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    HS6ST1 heparan sulfate 6-O-sulfotransferase 1 [ Homo sapiens (human) ]

    Gene ID: 9394, updated on 25-May-2017
    Official Symbol
    HS6ST1provided by HGNC
    Official Full Name
    heparan sulfate 6-O-sulfotransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:5201
    See related
    Ensembl:ENSG00000136720 MIM:604846; Vega:OTTHUMG00000153542
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HH15; HS6ST
    Summary
    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]
    Orthologs
    Location:
    2q14.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (128265480..128318597, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (129023054..129076171, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L14 pseudogene Neighboring gene ribosomal protein L21 pseudogene 34 Neighboring gene uncharacterized LOC105373610 Neighboring gene uncharacterized LOC105373611 Neighboring gene RNA, 5S ribosomal pseudogene 103

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Hypogonadotropic hypogonadism 15 with or without anosmia
    MedGen: C3553977 OMIM: 614880 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    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) consortiu
    NHGRI GWA Catalog
    • Glycosaminoglycan biosynthesis - heparan sulfate / heparin, organism-specific biosystem (from KEGG)
      Glycosaminoglycan biosynthesis - heparan sulfate / heparin, organism-specific biosystemHeparan sulfate (HS) and heparin (Hep) are glycosaminoglycans with repeating disaccharide units that consist of alternating residues of alpha-D-glucosamine (GlcN) and uronic acid, the latter being ei...
    • Glycosaminoglycan biosynthesis - heparan sulfate / heparin, conserved biosystem (from KEGG)
      Glycosaminoglycan biosynthesis - heparan sulfate / heparin, conserved biosystemHeparan sulfate (HS) and heparin (Hep) are glycosaminoglycans with repeating disaccharide units that consist of alternating residues of alpha-D-glucosamine (GlcN) and uronic acid, the latter being ei...
    • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
      Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
    • HS-GAG biosynthesis, organism-specific biosystem (from REACTOME)
      HS-GAG biosynthesis, organism-specific biosystemHeparan sulfate (HS) and heparin (sometimes collectively called HS-GAG) consist of the disaccharide unit GlcNAc-GlcA (N-acetylglucosamine-glucuronic acid) connected by a beta1,4 linkage. Heparin is e...
    • Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystem (from REACTOME)
      Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystemThe acronym HS-GAG is used to describe both heparin and heparan sulfate. HS-GAG is a member of the glycosaminoglycan family and consists of a variably sulfated repeating disaccharide unit, the most ...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
      Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
    • Metapathway biotransformation, organism-specific biosystem (from WikiPathways)
      Metapathway biotransformation, organism-specific biosystem
      Metapathway biotransformation
    • heparan sulfate biosynthesis, organism-specific biosystem (from BIOCYC)
      heparan sulfate biosynthesis, organism-specific biosystem
      heparan sulfate biosynthesis
    • heparan sulfate biosynthesis, conserved biosystem (from BIOCYC)
      heparan sulfate biosynthesis, conserved biosystemBackground |FRAME: Heparan-Sulfate "Heparan sulfate"| is a linear polysaccharide found in all animal tissues. It occurs as a proteoglycan in which two or three heparan sulfate chains are attached to...
    • heparan sulfate biosynthesis (late stages), organism-specific biosystem (from BIOCYC)
      heparan sulfate biosynthesis (late stages), organism-specific biosystemBackground : Heparan-Sulfate "Heparan sulfate" is a linear polysaccharide found in all animal tissues. It occurs as a proteoglycan in which two or three heparan sulfate chains are attached to cell s...
    • heparan sulfate biosynthesis (late stages), conserved biosystem (from BIOCYC)
      heparan sulfate biosynthesis (late stages), conserved biosystemBackground |FRAME: Heparan-Sulfate "Heparan sulfate"| is a linear polysaccharide found in all animal tissues. It occurs as a proteoglycan in which two or three heparan sulfate chains are attached to...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ25392, MGC116899, MGC116901, DKFZp547H098

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    heparan sulfate 6-O-sulfotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    heparan sulfate 6-O-sulfotransferase activity TAS
    Traceable Author Statement
    more info
     
    sulfotransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    glycosaminoglycan biosynthetic process TAS
    Traceable Author Statement
    more info
     
    heparan sulfate proteoglycan biosynthetic process, enzymatic modification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    labyrinthine layer blood vessel development IEA
    Inferred from Electronic Annotation
    more info
     
    lung alveolus development IEA
    Inferred from Electronic Annotation
    more info
     
    neuron development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    heparan-sulfate 6-O-sulfotransferase 1
    Names
    HS6ST-1
    heparan-sulfate 6-sulfotransferase
    NP_004798.3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032966.1 RefSeqGene

      Range
      5001..58118
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004807.2NP_004798.3  heparan-sulfate 6-O-sulfotransferase 1

      See identical proteins and their annotated locations for NP_004798.3

      Status: REVIEWED

      Source sequence(s)
      BC001196, BC063521, BP219645, CV569969, DR005030
      Consensus CDS
      CCDS42748.1
      UniProtKB/Swiss-Prot
      O60243
      Related
      ENSP00000259241.6, OTTHUMP00000204080, ENST00000259241.6, OTTHUMT00000331572
      Conserved Domains (1) summary
      pfam03567
      Location:85350
      Sulfotransfer_2; Sulfotransferase family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      128265480..128318597 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      129027954..129081083 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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