ENSG00000126091


Homo sapiens

Features
Gene ID: ENSG00000126091
  
Biological name :ST3GAL3
  
Synonyms : Q11203 / ST3 beta-galactoside alpha-2,3-sialyltransferase 3 / ST3GAL3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p34.1
Gene start: 43705824
Gene end: 43931165
  
Corresponding Affymetrix probe sets: 1555171_at (Human Genome U133 Plus 2.0 Array)   1555181_a_at (Human Genome U133 Plus 2.0 Array)   1555678_at (Human Genome U133 Plus 2.0 Array)   1555702_a_at (Human Genome U133 Plus 2.0 Array)   1555703_at (Human Genome U133 Plus 2.0 Array)   225905_s_at (Human Genome U133 Plus 2.0 Array)   231659_at (Human Genome U133 Plus 2.0 Array)   242511_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000437206
Ensembl peptide - ENSP00000262915
Ensembl peptide - ENSP00000316999
Ensembl peptide - ENSP00000317192
Ensembl peptide - ENSP00000329755
Ensembl peptide - ENSP00000330463
Ensembl peptide - ENSP00000333494
Ensembl peptide - ENSP00000335633
Ensembl peptide - ENSP00000354657
Ensembl peptide - ENSP00000354748
Ensembl peptide - ENSP00000355201
Ensembl peptide - ENSP00000355341
Ensembl peptide - ENSP00000361437
Ensembl peptide - ENSP00000361440
Ensembl peptide - ENSP00000361441
Ensembl peptide - ENSP00000361442
Ensembl peptide - ENSP00000361443
Ensembl peptide - ENSP00000361444
Ensembl peptide - ENSP00000361447
Ensembl peptide - ENSP00000361449
Ensembl peptide - ENSP00000431700
Ensembl peptide - ENSP00000431816
Ensembl peptide - ENSP00000432071
Ensembl peptide - ENSP00000432214
Ensembl peptide - ENSP00000432682
Ensembl peptide - ENSP00000432965
Ensembl peptide - ENSP00000433668
Ensembl peptide - ENSP00000434378
Ensembl peptide - ENSP00000434686
Ensembl peptide - ENSP00000434876
Ensembl peptide - ENSP00000435018
Ensembl peptide - ENSP00000435603
Ensembl peptide - ENSP00000435621
Ensembl peptide - ENSP00000436298
Ensembl peptide - ENSP00000437293
Ensembl peptide - ENSP00000439634
Ensembl peptide - ENSP00000493476
Ensembl peptide - ENSP00000493660
Ensembl peptide - ENSP00000493708
Ensembl peptide - ENSP00000493823
Ensembl peptide - ENSP00000494013
Ensembl peptide - ENSP00000494118
Ensembl peptide - ENSP00000494146
Ensembl peptide - ENSP00000494201
Ensembl peptide - ENSP00000494374
Ensembl peptide - ENSP00000494396
Ensembl peptide - ENSP00000494746
Ensembl peptide - ENSP00000494852
Ensembl peptide - ENSP00000494857
Ensembl peptide - ENSP00000495013
Ensembl peptide - ENSP00000495252
Ensembl peptide - ENSP00000495299
Ensembl peptide - ENSP00000495313
Ensembl peptide - ENSP00000495333
Ensembl peptide - ENSP00000495567
Ensembl peptide - ENSP00000495624
Ensembl peptide - ENSP00000495647
Ensembl peptide - ENSP00000495683
Ensembl peptide - ENSP00000495709
Ensembl peptide - ENSP00000495797
Ensembl peptide - ENSP00000495887
Ensembl peptide - ENSP00000495939
Ensembl peptide - ENSP00000495977
Ensembl peptide - ENSP00000496035
Ensembl peptide - ENSP00000496054
Ensembl peptide - ENSP00000496117
Ensembl peptide - ENSP00000496289
Ensembl peptide - ENSP00000496350
Ensembl peptide - ENSP00000496444
Ensembl peptide - ENSP00000496492
Ensembl peptide - ENSP00000496550
Ensembl peptide - ENSP00000496568
Ensembl peptide - ENSP00000496585
Ensembl peptide - ENSP00000496646
NCBI entrez gene - 6487     See in Manteia.
OMIM - 606494
RefSeq - XM_017002120
RefSeq - XM_017002121
RefSeq - XM_017002122
RefSeq - XM_017002118
RefSeq - XM_017002119
RefSeq - NM_174970
RefSeq - NM_174971
RefSeq - XM_006710825
RefSeq - XM_006710827
RefSeq - XM_006710828
RefSeq - XM_011541973
RefSeq - XM_011541974
RefSeq - XM_011541976
RefSeq - XM_011541977
RefSeq - XM_011541980
RefSeq - XM_011541981
RefSeq - XM_011541983
RefSeq - XM_011541984
RefSeq - XM_011541985
RefSeq - XM_011541986
RefSeq - XM_011541987
RefSeq - XM_011541988
RefSeq - XM_017002109
RefSeq - XM_017002110
RefSeq - XM_017002111
RefSeq - XM_017002112
RefSeq - XM_017002113
RefSeq - XM_017002114
RefSeq - XM_017002115
RefSeq - XM_017002116
RefSeq - XM_017002117
RefSeq - NM_001270459
RefSeq - NM_001270460
RefSeq - NM_001270461
RefSeq - NM_001270462
RefSeq - NM_001270463
RefSeq - NM_001270464
RefSeq - NM_001270465
RefSeq - NM_001270466
RefSeq - NM_001350619
RefSeq - NM_001350620
RefSeq - NM_001350621
RefSeq - NM_006279
RefSeq - NM_174963
RefSeq - NM_174964
RefSeq - NM_174965
RefSeq - NM_174966
RefSeq - NM_174967
RefSeq - NM_174968
RefSeq - NM_174969
RefSeq Peptide - NP_001257389
RefSeq Peptide - NP_777628
RefSeq Peptide - NP_777629
RefSeq Peptide - NP_777630
RefSeq Peptide - NP_777631
RefSeq Peptide - NP_001257388
RefSeq Peptide - NP_001257390
RefSeq Peptide - NP_001257391
RefSeq Peptide - NP_001257392
RefSeq Peptide - NP_001257393
RefSeq Peptide - NP_001257394
RefSeq Peptide - NP_001257395
RefSeq Peptide - NP_001337548
RefSeq Peptide - NP_001337549
RefSeq Peptide - NP_001337550
RefSeq Peptide - NP_006270
RefSeq Peptide - NP_777623
RefSeq Peptide - NP_777624
RefSeq Peptide - NP_777625
RefSeq Peptide - NP_777626
RefSeq Peptide - NP_777627
swissprot - E9PNN5
swissprot - H0YEP7
swissprot - E9PJI3
swissprot - Q11203
swissprot - E9PJX2
Ensembl - ENSG00000126091
  
Related genetic diseases (OMIM): 611090 - Mental retardation, autosomal recessive 12, 611090
  615006 - ?Epileptic encephalopathy, early infantile, 15, 615006
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 st3gal3aENSDARG00000015374Danio rerio
 st3gal3bENSDARG00000015252Danio rerio
 ST3GAL3ENSGALG00000010083Gallus gallus
 P97325ENSMUSG00000028538Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q11206 / ST3GAL4 / ST3 beta-galactoside alpha-2,3-sialyltransferase 4ENSG0000011008029
Q9UNP4 / ST3GAL5 / ST3 beta-galactoside alpha-2,3-sialyltransferase 5ENSG0000011552529
Q9Y274 / ST3GAL6 / ST3 beta-galactoside alpha-2,3-sialyltransferase 6ENSG0000006422525
Q9NSC7 / ST6GALNAC1 / ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1ENSG0000007052620
Q9UJ37 / ST6GALNAC2 / ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2ENSG0000007073119
Q11201 / ST3GAL1 / ST3 beta-galactoside alpha-2,3-sialyltransferase 1ENSG0000000851317
Q16842 / ST3GAL2 / ST3 beta-galactoside alpha-2,3-sialyltransferase 2ENSG0000015735017


Protein motifs (from Interpro)
Interpro ID Name
 IPR001675  Glycosyl transferase family 29
 IPR012163  Sialyltransferase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006486 protein glycosylation IEA
 biological_processGO:0009311 oligosaccharide metabolic process IBA
 biological_processGO:0016266 O-glycan processing TAS
 biological_processGO:0018146 keratan sulfate biosynthetic process TAS
 biological_processGO:0018279 protein N-linked glycosylation via asparagine IBA
 biological_processGO:0097503 sialylation IEA
 cellular_componentGO:0000139 Golgi membrane IBA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0032580 Golgi cisterna membrane IEA
 molecular_functionGO:0003836 beta-galactoside (CMP) alpha-2,3-sialyltransferase activity TAS
 molecular_functionGO:0008118 N-acetyllactosaminide alpha-2,3-sialyltransferase activity TAS
 molecular_functionGO:0008373 sialyltransferase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA


Pathways (from Reactome)
Pathway description
Pre-NOTCH Processing in Golgi
Keratan sulfate biosynthesis
Defective ST3GAL3 causes MCT12 and EIEE15
Sialic acid metabolism
Termination of O-glycan biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001336 Myoclonus "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators]
Show

 HP:0002376 Developmental regression 
Show

 HP:0002521 Hypsarrhythmia "Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes demonstrated by electroencephalography (EEG)." [HPO:curators]
Show

 HP:0011121 Abnormality of skin morphology "Any morphological abnormality of the `skin` (FMA:7163)." [HPO:probinson]
Show

 HP:0012469 Infantile spasms "Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy)." [HPO:ihelbig]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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