Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | HGSNAT | contributors: mct - updated : 01-12-2015 |
HGNC name | heparan-alpha-glucosaminide N-acetyltransferase |
HGNC id | 26527 |
|
DNA |
TYPE | functioning gene |
STRUCTURE | 62.40 kb 18 Exon(s) |
MAPPING | cloned | Y | linked | N | status | confirmed |
RNA |
TRANSCRIPTS | type | messenger |
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|
EXPRESSION |
Type | ubiquitous |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
organ(s) |
|
tissue |
|
cell lineage
cell lines
| fluid/secretion
| |
at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
conjugated | GlycoP |
isoforms | Precursor | N-acetyltransferase signal peptide is co-translationally cleaved and this event is required for its intracellular transport to the lysosome |
HOMOLOGY |
interspecies | homolog to murine Hgsnat (82.5 pc) |
Homologene |
FAMILY |
CATEGORY | enzyme |
SUBCELLULAR LOCALIZATION | intracellular |
intracellular,cytoplasm,organelle,membrane | |
intracellular,cytoplasm,organelle,lysosome | |
text |
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism |
signaling |
glycosaminoglycan metabolic process |
a component | |
8764;440-kDa oligomers |
INTERACTION |
DNA |
RNA |
small molecule |
protein |
cell & other |
REGULATION |
Other | intralysosomal oligomerization and proteolytic cleavage are two steps crucial for functional activation of HGSNAT |
ASSOCIATED DISORDERS |
corresponding disease(s) | MPS3C , RP73 |
Susceptibility |
Variant & Polymorphism
| |
Candidate gene
Marker
| Therapy target
|
| |
ANIMAL & CELL MODELS |