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GAL3ST1 Gene

protein-coding   GIFtS: 55
GCID: GC22M030950

Galactose-3-O-Sulfotransferase 1

  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
Galactose-3-O-Sulfotransferase 11 2     GalCer Sulfotransferase2 3
CST2 3 5     Cerebroside (3' Phosphoadenylylsulfate:Galactosylceramide 3')
Sulfotransferase1
Cerebroside Sulfotransferase2 3     Cerebroside (3'-Phosphoadenylylsulfate:Galactosylceramide 3')
Sulfotransferase2
3'-Phosphoadenosine-5'-Phosphosulfate:GalCer Sulfotransferase2 3     Galactosylceramide Sulfotransferase2
3'-Phosphoadenylylsulfate:Galactosylceramide 3'-Sulfotransferase2 3     EC 2.8.2.113

External Ids:    HGNC: 242401   Entrez Gene: 95142   Ensembl: ENSG000001282427   OMIM: 6023005   UniProtKB: Q999993   

Export aliases for GAL3ST1 gene to outside databases

Previous GC identifers: GC22M029276 GC22M029277 GC22M013912


(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 GAL3ST1 Gene:
Sulfonation, an important step in the metabolism of many drugs, xenobiotics, hormones, and neurotransmitters, is
catalyzed by sulfotransferases. The product of this gene is galactosylceramide sulfotransferase which catalyzes
the conversion between 3'-phosphoadenylylsulfate + a galactosylceramide to adenosine 3',5'-bisphosphate +
galactosylceramide sulfate. Activity of this sulfotransferase is enhanced in renal cell carcinoma. (provided by
RefSeq, Jul 2008)

GeneCards Summary for GAL3ST1 Gene:
GAL3ST1 (galactose-3-O-sulfotransferase 1) is a protein-coding gene. Diseases associated with GAL3ST1 include renal cell carcinoma, and metachromatic leukodystrophy. GO annotations related to this gene include galactosylceramide sulfotransferase activity and sulfotransferase activity. An important paralog of this gene is GAL3ST4.

UniProtKB/Swiss-Prot: G3ST1_HUMAN, Q99999
Function: Catalyzes the sulfation of membrane glycolipids. Seems to prefer beta-glycosides at the non-reducing
termini of sugar chains attached to a lipid moiety. Catalyzes the synthesis of galactosylceramide sulfate
(sulfatide), a major lipid component of the myelin sheath and of monogalactosylalkylacylglycerol sulfate
(seminolipid), present in spermatocytes (By similarity). Also acts on lactosylceramide, galactosyl
1-alkyl-2-sn-glycerol and galactosyl diacylglycerol (in vitro)

Gene Wiki entry for GAL3ST1 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_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GAL3ST1 gene promoter:
         Tal-1   ATF-2   Egr-1   E47   CREB   Max   PPAR-alpha   CRE-BP1   ITF-2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GAL3ST1 promoter sequence
   Search Chromatin IP Primers for GAL3ST1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GAL3ST1


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

Entrez Gene cytogenetic band: 22q12.2   Ensembl cytogenetic band:  22q12.2   HGNC cytogenetic band: 22q12.2

GAL3ST1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GAL3ST1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M030950:  view genomic region     (about GC identifiers)

Start:
30,950,622 bp from pter      End:
30,970,574 bp from pter
Size:
19,953 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: G3ST1_HUMAN, Q99999 (See protein sequence)
Recommended Name: Galactosylceramide sulfotransferase  
Size: 423 amino acids; 48764 Da
Secondary accessions: Q96C63

Explore the universe of human proteins at neXtProt for GAL3ST1: NX_Q99999

Explore proteomics data for GAL3ST1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn66, Asn312

  • See GAL3ST1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004852.1  
    ENSEMBL proteins: 
     ENSP00000385825   ENSP00000385735   ENSP00000384122   ENSP00000384388   ENSP00000385207  
     ENSP00000390545   ENSP00000395080   ENSP00000405017   ENSP00000401426   ENSP00000391485  
     ENSP00000397092   ENSP00000391996   ENSP00000405381   ENSP00000401074   ENSP00000389876  
     ENSP00000398380   ENSP00000414542   ENSP00000412995   ENSP00000394912   ENSP00000399649  
     ENSP00000390068   ENSP00000343234   ENSP00000402587  
    Reactome Protein details: Q99999

    GAL3ST1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SULTM: Sulfotransferases, membrane-bound

    2 InterPro protein domains:
     IPR009729 Gal-3-0_sulfotransfrase
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q99999

    ProtoNet protein and cluster: Q99999

    1 Blocks protein domain: IPB009729 Galactose-3-O-sulfotransferase

    UniProtKB/Swiss-Prot: G3ST1_HUMAN, Q99999
    Similarity: Belongs to the galactose-3-O-sulfotransferase family


    GAL3ST1 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: G3ST1_HUMAN, Q99999
    Function: Catalyzes the sulfation of membrane glycolipids. Seems to prefer beta-glycosides at the non-reducing
    termini of sugar chains attached to a lipid moiety. Catalyzes the synthesis of galactosylceramide sulfate
    (sulfatide), a major lipid component of the myelin sheath and of monogalactosylalkylacylglycerol sulfate
    (seminolipid), present in spermatocytes (By similarity). Also acts on lactosylceramide, galactosyl
    1-alkyl-2-sn-glycerol and galactosyl diacylglycerol (in vitro)
    Catalytic activity: 3'-phosphoadenylyl sulfate + a galactosylceramide = adenosine 3',5'-bisphosphate + a
    galactosylceramidesulfate
    Catalytic activity: 3'-phosphoadenylyl sulfate + monogalactosylalkylacylglycerol = adenosine 3',5'-bisphosphate +
    monogalactosylalkylacylglycerol sulfate

         Enzyme Number (IUBMB): EC 2.8.2.111

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001733galactosylceramide sulfotransferase activity IEA--
    GO:0008146sulfotransferase activity TAS9030544
         
    GAL3ST1 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gal3st1):
     behavior/neurological  cellular  endocrine/exocrine gland  homeostasis/metabolism  mortality/aging 
     nervous system  renal/urinary system  reproductive system 

    GAL3ST1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gal3st1tm1Kho for GAL3ST1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GAL3ST1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GAL3ST1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GAL3ST1

    miRNA
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    miRTarBase miRNAs that target GAL3ST1:
    hsa-mir-26b-5p (MIRT029958)

    Block miRNA regulation of human, mouse, rat GAL3ST1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate GAL3ST1:
    hsa-miR-200c hsa-miR-429 hsa-miR-593* hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidGAL3ST1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat GAL3ST1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GAL3ST1


    (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
    G3ST1_HUMAN, Q99999: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    plasma membrane4
    extracellular2
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005794Golgi apparatus ----
    GO:0005887integral component of plasma membrane TAS9030544
    GO:0016020membrane TAS9030544
    GO:0016021integral component of membrane ----

    GAL3ST1 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 GAL3ST1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Glycosphingolipid metabolism0.56
    Sphingolipid metabolism0.61
    Sphingolipid Metabolism0.42
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Biological oxidations
    metapathway biotransformation0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for GAL3ST1
        Sphingolipid Metabolism
    metapathway biotransformation

    1 Reactome Pathway for GAL3ST1
        Glycosphingolipid metabolism


    2 Kegg Pathways  (Kegg details for GAL3ST1):
        Sphingolipid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: G3ST1_HUMAN, Q99999
    Pathway: Lipid metabolism; sphingolipid metabolism


    GAL3ST1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GAL3ST1
    Interactions:

        Search GeneGlobe Interaction Network for GAL3ST1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for GAL3ST1 (ENSP000003432344) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    GALCENSP000002613044STRING: ENSP00000261304
    GLAENSP000002185164STRING: ENSP00000218516
    UGT8ENSP000003116484STRING: ENSP00000311648
    ENSG00000234343ENSP000004094894STRING: ENSP00000409489
    NEU2ENSP000002338404STRING: ENSP00000233840
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006487protein N-linked glycosylation TAS9030544
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006682galactosylceramide biosynthetic process IEA--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0007283spermatogenesis IEA--

    GAL3ST1 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 GAL3ST1 (G3ST1)

    Selected HMDB Compounds for GAL3ST1 (see all 876)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
    3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
    3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
    3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
    3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--
    3-O-Sulfogalactosylceramide (d18:1/26:1(17Z))Sulfatide (d18:1/26:1(17Z)) (see all 13)928346-40-1--

    8 Novoseek inferred chemical compound relationships for GAL3ST1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cerebroside 95.6 22 10727929 (2), 1715232 (1), 10378772 (1), 17715338 (1) (see all 13)
    galactosylceramide 89.9 11 18097285 (2), 9030544 (1), 12175333 (1), 1330860 (1) (see all 7)
    sulfatide 82.6 10 19895791 (2), 9030544 (1), 10378772 (1), 17715338 (1) (see all 5)
    psychosine 79.7 1 8830034 (1)
    lactosylceramide 70.6 1 12626418 (1)
    glycolipid 65.3 5 1715232 (1), 10378772 (1), 9731487 (1)
    galactose 43.5 1 11333265 (1)
    lactose 35.1 1 11029462 (1)



    GAL3ST1 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,
    Conferences by KenesGroup, 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 GAL3ST1 gene: 
    NM_004861.1  

    Unigene Cluster for GAL3ST1:

    Galactose-3-O-sulfotransferase 1
    Hs.17958  [show with all ESTs]
    Unigene Representative Sequence: NM_004861
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000406955(uc003aih.1 uc010gvz.1) ENST00000402321 ENST00000402369
    ENST00000401975(uc003aii.1) ENST00000406361 ENST00000441967 ENST00000431313
    ENST00000452827 ENST00000437282 ENST00000416358 ENST00000427899 ENST00000423299
    ENST00000443136 ENST00000423371 ENST00000428682 ENST00000453479 ENST00000426220
    ENST00000447224
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    hsa-miR-200c hsa-miR-429 hsa-miR-593* hsa-miR-200b
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    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat GAL3ST1
      QuantiFast Probe-based Assays in human, mouse, rat GAL3ST1

    Additional mRNA sequence: 

    AK313097.1 BC014649.1 BC019077.2 CR456350.1 D88667.1 

    9 DOTS entries:

    DT.111025  DT.100699387  DT.91759420  DT.91759424  DT.120634337  DT.120634354  DT.120634341  DT.120634353 
    DT.95162593 

    Selected AceView cDNA sequences (see all 68):

    AW473494 AW137588 D88667 CR595763 BC019077 AI052490 BE018867 BI760652 
    NM_004861 BC014649 CR456350 BI753118 BG423020 BX410867 AW270838 AA004502 
    BG251254 BM794092 BM807579 AI077359 BX410865 BG327446 AW294989 BI761600 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GAL3ST1 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g · 7h · 7i · 7j · 7k · 7l
    SP1:                    -     -     -     -     -     -           -     -                                                                                 
    SP2:                                                  -           -     -                                                                                 
    SP3:                                                  -                 -                                                                                 
    SP4:                                                              -     -                                                                                 
    SP5:                    -     -     -     -     -     -     -     -     -                                                                                 


    ECgene alternative splicing isoforms for GAL3ST1

    (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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    GAL3ST1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    GAL3ST1 Expression
    About this image

    GAL3ST1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GAL3ST1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.17958

    UniProtKB/Swiss-Prot: G3ST1_HUMAN, Q99999
    Tissue specificity: Expressed in kidney proximal tubule, gastric mucosa and adenocarcinoma. Highly expressed in
    renal cell carcinoma cell lines

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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 GAL3ST1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gal3st11 , 5 galactose-3-O-sulfotransferase 11, 5 83.49(n)1
    84.69(a)1
      11 (2.81 cM)5
    538971  NM_001177691.11  NP_001171162.11 
     39836365 
    chicken
    (Gallus gallus)
    Aves GAL3ST11 galactose-3-O-sulfotransferase 1 77.06(n)
    70.71(a)
      417006  XM_415296.4  XP_415296.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    70(a)
    70(a)
    many → 1
    many → 1
    GL343417.1(166392-168467)
    AAWZ02039048(5938-7651)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC045120.12   -- 76.59(n)    BC045120.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gal3st11 galactose-3-O-sulfotransferase 1 62.98(n)
    58.41(a)
      793735  NM_001126452.1  NP_001119924.1 


    ENSEMBL Gene Tree for GAL3ST1 (if available)
    TreeFam Gene Tree for GAL3ST1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GAL3ST1 gene
    GAL3ST42  GAL3ST22  GAL3ST32  
    2 SIMAP similar genes for GAL3ST1 using alignment to 17 protein entries:     G3ST1_HUMAN (see all proteins):
    GAL3ST2    GAL3ST3

    GAL3ST1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for GAL3ST1
    PGOHUM00000241156


    (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 GAL3ST1 (see all 321)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1894021191,2
    --30950217(+) AGTGAC/TTGTCC 1 -- ds50010--------
    rs1450930901,2
    --30950277(+) AGGTCA/GCTGAG 1 -- ds50010--------
    rs22671581,2
    C,F,A,H--30950360(+) TACTCT/CGTTGT 1 -- ds500127Minor allele frequency- C:0.39NS EA NA WA CSA 2772
    rs1471716421,2
    --30950398(+) CACACA/GTGCAC 1 -- ds50010--------
    rs731686941,2
    C--30950436(+) CACGCA/G/TCTTTT 1 -- ds50010--------
    rs59976841,2
    F--30950514(+) CAAATC/TCCTGC 1 -- ds50011Minor allele frequency- T:0.04WA 118
    rs1173824701,2
    F--30950549(+) ACTCAC/TCCAGG 1 -- ds50011Minor allele frequency- T:0.02NA 120
    rs768764271,2
    C,F--30950754(+) TGATCT/GCGGTT 1 -- ut311Minor allele frequency- G:0.05WA 118
    rs753443641,2
    C,F--30950775(+) TGTGTT/GCATGG 1 -- ut311Minor allele frequency- G:0.05WA 118
    rs1157740301,2
    F--30950801(+) GCTGCC/GTCCCC 1 -- ut311Minor allele frequency- G:0.05WA 118

    HapMap Linkage Disequilibrium report for GAL3ST1 (30950622 - 30970574 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GAL3ST1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv829171CNV Loss20364138

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GAL3ST1
    DNA2.0 Custom Variant and Variant Library Synthesis for GAL3ST1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602300    OMIM disorders: --

    10 diseases for GAL3ST1:    About MalaCards
    renal cell carcinoma    metachromatic leukodystrophy    leukodystrophy    gastritis
    hepatocellular carcinoma    insulin resistance    melanoma    adenocarcinoma
    hepatitis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for GAL3ST1:
    Metachromatic leukodystrophy

    GAL3ST1 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for GAL3ST1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma renal cell 54.6 7 8830034 (2), 10785389 (1), 9731487 (1)
    hepatocellular carcinoma 25.5 1 1715232 (1)
    cancer 0 1 10378772 (1)


    Export disorders for GAL3ST1 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 GAL3ST1 gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with GAL3ST1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of cDNA encoding human 3'- phosphoadenylylsulfate:galactosylceramide 3'-sulfotransferase. (PubMed id 9030544)1, 2, 3, 9 Honke K.... Wada Y. (J. Biol. Chem. 1997)
    2. Cancer-associated alternative usage of multiple promoters of human GalCer sulfotransferase gene. (PubMed id 10785389)1, 2, 9 Tsuda M.... Honke K. (Eur. J. Biochem. 2000)
    3. Purification and characterization of 3'-phosphoadenosine-5'- phosphosulfate:GalCer sulfotransferase from human renal cancer cells. (PubMed id 8830034)1, 2, 9 Honke K.... Makita A. (J. Biochem. 1996)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    6. Toward a complete human genome sequence. (PubMed id 9847074)1, 3 Sulston J.E. and Waterston R. (Genome Res. 1998)
    7. N-glycosylation is required for full enzymic activity of the murine galactosylceramide sulphotransferase. (PubMed id 12175333)1, 9 Eckhardt M....Gieselmann V. (Biochem. J. 2002)
    8. A variation in the cerebroside sulfotransferase gene is linked to exercise-modified insulin resistance and to type 2 diabetes. (PubMed id 19587831)1, 9 Roeske-Nielsen A....Lindblad U. (Exp Diabetes Res 2009)
    9. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 9514 HGNC: 24240 AceView: GAL3ST1 Ensembl:ENSG00000128242 euGenes: HUgn9514
    ECgene: GAL3ST1 Kegg: 9514 H-InvDB: GAL3ST1

    (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 GAL3ST1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GAL3ST1 Genetics and Cytogenetics in Oncology and Haematology
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=GAL3ST1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GAL3ST1 gene:
    Search GeneIP for patents involving GAL3ST1

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



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