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HS6ST1 Gene

protein-coding   GIFtS: 59
GCID: GC02M128929

Heparan Sulfate 6-O-Sulfotransferase 1


(Previous symbol: HS6ST)
  See HS6ST1-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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Heparan Sulfate 6-O-Sulfotransferase 11 2     Heparan-Sulfate 6-O-Sulfotransferase 12
HS6ST1 2 3 5     Heparan-Sulfate 6-Sulfotransferase2
HS6ST-12 3     EC 2.8.2.-3
HH152 5     EC 2.8.28

External Ids:    HGNC: 52011   Entrez Gene: 93942   Ensembl: ENSG000001367207   OMIM: 6048465   UniProtKB: O602433   
ORGUL members:         

Export aliases for HS6ST1 gene to outside databases

Previous GC identifers: GC02M126324 GC02M126947 GC02M129118 GC02M128741 GC02M121328


(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 HS6ST1 Gene:
The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate
biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that
carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible
for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known
sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. (provided by RefSeq, Jul
2008)

GeneCards Summary for HS6ST1 Gene:
HS6ST1 (heparan sulfate 6-O-sulfotransferase 1) is a protein-coding gene. Diseases associated with HS6ST1 include hypogonadotropic hypogonadism 15 with or without anosmia, and hypogonadotropic hypogonadism 17 with or without anosmia. GO annotations related to this gene include sulfotransferase activity. An important paralog of this gene is HS6ST3.

UniProtKB/Swiss-Prot: H6ST1_HUMAN, O60243
Function: 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate
(PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. Critical for normal neuronal
development where it may play a role in neuron branching. May also play a role in limb development. May prefer
iduronic acid




(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 at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the HS6ST1 gene promoter:
         AhR   POU3F1   MIF-1   C/EBPalpha   Arnt   AREB6   CREB   HEN1   SRY   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHS6ST1 promoter sequence
   Search Chromatin IP Primers for HS6ST1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HS6ST1


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

Entrez Gene cytogenetic band: 2q21   Ensembl cytogenetic band:  2q14.3   HGNC cytogenetic band: 2q21

HS6ST1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HS6ST1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M128929:  view genomic region     (about GC identifiers)

Start:
128,994,290 bp from pter      End:
129,076,171 bp from pter
Size:
81,882 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: H6ST1_HUMAN, O60243 (See protein sequence)
Recommended Name: Heparan-sulfate 6-O-sulfotransferase 1  
Size: 411 amino acids; 48226 Da
Sequence caution: Sequence=AAY14736.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA25760.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA25760.1;
Type=Frameshift; Positions=5, 7; Sequence=BAG57153.1; Type=Erroneous initiation; Note=Translation N-terminally
extended;
Secondary accessions: B4DEP2 B4DJ29 Q53SL2 Q9BVI1
Alternative splicing: 2 isoforms:  O60243-1   O60243-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HS6ST1: NX_O60243

Explore proteomics data for HS6ST1 at MOPED

Post-translational modifications: 

  • N-glycosylated (By similarity)1
  • Glycosylation2 at Asn264, Asn320
  • Selected DME Specific Peptides for HS6ST1 (O60243) (see all 13)
     GQKKCTC  QYNSTRA  DLFQQRY  MAFFGLTE 


    See HS6ST1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004798.3  
    ENSEMBL proteins: 
     ENSP00000259241  
    Reactome Protein details: O60243

    HS6ST1 Human Recombinant Protein Products:

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    Novus Biologicals HS6ST1 Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for HS6ST1

     
    Search eBioscience for Proteins for HS6ST1 

     
    antibodies-online proteins for HS6ST1 (3 products) 

     
    antibodies-online peptides for HS6ST1

    HS6ST1 Antibody Products:

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    antibodies-online antibodies for HS6ST1 (24 products) 

    HS6ST1 Assay 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

    3 InterPro protein domains:
     IPR010635 Heparan_SO4-6-sulfoTrfase
     IPR005331 Sulfotransferase
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry O60243

    ProtoNet protein and cluster: O60243

    UniProtKB/Swiss-Prot: H6ST1_HUMAN, O60243
    Similarity: Belongs to the sulfotransferase 6 family


    Find genes that share domains with HS6ST1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: H6ST1_HUMAN, O60243
    Function: 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate
    (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. Critical for normal neuronal
    development where it may play a role in neuron branching. May also play a role in limb development. May prefer
    iduronic acid
    Catalytic activity: 3'-phosphoadenylyl sulfate + [heparan sulfate]-glucosamine = adenosine 3',5'-bisphosphate +
    [heparan sulfate]-glucosamine 6-sulfate

         Enzyme Numbers (IUBMB): EC 2.8.2.-1 EC 2.8.22

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008146sulfotransferase activity IEA--
         
    Find genes that share ontologies with HS6ST1           About GenesLikeMe


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Hs6st1):
     cardiovascular system  cellular  embryogenesis  endocrine/exocrine gland  growth/size/body 
     homeostasis/metabolism  limbs/digits/tail  mortality/aging  respiratory system  skeleton 
     vision/eye 

    Find genes that share phenotypes with HS6ST1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Hs6st1tm1Kkm for HS6ST1

       genOway: Develop your customized and physiologically relevant rodent model for HS6ST1

    miRNA
    Products:
        
    miRTarBase miRNAs that target HS6ST1:
    hsa-mir-615-3p (MIRT040365)

    Block miRNA regulation of human, mouse, rat HS6ST1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HS6ST1 (see all 34):
    hsa-miR-4305 hsa-miR-486-3p hsa-miR-629 hsa-miR-181b hsa-miR-1298 hsa-miR-320d hsa-miR-181a hsa-miR-587
    SwitchGear 3'UTR luciferase reporter plasmidHS6ST1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HS6ST1
    Predesigned siRNA for gene silencing in human, mouse, rat HS6ST1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: HS6ST1 (NM_004807)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HS6ST1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for HS6ST1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HS6ST1


    (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
    H6ST1_HUMAN, O60243: Membrane; Single-pass type II membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus4
    plasma membrane4
    extracellular3
    cytosol1
    lysosome1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005887integral component of plasma membrane TAS9535912
    GO:0016021integral component of membrane ----

    Find genes that share ontologies with HS6ST1           About GenesLikeMe


    (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 HS6ST1 About   (see all 7)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1heparan sulfate biosynthesis
    heparan sulfate biosynthesis0.79
    heparan sulfate biosynthesis (late stages)0.00
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin0.79
    2MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIIB - Sanfilippo syndrome B0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS II - Hunter syndrome0.45
    MPS IV - Morquio syndrome A0.45
    Glycosaminoglycan metabolism0.45
    Mucopolysaccharidoses0.45
    MPS IV - Morquio syndrome B0.45
    3Heparan sulfate/heparin (HS-GAG) metabolism
    Heparan sulfate/heparin (HS-GAG) metabolism0.57
    HS-GAG biosynthesis0.57
    4Biological oxidations
    metapathway biotransformation0.42
    5Metabolism
    Metabolism0.38


    Find genes that share SuperPaths with HS6ST1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for HS6ST1
        Articular Cartilage Extracellular Matrix


    3 BioSystems Pathways for HS6ST1
        heparan sulfate biosynthesis (late stages)
    metapathway biotransformation
    heparan sulfate biosynthesis

    1 Reactome Pathway for HS6ST1
        HS-GAG biosynthesis


    1 Kegg Pathway  (Kegg details for HS6ST1):
        Glycosaminoglycan biosynthesis - heparan sulfate / heparin

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HS6ST1
    Interactions:

        Search GeneGlobe Interaction Network for HS6ST1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for HS6ST1 (ENSP000002592414) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GLCEENSP000002618584STRING: ENSP00000261858
    GPC1ENSP000002640394STRING: ENSP00000264039
    GPC2ENSP000002923774STRING: ENSP00000292377
    GPC3ENSP000003598544STRING: ENSP00000359854
    GPC4ENSP000003598644STRING: ENSP00000359864
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006024glycosaminoglycan biosynthetic process TAS--
    GO:0015012heparan sulfate proteoglycan biosynthetic process ----
    GO:0015015heparan sulfate proteoglycan biosynthetic process, enzymatic modification TAS9535912

    Find genes that share ontologies with HS6ST1           About GenesLikeMe



    (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 HS6ST1 (H6ST1)

    1 HMDB Compound for HS6ST1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Phosphoadenosine phosphosulfate3'-Phospho-5'-adenylyl sulfate (see all 9)482-67-7--

    2 Novoseek inferred chemical compound relationships for HS6ST1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    heparan sulfate 82.7 18 9535912 (2), 14660620 (1), 16966419 (1), 17113869 (1) (see all 8)
    sulfate 52 3 9535912 (1), 12492399 (1)



    Find genes that share compounds with HS6ST1           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HS6ST1 gene: 
    NM_004807.2  

    Unigene Cluster for HS6ST1:

    Heparan sulfate 6-O-sulfotransferase 1
    Hs.512841  [show with all ESTs]
    Unigene Representative Sequence: NM_004807
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000469019 ENST00000259241(uc002tpt.4) ENST00000463963 ENST00000494089

    miRNA
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    Block miRNA regulation of human, mouse, rat HS6ST1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HS6ST1 (see all 34):
    hsa-miR-4305 hsa-miR-486-3p hsa-miR-629 hsa-miR-181b hsa-miR-1298 hsa-miR-320d hsa-miR-181a hsa-miR-587
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      QuantiTect SYBR Green Assays in human, mouse, rat HS6ST1
      QuantiFast Probe-based Assays in human, mouse, rat HS6ST1

    Additional mRNA sequence: 

    AB006179.1 AK058121.1 AK293724.1 AK295898.1 AL831893.1 BC001196.1 BC019025.1 BC047087.1 
    BC063521.1 BC096239.1 BC096240.1 BC099638.3 BC099639.1 

    9 DOTS entries:

    DT.212399  DT.121451695  DT.121451692  DT.92451920  DT.120979777  DT.75103529  DT.92451921  DT.95248261 
    DT.121451687 

    Selected AceView cDNA sequences (see all 158):

    BG677487 AW295624 CA435227 BQ670826 AA385429 BG818804 BU169237 BQ643648 
    BE394146 AA340400 AW615512 BE312744 BC001196 AI868008 BM810546 T33318 
    AI139259 AI253259 BX505559 BX109274 AL831893 BU601903 NM_004807 BG179621 

    GeneLoc Exon Structure


    (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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    HS6ST1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCTTCCTGG
    HS6ST1 Expression
    About this image


    HS6ST1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod Long Bone
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Hindgut
    HS6ST1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HS6ST1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.512841

    UniProtKB/Swiss-Prot: H6ST1_HUMAN, O60243
    Tissue specificity: Expressed in fetal brain

        Custom PCR Arrays for HS6ST1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HS6ST1

    (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 animals.

    Orthologs for HS6ST1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hs6st11 , 5 heparan sulfate 6-O-sulfotransferase 11, 5 91(n)1
    97.32(a)1
      1 (15.15 cM)5
    507851  NM_015818.21  NP_056633.21 
     360684005 
    chicken
    (Gallus gallus)
    Aves HS6ST11 heparan sulfate 6-O-sulfotransferase 1 85.04(n)
    90.27(a)
      395141  NM_204482.1  NP_989813.1 
    lizard
    (Anolis carolinensis)
    Reptilia HS6ST16
    heparan sulfate 6-O-sulfotransferase 1
    85(a)
    1 ↔ 1
    3(36516604-36771113)
    African clawed frog
    (Xenopus laevis)
    Amphibia AB054535.12   -- 80.37(n)    AB054535.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hs6st1a1 heparan sulfate 6-O-sulfotransferase 1a 75.17(n)
    81.25(a)
      553162  NM_001020508.2  NP_001018344.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hs6st1 Heparan sulfate 6-O-sulfotransferase 64.09(n)
    56.49(a)
      42380  NM_001275821.1  NP_001262750.1 
    worm
    (Caenorhabditis elegans)
    Secernentea hst-66
    Protein HST-6 (hst-6) mRNA, complete cds
    39(a)
    1 → many
    X(5275567-5278517) WBGene00002031


    ENSEMBL Gene Tree for HS6ST1 (if available)
    TreeFam Gene Tree for HS6ST1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HS6ST1 gene
    HS6ST32  HS6ST22  
    2 SIMAP similar genes for HS6ST1 using alignment to 1 protein entry:     H6ST1_HUMAN:
    HS6ST3    HS6ST2

    Find genes that share paralogs with HS6ST1           About GenesLikeMe



    (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 HS6ST1 (see all 1242)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0692874
    Hypogonadotropic hypogonadism 15 with or without anosmia (HH15)4--see VAR_0692872 M V mis40--------
    VAR_0692864
    Hypogonadotropic hypogonadism 15 with or without anosmia (HH15)4--see VAR_0692862 R W mis40--------
    VAR_0692834
    Hypogonadotropic hypogonadism 15 with or without anosmia (HH15)4--see VAR_0692832 R Q mis40--------
    VAR_0692854
    Hypogonadotropic hypogonadism 15 with or without anosmia (HH15)4--see VAR_0692852 R Q mis40--------
    VAR_0692844
    Hypogonadotropic hypogonadism 15 with or without anosmia (HH15)4--see VAR_0692842 R W mis40--------
    rs101898721,2
    C,F,H--128522015(+) AGACAC/TGAGCT 1 -- ds500110Minor allele frequency- T:0.15NS EA WA NA CSA 774
    rs1477712271,2
    --128522082(+) AAAAGC/TGCGCG 1 -- ds50010--------
    rs1890640461,2
    --128522122(+) AGGATA/TAGAGA 1 -- ds50010--------
    rs1412731921,2
    --128522192(+) TGTCAC/TTTGAA 1 -- ds50010--------
    rs612861751,2
    C,F--128522219(+) AAAGAC/AAGGGA 1 -- ds50014Minor allele frequency- A:0.38WA CSA 123

    HapMap Linkage Disequilibrium report for HS6ST1 (128994290 - 129076171 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for HS6ST1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv272146CNV Insertion20981092
    nsv875034CNV Loss21882294
    nsv834368CNV Loss17160897
    dgv4303n71CNV Loss21882294
    nsv516672CNV Loss19592680
    dgv4304n71CNV Loss21882294
    dgv4302n71CNV Loss21882294
    nsv459263CNV Loss19166990
    nsv821708CNV Gain20364138

    Human Gene Mutation Database (HGMD): HS6ST1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HS6ST1
    DNA2.0 Custom Variant and Variant Library Synthesis for HS6ST1

    (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: 604846   
    OMIM disorders: 614880  
    UniProtKB/Swiss-Prot: H6ST1_HUMAN, O60243
  • Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880]: A disorder characterized by
    absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating
    gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it
    is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss.
    Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is
    due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of
    gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic
    hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been
    termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). Note=The disease is caused by mutations
    affecting distinct genetic loci, including the gene represented in this entry

  • 3 diseases for HS6ST1:    
    About MalaCards
    hypogonadotropic hypogonadism 15 with or without anosmia    hypogonadotropic hypogonadism 17 with or without anosmia    hypogonadotropic hypogonadism 8 with or without anosmia


    Find genes that share disorders with HS6ST1           About GenesLikeMe

    Genetic Association Database (GAD): HS6ST1
    Human Genome Epidemiology (HuGE) Navigator: HS6ST1 (1 document)

    Export disorders for HS6ST1 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 HS6ST1 gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with HS6ST1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization and expression of heparan-sulfate 6- sulfotransferase. (PubMed id 9535912)1, 2, 3, 9 Habuchi H.... Kimata K. (J. Biol. Chem. 1998)
    2. Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. (PubMed id 21700882)1, 2 Tornberg J.... Bulow H.E. (Proc. Natl. Acad. Sci. U.S.A. 2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. 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)
    5. 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)
    6. Biosynthesis of heparan sulphate with diverse structures and functions: two alternatively spliced forms of human heparan sulphate 6-O-sulphotransferase-2 having different expression patterns and properties. (PubMed id 12492399)1, 9 Habuchi H.... Kimata K. (Biochem. J. 2003)
    7. Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. (PubMed id 23362303)1 Wu J.H....Mozaffarian D. (Circ Cardiovasc Genet 2013)
    8. Framingham Heart Study genome-wide association: results for pulmonary function measures. (PubMed id 17903307)4 Wilk J.B....O'Connor G.T. (BMC Med. Genet. 2007)
    9. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (Genome Res. 2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (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: 9394 HGNC: 5201 AceView: HS6ST1 Ensembl:ENSG00000136720 euGenes: HUgn9394
    ECgene: HS6ST1 Kegg: 9394 H-InvDB: HS6ST1

    (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 HS6ST1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HS6ST1 gene:
    Search GeneIP for patents involving HS6ST1

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



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