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 have heparan-alpha-glucosaminide N-acetyltransferase activity. Predicted to localize to integral component of membrane and 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