SLC35A1 Gene Summary [Human]

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]

Details

Type
Processed Transcript
Official Symbol
SLC35A1
Official Name
solute carrier family 35 member A1 [Source:HGNC Symbol;Acc:HGNC:11021]
Ensembl ID
ENSG00000164414
Bio databases IDs NCBI: 10559 Ensembl: ENSG00000164414
Aliases solute carrier family 35 member A1
Synonyms CDG2F, CMP-SA-Tr, CMP-Sia-Tr, CMPST, CST, hCST, Slc35a1 predicted, solute carrier family 35 (CMP-sialic acid transporter), member 1, solute carrier family 35 member A1
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SLC35A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • nucleotide-sugar transporter
  • EamA-like transporter family
  • antiporter
  • protein binding
  • CMP-sialic acid transporter
  • transporter

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • severe acute respiratory syndrome
  • congenital disorder of glycosylation type 2f
  • progressive familial intrahepatic cholestasis type 1
  • infection by Enterovirus D68
regulated by
regulates
  • UMP
  • UDP-D-galactose
  • CMP-sialic acid
  • AMP
  • UDP-N-acetyl-D-galactosamine
  • carbohydrate
  • cytidine 3'-phosphate
  • N-acetylneuraminic acid
role in cell
  • production in
  • viral entry in
  • sialylation in
  • JQ1-sensitivity

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cellular membrane
  • Plasma Membrane
  • Golgi Apparatus
  • Golgi membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SLC35A1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • protein modification process
  • carbohydrate metabolic process
  • CMP-N-acetylneuraminate transport

Cellular Component

Where in the cell the gene product is active
  • membrane
  • Golgi membrane
  • Golgi apparatus
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • antiporter activity
  • CMP-N-acetylneuraminate transmembrane transporter activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.