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    HS2ST1 heparan sulfate 2-O-sulfotransferase 1 [ Homo sapiens (human) ]

    Gene ID: 9653, updated on 17-Jun-2019

    Summary

    Official Symbol
    HS2ST1provided by HGNC
    Official Full Name
    heparan sulfate 2-O-sulfotransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:5193
    See related
    Ensembl:ENSG00000153936 MIM:604844
    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
    dJ604K5.2
    Summary
    Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Aug 2008]
    Expression
    Ubiquitous expression in adrenal (RPKM 13.4), thyroid (RPKM 7.8) and 25 other tissues See more
    Orthologs

    Genomic context

    See HS2ST1 in Genome Data Viewer
    Location:
    1p22.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (86914635..87109982)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (87380335..87575681)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378831 Neighboring gene selenoprotein F Neighboring gene ubiquitin like modifier activating enzyme 2 pseudogene Neighboring gene ubiquitin like modifier activating enzyme 2 pseudogene Neighboring gene long intergenic non-protein coding RNA 1140 Neighboring gene long intergenic non-protein coding RNA 2801

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ11317, KIAA0448, MGC131986

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    heparan sulfate 2-O-sulfotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    heparan sulfate 2-O-sulfotransferase activity TAS
    Traceable Author Statement
    more info
     
    sulfotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane HDA PubMed 

    General protein information

    Preferred Names
    heparan sulfate 2-O-sulfotransferase 1
    Names
    2-O-sulfotransferase
    2OST
    NP_001127964.1
    NP_036394.1

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001134492.2NP_001127964.1  heparan sulfate 2-O-sulfotransferase 1 isoform 2

      See identical proteins and their annotated locations for NP_001127964.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses a different splice site in the 3' coding region and lacks some coding region segments, compared to variant 1. The resulting protein (isoform 2) has a shorter C-terminus when it is compared to isoform 1.
      Source sequence(s)
      AC093155, AL121989, BC025384, BC108735
      Consensus CDS
      CCDS44171.1
      UniProtKB/Swiss-Prot
      Q7LGA3
      Related
      ENSP00000359582.3, ENST00000370551.8
      Conserved Domains (1) summary
      pfam03567
      Location:71224
      Sulfotransfer_2; Sulfotransferase family
    2. NM_012262.4NP_036394.1  heparan sulfate 2-O-sulfotransferase 1 isoform 1

      See identical proteins and their annotated locations for NP_036394.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
      Source sequence(s)
      AB007917, AC093155, AL121989, BC025990, BF431947
      Consensus CDS
      CCDS711.1
      UniProtKB/Swiss-Prot
      Q7LGA3
      Related
      ENSP00000359581.4, ENST00000370550.10
      Conserved Domains (1) summary
      pfam03567
      Location:71326
      Sulfotransfer_2; Sulfotransferase family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      86914635..87109982
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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