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RFT1 - RFT1 homolog Gene

Also Known as CDG1N

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 91869

About RFT1

Cytogenetic location: 3p21.1 Genomic coordinates (GRCh38): 3:53,066,853-53,130,435 (from NCBI)

This gene has 4 transcripts (splice variants), 206 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 1.9), testis (RPKM 1.9) and 25 other tissues.

Summary

This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.[provided by RefSeq, Dec 2008]

RFT1 Products (1)

mRNA	Protein	Name
NM_052859.4	NP_443091.1	protein RFT1 homolog

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in dolichol-linked oligosaccharide biosynthetic process	IMP IMP: Inferred from mutant phenotype	18313027	GOA
involved in glycolipid translocation	IGI IGI: Inferred from genetic interaction	18313027	GOA
involved in protein N-linked glycosylation	IMP IMP: Inferred from mutant phenotype	18313027	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in endoplasmic reticulum membrane	IGI IGI: Inferred from genetic interaction	18313027	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RFT1 Protein Structure

Rft-1

0
100
200
300
400
500
541 a.a.

Protein Preferred Names	Protein Names
protein RFT1 homolog	RFT1, requiring fifty three 1 homolog

RFT1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RFT1	Q96AA3	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Intra	RFT1	Q96AA3	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	RFT1	Q96AA3	MUC1	Homo sapiens	P15941-11	Y2H Array	32296183
Intra	RFT1	Q96AA3	MUC1	Homo sapiens	P15941-11	Y2H Prey Pooling	32296183
Intra	RFT1	Q96AA3	BEST2	Homo sapiens	Q8NFU1	Y2H Array	32296183
Intra	RFT1	Q96AA3	BEST2	Homo sapiens	Q8NFU1	Y2H Prey Pooling	32296183
Intra	RFT1	Q96AA3	RNF144A	Homo sapiens	P50876	Y2H Prey Pooling	32296183
Intra	RFT1	Q96AA3	TSPAN12	Homo sapiens	O95859	Y2H Prey Pooling	32296183
Intra	RFT1	Q96AA3	TSPAN12	Homo sapiens	O95859	Y2H Array	32296183
Intra	RFT1	Q96AA3	CNR2	Homo sapiens	P34972	Y2H Prey Pooling	32296183
Intra	RFT1	Q96AA3	CNR2	Homo sapiens	P34972	Y2H Array	32296183
Intra	RFT1	Q96AA3	TMX2	Homo sapiens	Q9Y320	Y2H Prey Pooling	32296183
Intra	RFT1	Q96AA3	TMX2	Homo sapiens	Q9Y320	Y2H Array	32296183
Intra	RFT1	Q96AA3	TMX2	Homo sapiens	Q9Y320	Validated Y2H	32296183
Intra	RFT1	Q96AA3	CREB3L1	Homo sapiens	Q96BA8	Y2H Array	32296183
Intra	RFT1	Q96AA3	CREB3L1	Homo sapiens	Q96BA8	Validated Y2H	32296183
Intra	RFT1	Q96AA3	CREB3L1	Homo sapiens	Q96BA8	Y2H Prey Pooling	32296183
Intra	RFT1	Q96AA3	ERGIC3	Homo sapiens	Q9Y282	Y2H Prey Pooling	32296183
Intra	RFT1	Q96AA3	ERGIC3	Homo sapiens	Q9Y282	Validated Y2H	32296183
Intra	RFT1	Q96AA3	ERGIC3	Homo sapiens	Q9Y282	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13047	SLC19A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W010076	Methyl 2,4-dihydroxybenzoate	Inhibitor	99.57%	Unkown
HY-RS11876	RFT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13277	SLC52A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21258	Slc52a2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	RFT1	RGD	RGD:1562654
Mus musculus	RFT1	MGD	MGI:3607791
Felis catus	RFT1	VGNC	VGNC:102684
Canis familiaris	RFT1	VGNC	VGNC:108254