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

Summary

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

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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).
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.
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)

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

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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

D5S636 (e-PCR), detects polymorphism
- UniSTS:4627

D5S1887 (e-PCR)
- UniSTS:37165

D5S2650 (e-PCR)
- UniSTS:60226

Ndst1 (e-PCR), detects polymorphism
- UniSTS:532560

RH79124 (e-PCR)
- UniSTS:26709

HSC25B122 (e-PCR)
- UniSTS:82290

WI-13830 (e-PCR)
- UniSTS:44233

A007E23 (e-PCR)
- UniSTS:4846

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

EC 2.8.2.8

NP_001534.1

EC 2.8.2.8

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

NG_041806.1 RefSeqGene

Range

15354..65434

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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