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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ST3GAL5 Gene

protein-coding   GIFtS: 60
GCID: GC02M086066

ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 5

(Previous name: sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase;...)
(Previous symbol: SIAT9)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 51 2     SATI2
SIAT91 2 3 5     SIATGM3S2
Sialyltransferase 9 (CMP-NeuAc:Lactosylceramide
Alpha-2,3-Sialyltransferase; GM3 Synthase)1 2
     Alpha 2,3-Sialyltransferase V2
Ganglioside GM3 Synthase2 3     GM3 Synthase2
ST3GalV2 3     Lactosylceramide Alpha-2,3-Sialyltransferase2
CMP-NeuAc:Lactosylceramide Alpha-2,3-Sialyltransferase2 3     Sialyltransferase 93
ST3Gal V2 3     ST3GALV5
EC 2.4.99.93 8     

External Ids:    HGNC: 108721   Entrez Gene: 88692   Ensembl: ENSG000001155257   OMIM: 6044025   UniProtKB: Q9UNP43   

Export aliases for ST3GAL5 gene to outside databases

Previous GC identifers: GC02M085978 GC02M085919 GC02M085963


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ST3GAL5 Gene:
Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell
proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion.
The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using
lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be
localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy
syndrome. Transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul
2008)

GeneCards Summary for ST3GAL5 Gene: 
ST3GAL5 (ST3 beta-galactoside alpha-2,3-sialyltransferase 5) is a protein-coding gene. Diseases associated with ST3GAL5 include epilepsy syndrome, and amish infantile epilepsy syndrome, and among its related super-pathways are Glycosphingolipid biosynthesis - ganglio series and Metabolism. GO annotations related to this gene include sialyltransferase activity and lactosylceramide alpha-2,3-sialyltransferase activity. An important paralog of this gene is ST3GAL3.

UniProtKB/Swiss-Prot: SIAT9_HUMAN, Q9UNP4
Function: Catalyzes the formation of ganglioside GM3 (alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,
4-beta-D-glucosylceramide)

Gene Wiki entry for ST3GAL5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ST3GAL5 gene promoter:
         STAT1   STAT1beta   STAT1alpha   CREB   AREB6   MEF-2A   deltaCREB   aMEF-2   ATF   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidST3GAL5 promoter sequence
   Search SABiosciences Chromatin IP Primers for ST3GAL5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ST3GAL5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p11.2   Ensembl cytogenetic band:  2p11.2   HGNC cytogenetic band: 2p11.2

ST3GAL5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ST3GAL5 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M086066:  view genomic region     (about GC identifiers)

Start:
86,066,267 bp from pter      End:
86,116,157 bp from pter
Size:
49,891 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SIAT9_HUMAN, Q9UNP4 (See protein sequence)
Recommended Name: Lactosylceramide alpha-2,3-sialyltransferase  
Size: 418 amino acids; 47990 Da
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein (Potential)
Sequence caution: Sequence=AAD14634.1; Type=Erroneous initiation; Sequence=AAF66146.1; Type=Erroneous initiation;
Sequence=AAQ89463.1; Type=Erroneous initiation; Sequence=AAY24147.1; Type=Erroneous gene model prediction;
Sequence=BAA33950.1; Type=Erroneous initiation;
Secondary accessions: B3KM82 D6W5L9 O94902 Q53QU1 Q6NZX4 Q6YFL1
Alternative splicing: 3 isoforms:  Q9UNP4-1   Q9UNP4-2   Q9UNP4-3   

Explore the universe of human proteins at neXtProt for ST3GAL5: NX_Q9UNP4

Explore proteomics data for ST3GAL5 at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UNP4

  • 4/7 DME Specific Peptides for ST3GAL5 (Q9UNP4) (see all 7)
     DVVIRLN  MHNVTTET  VLFKSVDF  QPRTPLHYFD 

    ST3GAL5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ST3GAL5 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001035902.1  NP_003887.3  

    ENSEMBL proteins: 
     ENSP00000377397   ENSP00000377394   ENSP00000366549   ENSP00000306247   ENSP00000401375  
     ENSP00000408635   ENSP00000433607  

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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane NAS9822625
    GO:0005887integral to plasma membrane TAS9822625
    GO:0016021integral to membrane TAS10092602
    GO:0030173integral to Golgi membrane IEA--

    ST3GAL5 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ST3G: Sialyltransferases

    2 InterPro protein domains:
     IPR001675 Glyco_trans_29
     IPR012163 Sialyl_trans

    Graphical View of Domain Structure for InterPro Entry Q9UNP4

    ProtoNet protein and cluster: Q9UNP4

    1 Blocks protein domain: IPB001675 Glycosyl transferase

    UniProtKB/Swiss-Prot: SIAT9_HUMAN, Q9UNP4
    Similarity: Belongs to the glycosyltransferase 29 family


    ST3GAL5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SIAT9_HUMAN, Q9UNP4
    Function: Catalyzes the formation of ganglioside GM3 (alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,
    4-beta-D-glucosylceramide)
    Catalytic activity: CMP-N-acetylneuraminate + beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide = CMP +
    alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide

         Enzyme Number (IUBMB): EC 2.4.99.91 2

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004513neolactotetraosylceramide alpha-2,3-sialyltransferase activity TAS9822625
    GO:0008373sialyltransferase activity TAS10092602
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0047291lactosylceramide alpha-2,3-sialyltransferase activity IDA9822625
         
    ST3GAL5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ST3GAL5:
     Decreased p24 protein expressi 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for St3gal5):
     endocrine/exocrine gland  homeostasis/metabolism 

    ST3GAL5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out St3gal5tm1Rlp for ST3GAL5

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ST3GAL5 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ST3GAL5 
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    hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-495 hsa-miR-520d-5p hsa-miR-200a hsa-miR-302e hsa-miR-373*
    SwitchGear 3'UTR luciferase reporter plasmidST3GAL5 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ST3GAL5


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ST3GAL5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ganglio Sphingolipid Metabolism
    Glycosphingolipid biosynthesis - ganglio series0.53
    Ganglio Sphingolipid Metabolism0.53
    2Metabolism
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ST3GAL5
        Ganglio Sphingolipid Metabolism


    2         Kegg Pathways  (Kegg details for ST3GAL5):
        Glycosphingolipid biosynthesis - ganglio series
    Metabolic pathways


    ST3GAL5 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ST3GAL5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/6 Interacting proteins for ST3GAL5 (ENSP000003665494) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    B4GALNT1ENSP000003415624STRING: ENSP00000341562
    HEXBENSP000002614164STRING: ENSP00000261416
    ST8SIA1ENSP000003793534STRING: ENSP00000379353
    HEXAENSP000002680974STRING: ENSP00000268097
    B4GALT6ENSP000003064594STRING: ENSP00000306459
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001574ganglioside biosynthetic process NAS9822625
    GO:0005975carbohydrate metabolic process TAS9822625
    GO:0006486protein glycosylation IEA--
    GO:0006688glycosphingolipid biosynthetic process TAS10092602
    GO:0097503sialylation TAS10092602

    ST3GAL5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ST3GAL5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ST3GAL5 (SIAT9)

    10/106 HMDB Compounds for ST3GAL5 (see all 106)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Ganglioside GM1 (d18:0/12:0) --12486725
    Ganglioside GM1 (d18:0/14:0) --12486725
    Ganglioside GM1 (d18:0/16:0) --12486725
    Ganglioside GM1 (d18:0/18:0) --12486725
    Ganglioside GM1 (d18:0/18:1(11Z)) --12486725
    Ganglioside GM1 (d18:0/18:1(9Z)) --12486725
    Ganglioside GM1 (d18:0/20:0) --12486725
    Ganglioside GM1 (d18:0/22:0) --12486725
    Ganglioside GM1 (d18:0/22:1(13Z)) --12486725
    Ganglioside GM1 (d18:0/23:0) --12486725

    1 Novoseek inferred chemical compound relationship for ST3GAL5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ganglioside 78.8 4 17050284 (2), 9822625 (1), 15385432 (1)

    Search CenterWatch for drugs/clinical trials and news about ST3GAL5 / SIAT9

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ST3GAL5 gene (2 alternative transcripts): 
    NM_001042437.1  NM_003896.3  

    Unigene Cluster for ST3GAL5:

    ST3 beta-galactoside alpha-2,3-sialyltransferase 5
    Hs.415117  [show with all ESTs]
    Unigene Representative Sequence: AK127346
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000393808(uc010fgq.1 uc002sqp.1) ENST00000393805 ENST00000377332(uc002sqq.1)
    ENST00000461206 ENST00000306262 ENST00000455892 ENST00000433665 ENST00000487896
    ENST00000473122 ENST00000461892 ENST00000461199 ENST00000484728 ENST00000490946
    ENST00000525834(uc010ysy.1 uc010ysz.1)
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    Additional mRNA sequence: 

    AB018356.1 AF105026.1 AF119415.1 AF119418.1 AF161396.1 AF344831.1 AF344832.1 AK001340.1 
    AK124862.1 AK127346.1 AK295252.1 AK315955.1 AY152815.2 AY359105.1 BC009887.2 BC065936.1 

    18 DOTS entries:

    DT.444768  DT.101983500  DT.92432880  DT.95257372  DT.101983499  DT.70102438  DT.120937211  DT.40193961 
    DT.92022367  DT.97801418  DT.120937224  DT.92432878  DT.100730983  DT.120937244  DT.75180100  DT.95177964 
    DT.120937193  DT.97798513 

    24/195 AceView cDNA sequences (see all 195):

    AA448833 BQ343876 BE501262 CB053451 BF111489 BF223269 AK124862 AA604937 
    R18785 AI150920 BU727819 BG770128 AF344831 BM693128 BC009887 CA503200 
    CD364551 AW241555 AW338062 BU689975 AI656692 AW418970 CA426072 AI767929 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ST3GAL5 (see all 12)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ·
    SP1:                                                              -     -     -     -     -     -     -                       -                                 
    SP2:              -     -     -     -                             -     -     -     -     -     -     -                       -                                 
    SP3:                          -     -                             -     -     -     -     -     -     -                       -                                 
    SP4:                                                              -     -     -                       -                       -                 -               
    SP5:                                                                                      -     -     -                       -                                 

    ExUns: 14c · 14d
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for ST3GAL5

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ST3GAL5 expression in normal human tissues (normalized intensities)      ST3GAL5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGAGTACA
    ST3GAL5 Expression
    About this image


    ST3GAL5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Liver (Hepatobiliary System)
             Periportal Hepatocytes Liver Lobule
     
     Neural Tube (Nervous System)
             Diencephalon
     
     Brain (Nervous System)
             Hypothalamus
     
     Uncategorized (Uncategorized)
             PureStem Progenitor ES-236

     -- (Nervous System)
             mouse/organ system/nervous system/central nervous system   

    See ST3GAL5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ST3GAL5

    SOURCE GeneReport for Unigene cluster: Hs.415117

    UniProtKB/Swiss-Prot: SIAT9_HUMAN, Q9UNP4
    Tissue specificity: Ubiquitous. High expression in brain, skeletal muscle, placenta, and testis

        SABiosciences Expression via Pathway-Focused PCR Array including ST3GAL5: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ST3GAL5 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia St3gal51 , 5 ST3 beta-galactoside alpha-2,3-sialyltransferase 51, 5 84.34(n)1
    84.02(a)1
      6 (32.24 cM)5
    204541  NM_001035228.11  NP_001030305.11 
     720976135 
    chicken
    (Gallus gallus)
    Aves ST3GAL51 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 72.56(n)
    69.89(a)
      407775  NM_001001192.1  NP_001001192.1 
    lizard
    (Anolis carolinensis)
    Reptilia ST3GAL56
    Uncharacterized protein
    66(a)
    1 ↔ 1
    GL343395.1(799115-835006)
    zebrafish
    (Danio rerio)
    Actinopterygii st3gal51 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 53.06(n)
    48.42(a)
      394230  NM_199516.2  NP_955810.2 


    ENSEMBL Gene Tree for ST3GAL5 (if available)
    TreeFam Gene Tree for ST3GAL5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ST3GAL5 gene
    ST3GAL32  ST6GALNAC12  ST3GAL62  ST6GALNAC22  ST3GAL12  ST3GAL42  ST3GAL22  
    5 SIMAP similar genes for ST3GAL5 using alignment to 5 protein entries:     SIAT9_HUMAN (see all proteins):
    ST3GAL3    ST3GalIII    SIAT4C    ST3GAL4    ST3GAL6

    ST3GAL5 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ST3GAL5
    PGOHUM00000235182


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1014 SNPs in ST3GAL5 are shown (see all 1014)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048936681,2
    C,Fpathogenic185935727(-) GGGTAC/TGACTC 4 R * stg12Minor allele frequency- T:0.00NA EU 5843
    VAR_0255104
    ----see VAR_0255102 H R mis40--------
    rs778890921,2
    F--85929864(+) TATGAC/GCTGAC 2 -- ds50011Minor allele frequency- G:0.05WA 118
    rs1460562521,2
    C--85930059(+) GGAAC-/AGAGTAG 2 -- ds50010--------
    rs1825333191,2
    --85930144(+) CCACCA/GACACC 2 -- ds50010--------
    rs780175391,2
    C,F--85930160(+) TCTCTT/CCAGAA 2 -- ds50011Minor allele frequency- C:0.02WA 118
    rs744919731,2
    F--85930162(+) TCTTCA/TGAAGG 2 -- ds50011Minor allele frequency- T:0.03NA 120
    rs1857681411,2
    --85930169(+) AAGGGC/TTCACA 2 -- ds50010--------
    rs1905332851,2
    --85930185(+) CTGGAC/TTCAAG 2 -- ds50010--------
    rs1506439871,2
    C--85930208(+) CCAGGC/TGCCTT 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for ST3GAL5 (86066267 - 86116157 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ST3GAL5: --

    Human Gene Mutation Database (HGMD): ST3GAL5
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604402   
    OMIM disorders: 609056  
    UniProtKB/Swiss-Prot: SIAT9_HUMAN, Q9UNP4
  • Amish infantile epilepsy syndrome (AIES) [MIM:609056]: An autosomal recessive, infantile-onset
    symptomatic epilepsy associated with developmental stagnation and blindness. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 7 diseases for ST3GAL5:    About MalaCards
    epilepsy syndrome    amish infantile epilepsy syndrome    acute leukemia    blindness
    retinitis    ovarian cancer    leukemia

    1 disease from the University of Copenhagen DISEASES database for ST3GAL5:
    Cortical blindness

    ST3GAL5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ST3GAL5
    Human Genome Epidemiology (HuGE) Navigator: ST3GAL5 (3 documents)

    Export disorders for ST3GAL5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ST3GAL5 gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with ST3GAL5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression cloning and functional characterization of human cDNA for ganglioside GM3 synthase. (PubMed id 9822625)1, 2, 3, 9 Ishii A.... Saito M. (1998)
    2. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility 'hot-spot'. (PubMed id 20628624)1, 4 Johnatty S.E.... . (2010)
    3. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    4. Human GM3 synthase: a new mRNA variant encodes an NH2-terminal extended form of the protein. (PubMed id 16934889)1, 2 Berselli P....Colombo I. (2006)
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. (PubMed id 15502825)1, 2 Simpson M.A....Crosby A.H. (2004)
    8. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    9. Elevated mRNA level of hST6Gal I and hST3Gal V positi vely correlates with the high risk of pediatric acute leukemia. (PubMed id 19709745)1, 9 Mondal S....Mandal C. (2010)
    10. Ganglioside depletion and EGF responses of human GM3 synthase-deficient fibroblasts. (PubMed id 18480157)1, 9 Liu Y....Ladisch S. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8869 HGNC: 10872 AceView: SIAT9 Ensembl:ENSG00000115525 euGenes: HUgn8869
    ECgene: ST3GAL5 Kegg: 8869 H-InvDB: ST3GAL5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ST3GAL5 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ST3GAL5
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_626

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ST3GAL5 gene:
    Search GeneIP for patents involving ST3GAL5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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