HGSNAT

Protein-coding gene in the species Homo sapiens
HGSNAT
Identifiers
AliasesHGSNAT, HGNAT, MPS3C, TMEM76, RP73, heparan-alpha-glucosaminide N-acetyltransferase
External IDsOMIM: 610453; MGI: 1196297; HomoloGene: 15586; GeneCards: HGSNAT; OMA:HGSNAT - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for HGSNAT
Genomic location for HGSNAT
Band8p11.21-p11.1Start43,140,464 bp[1]
End43,202,855 bp[1]
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)[2]
Chromosome 8 (mouse)
Genomic location for HGSNAT
Genomic location for HGSNAT
Band8 A2|8 14.22 cMStart26,434,481 bp[2]
End26,466,781 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • gastric mucosa

  • right uterine tube

  • stromal cell of endometrium

  • canal of the cervix

  • left ovary

  • right ovary

  • tibial nerve

  • left uterine tube

  • body of uterus

  • skin of leg
Top expressed in
  • stroma of bone marrow

  • granulocyte

  • decidua

  • adrenal gland

  • pontine nuclei

  • ankle

  • molar

  • left lobe of liver

  • optic nerve

  • medulla oblongata
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • transferase activity
  • acyltransferase activity
  • heparan-alpha-glucosaminide N-acetyltransferase activity
Cellular component
  • integral component of membrane
  • lysosomal membrane
  • lysosome
  • membrane
  • plasma membrane
  • specific granule membrane
  • tertiary granule membrane
Biological process
  • lysosomal transport
  • glycosaminoglycan catabolic process
  • protein complex oligomerization
  • neutrophil degranulation
Sources:Amigo / QuickGO
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 ⇌ {\displaystyle \rightleftharpoons } 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. ^ a b c GRCh38: Ensembl release 89: ENSG00000165102 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b 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

  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Ausseil J, Loredo-Osti JC, Verner A, et al. (2005). "Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8". J. Med. Genet. 41 (12): 941–5. doi:10.1136/jmg.2004.021501. PMC 1735628. PMID 15591281.
  • Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
  • Nusbaum C, Mikkelsen TS, Zody MC, et al. (2006). "DNA sequence and analysis of human chromosome 8". Nature. 439 (7074): 331–5. Bibcode:2006Natur.439..331N. doi:10.1038/nature04406. PMID 16421571.
  • Fedele AO, Filocamo M, Di Rocco M, et al. (2007). "Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online". Hum. Mutat. 28 (5): 523. doi:10.1002/humu.9488. PMID 17397050. S2CID 21940082.
  • Klein U, Kresse H, von Figura K (1978). "Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts". Proc. Natl. Acad. Sci. U.S.A. 75 (10): 5185–9. Bibcode:1978PNAS...75.5185K. doi:10.1073/pnas.75.10.5185. PMC 336290. PMID 33384.
  • Pohlmann R, Klein U, Fromme HG, von Figura K (1981). "Localisation of acetyl-CoA: alpha-glucosaminide N-acetyltransferase in microsomes and lysosomes of rat liver". Hoppe-Seyler's Z. Physiol. Chem. 362 (9): 1199–207. doi:10.1515/bchm2.1981.362.2.1199. PMID 7346380.
  • v
  • t
  • e
2.3.1: other than amino-acyl groups
2.3.2: Aminoacyltransferases
2.3.3: converted into alkyl on transfer
Portal:
  • icon Biology