GNS - glucosamine (N-acetyl)-6-sulfatase Gene

Also Known as G6S

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 2799

About GNS

Cytogenetic location: 12q14.3 Genomic coordinates (GRCh38): 12:64,713,449-64,759,406 (from NCBI)

This gene has 9 transcripts (splice variants), 207 orthologues, 16 paralogues and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 76.5), kidney (RPKM 63.0) and 24 other tissues.

Summary

The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]

GNS Products (1)

mRNA	Protein	Name
NM_002076.4	NP_002067.1	N-acetylglucosamine-6-sulfatase precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	17474147	GOA
enables sulfuric ester hydrolase activity	IDA IDA: Inferred from direct assay	15962010	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

GNS Protein Structure

Sulfatase

0
100
200
300
400
500
552 a.a.

Protein Preferred Names	Protein Names
N-acetylglucosamine-6-sulfatase	glucosamine -6-sulfatase

GNS Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	GNS	P15586	NCK1	Homo sapiens	P16333	Peptide Array	17474147

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant GNS Proteins

製品番号	製品名	アクセッション番号	純度
HY-P70300	Glucosamine (N-acetyl)-6-Sulfatase/GNS Protein, Human (HEK293, His)	P15586-1 (V37-L552)	≥ 95%, as determined by reducing SDS-PAGE.

関連疾患

Diseases	Alias
Mucopolysaccharidosis, Type Iiid	Mucopolysaccharidosis Type Iiid MPS3D Mps Iiid N-Acetylglucosamine-6-Sulfatase Deficiency Sanfilippo Syndrome D Gns Deficiency Mucopolysaccharidosis Type 3d Sanfilippo Syndrome Type D Glucosamine N-Acetyl-6-Sulfatase Deficiency Mpsiiid Mps 3d Mucopoly-Saccharidosis Type 3d N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency Mps Iii-D Mucopolysaccharidosis 3d Sanfilippo D Syndrome Mps Iii D
Mucopolysaccharidosis Iii	Sanfilippo Syndrome Mucopolysaccharidosis Type Iii Mucopolysaccharidosis Type 3 Mps Iii Mpsiii Sanfilippo Disease Heparan Sulfate Sulfatase Deficiency Mucopolysaccharidosis, Mps-Iii N-Sulphoglucosamine Sulphohydrolase Deficiency Naglu Deficiency Sanfilippo'S Syndrome Mucopoly-Saccharidosis Type 3 Mps3 Sanfilippos Syndrome Mucopolysaccharidosis Type Iiia Mps Iii B
Mucopolysaccharidosis-Plus Syndrome	Mucopolysaccharidosis Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders MPSPS Mucopolysaccharidoses Mps Mucopolysaccharidosis-Like Plus Disease Disorders Of Glycosaminoglycan Metabolism
Multiple Sulfatase Deficiency	Mucosulfatidosis MSD Sulfatidosis, Juvenile, Austin Type Multiple Sulfatase Deficiency Disease Juvenile Sulfatidosis, Austin Type Juvenile Sulfatidosis Sulfatidosis Juvenile, Austin Type Austin Syndrome Sulfatidosis Juvenile Austin Type Sulfatase Deficiency, Multiple
Mucopolysaccharidosis, Type Iiic	Mucopolysaccharidosis Type Iiic MPS3C Mps Iiic Sanfilippo Syndrome C Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency Hgsnat Deficiency Mpsiiic Mucopolysaccharidosis Type 3c Sanfilippo Syndrome Type C Acetyl-Coa:Alpha-Glucosaminide N-Acetyltransferase Deficiency Mucopoly-Saccharidosis Type 3c Acetyl-Coa Alpha-Glucosaminide Acetyltransferase Deficiency Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency Mps 3c Mps Iii-C Mucopolysaccharidosis 3c Mucopolysaccharidosis Iii Mps Iii C
Scheie Syndrome	Mucopolysaccharidosis Type Is Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I Mucopolysaccharidosis I Hurler-Scheie Syndrome Mucopolysaccharidosis Type 1 Mucopolysaccharidosis Is Mucopolysaccharidosis Type 1s Mucopolysaccharidosis Type V Hurler Syndrome Idua Deficiency Mps I MPS1S Mps1-S Mucopolysaccharidosis Type V, Formerly Mps V, Formerly Mps5, Formerly Lipochondrodystrophy Mpsis Mucopolysaccharidosis, Type I Iduronidase Deficiency Disease Mps I - Hurler Syndrome Mucopolysaccharidosis, Mps-I Mucopolysaccharidosis, Type 1 Attenuated Mps I Mps 1 Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V) Severe Mps I Mps I H Mps I H-S Mps I S Mps1 Mpsi Mucopolysaccharidosis 1s Mps Is Mps-Is Mps V Mucopolysaccharidosis V Pfaundler-Hurler Syndrome L-Iduronidase Deficiency Dysostosis Multiplex Dysostosis Multiplex Syndrome Gargoylism Mps1 - [Mucopolysaccharidosis Type 1]
Mucopolysaccharidosis, Type Iiib	Mucopolysaccharidosis Type Iiib MPS3B Naglu Deficiency Mps Iiib Sanfilippo Syndrome B N-Acetyl-Alpha-D-Glucosaminidase Deficiency Mpsiiib Mucopoly-Saccharidosis Type 3b Mucopolysaccharidosis Type 3b N-Acetyl-Alpha-Glucosaminidase Deficiency Sanfilippo Syndrome Type B Mps Iii B Mps 3b Mps Iii-B Mucopolysaccharidosis 3b
Osteogenesis Imperfecta, Type Xiii	Osteogenesis Imperfecta Type 13 OI13 Osteogenesis Imperfecta Type Xiii Oi, Type Xiii Osteogenesis Imperfecta 13 Oi Type Xiii Oi-Xiii
Mucopolysaccharidosis, Type Iiia	Mucopolysaccharidosis Type Iiia MPS3A Mps Iiia Sanfilippo Syndrome A Heparan Sulfate Sulfatase Deficiency Sulfamidase Deficiency Heparan Sulfamidase Deficiency Mpsiiia Mucopolysaccharidosis Type 3a Sanfilippo Syndrome Type A Mucopolysaccharidosis Iii-A Heparane Sulfamidase Deficiency Mps 3a Mucopoly-Saccharidosis Type 3a Mps Iii-A Mucopolysaccharidosis 3a Mucopolysaccharidosis Iii
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
Mucopolysaccharidosis, Type Iva	Mps Iva Galns Deficiency MPS4A Morquio A Disease Galactosamine-6-Sulfatase Deficiency Morquio Syndrome A Mucopolysaccharidosis Iva Mucopolysaccharidosis Type Iva Mpsiva Morquio Disease Type A Mucopolysaccharidosis Type 4a N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency Morquio Syndrome Type A Mps 4a Morquio Disease, Type A Mucopolysaccharidosis 4a Morquio'S Syndrome A Mps Iv A Mucopolysaccharidosis Iv Mucopolysaccharidosis, Mps-Iv-A
Osteogenesis Imperfecta, Type Xi	Osteogenesis Imperfecta Type 11 OI11 Osteogenesis Imperfecta Type Xi Oi, Type Xi Osteogenesis Imperfecta 11 Oi Type Xi Oi-Xi
Mucopolysaccharidosis, Type Ivb	Mucopolysaccharidosis Type Ivb Mps Ivb MPS4B Morquio Syndrome B Beta-D-Galactosidase Deficiency Morquio Disease Type B Mps 4b Mucopolysaccharidosis Type 4b Mpsivb Morquio Disease, Type B Mucopolysaccharidosis Type Iv-B Mucopolysaccharidosis 4b Morquio'S Syndrome B Mps-Ivb
Mucopolysaccharidosis Iv	Morquio Syndrome Mucopolysaccharidosis Type 4 Mucopolysaccharidosis Type Iv Morquio Disease Galactosamine-6-Sulfatase Deficiency Mps4 Mpsiv Morquio-Brailsford Disease Chondroosteodystrophy Deficiency Of Chondroitinsulphatase Deficiency Of N-Acetylgalactosamine-6-Sulphatase Mucopolysaccharidosis, Mps-Iv Osteochondrodystrophy Morquio'S Disease Morquio'S Syndrome Mps Iv Mucopolysaccharidosis Iv Morquios Syndrome Mucopolysaccharidosis, Mps-Iv-A Mucopolysaccharidosis Type Ivb Galns Deficiency
Mucopolysaccharidosis, Type Vi	Maroteaux-Lamy Syndrome Arylsulfatase B Deficiency Mucopolysaccharidosis Type Vi Mps Vi Mucopolysaccharidosis Vi Mucopolysaccharidosis Type 6 MPS6 Arsb Deficiency N-Acetylgalactosamine-4-Sulfatase Deficiency Mucopolysaccharidosis 6 N-Acetylgalactosamine 4-Sulfatase Deficiency Deficiency Of N-Acetylgalactosamine-4-Sulfatase Maroteaux - Lamy Syndrome Mps Vi - Maroteaux-Lamy Syndrome Mps 6 Maroteaux Lamy Syndrome Mucopoly-Saccharidosis Type Vi Polydystrophic Dwarfism Asb Deficiency Mpsvi Maroteaux-Lamy Disease Arsb - [Arylsulfatase B] Deficiency
Hurler Syndrome	Mucopolysaccharidosis Ih Mucopolysaccharidosis Type Ih Mps1-H MPS1H Hurler Disease Mpsih Mucopolysaccharidosis Type 1h Alpha-L-Iduronidase Deficiency Dysostosis Multiplex Dysostosis Multiplex Syndrome Gargoylism Hurler Disease Mps Type 1h Hurler-Pfaundler Syndrome L-Iduronidase Deficiency, Hurler Type Mucopolysaccharidosis Type I Severe Form Mucopolysaccharidosis 1h Hurler'S Syndrome Mps Ih Mps-Ih Pfaundler-Hurler Syndrome Mucopolysaccharidosis I
Wild-Type Amyloidosis	Senile Systemic Amyloidosis Attrwt Amyloidosis Age Related Amyloidosis Old Age Amyloidosis Wild-Type Attr Amyloidosis Wild-Type Transthyretin Cardiac Amyloidosis Wild Type Attr Amyloidosis Attrwt-Related Amyloidosis Wild Type Attr-Related Amyloidosis
Mucopolysaccharidosis, Type Vii	Sly Syndrome Beta-Glucuronidase Deficiency Mucopolysaccharidosis Vii Mucopolysaccharidosis Type Vii MPS7 Mps Vii Gusb Deficiency Mucopolysaccharidosis Type 7 Mucopolysaccharidosis 7 Deficiency Of Beta-Glucuronidase Mps Vii - Sly Syndrome Mps 7 Mpsvii Sly Disease Sl
Myostatin-Related Muscle Hypertrophy	Mslhp Muscle Hypertrophy Syndrome
Mucopolysaccharidosis, Type Ii	Hunter Syndrome Iduronate 2-Sulfatase Deficiency Mucopolysaccharidosis Ii Mps Ii Mucopolysaccharidosis Type Ii MPS2 Sulfoiduronate Sulfatase Deficiency Mucopolysaccharidosis, Mps-Ii Ids Deficiency Sids Deficiency I2s Deficiency Mucopolysaccharidosis Type 2 Mucopolysaccharidosis Type 2, Severe Form Deficiency Of Iduronate-2-Sulphatase Hunter'S Syndrome Mps Ii - Hunter Syndrome Iduronate-2-Sulfatase Deficiency Attenuated Mps Mps 2 Severe Mps Ii Mpsii Mucopolysaccharidosis Type 2, Attenuated Form Hunter Syndrome Type B Iduronate 2-Sulfatase Deficiency Type B Mps2b Mpsiib Mucopolysaccharidosis Type 2b Mucopolysaccharidosis Type Ii, Attenuated Form Mucopolysaccharidosis Type Iib Hunter Syndrome Type A Iduronate 2-Sulfatase Deficiency Type A Mps2a Mpsiia Mucopolysaccharidosis Type 2a Mucopolysaccharidosis Type Ii, Severe Form Mucopolysaccharidosis Type Iia Mucopolysaccharidosis 2 Hunters Syndrome Iduronate 2-Sulphatase Deficiency Iduronate Sulfatase Deficiency Iduronate Sulphatase Deficiency Sulfo-Iduronate Sulfatase Deficiency Sulfoiduronidate Sulfatase Deficiency Sulpho-Iduronate Sulphatase Deficiency Sulphoiduronidate Sulphatase Deficiency Mps2 - [Mucopolysaccharidosis 2]

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

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-109061	Lazertinib		99.87%	Unkown

Clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Phase
HY-137978A	Ezurpimtrostat hydrochloride		99.26%	Phase 2

Pre-clinical Phase

Bioactive Molecules (7)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-109061B	Lazertinib mesylate		99.85%	Unkown
HY-137978	Ezurpimtrostat		99.37%	Unkown
HY-109061A	Lazertinib mesylate hydrate		/	Unkown
HY-183351	GN-604		/	Unkown
HY-RS05581	GNS Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19296	Gns Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25787	Gns Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Macaca mulatta	GNS	VGNC	VGNC:99932
Canis familiaris	GNS	VGNC	VGNC:54150
Mus musculus	GNS	MGD	MGI:1922862
Rattus norvegicus	GNS	RGD	RGD:1305877
Bos taurus	GNS	VGNC	VGNC:56204
Felis catus	GNS	VGNC	VGNC:84025
Others	GNS	NCBI