catalog number :
MBS710230
products full name :
Rabbit anti-human solute carrier family 35 (CMP-sialic acid transporter), member A1 polyclonal Antibody
products short name :
solute carrier family 35 (CMP-sialic acid transporter), member A1
products name syn :
solute carrier family 35 (CMP-sialic acid transporter); member A1; SLC35A1; CMPST; CST; hCST; inactive
other names :
Solute carrier family 35 (CMP-sialic acid transporter), member A1; CMP-sialic acid transporter; CMP-sialic acid transporter; CMP-SA-Tr; CMP-Sia-Tr; solute carrier family 35 member A1; mutated CMP-sialic acid transporter A1; solute carrier family 35 (UDP-galactose transporter), member 1; solute carrier family 35 (CMP-sialic acid transporter), member 1; solute carrier family 35 (CMP-sialic acid transporter), member A1; Solute carrier family 35 member A1
other gene names :
SLC35A1; SLC35A1; CST; hCST; CDG2F; CMPST; CMP-SA-Tr; CMP-Sia-Tr
uniprot entry name :
S35A1_HUMAN
reactivity :
Human, Mouse, Rat
purity :
Antigen Affinity Purified
tested application :
ELISA (EIA), Immunohistochemistry (IHC)
other info1 :
Immunogen: Human SLC35A1
other info2 :
Storage Buffer: PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20 degree C, Avoid freeze / thaw cycles.
ncbi acc num :
AAH17807.1
ncbi mol weight :
29,919 Da
ncbi pathways :
Asparagine N-linked Glycosylation Pathway (161013); Biosynthesis Of The N-glycan Precursor (dolichol Lipid-linked Oligosaccharide, LLO) And Transfer To A Nascent Protein Pathway (161014); Metabolism Of Proteins Pathway (106230); Post-translational Protein Modification Pathway (161012); SLC-mediated Transmembrane Transport Pathway (119558); Sialic Acid Metabolism Pathway (980458); Synthesis Of Substrates In N-glycan Biosythesis Pathway (161015); Transmembrane Transport Of Small Molecules Pathway (106572); Transport Of Nucleotide Sugars Pathway (161076); Transport Of Vitamins, Nucleosides, And Related Molecules Pathway (161075)
ncbi summary :
The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]
uniprot summary :
SLC35A1: Transports CMP-sialic acid from the cytosol into Golgi vesicles where glycosyltransferases function. Defects in SLC35A1 are the cause of congenital disorder of glycosylation type 2F (CDG2F). CDGs are a family of severe inherited diseases caused by a defect in protein N- glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders 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. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Belongs to the nucleotide-sugar transporter family. SLC35A subfamily. 2 isoforms of the human protein are produced by alternative splicing. Protein type: Transporter; Membrane protein, integral; Transporter, SLC family; Membrane protein, multi-pass. Chromosomal Location of Human Ortholog: 6q15. Cellular Component: Golgi membrane; Golgi apparatus; integral to plasma membrane. Molecular Function: CMP-sialic acid transmembrane transporter activity; sugar:hydrogen ion symporter activity. Biological Process: proton transport; cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; carbohydrate transport; carbohydrate metabolic process; protein modification process; protein amino acid N-linked glycosylation via asparagine; CMP-sialic acid transport; post-translational protein modification; transmembrane transport. Disease: Congenital Disorder Of Glycosylation, Type Iif