RFT1 - RFT1 homolog Gene

Homo sapiens

Also known as CDG1N

Gene ID: 91869 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11876	RFT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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