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    HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 [ Homo sapiens (human) ]

    Gene ID: 64711, updated on 2-Nov-2024

    Summary

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    Official Symbol
    HS3ST6provided by HGNC
    Official Full Name
    heparan sulfate-glucosamine 3-sulfotransferase 6provided by HGNC
    Primary source
    HGNC:HGNC:14178
    See related
    Ensembl:ENSG00000162040 MIM:619210; AllianceGenome:HGNC:14178
    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
    HAE8; 3OST6; HS3ST5; 3-OST-6
    Summary
    Predicted to enable [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity. Predicted to be involved in heparan sulfate proteoglycan biosynthetic process, enzymatic modification. Predicted to act upstream of or within blastocyst hatching. Predicted to be located in Golgi membrane. Implicated in hereditary angioedema. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in skin (RPKM 2.3), placenta (RPKM 0.2) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See HS3ST6 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1911475..1920940, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1930559..1940903, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1961476..1968416, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 254 Neighboring gene long intergenic non-protein coding RNA 2124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1945999-1946500 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1961835-1962392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1968509-1969070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1969071-1969634 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1969635-1970196 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1970197-1970760 Neighboring gene Sharpr-MPRA regulatory region 1858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1991100-1991989 Neighboring gene uncharacterized LOC124903625 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7010 Neighboring gene methionine sulfoxide reductase B1 Neighboring gene ribosomal protein L3 like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2003405-2004394

    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. Biosynthesis of 3-O-sulfated heparan sulfate: unique substrate specificity of heparan sulfate 3-O-sulfotransferase isoform 5. Chen J, et al. Glycobiology, 2003 Nov. PMID 12907690
    2. Characterization of heparan sulphate 3-O-sulphotransferase isoform 6 and its role in assisting the entry of herpes simplex virus type 1. Xu D, et al. Biochem J, 2005 Jan 15. PMID 15303968, Free PMC Article
    3. 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
    4. 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
    5. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. Daniels RJ, et al. Hum Mol Genet, 2001 Feb 15. PMID 11157797

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. generates both an antithrombin-binding site and an entry receptor for herpes simplex virus, type 1
      Title: Heparan sulfate 3-O-sulfotransferase isoform 5 generates both an antithrombin-binding site and an entry receptor for herpes simplex virus, type 1.
    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
    Angioedema, hereditary, 8
    MedGen: C5543528 OMIM: 619367 GeneReviews: Not available
    		Compare labs

    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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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in blastocyst hatching IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heparan sulfate proteoglycan biosynthetic process, enzymatic modification TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    heparan sulfate glucosamine 3-O-sulfotransferase 6
    Names
    heparan sulfate (glucosamine) 3-O-sulfotransferase 5
    heparan sulfate (glucosamine) 3-O-sulfotransferase 6
    heparan sulfate D-glucosaminyl 3-O-sulfotransferase 6
    heparan sulphate D-glucosaminyl 3-O-sulfotransferase-3B like
    NP_001009606.3
    XP_011520910.1
    XP_011520911.1
    XP_047290443.1
    XP_054169666.1
    XP_054169667.1
    XP_054169668.1
    XP_054185164.1
    XP_054185165.1
    XP_054185166.1

    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_001009606.4 → NP_001009606.3  heparan sulfate glucosamine 3-O-sulfotransferase 6

      See identical proteins and their annotated locations for NP_001009606.3

      Status: VALIDATED

      Source sequence(s)
      AL031723, CK300523, DY654407
      Consensus CDS
      CCDS45381.2
      UniProtKB/Swiss-Prot
      Q96QI5, Q96RX7
      Related
      ENSP00000416741.3, ENST00000454677.3
      Conserved Domains (1) summary
      pfam00685
      Location:91 → 326
      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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      1911475..1920940 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522608.3 → XP_011520910.1  heparan sulfate glucosamine 3-O-sulfotransferase 6 isoform X1

      See identical proteins and their annotated locations for XP_011520910.1

      Conserved Domains (1) summary
      pfam00685
      Location:26 → 201
      Sulfotransfer_1; Sulfotransferase domain

    2. XM_047434487.1 → XP_047290443.1  heparan sulfate glucosamine 3-O-sulfotransferase 6 isoform X2

    3. XM_011522609.2 → XP_011520911.1  heparan sulfate glucosamine 3-O-sulfotransferase 6 isoform X2

      See identical proteins and their annotated locations for XP_011520911.1

      Conserved Domains (1) summary
      pfam00685
      Location:11 → 186
      Sulfotransfer_1; Sulfotransferase domain

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187609.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      41605..51070 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329189.1 → XP_054185164.1  heparan sulfate glucosamine 3-O-sulfotransferase 6 isoform X1

    2. XM_054329190.1 → XP_054185165.1  heparan sulfate glucosamine 3-O-sulfotransferase 6 isoform X2

    3. XM_054329191.1 → XP_054185166.1  heparan sulfate glucosamine 3-O-sulfotransferase 6 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      1930559..1940903 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313691.1 → XP_054169666.1  heparan sulfate glucosamine 3-O-sulfotransferase 6 isoform X1

    2. XM_054313692.1 → XP_054169667.1  heparan sulfate glucosamine 3-O-sulfotransferase 6 isoform X2

    3. XM_054313693.1 → XP_054169668.1  heparan sulfate glucosamine 3-O-sulfotransferase 6 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96QI5.2 GenPept UniProtKB/Swiss-Prot:Q96QI5

    Gene LinkOut

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