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

    Gene ID: 9653, updated on 2-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See HS2ST1 in Genome Data Viewer
    Location:
    1p22.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (86914635..87109982)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (86755193..86952707)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities. Schneeberger PE, et al. Am J Hum Genet, 2020 Dec 3. PMID 33159882, Free PMC Article
    2. Essential roles of carbohydrate signals in development, immune response and tissue functions, as revealed by gene targeting. Muramatsu T. J Biochem, 2000 Feb. PMID 10731680
    3. HS2ST1-dependent signaling pathways determine breast cancer cell viability, matrix interactions, and invasive behavior. Vijaya Kumar A, et al. Cancer Sci, 2020 Aug. PMID 32573871, Free PMC Article
    4. Expression of heparan sulphate L-iduronyl 2-O-sulphotransferase in human kidney 293 cells results in increased D-glucuronyl 2-O-sulphation. Rong J, et al. Biochem J, 2000 Mar 1. PMID 10677367, Free PMC Article
    5. C5-epimerase and 2-O-sulfotransferase associate in vitro to generate contiguous epimerized and 2-O-sulfated heparan sulfate domains. Préchoux A, et al. ACS Chem Biol, 2015 Apr 17. PMID 25594747

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.
      Title: Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.
    2. HS2ST1-dependent signaling pathways determine breast cancer cell viability, matrix interactions, and invasive behavior.
      Title: HS2ST1-dependent signaling pathways determine breast cancer cell viability, matrix interactions, and invasive behavior.
    3. C5-epimerase and 2-O-sulfotransferase in association generate extended domains of consecutive GlcNS-IdoA2S Sequence.
      Title: C5-epimerase and 2-O-sulfotransferase associate in vitro to generate contiguous epimerized and 2-O-sulfated heparan sulfate domains.
    4. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    6. analysis of differences and similarities various residues play in the biological roles of the HS-2OST and CS-2OST enzymes
      Title: Mutational study of heparan sulfate 2-O-sulfotransferase and chondroitin sulfate 2-O-sulfotransferase.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Neurofacioskeletal syndrome with or without renal agenesis
    MedGen: C5543070 OMIM: 619194 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11317, KIAA0448, MGC131986

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables heparan sulfate 2-O-sulfotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables heparan sulfate 2-O-sulfotransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heparan sulfate proteoglycan biosynthetic process, enzymatic modification IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in heparan sulfate proteoglycan biosynthetic process, enzymatic modification TAS
    Traceable Author Statement
    more info
    		  
    involved_in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in heparin metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ureteric bud formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_001134492.2 → NP_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:71 → 224
      Sulfotransfer_2; Sulfotransferase family

    2. NM_012262.4 → NP_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:71 → 326
      Sulfotransfer_2; Sulfotransferase family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7LGA3.1 GenPept UniProtKB/Swiss-Prot:Q7LGA3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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