Human RFT1 homolog (S. cerevisiae) ELISA Kit | RFT1 elisa kit

Human Protein RFT1 homolog, RFT1 ELISA Kit

Cat. Num. AAA9320382

• Gene Names: RFT1; CDG1N
• Reactivity: Human
• Synonyms: RFT1 homolog (S. cerevisiae); Human Protein RFT1 homolog; RFT1 ELISA Kit; Human Protein RFT1 homolog (RFT1) ELISA kit; CDG1N; DKFZp667J092; FLJ25945; RFT1 homolog; RFT1; requiring fifty three 1 homolog; putative endoplasmic reticulum multispan transmembrane protein; RFT1 elisa kit

• Reactivity: Human

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 16418361
• NCBI GeneID: 91869
• NCBI Accession #: NP_443091.1
• NCBI GenBank Nucleotide #: NM_052859.3
• UniProt Accession #: Q96AA3; Q96J03
• Molecular Weight: 60,335 Da
• NCBI Official Full Name: protein RFT1 homolog
• NCBI Official Synonym Full Names: RFT1 homolog (S. cerevisiae)
• NCBI Official Symbol: RFT1
• NCBI Official Synonym Symbols: CDG1N
• NCBI Protein Information: protein RFT1 homolog; RFT1, requiring fifty three 1 homolog; congenital disorder of glycosylation 1N; putative endoplasmic reticulum multispan transmembrane protein
• UniProt Protein Name: Protein RFT1 homolog
• Protein Family: Protein
• UniProt Gene Name: RFT1
• UniProt Entry Name: RFT1_HUMAN

NCBI Description

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]

Uniprot Description

RFT1: May be involved in N-linked oligosaccharide assembly. May participate in the translocation of oligosaccharide from the cytoplasmic side to the lumenal side of the endoplasmic reticulum membrane. Defects in RFT1 are the cause of congenital disorder of glycosylation type 1N (CDG1N). CDGs are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. CDGs present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. Type 1 CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin. Belongs to the RFT1 family.

Protein type: Membrane protein, integral; Transporter; Glycan Metabolism - N-glycan biosynthesis; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 3p21.1

Cellular Component: endoplasmic reticulum membrane; integral to membrane

Molecular Function: lipid transporter activity

Biological Process: cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; carbohydrate transport; protein amino acid N-linked glycosylation via asparagine; post-translational protein modification; glycolipid translocation

Disease: Congenital Disorder Of Glycosylation, Type In