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ST8SIA1 (ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1)

Identity

Alias_namesSIAT8
SIAT8A
sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A
ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 1
Other aliasGD3S
SIAT8-A
ST8SiaI
HGNC (Hugo) ST8SIA1
LocusID (NCBI) 6489
Atlas_Id 45520
Location 12p12.1  [Link to chromosome band 12p12]
Location_base_pair Starts at 22193391 and ends at 22334714 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CARMN (5q32) / ST8SIA1 (12p12.1)MRPL11 (11q13.2) / ST8SIA1 (12p12.1)RAD51AP1 (12p13.32) / ST8SIA1 (12p12.1)
ST8SIA1 (12p12.1) / LMNTD1 (12p12.1)ST8SIA1 (12p12.1) / ST8SIA1 (12p12.1)MRPL11 11q13.2 / ST8SIA1 12p12.1
RAD51AP1 12p13.32 / ST8SIA1 12p12.1ST8SIA1 12p12.1 IFLTD1

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

 


External links

Nomenclature
HGNC (Hugo)ST8SIA1   10869
Cards
Entrez_Gene (NCBI)ST8SIA1  6489  ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1
AliasesGD3S; SIAT8; SIAT8-A; SIAT8A; 
ST8SiaI
GeneCards (Weizmann)ST8SIA1
Ensembl hg19 (Hinxton)ENSG00000111728 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111728 [Gene_View]  chr12:22193391-22334714 [Contig_View]  ST8SIA1 [Vega]
ICGC DataPortalENSG00000111728
TCGA cBioPortalST8SIA1
AceView (NCBI)ST8SIA1
Genatlas (Paris)ST8SIA1
WikiGenes6489
SOURCE (Princeton)ST8SIA1
Genetics Home Reference (NIH)ST8SIA1
Genomic and cartography
GoldenPath hg38 (UCSC)ST8SIA1  -     chr12:22193391-22334714 -  12p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ST8SIA1  -     12p12.1   [Description]    (hg19-Feb_2009)
EnsemblST8SIA1 - 12p12.1 [CytoView hg19]  ST8SIA1 - 12p12.1 [CytoView hg38]
Mapping of homologs : NCBIST8SIA1 [Mapview hg19]  ST8SIA1 [Mapview hg38]
OMIM601123   
Gene and transcription
Genbank (Entrez)AF088002 AK290941 AK297310 AK315340 AY569975
RefSeq transcript (Entrez)NM_001304450 NM_003034
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ST8SIA1
Cluster EST : UnigeneHs.408614 [ NCBI ]
CGAP (NCI)Hs.408614
Alternative Splicing GalleryENSG00000111728
Gene ExpressionST8SIA1 [ NCBI-GEO ]   ST8SIA1 [ EBI - ARRAY_EXPRESS ]   ST8SIA1 [ SEEK ]   ST8SIA1 [ MEM ]
Gene Expression Viewer (FireBrowse)ST8SIA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6489
GTEX Portal (Tissue expression)ST8SIA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92185   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92185  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92185
Splice isoforms : SwissVarQ92185
Catalytic activity : Enzyme2.4.99.8 [ Enzyme-Expasy ]   2.4.99.82.4.99.8 [ IntEnz-EBI ]   2.4.99.8 [ BRENDA ]   2.4.99.8 [ KEGG ]   
PhosPhoSitePlusQ92185
Domains : Interpro (EBI)Glyco_trans_29    Sialyl_trans   
Domain families : Pfam (Sanger)Glyco_transf_29 (PF00777)   
Domain families : Pfam (NCBI)pfam00777   
Conserved Domain (NCBI)ST8SIA1
DMDM Disease mutations6489
Blocks (Seattle)ST8SIA1
SuperfamilyQ92185
Human Protein AtlasENSG00000111728
Peptide AtlasQ92185
HPRD03078
IPIIPI00020197   IPI00910933   IPI00452648   IPI01009136   IPI01014980   IPI01015351   IPI00797101   IPI00796309   
Protein Interaction databases
DIP (DOE-UCLA)Q92185
IntAct (EBI)Q92185
FunCoupENSG00000111728
BioGRIDST8SIA1
STRING (EMBL)ST8SIA1
ZODIACST8SIA1
Ontologies - Pathways
QuickGOQ92185
Ontology : AmiGOGolgi membrane  alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity  carbohydrate metabolic process  protein glycosylation  glycosphingolipid biosynthetic process  positive regulation of cell proliferation  sialyltransferase activity  integral component of membrane  integral component of Golgi membrane  cellular response to heat  sialylation  
Ontology : EGO-EBIGolgi membrane  alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity  carbohydrate metabolic process  protein glycosylation  glycosphingolipid biosynthetic process  positive regulation of cell proliferation  sialyltransferase activity  integral component of membrane  integral component of Golgi membrane  cellular response to heat  sialylation  
Pathways : KEGGGlycosphingolipid biosynthesis - lacto and neolacto series    Glycosphingolipid biosynthesis - globo series    Glycosphingolipid biosynthesis - ganglio series   
NDEx NetworkST8SIA1
Atlas of Cancer Signalling NetworkST8SIA1
Wikipedia pathwaysST8SIA1
Orthology - Evolution
OrthoDB6489
GeneTree (enSembl)ENSG00000111728
Phylogenetic Trees/Animal Genes : TreeFamST8SIA1
HOVERGENQ92185
HOGENOMQ92185
Homologs : HomoloGeneST8SIA1
Homology/Alignments : Family Browser (UCSC)ST8SIA1
Gene fusions - Rearrangements
Fusion : MitelmanMRPL11/ST8SIA1 [11q13.2/12p12.1]  [t(11;12)(q13;p12)]  
Fusion : MitelmanRAD51AP1/ST8SIA1 [12p13.32/12p12.1]  [t(12;12)(p12;p13)]  
Fusion : MitelmanST8SIA1/LMNTD1 [12p12.1/12p12.1]  [t(12;12)(p12;p12)]  
Fusion: TCGAMRPL11 11q13.2 ST8SIA1 12p12.1 BRCA
Fusion: TCGARAD51AP1 12p13.32 ST8SIA1 12p12.1 LGG
Fusion: TCGAST8SIA1 12p12.1 IFLTD1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerST8SIA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ST8SIA1
dbVarST8SIA1
ClinVarST8SIA1
1000_GenomesST8SIA1 
Exome Variant ServerST8SIA1
ExAC (Exome Aggregation Consortium)ST8SIA1 (select the gene name)
Genetic variants : HAPMAP6489
Genomic Variants (DGV)ST8SIA1 [DGVbeta]
DECIPHERST8SIA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisST8SIA1 
Mutations
ICGC Data PortalST8SIA1 
TCGA Data PortalST8SIA1 
Broad Tumor PortalST8SIA1
OASIS PortalST8SIA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICST8SIA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDST8SIA1
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 ST8SIA1
DgiDB (Drug Gene Interaction Database)ST8SIA1
DoCM (Curated mutations)ST8SIA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ST8SIA1 (select a term)
intoGenST8SIA1
Cancer3DST8SIA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601123   
Orphanet
MedgenST8SIA1
Genetic Testing Registry ST8SIA1
NextProtQ92185 [Medical]
TSGene6489
GENETestsST8SIA1
Target ValidationST8SIA1
Huge Navigator ST8SIA1 [HugePedia]
snp3D : Map Gene to Disease6489
BioCentury BCIQST8SIA1
ClinGenST8SIA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6489
Chemical/Pharm GKB GenePA35770
Clinical trialST8SIA1
Miscellaneous
canSAR (ICR)ST8SIA1 (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineST8SIA1
EVEXST8SIA1
GoPubMedST8SIA1
iHOPST8SIA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:57:46 CEST 2017

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