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ST3GAL5 Gene

protein-coding   GIFtS: 61
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 amish infantile epilepsy syndrome, and epilepsy syndrome. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   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 Chromatin IP Primers for ST3GAL5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SIAT9_HUMAN, Q9UNP4 (See protein sequence)
Recommended Name: Lactosylceramide alpha-2,3-sialyltransferase  
Size: 418 amino acids; 47990 Da
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: 

  • N-glycosylated1
  • Glycosylation2 at Asn86, Asn236, Asn390
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ST3GAL5 (Q9UNP4) (see all 7)
     DVVIRLN  MHNVTTET  VLFKSVDF  QPRTPLHYFD 


    See ST3GAL5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000377397   ENSP00000377394   ENSP00000366549   ENSP00000306247   ENSP00000401375  
     ENSP00000408635   ENSP00000433607  
    Reactome Protein details: Q9UNP4

    ST3GAL5 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for ST3GAL5
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    Novus Biologicals ST3GAL5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    ST3GAL5 Antibody Products:

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    Search for Antibodies for ST3GAL5 at Abcam
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    ThermoFisher Antibody for ST3GAL5
    LSBio Antibodies in human, mouse, rat for ST3GAL5

    ST3GAL5 Assay Products:

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    GenScript Custom Assay Services for ST3GAL5
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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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: Let us create your new Knockout/Knockin mouse model for ST3GAL5
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ST3GAL5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ST3GAL5

    miRNA
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    miRTarBase miRNAs that target ST3GAL5:
    hsa-mir-335-5p (MIRT018189), hsa-mir-7-5p (MIRT047769), hsa-mir-186-5p (MIRT045016)

    Block miRNA regulation of human, mouse, rat ST3GAL5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ST3GAL5 (see all 28):
    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
    Products:
        
    OriGene RNAi products in human, mouse, rat for ST3GAL5
    Predesigned siRNA for gene silencing in human, mouse, rat ST3GAL5

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for ST3GAL5 (see all 14)
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    GenScript: all cDNA clones in your preferred vector (see all 2): ST3GAL5 (NM_003896)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ST3GAL5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ST3GAL5

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ST3GAL5


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SIAT9_HUMAN, Q9UNP4: Golgi apparatus membrane; Single-pass type II membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    plasma membrane4
    cytosol2
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    ST3GAL5 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ST3GAL5 About    
    See pathways by source

    SuperPathContained pathways About
    1Glycosphingolipid biosynthesis - ganglio series
    Ganglio Sphingolipid Metabolism0.53
    Glycosphingolipid biosynthesis - ganglio series0.53
    2Metabolism
    Metabolic pathways0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ST3GAL5
        Ganglio Sphingolipid Metabolism

    1 Reactome Pathway for ST3GAL5
        Sialic acid metabolism


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


    ST3GAL5 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ST3GAL5: 
              Antifungal Response in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ST3GAL5

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

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

    Gene Ontology (GO): 5 biological process terms:    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ST3GAL5 (SIAT9)

    Selected 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)



    ST3GAL5 for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ST3GAL5 (see all 28):
    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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    GenScript: all cDNA clones in your preferred vector (see all 2): ST3GAL5 (NM_003896)
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ST3GAL5
      QuantiTect SYBR Green Assays in human, mouse, rat ST3GAL5
      QuantiFast Probe-based Assays in human, mouse, rat ST3GAL5

    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 

    Selected AceView cDNA sequences (see all 195):

    BI768039 BM693128 AK124862 BU727819 BF111489 NM_003896 BM717952 AA648973 
    AA448833 AK001340 CD364551 AW241555 BX097059 CA503200 AK127346 BG770128 
    CA426072 BC065936 AY152815 AL542533 AI150920 AW195053 AI767929 AI089834 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ST3GAL5 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 5) fully expand
     
     Liver (Hepatobiliary System)
             Periportal Hepatocytes Liver Lobule
     
     Neural Tube (Nervous System)
             Diencephalon
     
     Brain (Nervous System)
             Hypothalamus
     
     Thyroid (Endocrine System)
     
     Adrenal Gland (Endocrine System)
    ST3GAL5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ST3GAL5 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including ST3GAL5: 
              Antifungal Response in human mouse rat

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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ST3GAL5 gene from Selected species (see all 11)    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 83.62(n)1
    83.05(a)1
      6 (32.24 cM)5
    204541  NM_001035228.21  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
    ST3 beta-galactoside alpha-2,3-sialyltransferase 5...
    66(a)
    1 ↔ 1
    GL343395.1(799115-835006)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia st3gal51 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 61.97(n)
    60.26(a)
      100329191  NM_001171830.1  NP_001165301.1 
    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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ST3GAL5 (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
    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--------
    rs10003741,2
    C,F,O,H--85930235(+) CTACTG/AGCATC 2 -- ds500117Minor allele frequency- A:0.08NA EA MN NS 2268

    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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ST3GAL5
    DNA2.0 Custom Variant and Variant Library Synthesis for ST3GAL5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 12 diseases for ST3GAL5:    
    About MalaCards
    amish infantile epilepsy syndrome    epilepsy syndrome    salt-and-pepper syndrome    cortical blindness
    blindness    acute leukemia    retinitis    ovarian cancer
    hiv-1    leukemia    multiple myeloma    myeloma

    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)
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    PubMed articles for ST3GAL5 gene, integrated from 10 sources (see all 34):
    (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. (J. Biol. Chem. 1998)
    2. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility &quot;hot-spot&quot;. (PubMed id 20628624)1, 4 Johnatty S.E.... . (PLoS Genet. 2010)
    3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 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. (Biochim. Biophys. Acta 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. (Nature 2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Nat. Genet. 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. (Genome Res. 2003)
    9. Elevated mRNA level of hST6Gal I and hST3Gal V positively correlates with the high risk of pediatric acute leukemia. (PubMed id 19709745)1, 9 Mondal S....Mandal C. (Leuk. Res. 2010)
    10. Ganglioside depletion and EGF responses of human GM3 synthase-deficient fibroblasts. (PubMed id 18480157)1, 9 Liu Y....Ladisch S. (Glycobiology 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 8869 HGNC: 10872 AceView: SIAT9 Ensembl:ENSG00000115525 euGenes: HUgn8869
    ECgene: ST3GAL5 Kegg: 8869 H-InvDB: ST3GAL5

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ST3GAL5 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.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.)
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    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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