Homo sapiens Gene: ST3GAL3 | |||||||||||||||||||||
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Summary | |||||||||||||||||||||
InnateDB Gene | IDBG-97520.6 | ||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||
Gene Symbol | ST3GAL3 | ||||||||||||||||||||
Gene Name | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | ||||||||||||||||||||
Synonyms | EIEE15; MRT12; SIAT6; ST3GALII; ST3GalIII; ST3N | ||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||
Ensembl Gene | ENSG00000126091 | ||||||||||||||||||||
Encoded Proteins |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
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Protein Structure | |||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||
Summary |
The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with autosomal recessive nonsymdromic mental retardation-12 (MRT12). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] |
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Gene Information | |||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||
Genomic Location | Chromosome 1:43705824-43931165 | ||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||
Band | p34.1 | ||||||||||||||||||||
Transcripts | |||||||||||||||||||||
Interactions | |||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 4 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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Orthologs | |||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||
NETPATH | |||||||||||||||||||||
REACTOME |
Pre-NOTCH Processing in Golgi pathway
Termination of O-glycan biosynthesis pathway
O-linked glycosylation of mucins pathway
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein pathway
Asparagine N-linked glycosylation pathway
Keratan sulfate biosynthesis pathway
Mucopolysaccharidoses pathway
Post-translational protein modification pathway
Pre-NOTCH Expression and Processing pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
Keratan sulfate/keratin metabolism pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Synthesis of substrates in N-glycan biosythesis pathway
Defective SLC26A2 causes chondrodysplasias pathway
Signal Transduction pathway
O-linked glycosylation pathway
Sialic acid metabolism pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Metabolism of proteins pathway
Defective CHST14 causes EDS, musculocontractural type pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Signaling by NOTCH pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
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KEGG |
Glycosphingolipid biosynthesis pathway
Glycosaminoglycan biosynthesis pathway
Other types of O-glycan biosynthesis pathway
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INOH | |||||||||||||||||||||
PID NCI | |||||||||||||||||||||
Cross-References | |||||||||||||||||||||
SwissProt | |||||||||||||||||||||
TrEMBL | |||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||
UniGene | Hs.576181 Hs.597915 | ||||||||||||||||||||
RefSeq | NM_001270459 NM_001270460 NM_001270461 NM_001270462 NM_001270463 NM_001270464 NM_001270465 NM_001270466 NM_006279 NM_174963 NM_174964 NM_174965 NM_174966 NM_174967 NM_174968 NM_174969 NM_174970 NM_174971 | ||||||||||||||||||||
HUGO | |||||||||||||||||||||
OMIM | |||||||||||||||||||||
CCDS | CCDS492 CCDS493 CCDS494 CCDS495 CCDS496 CCDS497 CCDS498 CCDS499 CCDS500 CCDS53310 CCDS57988 CCDS57989 CCDS57990 CCDS57991 CCDS57992 CCDS57993 CCDS57994 | ||||||||||||||||||||
HPRD | 05930 | ||||||||||||||||||||
IMGT | |||||||||||||||||||||
EMBL | |||||||||||||||||||||
GenPept | |||||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||||