Homo sapiens Protein: SLC35A3 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-590470.3 | ||||||||||||||||||
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 | ENSP00000433849 | ||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF00892
PF03151 PF04142 PF08449 |
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PRINTS | |||||||||||||||||||
PIRSF |
PIRSF005799
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SMART | |||||||||||||||||||
TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q9Y2D2 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q9Y2D2 | ||||||||||||||||||
TrEMBL | E9PPQ9 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 23443 | ||||||||||||||||||
UniGene | Hs.617357 | ||||||||||||||||||
RefSeq | XP_005270750 | ||||||||||||||||||
HUGO | HGNC:11023 | ||||||||||||||||||
OMIM | 605632 | ||||||||||||||||||
CCDS | CCDS762 | ||||||||||||||||||
HPRD | 10413 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB021981 AC118553 AK290573 BC005136 CH471097 CR749816 | ||||||||||||||||||
GenPept | AAH05136 BAA77841 BAF83262 CAH18676 EAW72977 EAW72978 EAW72979 | ||||||||||||||||||