InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC35A1

Summary

InnateDB Protein

IDBP-94138.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC35A1

Protein Name

solute carrier family 35 (CMP-sialic acid transporter), member A1

Synonyms

CDG2F; CMPST; CST; hCST;

Species

Homo sapiens

Ensembl Protein

ENSP00000358569

InnateDB Gene

IDBG-94128 (SLC35A1)

Protein Structure

UniProt Annotation

Function

Transports CMP-sialic acid from the cytosol into Golgi vesicles where glycosyltransferases function.

Subcellular Localization

Golgi apparatus membrane; Multi-pass membrane protein.

Disease Associations

Congenital disorder of glycosylation 2F (CDG2F) [MIM:603585]: 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. {ECO:0000269PubMed:15576474}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	1 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005338	nucleotide-sugar transmembrane transporter activity
GO:0005351	sugar:proton symporter activity
GO:0005456	CMP-N-acetylneuraminate transmembrane transporter activity

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006464	cellular protein modification process
GO:0008643	carbohydrate transport
GO:0015780	nucleotide-sugar transport
GO:0015782	CMP-N-acetylneuraminate transport
GO:0015992	proton transport
GO:0055085	transmembrane transport
GO:1901679	nucleotide transmembrane transport