Description: Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA. RefSeq Summary (NM_152419): This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]. Transcript (Including UTRs) Position: hg19 chr8:42,995,592-43,057,970 Size: 62,379 Total Exon Count: 18 Strand: + Coding Region Position: hg19 chr8:42,995,640-43,054,712 Size: 59,073 Coding Exon Count: 18
ID:HGNAT_HUMAN DESCRIPTION: RecName: Full=Heparan-alpha-glucosaminide N-acetyltransferase; EC=2.3.1.78; AltName: Full=Transmembrane protein 76; FUNCTION: Lysosomal acetyltransferase that acetylates the non- reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase. CATALYTIC ACTIVITY: Acetyl-CoA + heparan sulfate alpha-D- glucosaminide = CoA + heparan sulfate N-acetyl-alpha-D- glucosaminide. SUBUNIT: Homooligomer. Homooligomerization is necessary for enzyme activity. SUBCELLULAR LOCATION: Lysosome membrane; Multi-pass membrane protein. Note=Colocalizes with the lysosomal marker LAMP2. The signal peptide is not cleaved upon translocation into the endoplasmic reticulum; the precursor is probably targeted to the lysosomes via the adapter protein complex-mediated pathway that involves tyrosine- and/or dileucine-based conserved amino acid motifs in the last C-terminus 16-amino acid domain. TISSUE SPECIFICITY: Widely expressed, with highest level in leukocytes, heart, liver, skeletal muscle, lung, placenta and liver. PTM: Undergoes intralysosomal proteolytic cleavage; occurs within the end of the first and/or the beginning of the second luminal domain and is essential for the activation of the enzyme. PTM: Glycosylated. DISEASE: Defects in HGSNAT are the cause of mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]; also known as Sanfilippo C syndrome. MPS3C 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. MISCELLANEOUS: A signal sequence is predicted but has been shown not to be cleaved in the reticulum endoplasmic. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HGSNAT";
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.
Pfam Domains: PF07786 - Protein of unknown function (DUF1624) PF16401 - Domain of unknown function (DUF5009)
ModBase Predicted Comparative 3D Structure on Q68CP4
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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.
Biological Process: GO:0006027 glycosaminoglycan catabolic process GO:0007041 lysosomal transport GO:0043312 neutrophil degranulation GO:0051259 protein oligomerization
US Server
