatotilapia calliptera	113022531		ASTCA32652
Sparus aurata	115583340		SPAAU40722
Xenopus laevis	108714567	Xenbase:XB-GENE-17337914
Xenopus tropicalis	780289	Xenbase:XB-GENE-1015143
Chrysemys picta bellii	101950836		CHRPI19557
Crocodylus porosus	109318285		CROPO25311

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Last updated: August 19, 2024