HGSNAT
Identifiers
AliasesHGSNAT, HGNAT, MPS3C, TMEM76, RP73, heparan-alpha-glucosaminide N-acetyltransferase
External IDsOMIM: 610453 MGI: 1196297 HomoloGene: 15586 GeneCards: HGSNAT
Orthologs
SpeciesHumanMouse
Entrez

138050

52120

Ensembl

ENSG00000165102

ENSMUSG00000037260

UniProt

Q68CP4

Q3UDW8

RefSeq (mRNA)

NM_152419
NM_001363227
NM_001363228
NM_001363229
NM_025070

NM_029884
NM_133970

RefSeq (protein)

NP_689632
NP_001350156
NP_001350157
NP_001350158

NP_084160

Location (UCSC)Chr 8: 43.14 – 43.2 MbChr 8: 26.43 – 26.47 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
heparan-alpha-glucosaminide N-acetyltransferase
Identifiers
EC no.2.3.1.78
CAS no.79955-83-2
Databases
IntEnzIntEnz view
BRENDABRENDA entry
ExPASyNiceZyme view
KEGGKEGG entry
MetaCycmetabolic pathway
PRIAMprofile
PDB structuresRCSB PDB PDBe PDBsum
Gene OntologyAmiGO / QuickGO
Search
PMCarticles
PubMedarticles
NCBIproteins

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.[5][6][7]

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.[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000165102 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000037260 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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 1698556. PMID 17033958.
  6. 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 1592569. PMID 16960811.
  7. "Entrez Gene: HGSNAT heparan-alpha-glucosaminide N-acetyltransferase".

Further reading

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