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ST3GAL3 (ST3 beta-galactoside alpha-2,3-sialyltransferase 3)

Identity

Alias_namesSIAT6
MRT12
sialyltransferase 6 (N-acetyllactosaminide alpha 2,3-sialyltransferase)
mental retardation, non-syndromic, autosomal recessive, 12
Other aliasEIEE15
ST3GALII
ST3Gal III
ST3GalIII
ST3N
HGNC (Hugo) ST3GAL3
LocusID (NCBI) 6487
Atlas_Id 46012
Location 1p34.1  [Link to chromosome band 1p34]
Location_base_pair Starts at 43707497 and ends at 43931165 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
KAZN (1p36.21) / ST3GAL3 (1p34.1)ST3GAL3 (1p34.1) / SSBP3 (1p32.3)ST3GAL3 (1p34.1) / TAL1 (1p33)
ST3GAL3 (1p34.1) / TMC8 (17q25.3)KAZN 1p36.21 / ST3GAL3 1p34.1ST3GAL3 1p34.1 / TAL1 1p33

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(1;1)(p33;p34) ST3GAL3/TAL1
t(1;1)(p34;p36) KAZN/ST3GAL3


External links

Nomenclature
HGNC (Hugo)ST3GAL3   10866
Cards
Entrez_Gene (NCBI)ST3GAL3  6487  ST3 beta-galactoside alpha-2,3-sialyltransferase 3
AliasesEIEE15; MRT12; SIAT6; ST3GALII; 
ST3Gal; ST3GalIII; ST3N
GeneCards (Weizmann)ST3GAL3
Ensembl hg19 (Hinxton)ENSG00000126091 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000126091 [Gene_View]  ENSG00000126091 [Sequence]  chr1:43707497-43931165 [Contig_View]  ST3GAL3 [Vega]
ICGC DataPortalENSG00000126091
TCGA cBioPortalST3GAL3
AceView (NCBI)ST3GAL3
Genatlas (Paris)ST3GAL3
WikiGenes6487
SOURCE (Princeton)ST3GAL3
Genetics Home Reference (NIH)ST3GAL3
Genomic and cartography
GoldenPath hg38 (UCSC)ST3GAL3  -     chr1:43707497-43931165 +  1p34.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ST3GAL3  -     1p34.1   [Description]    (hg19-Feb_2009)
GoldenPathST3GAL3 - 1p34.1 [CytoView hg19]  ST3GAL3 - 1p34.1 [CytoView hg38]
ImmunoBaseENSG00000126091
Mapping of homologs : NCBIST3GAL3 [Mapview hg19]  ST3GAL3 [Mapview hg38]
OMIM606494   611090   615006   
Gene and transcription
Genbank (Entrez)AA478788 AF425851 AF425852 AF425853 AF425854
RefSeq transcript (Entrez)NM_001270459 NM_001270460 NM_001270461 NM_001270462 NM_001270463 NM_001270464 NM_001270465 NM_001270466 NM_001350619 NM_001350620 NM_001350621 NM_001363573 NM_006279 NM_174963 NM_174964 NM_174965 NM_174966 NM_174967 NM_174968 NM_174969 NM_174970 NM_174971 NM_174972
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ST3GAL3
Cluster EST : UnigeneHs.742205 [ NCBI ]
CGAP (NCI)Hs.742205
Alternative Splicing GalleryENSG00000126091
Gene ExpressionST3GAL3 [ NCBI-GEO ]   ST3GAL3 [ EBI - ARRAY_EXPRESS ]   ST3GAL3 [ SEEK ]   ST3GAL3 [ MEM ]
Gene Expression Viewer (FireBrowse)ST3GAL3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6487
GTEX Portal (Tissue expression)ST3GAL3
Human Protein AtlasENSG00000126091-ST3GAL3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ11203   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ11203  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ11203
Splice isoforms : SwissVarQ11203
Catalytic activity : Enzyme2.4.99.6 [ Enzyme-Expasy ]   2.4.99.62.4.99.6 [ IntEnz-EBI ]   2.4.99.6 [ BRENDA ]   2.4.99.6 [ KEGG ]   
PhosPhoSitePlusQ11203
Domains : Interpro (EBI)Glyco_trans_29    GT29-like_sf    Sialyl_trans   
Domain families : Pfam (Sanger)Glyco_transf_29 (PF00777)   
Domain families : Pfam (NCBI)pfam00777   
Conserved Domain (NCBI)ST3GAL3
DMDM Disease mutations6487
Blocks (Seattle)ST3GAL3
SuperfamilyQ11203
Human Protein Atlas [tissue]ENSG00000126091-ST3GAL3 [tissue]
Peptide AtlasQ11203
HPRD05930
IPIIPI00009630   IPI00413068   IPI00217392   IPI00217400   IPI00329676   IPI00413072   IPI00185248   IPI00413074   IPI00413075   IPI00217399   IPI00238891   IPI00185243   IPI00413078   IPI00413079   IPI00384239   IPI00413081   IPI00384243   IPI00383492   IPI00217388   IPI00217406   IPI00293210   IPI00383494   IPI00185251   IPI00181505   IPI00185245   IPI00383493   IPI00909839   IPI00978674   IPI00979306   IPI00983376   IPI00978231   
Protein Interaction databases
DIP (DOE-UCLA)Q11203
IntAct (EBI)Q11203
FunCoupENSG00000126091
BioGRIDST3GAL3
STRING (EMBL)ST3GAL3
ZODIACST3GAL3
Ontologies - Pathways
QuickGOQ11203
Ontology : AmiGOGolgi membrane  extracellular region  protein glycosylation  N-acetyllactosaminide alpha-2,3-sialyltransferase activity  sialyltransferase activity  integral component of membrane  O-glycan processing  keratan sulfate biosynthetic process  Golgi cisterna membrane  sialylation  
Ontology : EGO-EBIGolgi membrane  extracellular region  protein glycosylation  N-acetyllactosaminide alpha-2,3-sialyltransferase activity  sialyltransferase activity  integral component of membrane  O-glycan processing  keratan sulfate biosynthetic process  Golgi cisterna membrane  sialylation  
Pathways : KEGGOther types of O-glycan biosynthesis    Glycosaminoglycan biosynthesis - keratan sulfate    Glycosphingolipid biosynthesis - lacto and neolacto series   
NDEx NetworkST3GAL3
Atlas of Cancer Signalling NetworkST3GAL3
Wikipedia pathwaysST3GAL3
Orthology - Evolution
OrthoDB6487
GeneTree (enSembl)ENSG00000126091
Phylogenetic Trees/Animal Genes : TreeFamST3GAL3
HOGENOMQ11203
Homologs : HomoloGeneST3GAL3
Homology/Alignments : Family Browser (UCSC)ST3GAL3
Gene fusions - Rearrangements
Fusion : MitelmanKAZN/ST3GAL3 [1p36.21/1p34.1]  [t(1;1)(p34;p36)]  
Fusion : MitelmanST3GAL3/TAL1 [1p34.1/1p33]  [t(1;1)(p33;p34)]  
Fusion PortalKAZN 1p36.21 ST3GAL3 1p34.1 BRCA
Fusion PortalST3GAL3 1p34.1 TAL1 1p33 BRCA
Fusion : QuiverST3GAL3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerST3GAL3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ST3GAL3
dbVarST3GAL3
ClinVarST3GAL3
1000_GenomesST3GAL3 
Exome Variant ServerST3GAL3
ExAC (Exome Aggregation Consortium)ENSG00000126091
GNOMAD BrowserENSG00000126091
Varsome BrowserST3GAL3
Genetic variants : HAPMAP6487
Genomic Variants (DGV)ST3GAL3 [DGVbeta]
DECIPHERST3GAL3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisST3GAL3 
Mutations
ICGC Data PortalST3GAL3 
TCGA Data PortalST3GAL3 
Broad Tumor PortalST3GAL3
OASIS PortalST3GAL3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICST3GAL3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DST3GAL3
Mutations and Diseases : HGMDST3GAL3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ST3GAL3
DgiDB (Drug Gene Interaction Database)ST3GAL3
DoCM (Curated mutations)ST3GAL3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ST3GAL3 (select a term)
intoGenST3GAL3
Cancer3DST3GAL3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606494    611090    615006   
Orphanet894    11804   
DisGeNETST3GAL3
MedgenST3GAL3
Genetic Testing Registry ST3GAL3
NextProtQ11203 [Medical]
TSGene6487
GENETestsST3GAL3
Target ValidationST3GAL3
Huge Navigator ST3GAL3 [HugePedia]
snp3D : Map Gene to Disease6487
BioCentury BCIQST3GAL3
ClinGenST3GAL3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6487
Chemical/Pharm GKB GenePA35768
Clinical trialST3GAL3
Miscellaneous
canSAR (ICR)ST3GAL3 (select the gene name)
DataMed IndexST3GAL3
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineST3GAL3
EVEXST3GAL3
GoPubMedST3GAL3
iHOPST3GAL3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 18:09:54 CET 2019

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