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    HS3ST3A1 heparan sulfate-glucosamine 3-sulfotransferase 3A1 [ Homo sapiens (human) ]

    Gene ID: 9955, updated on 27-Nov-2024

    Summary

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    Official Symbol
    HS3ST3A1provided by HGNC
    Official Full Name
    heparan sulfate-glucosamine 3-sulfotransferase 3A1provided by HGNC
    Primary source
    HGNC:HGNC:5196
    See related
    Ensembl:ENSG00000153976 MIM:604057; AllianceGenome:HGNC:5196
    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
    3OST3A1; 3-OST-3A
    Summary
    Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. The sulfotransferase domain of this enzyme is highly similar to the same domain of heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3B1, and these two enzymes sulfate an identical disaccharide. This gene is widely expressed, with the most abundant expression in liver and placenta. [provided by RefSeq, Dec 2014]
    Expression
    Broad expression in spleen (RPKM 1.4), ovary (RPKM 1.0) and 20 other tissues See more
    Orthologs
    all
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    Genomic context

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    See HS3ST3A1 in Genome Data Viewer
    Location:
    17p12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (13494032..13601929, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (13401203..13509113, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (13397349..13505246, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904097 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:13250372-13251571 Neighboring gene uncharacterized LOC105371543 Neighboring gene NANOG hESC enhancer GRCh37_chr17:13266032-13266533 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:13459681-13460196 Neighboring gene microRNA 548h-3 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:13478826-13479326 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:13479327-13479827 Neighboring gene MPRA-validated peak2737 silencer Neighboring gene MPRA-validated peak2739 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:13504200-13504820 Neighboring gene Sharpr-MPRA regulatory region 12003 Neighboring gene uncharacterized LOC105371544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:13536554-13537054 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:13537055-13537555 Neighboring gene NANOG hESC enhancer GRCh37_chr17:13543773-13544290 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:13545849-13546650 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:13546651-13547452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:13574799-13575300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:13575301-13575800 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:13654264-13654764 Neighboring gene MPRA-validated peak2744 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47013 Neighboring gene uncharacterized LOC107985014

    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. Placental expression of heparan sulfate 3-O-sulfotransferase-3A1 in normotensive and pre-eclamptic pregnancies. Amraoui F, et al. Placenta, 2015 Nov. PMID 26410339
    2. Establishment of a human lung cancer cell line with high metastatic potential to multiple organs: gene expression associated with metastatic potential in human lung cancer. Nakano T, et al. Oncol Rep, 2012 Nov. PMID 22922681
    3. Heparan sulfate D-glucosaminyl 3-O-sulfotransferase-3A sulfates N-unsubstituted glucosamine residues. Liu J, et al. J Biol Chem, 1999 Dec 31. PMID 10608887
    4. Laboratory validation of formal concept analysis of the methylation status of microarray-detected genes in primary breast cancer. Kassim SK, et al. Tumour Biol, 2017 Jun. PMID 28618938
    5. The heparan sulfate sulfotransferase 3-OST3A (HS3ST3A) is a novel tumor regulator and a prognostic marker in breast cancer. Mao X, et al. Oncogene, 2016 Sep 22. PMID 27041583

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Our findings define 3-OST3A as a novel regulator of breast cancer pathogenicity, displaying tumor-suppressive or oncogenic activities in a cell- and tumor-dependent context, and demonstrate the clinical value of the HS-O-sulfotransferase 3-OST3A as a prognostic marker in HER2+ patients.
      Title: The heparan sulfate sulfotransferase 3-OST3A (HS3ST3A) is a novel tumor regulator and a prognostic marker in breast cancer.
    2. Detection of MUC1 and HS3ST2 promoter methylation status appears to be useful molecular markers for assessing the progressive state of the disease and could be helpful in discriminating breast cancer molecular subtypes. These results validate the methylation-based microarray analysis, thus trust their output in the future.
      Title: Laboratory validation of formal concept analysis of the methylation status of microarray-detected genes in primary breast cancer.
    3. decreased in pre-eclamptic placental tissue
      Title: Placental expression of heparan sulfate 3-O-sulfotransferase-3A1 in normotensive and pre-eclamptic pregnancies.
    4. Genetic variants of HS3ST3A1 and HS3ST3B1 are associated with Plasmodium falciparum parasitaemia.
      Title: Genetic variations in genes involved in heparan sulphate biosynthesis are associated with Plasmodium falciparum parasitaemia: a familial study in Burkina Faso.
    5. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: A whole genome association study of mother-to-child transmission of HIV in Malawi.
    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
    Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.
    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 [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 [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sulfotransferase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in branching involved in ureteric bud morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glycosaminoglycan biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    heparan sulfate glucosamine 3-O-sulfotransferase 3A1
    Names
    heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1
    heparan sulfate 3-O-sulfotransferase 3A1
    heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1
    heparin-glucosamine 3-O-sulfotransferase
    NP_006033.1
    XP_011522416.1
    XP_016880969.1
    XP_047293184.1
    XP_054174073.1
    XP_054174074.1

    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_006042.3 → NP_006033.1  heparan sulfate glucosamine 3-O-sulfotransferase 3A1

      See identical proteins and their annotated locations for NP_006033.1

      Status: REVIEWED

      Source sequence(s)
      AA746890, AC005375, AC005411, AF105376, AK292047, AY358838, BU161930, BU619124
      Consensus CDS
      CCDS11165.1
      UniProtKB/Swiss-Prot
      A8K7N2, Q9Y663
      Related
      ENSP00000284110.1, ENST00000284110.2
      Conserved Domains (1) summary
      pfam00685
      Location:152 → 389
      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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      13494032..13601929 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524114.4 → XP_011522416.1  heparan sulfate glucosamine 3-O-sulfotransferase 3A1 isoform X2

      UniProtKB/TrEMBL
      J3KSX5
      Conserved Domains (1) summary
      pfam00685
      Location:30 → 190
      Sulfotransfer_1; Sulfotransferase domain

    2. XM_047437228.1 → XP_047293184.1  heparan sulfate glucosamine 3-O-sulfotransferase 3A1 isoform X2

    3. XM_017025480.3 → XP_016880969.1  heparan sulfate glucosamine 3-O-sulfotransferase 3A1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      13401203..13509113 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318099.1 → XP_054174074.1  heparan sulfate glucosamine 3-O-sulfotransferase 3A1 isoform X2

    2. XM_054318098.1 → XP_054174073.1  heparan sulfate glucosamine 3-O-sulfotransferase 3A1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y663.1 GenPept UniProtKB/Swiss-Prot:Q9Y663

    Gene LinkOut

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