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

Gene ID: 2799, updated on 1-Jun-2020

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
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

Genomic context

See GNS in Genome Data Viewer
Location:
12q14.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (64713449..64759406, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (65107222..65153226, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369804 Neighboring gene Ras association domain family member 3 Neighboring gene microRNA 548c Neighboring gene microRNA 548z Neighboring gene TBC1 domain family member 30 Neighboring gene ribosomal protein L7 pseudogene 39 Neighboring gene long intergenic non-protein coding RNA 2389 Neighboring gene long intergenic non-protein coding RNA 2231 Neighboring gene RNA, U6atac small nuclear 42, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC21274

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acetylglucosamine-6-sulfatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
N-acetylglucosamine-6-sulfatase activity TAS
Traceable Author Statement
more info
 
glycosaminoglycan binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sulfuric ester hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
glycosaminoglycan catabolic process TAS
Traceable Author Statement
more info
PubMed 
keratan sulfate catabolic process TAS
Traceable Author Statement
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
azurophil granule lumen TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
N-acetylglucosamine-6-sulfatase
Names
glucosamine -6-sulfatase
NP_002067.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_008955.1 RefSeqGene

    Range
    5041..50998
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_002067.1

    Status: REVIEWED

    Source sequence(s)
    BC012482, BX537363, DA333542
    Consensus CDS
    CCDS8970.1
    UniProtKB/Swiss-Prot
    P15586
    UniProtKB/TrEMBL
    A0A024RBC5, Q7Z3X3
    Related
    ENSP00000258145.3, ENST00000258145.8
    Conserved Domains (1) summary
    cd16147
    Location:46495
    G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    64713449..64759406 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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