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    NDST1 N-deacetylase and N-sulfotransferase 1 [ Homo sapiens (human) ]

    Gene ID: 3340, updated on 2-Nov-2024

    Summary

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    Official Symbol
    NDST1provided by HGNC
    Official Full Name
    N-deacetylase and N-sulfotransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:7680
    See related
    Ensembl:ENSG00000070614 MIM:600853; AllianceGenome:HGNC:7680
    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
    HSST; NST1; MRT46
    Summary
    This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. The encoded protein catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate to nitrogen of glucosamine in heparan sulfate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
    Expression
    Ubiquitous expression in spleen (RPKM 12.3), lung (RPKM 12.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NDST1 in Genome Data Viewer
    Location:
    5q33.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (150497779..150558211)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (151034321..151094757)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (149877341..149937773)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak5537 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149828819-149829757 Neighboring gene MPRA-validated peak5538 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23418 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149840208-149840834 Neighboring gene ribosomal protein S14 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149843737-149844462 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82371 Neighboring gene NDST1 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:149865131-149865786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23420 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149872150-149872771 Neighboring gene Sharpr-MPRA regulatory region 285 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149881034-149881594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149881595-149882153 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149889677-149890250 Neighboring gene Sharpr-MPRA regulatory region 361 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149891552-149892205 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149902065-149902942 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149905099-149905839 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149916701-149917473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149919751-149920250 Neighboring gene Sharpr-MPRA regulatory region 2793 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16512 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149926039-149926554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23421 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149953456-149954442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149956181-149956887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149969781-149970280 Neighboring gene synaptopodin Neighboring gene uncharacterized LOC124901108 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:149995691-149995878 Neighboring gene uncharacterized LOC124901107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23423 Neighboring gene Sharpr-MPRA regulatory region 14746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:150003601-150004100 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16513 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:150005713-150006428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:150006429-150007142

    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. Localization of human heparan glucosaminyl N-deacetylase/N-sulphotransferase to the trans-Golgi network. Humphries DE, et al. Biochem J, 1997 Jul 15. PMID 9230113, Free PMC Article
    2. A role of Lys614 in the sulfotransferase activity of human heparan sulfate N-deacetylase/N-sulfotransferase. Sueyoshi T, et al. FEBS Lett, 1998 Aug 21. PMID 9744796
    3. MicroRNA-191 targets N-deacetylase/N-sulfotransferase 1 and promotes cell growth in human gastric carcinoma cell line MGC803. Shi X, et al. Acta Biochim Biophys Sin (Shanghai), 2011 Nov. PMID 21947487
    4. Crystal structure of the sulfotransferase domain of human heparan sulfate N-deacetylase/ N-sulfotransferase 1. Kakuta Y, et al. J Biol Chem, 1999 Apr 16. PMID 10196134
    5. Role of Deacetylase Activity of N-Deacetylase/N-Sulfotransferase 1 in Forming N-Sulfated Domain in Heparan Sulfate. Dou W, et al. J Biol Chem, 2015 Aug 14. PMID 26109066, Free PMC Article

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants.
      Title: Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants.
    2. MiRNA-191 functions as an oncogene in primary glioblastoma by directly targeting NDST1.
      Title: MiRNA-191 functions as an oncogene in primary glioblastoma by directly targeting NDST1.
    3. Compound heterozygous mutations in NDST1 were identified, in the heparan sulfate N deacetylatase domain of one allele and the sulfotransferase domain of the other allele. This report expands the phenotypic spectrum of Ndst1 deficiency in humans.
      Title: A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.
    4. Among the genes enriched in this screening, the authors found that TM9SF2 is critical for N-sulfation of heparan sulfate and therefore for chikungunya virus infection because it is involved in the proper localization and stability of NDST1.
      Title: Genome-Wide Screening Uncovers the Significance of N-Sulfation of Heparan Sulfate as a Host Cell Factor for Chikungunya Virus Infection.
    5. Our data confirm NDST1 mutations as a cause of autosomal recessive intellectual disability with a distinctive phenotype, and support an important function of NDST1 in human development.
      Title: NDST1 missense mutations in autosomal recessive intellectual disability.
    6. demonstrate the essential role of domain cooperation within NDST-1 in producing HS with specific domain structures
      Title: Role of Deacetylase Activity of N-Deacetylase/N-Sulfotransferase 1 in Forming N-Sulfated Domain in Heparan Sulfate.
    7. Upregulation of NDST1 is associated with chemoresistance in breast cancer.
      Title: Methylation-regulated miR-149 modulates chemoresistance by targeting GlcNAc N-deacetylase/N-sulfotransferase-1 in human breast cancer.
    8. These findings establish NDST1 as a target of miR-24 and demonstrate how such NDST1 suppression in endothelial cells results in reduced responsiveness to VEGFA
      Title: MicroRNA-24 suppression of N-deacetylase/N-sulfotransferase-1 (NDST1) reduces endothelial cell responsiveness to vascular endothelial growth factor A (VEGFA).
    9. MicroRNA-191 targets N-deacetylase/N-sulfotransferase 1 and promotes cell growth in human gastric carcinoma cell line MGC803
      Title: MicroRNA-191 targets N-deacetylase/N-sulfotransferase 1 and promotes cell growth in human gastric carcinoma cell line MGC803.
    10. Inhibitory peptides of the sulfotransferase domain of the heparan sulfate enzyme, N-deacetylase-N-sulfotransferase-1.
      Title: Inhibitory peptides of the sulfotransferase domain of the heparan sulfate enzyme, N-deacetylase-N-sulfotransferase-1.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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
    Intellectual disability, autosomal recessive 46
    MedGen: C4015283 OMIM: 616116 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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat FITC-labeled Tat 47-59 peptide downregulates gene expression of N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1) in U-937 macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    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 N-acetylglucosamine deacetylase activity TAS
    Traceable Author Statement
    more info
    		  
    enables [heparan sulfate]-glucosamine N-sulfotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables [heparan sulfate]-glucosamine N-sulfotransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables [heparan sulfate]-glucosamine N-sulfotransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables [heparan sulfate]-glucosamine N-sulfotransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables deacetylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables heparan sulfate N-deacetylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables heparan sulfate N-deacetylase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aorta development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cardiac septum development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in coronary vasculature development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic neurocranium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic viscerocranium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fibroblast growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in forebrain development IEA
    Inferred from Electronic Annotation
    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 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in heparin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in midbrain development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in respiratory gaseous exchange by respiratory system IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in trans-Golgi network membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1
    Names
    HSNST 1
    N-Deacetylase-N-sulfotransferase 1
    N-HSST 1
    N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
    N-deacetylase/N-sulfotransferase 1
    N-heparan sulfate sulfotransferase 1
    NDST-1
    [Heparan sulfate]-glucosamine N-sulfotransferase 1
    glucosaminyl N-deacetylase/N-sulfotransferase 1
    heparan sulfate-N-deacetylase/N-sulfotransferase
    heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1
    NP_001287992.1
    NP_001534.1

    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.

    Genomic

    1. NG_041806.1 RefSeqGene

      Range
      15354..65434
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001301063.2 → NP_001287992.1  bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform 2

      See identical proteins and their annotated locations for NP_001287992.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame exon in the coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC011383, AK293746, ES315645, U18918
      Consensus CDS
      CCDS75358.1
      UniProtKB/TrEMBL
      A8K8T3
      Related
      ENSP00000428604.1, ENST00000523767.5
      Conserved Domains (2) summary
      pfam00685
      Location:605 → 798
      Sulfotransfer_1; Sulfotransferase domain
      pfam12062
      Location:30 → 515
      HSNSD; heparan sulfate-N-deacetylase

    2. NM_001543.5 → NP_001534.1  bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform 1

      See identical proteins and their annotated locations for NP_001534.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC011383, AK292448, U18918, U36600
      Consensus CDS
      CCDS34277.1
      UniProtKB/Swiss-Prot
      B7Z1Q0, E7EVJ3, P52848, Q96E57
      UniProtKB/TrEMBL
      A8K8T3
      Related
      ENSP00000261797.6, ENST00000261797.7
      Conserved Domains (2) summary
      pfam00685
      Location:605 → 855
      Sulfotransfer_1; Sulfotransferase domain
      pfam12062
      Location:30 → 515
      HSNSD; heparan sulfate-N-deacetylase

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      150497779..150558211
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      151034321..151094757
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P52848.1 GenPept UniProtKB/Swiss-Prot:P52848

    Gene LinkOut

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