Gene
hgsnat
- ID
- ZDB-GENE-140106-144
- Name
- heparan-alpha-glucosaminide N-acetyltransferase
- Symbol
- hgsnat Nomenclature History
- Previous Names
-
- zmp:0000001184 (1)
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable heparan-alpha-glucosaminide N-acetyltransferase activity. Predicted to be located in lysosomal membrane. Human ortholog(s) of this gene implicated in mucopolysaccharidosis type IIIC and retinitis pigmentosa 73. Orthologous to human HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| mucopolysaccharidosis type IIIC | Alliance | Mucopolysaccharidosis type IIIC (Sanfilippo C) | 252930 |
| retinitis pigmentosa 73 | Alliance | Retinitis pigmentosa 73 | 616544 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR012429 | Heparan-alpha-glucosaminide N-acetyltransferase, catalytic domain |
Domain Details Per Protein
| Protein | Length | Heparan-alpha-glucosaminide N-acetyltransferase, catalytic domain |
|---|---|---|
|
UniProtKB:F1Q893
|
643 | |
|
UniProtKB:A0A8M2B716
|
578 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
hgsnat-201
(1)
|
Ensembl | 6,059 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance