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

    Gene ID: 9653, updated on 5-May-2024

    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; AllianceGenome:HGNC:5193
    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
    NFSRA; 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
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    1p22.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (86914635..87109982)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (86755193..86952707)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (87380318..87575665)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1281 Neighboring gene selenoprotein F Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:87379106-87379720 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:87379721-87380335 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:87389203-87389381 Neighboring gene uncharacterized LOC124904211 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:87482946-87483115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1285 Neighboring gene ubiquitin like modifier activating enzyme 2 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1286 Neighboring gene ubiquitin like modifier activating enzyme 2 pseudogene Neighboring gene long intergenic non-protein coding RNA 1140 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:87612561-87613060 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:87614396-87615060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:87616858-87617456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:87617457-87618055 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:87666183-87666684 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:87666685-87667184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1287 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1043 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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ11317, KIAA0448, MGC131986

    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)

    NEW Try the new Transcript table

    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/TrEMBL
      A0A8I5KR52
      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
      D3DT22, O75036, Q32NB5, Q7LGA3, Q8TAC5, Q9H441, Q9NUJ9
      UniProtKB/TrEMBL
      B3KN15
      Related
      ENSP00000359581.4, ENST00000370550.10
      Conserved Domains (1) summary
      pfam03567
      Location:71326
      Sulfotransfer_2; Sulfotransferase family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      86755193..86952707
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)