2. Gene
  3. NDST1 - N-deacetylase and N-sulfotransferase 1 Gene

NDST1 - N-deacetylase and N-sulfotransferase 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as HSST; NST1; MRT46

Gene ID: 3340 | Gene type: protein coding

About NDST1

Cytogenetic location: 5q33.1 Genomic coordinates (GRCh38): 5:150,497,779-150,558,211 (from NCBI)

This gene has 9 transcripts (splice variants), 228 orthologues, 10 paralogues and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 12.3), lung (RPKM 12.2) and 25 other tissues.

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]

NDST1 Products(2)

mRNA Protein Name
NM_001301063.2 NP_001287992.1 bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform 2
NM_001543.5 NP_001534.1 bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform 1
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables [heparan sulfate]-glucosamine N-sulfotransferase activity IDA
IDA: Inferred from direct assay
35137078 GOA
enables [heparan sulfate]-glucosamine N-sulfotransferase activity IMP
IMP: Inferred from mutant phenotype
9230113 GOA
enables heparan sulfate N-deacetylase activity IDA
IDA: Inferred from direct assay
35137078 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
18337501 GOA
Cellular Component GO Annotation Evidence Reference Source
located in trans-Golgi network membrane IDA
IDA: Inferred from direct assay
9230113 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NDST1 Protein Structure

HSNSD

HSNSD: heparan sulfate-N-deacetylase (25 - 515)

Sulfotransfer_1

Sulfotransfer_1: Sulfotransferase domain (605 - 858)

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  • 882 a.a.
Protein Preferred Names Protein Names

bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1

HSNST 1

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Recessive 46

MRT46

Mental Retardation, Autosomal Recessive 46

Autosomal Recessive Intellectual Developmental Disorder 46

Mental Retardation, Autosomal Recessive, Type 46
Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid
Treacher Collins Syndrome 1

Treacher Collins Syndrome

Mandibulofacial Dysostosis

Treacher Collins-Franceschetti Syndrome

Tcof

Tcs

Mfd1

Franceschetti-Klein Syndrome

TCS1

Franceschetti Syndrome

Franceschetti-Zwahlen-Klein Syndrome

Zygoauromandibular Dysplasia

Treacher-Collins Syndrome

Mandibulofacial Dysostosis Without Limb Anomalies

Bilateral And Symmetric Oto-Mandibular Dysplasia
Vulto-Van Silfhout-De Vries Syndrome

Vulto-Van Silfout-De Vries Syndrome

VSVS

Intellectual Developmental Disorder With Impaired Expressive Speech And Behavioral Abnormalities, With Or Without Seizures

Iddisbas

Mrd24

Mental Retardation, Autosomal Dominant 24

Autosomal Dominant Mental Retardation 24

Autosomal Dominant Non-Syndromic Intellectual Disability 24

Mental Retardation, Autosomal Dominant, Type 24
Exostosis

Osteophyte

Exostoses

Orbital Exostosis

Exostosis Of Orbit

Bone Spur

Bony Outgrowth

Swimmer'S Exostosis

Osteophytes

External Exotoses

Cartilaginous Exostosis
Hereditary Multiple Exostoses

Multiple Congenital Exostosis

Hereditary Multiple Exostoses 1

Hereditary Multiple Exostoses 2

Hereditary Multiple Exostoses 3

Multiple Exostosis Syndromes

Multiple Ostechondromas

Osteochondromatosis Syndrome

Exostoses Multiple Hereditary

Exostoses, Multiple Hereditary
Temtamy Preaxial Brachydactyly Syndrome

Preaxial Brachydactyly Syndrome, Temtamy Type

TPBS

Intellectual Disability Syndrome With Preaxial Brachydactyly, Hyperphalangism, Deafness And Orodental Anomalies

Preaxial Brachydactyly Syndrome Temtamy Type
Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia

Diaphragmatic Hernia

Cdh

Congenital Diaphragmatic Defect

Hernia, Diaphragmatic

Dih

Hernia, Congenital Diaphragmatic

Hcd

Diaphragmatic Defect, Congenital

Diaphragm, Unilateral Agenesis Of

Hemidiaphragm, Agenesis Of

Diaphragmatic Hernia 1

Agenesis Of Hemidiaphragm

Unilateral Agenesis Of Diaphragm

Hernia Diaphragmatic

Hernia Diaphragmatic Congenital

Hernia, Diaphragmatic, Type 1

Hiatus Hernia

Oesophageal Hiatus Hernia

Paraoesophageal Hernia

Sliding Hiatus Hernia

Congenital Diaphragm Hernia

Congenital Diaphragm Defect With Hernia

Gross Congenital Diaphragm Defect
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS09118 NDST1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus NDST1 MGD MGI:104719
Rattus norvegicus NDST1 RGD RGD:69303
Felis catus NDST1 VGNC VGNC:68435
Bos taurus NDST1 VGNC VGNC:31942
Macaca mulatta NDST1 VGNC VGNC:75151
Canis familiaris NDST1 VGNC VGNC:43682