Contents

HGSNAT

Protein-coding gene in the species Homo sapiens

HGSNAT
Identifiers
Aliases	HGSNAT, HGNAT, MPS3C, TMEM76, RP73, heparan-alpha-glucosaminide N-acetyltransferase
External IDs	OMIM: 610453; MGI: 1196297; HomoloGene: 15586; GeneCards: HGSNAT; OMA:HGSNAT - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8p11.21-p11.1 Start 43,140,464 bp[1] End 43,202,855 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 A2|8 14.22 cM Start 26,434,481 bp[2] End 26,466,781 bp[2]
RNA expression pattern Bgee Human Mouse (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 Species Human Mouse 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 Mb Chr 8: 26.43 – 26.47 Mb PubMed search [3] [4]
Wikidata
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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]

Inenzymology, 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]

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