Human Gene GNS (uc001ssg.4) Description and Page Index
Description: Homo sapiens glucosamine (N-acetyl)-6-sulfatase (GNS), mRNA. RefSeq Summary (NM_002076): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.55744.1, SRR1803616.138171.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000258145.8/ ENSP00000258145.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr12:65,107,222-65,153,226 Size: 46,005 Total Exon Count: 14 Strand: - Coding Region Position: hg19 chr12:65,110,521-65,153,056 Size: 42,536 Coding Exon Count: 14
ID:GNS_HUMAN DESCRIPTION: RecName: Full=N-acetylglucosamine-6-sulfatase; EC=184.108.40.206; AltName: Full=Glucosamine-6-sulfatase; Short=G6S; Flags: Precursor; CATALYTIC ACTIVITY: Hydrolysis of the 6-sulfate groups of the N- acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate. COFACTOR: Binds 1 calcium ion per subunit (By similarity). INTERACTION: P16333:NCK1; NbExp=2; IntAct=EBI-1752200, EBI-389883; SUBCELLULAR LOCATION: Lysosome. PTM: The form A (78 kDa) is processed by internal peptidase cleavage to a 32 kDa N-terminal species (form B) and a 48 kDa C- terminal species. PTM: The conversion to 3-oxoalanine (also known as C- formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity (By similarity). DISEASE: Defects in GNS are the cause of mucopolysaccharidosis type 3D (MPS3D) [MIM:252940]; also known as Sanfilippo D syndrome. MPS3D is a form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. SIMILARITY: Belongs to the sulfatase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GNS";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P15586
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.