GNS glucosamine (N-acetyl)-6-sulfatase [Homo sapiens (human)] - Gene

Summary

Official Symbol: GNSprovided by HGNC
Official Full Name: glucosamine (N-acetyl)-6-sulfataseprovided by HGNC
Primary source: HGNC:HGNC:4422
See related: Ensembl:ENSG00000135677 MIM:607664; AllianceGenome:HGNC:4422
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: G6S
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]
Expression: Ubiquitous expression in adrenal (RPKM 76.5), kidney (RPKM 63.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q14.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (64713449..64759406, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (64692475..64738233, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (65107229..65153186, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

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.
12 new patients and 15 novel mutations were identified in Mucopolysaccharidosis type IIID.
Title: Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
We identified the novel homozygous single base pair insertion, c.1226GinsG, which leads to a frame-shift and a premature truncation of the GNS protein (p.R409Rfs21X).
Title: A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D.
Sanfilippo syndrome type D has 3 novel mutations in the GNS Gene.
Title: Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.
A large intragenic deletion of 8723 bp encompassing exons 2 and 3 has been identified, the first large intragenic deletion to be reported in any of the four Sanfilippo subtypes. Q272X has also been found.
Title: Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID).
The Sanfilippo syndrome type D patient was found to be homozygous for a single base pair deletion (c1169delA), which will cause a frameshift and premature termination of N-acetylglucosamine-6-sulphatase.
Title: Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mucopolysaccharidosis, MPS-III-D MedGen: C0086650 OMIM: 252940 GeneReviews: Mucopolysaccharidosis Type III	Compare labs

Variation

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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
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of glucosamine (N-acetyl)-6-sulfatase (GNS) expression by HIV-1 Vpr in Vpr transduced 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

SHGC-34784 (e-PCR)
- UniSTS:72746

RH44874 (e-PCR)
- UniSTS:36650

D8S2279 (e-PCR)
- UniSTS:473907

RH11164 (e-PCR)
- UniSTS:25678

SHGC-35771 (e-PCR)
- UniSTS:54374

G64479 (e-PCR)
- UniSTS:163973

STS-Z12173 (e-PCR)
- UniSTS:74648

G64499 (e-PCR)
- UniSTS:164001

GDB:384851 (e-PCR)
- UniSTS:157108

STS-Z12173 (e-PCR)
- UniSTS:43712

GNS (e-PCR)
- UniSTS:504041

Gene Ontology Provided by GOA

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	TAS Traceable Author Statement more info
enables glycosaminoglycan binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sulfate binding	IEA Inferred from Electronic Annotation more info
enables sulfuric ester hydrolase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in glycosaminoglycan catabolic process	TAS Traceable Author Statement more info	PubMed
involved_in keratan sulfate catabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in azurophil granule lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in lysosomal lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: N-acetylglucosamine-6-sulfatase

Names: glucosamine -6-sulfatase

NP_002067.1

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.

Genomic

NG_008955.1 RefSeqGene

Range

5041..50998

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002076.4 → NP_002067.1 N-acetylglucosamine-6-sulfatase precursor

Status: REVIEWED

Source sequence(s)

BC012482, BX537363, DA333542

Consensus CDS

CCDS8970.1

UniProtKB/Swiss-Prot

B4DYH8, P15586, Q53F05

UniProtKB/TrEMBL

A0A024RBC5, A8K6V6

Related

ENSP00000258145.3, ENST00000258145.8

Conserved Domains (1) summary

cd16147
Location:46 → 495

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