HGSNAT

HGSNAT
Identifiers
Aliases HGSNAT, HGNAT, MPS3C, TMEM76, RP73, heparan-alpha-glucosaminide N-acetyltransferase
External IDs MGI: 1196297 HomoloGene: 15586 GeneCards: HGSNAT
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

138050

52120

Ensembl

ENSG00000165102

ENSMUSG00000037260

UniProt

Q68CP4

Q3UDW8

RefSeq (mRNA)

NM_152419

NM_029884
NM_133970

RefSeq (protein)

NP_689632.2

NP_084160.1

Location (UCSC) Chr 8: 43.14 – 43.2 Mb Chr 8: 25.94 – 25.98 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse
heparan-alpha-glucosaminide N-acetyltransferase
Identifiers
EC number 2.3.1.78
CAS number 79955-83-2
Databases
IntEnz IntEnz view
BRENDA BRENDA entry
ExPASy NiceZyme view
KEGG KEGG entry
MetaCyc metabolic pathway
PRIAM profile
PDB structures RCSB PDB PDBe PDBsum
Gene Ontology AmiGO / EGO

Heparan-α-glucosaminide N-acetyltransferase (also called "acetyl-CoA:heparan-α-D-glucosaminide N-acetyltransferase" and "acetyl-CoA:alpha-glucosaminide N-acetyltransferase") is an enzyme that in humans is encoded by the HGSNAT gene.[3][4][5]

In enzymology, this enzyme belongs to the family of transferases, specifically those acyltransferases transferring groups other than aminoacyl groups. It is catalysed in the chemical reaction:

acetyl-CoA + heparan sulfate α-D-glucosaminide CoA + heparan sulfate N-acetyl-α-D-glucosaminide

This enzyme participates in glycosaminoglycan degradation and glycan structures degradation. Mutations in the gene encoding this enzyme cause mucopolysaccharidosis IIIC.[4]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. Hrebicek M, Mrazova L, Seyrantepe V, Durand S, Roslin NM, Noskova L, Hartmannova H, Ivanek R, Cizkova A, Poupetova H, Sikora J, Urinovska J, Stranecky V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV (Oct 2006). "Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)". Am J Hum Genet. 79 (5): 807–19. doi:10.1086/508294. PMC 1698556Freely accessible. PMID 17033958.
  4. 1 2 Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, Mahuran DJ (Sep 2006). "Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)". Am J Hum Genet. 79 (4): 738–44. doi:10.1086/508068. PMC 1592569Freely accessible. PMID 16960811.
  5. "Entrez Gene: HGSNAT heparan-alpha-glucosaminide N-acetyltransferase".

Further reading

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