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    HS3ST5 heparan sulfate-glucosamine 3-sulfotransferase 5 [ Homo sapiens (human) ]

    Gene ID: 222537, updated on 27-Nov-2024

    Summary

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    Official Symbol
    HS3ST5provided by HGNC
    Official Full Name
    heparan sulfate-glucosamine 3-sulfotransferase 5provided by HGNC
    Primary source
    HGNC:HGNC:19419
    See related
    Ensembl:ENSG00000249853 MIM:609407; AllianceGenome:HGNC:19419
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    3OST5; 3-OST-5; HS3OST5; NBLA04021
    Summary
    HS3ST5 belongs to a group of heparan sulfate 3-O-sulfotransferases (EC 2.8.2.23) that transfer sulfate from 3-prime-phosphoadenosine 5-prime phosphosulfate (PAPS) to heparan sulfate and heparin (Mochizuki et al., 2003 [PubMed 12740361]).[supplied by OMIM, Mar 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See HS3ST5 in Genome Data Viewer
    Location:
    6q21-q22.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (114055596..114343023, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (115238715..115526173, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (114376760..114664187, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901384 Neighboring gene HDAC2 and HS3ST5 antisense RNA 2 Neighboring gene Sharpr-MPRA regulatory region 9060 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:114317472-114318671 Neighboring gene NUDT19 pseudogene 3 Neighboring gene ribosomal protein SA pseudogene 43 Neighboring gene uncharacterized LOC124901383 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:114524453-114524954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:114524955-114525454 Neighboring gene RNA, 5S ribosomal pseudogene 213 Neighboring gene NANOG hESC enhancer GRCh37_chr6:114603304-114603805 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:114640738-114641477 Neighboring gene uncharacterized LOC107986638 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:114683371-114683962 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:114683963-114684552 Neighboring gene DnaJ heat shock protein family (Hsp40) member A1 pseudogene 4 Neighboring gene Sharpr-MPRA regulatory region 3090 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:114742086-114742751 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:114743417-114744081 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:114745558-114746227 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:114746228-114746898 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:114746899-114747567 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:114747568-114748238 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:114748909-114749578 Neighboring gene lncRNA periodontal mesenchymal stem cell osteogenesis related

    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
    • 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. Characterization of the structure of antithrombin-binding heparan sulfate generated by heparan sulfate 3-O-sulfotransferase 5. Chen J, et al. Biochim Biophys Acta, 2005 Sep 15. PMID 16099108
    2. The biosynthesis of anticoagulant heparan sulfate by the heparan sulfate 3-O-sulfotransferase isoform 5. Duncan MB, et al. Biochim Biophys Acta, 2004 Mar 17. PMID 15026143
    3. Genome-wide association analysis with gray matter volume as a quantitative phenotype in first-episode treatment-naïve patients with schizophrenia. Wang Q, et al. PLoS One, 2013. PMID 24086445, Free PMC Article
    4. Characterization of a heparan sulfate 3-O-sulfotransferase-5, an enzyme synthesizing a tetrasulfated disaccharide. Mochizuki H, et al. J Biol Chem, 2003 Jul 18. PMID 12740361
    5. Heparan sulfate 3-O-sulfotransferase isoform 5 generates both an antithrombin-binding site and an entry receptor for herpes simplex virus, type 1. Xia G, et al. J Biol Chem, 2002 Oct 4. PMID 12138164

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
    2. Recombinant 3-OST-5 only exhibited sulfotransferase activity toward heparan sulfate and heparin. 3-OST-5 was highly expressed in fetal brain, followed by adult brain and spinal cord, and at very low or undetectable levels in other tissues.
      Title: Characterization of a heparan sulfate 3-O-sulfotransferase-5, an enzyme synthesizing a tetrasulfated disaccharide.
    3. Results demonstrate that the human 3-O-sulfotransferase isoform 5 gene is capable of synthesizing anticoagulant heparan sulfate (HS) in CHO cells and may contribute to the biosynthesis of HS in humans.
      Title: The biosynthesis of anticoagulant heparan sulfate by the heparan sulfate 3-O-sulfotransferase isoform 5.
    4. Structural analysis of 3-OST-5 HS(act) revealed that the antithrombin-binding site of 3-OST-5 HS(act) is located within a domain clustered with N-sulfated glucosamine units.
      Title: Characterization of the structure of antithrombin-binding heparan sulfate generated by heparan sulfate 3-O-sulfotransferase 5.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association analysis with gray matter volume as a quantitative phenotype in first-episode treatment-naïve patients with schizophrenia.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-phosphoadenosine 5'-phosphosulfate binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in heparan sulfate proteoglycan biosynthetic process, enzymatic modification IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in heparan sulfate proteoglycan biosynthetic process, enzymatic modification TAS
    Traceable Author Statement
    more info
    		  
    involved_in negative regulation of coagulation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein sulfation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of viral entry into host cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    heparan sulfate glucosamine 3-O-sulfotransferase 5
    Names
    h3-OST-5
    heparan sulfate (glucosamine) 3-O-sulfotransferase 5
    heparan sulfate 3-O-sulfotransferase 5
    heparan sulfate 3-OST-5
    heparan sulfate D-glucosaminyl 3-O-sulfotransferase 5
    NP_001373968.1
    NP_001373969.1
    NP_001373970.1
    NP_001373971.1
    NP_001373972.1
    NP_001373973.1
    NP_001373974.1
    NP_001373975.1
    NP_001373976.1
    NP_705840.2
    XP_011533890.1
    XP_016865960.1
    XP_054210617.1
    XP_054210618.1

    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_001387039.1 → NP_001373968.1  heparan sulfate glucosamine 3-O-sulfotransferase 5

      Status: VALIDATED

      Source sequence(s)
      AL136446, AL355498, AL500524
      Consensus CDS
      CCDS34517.1
      UniProtKB/Swiss-Prot
      A8K1J2, Q52LI2, Q8IZT8, Q8N285
      Conserved Domains (1) summary
      pfam00685
      Location:90 → 330
      Sulfotransfer_1; Sulfotransferase domain

    2. NM_001387040.1 → NP_001373969.1  heparan sulfate glucosamine 3-O-sulfotransferase 5

      Status: VALIDATED

      Source sequence(s)
      AL136446, AL355498
      Consensus CDS
      CCDS34517.1
      UniProtKB/Swiss-Prot
      A8K1J2, Q52LI2, Q8IZT8, Q8N285
      Conserved Domains (1) summary
      pfam00685
      Location:90 → 330
      Sulfotransfer_1; Sulfotransferase domain

    3. NM_001387041.1 → NP_001373970.1  heparan sulfate glucosamine 3-O-sulfotransferase 5

      Status: VALIDATED

      Source sequence(s)
      AL136446, AL355498, AL500524
      Consensus CDS
      CCDS34517.1
      UniProtKB/Swiss-Prot
      A8K1J2, Q52LI2, Q8IZT8, Q8N285
      Conserved Domains (1) summary
      pfam00685
      Location:90 → 330
      Sulfotransfer_1; Sulfotransferase domain

    4. NM_001387042.1 → NP_001373971.1  heparan sulfate glucosamine 3-O-sulfotransferase 5

      Status: VALIDATED

      Source sequence(s)
      AL136446, AL355498, AL500524
      Consensus CDS
      CCDS34517.1
      UniProtKB/Swiss-Prot
      A8K1J2, Q52LI2, Q8IZT8, Q8N285
      Conserved Domains (1) summary
      pfam00685
      Location:90 → 330
      Sulfotransfer_1; Sulfotransferase domain

    5. NM_001387043.1 → NP_001373972.1  heparan sulfate glucosamine 3-O-sulfotransferase 5

      Status: VALIDATED

      Source sequence(s)
      AL136446, AL355498, AL500524
      Consensus CDS
      CCDS34517.1
      UniProtKB/Swiss-Prot
      A8K1J2, Q52LI2, Q8IZT8, Q8N285
      Conserved Domains (1) summary
      pfam00685
      Location:90 → 330
      Sulfotransfer_1; Sulfotransferase domain

    6. NM_001387044.1 → NP_001373973.1  heparan sulfate glucosamine 3-O-sulfotransferase 5

      Status: VALIDATED

      Source sequence(s)
      AL136446, AL355498, AL500524
      Consensus CDS
      CCDS34517.1
      UniProtKB/Swiss-Prot
      A8K1J2, Q52LI2, Q8IZT8, Q8N285
      Conserved Domains (1) summary
      pfam00685
      Location:90 → 330
      Sulfotransfer_1; Sulfotransferase domain

    7. NM_001387045.1 → NP_001373974.1  heparan sulfate glucosamine 3-O-sulfotransferase 5

      Status: VALIDATED

      Source sequence(s)
      AL136446, AL355498, AL500524
      Consensus CDS
      CCDS34517.1
      UniProtKB/Swiss-Prot
      A8K1J2, Q52LI2, Q8IZT8, Q8N285
      Conserved Domains (1) summary
      pfam00685
      Location:90 → 330
      Sulfotransfer_1; Sulfotransferase domain

    8. NM_001387046.1 → NP_001373975.1  heparan sulfate glucosamine 3-O-sulfotransferase 5

      Status: VALIDATED

      Source sequence(s)
      AL136446, AL355498, AL500524
      Consensus CDS
      CCDS34517.1
      UniProtKB/Swiss-Prot
      A8K1J2, Q52LI2, Q8IZT8, Q8N285
      Conserved Domains (1) summary
      pfam00685
      Location:90 → 330
      Sulfotransfer_1; Sulfotransferase domain

    9. NM_001387047.1 → NP_001373976.1  heparan sulfate glucosamine 3-O-sulfotransferase 5

      Status: VALIDATED

      Source sequence(s)
      AL136446, AL355498, AL500524
      Consensus CDS
      CCDS34517.1
      UniProtKB/Swiss-Prot
      A8K1J2, Q52LI2, Q8IZT8, Q8N285
      Conserved Domains (1) summary
      pfam00685
      Location:90 → 330
      Sulfotransfer_1; Sulfotransferase domain

    10. NM_153612.4 → NP_705840.2  heparan sulfate glucosamine 3-O-sulfotransferase 5

      See identical proteins and their annotated locations for NP_705840.2

      Status: VALIDATED

      Source sequence(s)
      AL136446, AL355498, AL500524
      Consensus CDS
      CCDS34517.1
      UniProtKB/Swiss-Prot
      A8K1J2, Q52LI2, Q8IZT8, Q8N285
      Related
      ENSP00000427888.1, ENST00000312719.10
      Conserved Domains (1) summary
      pfam00685
      Location:90 → 330
      Sulfotransfer_1; Sulfotransferase domain

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      114055596..114343023 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010471.2 → XP_016865960.1  heparan sulfate glucosamine 3-O-sulfotransferase 5 isoform X1

      UniProtKB/Swiss-Prot
      A8K1J2, Q52LI2, Q8IZT8, Q8N285
      Conserved Domains (1) summary
      pfam00685
      Location:90 → 330
      Sulfotransfer_1; Sulfotransferase domain

    2. XM_011535588.3 → XP_011533890.1  heparan sulfate glucosamine 3-O-sulfotransferase 5 isoform X1

      See identical proteins and their annotated locations for XP_011533890.1

      UniProtKB/Swiss-Prot
      A8K1J2, Q52LI2, Q8IZT8, Q8N285
      Conserved Domains (1) summary
      pfam00685
      Location:90 → 330
      Sulfotransfer_1; Sulfotransferase domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      115238715..115526173 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354642.1 → XP_054210617.1  heparan sulfate glucosamine 3-O-sulfotransferase 5 isoform X1

      UniProtKB/Swiss-Prot
      A8K1J2, Q52LI2, Q8IZT8, Q8N285

    2. XM_054354643.1 → XP_054210618.1  heparan sulfate glucosamine 3-O-sulfotransferase 5 isoform X1

      UniProtKB/Swiss-Prot
      A8K1J2, Q52LI2, Q8IZT8, Q8N285
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZT8.1 GenPept UniProtKB/Swiss-Prot:Q8IZT8

    Gene LinkOut

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

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