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NDST1 - N-deacetylase and N-sulfotransferase 1 Gene

Also Known as HSST; NST1; MRT46

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3340

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	References	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	References	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

Sulfotransfer_1

0
200
400
600
800
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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09118	NDST1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20062	Ndst1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26566	Ndst1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	NDST1	NCBI