InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC35A3

Summary

InnateDB Protein

IDBP-100472.6

Last Modified

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

Gene Symbol

SLC35A3

Protein Name

solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3

Synonyms

AMRS;

Species

Homo sapiens

Ensembl Protein

ENSP00000359174

InnateDB Gene

IDBG-100468 (SLC35A3)

Protein Structure

UniProt Annotation

Function

Uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc) transporter in the Golgi apparatus. May supply UDP-GlcNAc as substrate for Golgi-resident glycosyltransferases that generate branching of diantennary oligosaccharides. {ECO:0000269PubMed:10393322}.

Subcellular Localization

Golgi apparatus membrane {ECO:0000269PubMed:10393322}; Multi-pass membrane protein {ECO:0000269PubMed:10393322}.

Disease Associations

Arthrogryposis, mental retardation, and seizures (AMRS) [MIM:615553]: A disease characterized by arthrogryposis, mental retardation, autism spectrum disorder, and epilepsy. Additional features include limb malformations, distal joint involvement, microcephaly, retromicrognathia, and general muscle hypotonia. {ECO:0000269PubMed:24031089}. Note=The disease is caused by mutations affecting the gene represented in this entry. In Golgi vesicles isolated from patient fibroblasts the transport of the respective nucleotide sugar is significantly reduced causing a massive decrease in the content of cell surface expressed highly branched N-glycans and a concomitant sharp increase of lower branched glycoforms.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	4 [view]
Protein-DNA	2 [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:0005462	UDP-N-acetylglucosamine transmembrane transporter activity
GO:0005515	protein binding

Biological Process

GO:0006047	UDP-N-acetylglucosamine metabolic process
GO:0008643	carbohydrate transport
GO:0015780	nucleotide-sugar transport
GO:0015788	UDP-N-acetylglucosamine transport
GO:0015992	proton transport
GO:0055085	transmembrane transport
GO:1901679	nucleotide transmembrane transport

Cellular Component

GO:0000139	Golgi membrane
GO:0005794	Golgi apparatus
GO:0016020	membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000620 Drug/metabolite transporter
IPR004689 UDP-galactose transporter
IPR004853 Triose-phosphate transporter domain
IPR007271 Nucleotide-sugar transporter
IPR013657 UAA transporter
IPR021189 UDP/CMP-sugar transporter

PFAM

PF00892
PF03151
PF04142
PF08449

PRINTS

PIRSF

PIRSF005799

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9Y2D2