Gns glucosamine (N-acetyl)-6-sulfatase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gnsprovided by MGI
Official Full Name: glucosamine (N-acetyl)-6-sulfataseprovided by MGI
Primary source: MGI:MGI:1922862
See related: Ensembl:ENSMUSG00000034707 AllianceGenome:MGI:1922862
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: G6S; 2610016K11Rik
Summary: Predicted to enable N-acetylglucosamine-6-sulfatase activity; glycosaminoglycan binding activity; and sulfate binding activity. Predicted to be involved in keratan sulfate catabolic process. Located in lysosome. Is expressed in several structures, including eye; nervous system; skeleton; and spleen primordium. Used to study mucopolysaccharidosis III. Human ortholog(s) of this gene implicated in mucopolysaccharidosis III and mucopolysaccharidosis type IIID. Orthologous to human GNS (glucosamine (N-acetyl)-6-sulfatase). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 66.2), kidney adult (RPKM 51.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 D2; 10 69.62 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (121200995..121233159)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (121365090..121397254)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mice deficient in GNS showed lysosomal storage pathology and a phenotype that closely resembled human MPSIIID. Moreover, treatment of the GNS-deficient animals with GNS-encoding adeno-associated viral (AAV) vectors of serotype 9 delivered to the cerebrospinal fluid completely corrected pathological storage, improved lysosomal functionality in the CNS and somatic tissues, resolved neuroinflammation
Title: Disease correction by AAV-mediated gene therapy in a new mouse model of mucopolysaccharidosis type IIID.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU042285 (e-PCR)
- UniSTS:160035

RH125044 (e-PCR)
- UniSTS:161866

RH132435 (e-PCR)
- UniSTS:215718

C87209 (e-PCR)
- UniSTS:208617

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables N-acetylglucosamine-6-sulfatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables N-acetylglucosamine-6-sulfatase activity	IEA Inferred from Electronic Annotation more info
enables N-acetylglucosamine-6-sulfatase activity	ISO Inferred from Sequence Orthology more info
enables glycosaminoglycan binding	IBA Inferred from Biological aspect of Ancestor more info
enables glycosaminoglycan binding	IEA Inferred from Electronic Annotation more info
enables glycosaminoglycan binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables sulfate binding	IEA Inferred from Electronic Annotation more info
enables sulfate binding	ISO Inferred from Sequence Orthology more info
enables sulfuric ester hydrolase activity	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
involved_in keratan sulfate catabolic process	IEA Inferred from Electronic Annotation more info
involved_in keratan sulfate catabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: N-acetylglucosamine-6-sulfatase

NP_001351624.1

EC 3.1.6.14

NP_083640.1

EC 3.1.6.14

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.

mRNA and Protein(s)

NM_001364695.1 → NP_001351624.1 N-acetylglucosamine-6-sulfatase isoform 2

Status: VALIDATED

Source sequence(s)

AC140264

Conserved Domains (1) summary

cd16147
Location:1 → 269

G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)
NM_029364.4 → NP_083640.1 N-acetylglucosamine-6-sulfatase isoform 1 precursor

See identical proteins and their annotated locations for NP_083640.1

Status: VALIDATED

Source sequence(s)

AC140264

Consensus CDS

CCDS24210.1

UniProtKB/Swiss-Prot

Q3TWT0, Q8BFR4, Q8BJJ7, Q8BK91

UniProtKB/TrEMBL

Q3UBB0

Related

ENSMUSP00000043167.7, ENSMUST00000040344.7

Conserved Domains (2) summary

COG3119
Location:35 → 496

AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]

cd16147
Location:38 → 487

G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)