HGSNAT Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | HGSNAT |
| Official Name | heparan-alpha-glucosaminide N-acetyltransferase [Source:HGNC Symbol;Acc:HGNC:26527] |
| Ensembl ID | ENSG00000165102 |
| Bio databases IDs | |
| Aliases | heparan-alpha-glucosaminide N-acetyltransferase |
| Synonyms | 9430010M12Rik, D8Ertd354e, FLJ22242, heparan-alpha-glucosaminide N-acetyltransferase, heparan-α-glucosaminide N-acetyltransferase, HGNAT, LOC100360010, LOC100364957, MPS3C, RGD1560755, RP73, TMEM76 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HGSNAT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- enzyme
- transferase, transferring acyl groups
- heparan-alpha-glucosaminide N-acetyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- mucopolysaccharidosis type IIIC
- retinitis pigmentosa type 73
- retinal dystrophy
- hereditary disorder
- schizophrenia
- Sanfilippo disease
- retinitis pigmentosa
- spatial memory impairment
- short-term memory impairment
regulates
- heparan sulfate proteoglycan
- d20:1 ganglioside GM2
- asialo GM2 ganglioside
- ATP5F1C
- ganglioside GM3
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Plasma Membrane
- lysosome
- tertiary granule membrane
- specific granule membrane
- lysosome membrane
- lysosomal compartment
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HGSNAT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lysosomal transport
- heparan sulfate proteoglycan catabolic process
- protein oligomerization
Cellular Component
Where in the cell the gene product is active
- lysosomal lumen
- plasma membrane
- tertiary granule membrane
- lysosomal membrane
- specific granule membrane
Molecular Function
What the gene product does at the molecular level
- transferase activity, transferring acyl groups
- heparan-alpha-glucosaminide N-acetyltransferase activity