Gene
gnptab
- ID
- ZDB-GENE-030131-4714
- Name
- N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
- Symbol
- gnptab Nomenclature History
- Previous Names
-
- si:ch211-234f20.3
- wu:fd55d09
- zgc:122985
- zgc:158502
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Enables UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. Involved in N-glycan processing to lysosome. Acts upstream of or within heart morphogenesis and skeletal system development. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. Used to study congenital heart disease; mucolipidosis; and mucolipidosis II alpha/beta. Human ortholog(s) of this gene implicated in mucolipidosis II alpha/beta and mucolipidosis III alpha/beta. Orthologous to human GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Lu et al., 2020
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 26 figures from 9 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| mucolipidosis II alpha/beta | Alliance | Mucolipidosis II alpha/beta | 252500 |
| mucolipidosis III alpha/beta | Alliance | Mucolipidosis III alpha/beta | 252600 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR018247 | EF-Hand 1, calcium-binding site |
| Domain | IPR000800 | Notch domain |
| Domain | IPR002048 | EF-hand domain |
| Domain | IPR010506 | DMAP1-binding domain |
| Domain | IPR021520 | Stealth protein CR2, conserved region 2 |
| Domain | IPR031356 | Stealth protein CR4, conserved region 4 |
| Domain | IPR031357 | Stealth protein CR3, conserved region 3 |
| Domain | IPR031358 | Stealth protein CR1, conserved region 1 |
| Domain | IPR041536 | N-acetylglucosamine-1-phosphotransferase subunit alpha/beta, regulatory domain |
| Family | IPR047141 | Stealth family |
| Homologous_superfamily | IPR035993 | Notch-like domain superfamily |
Domain Details Per Protein
| Protein | Length | DMAP1-binding domain | EF-Hand 1, calcium-binding site | EF-hand domain | N-acetylglucosamine-1-phosphotransferase subunit alpha/beta, regulatory domain | Notch domain | Notch-like domain superfamily | Stealth family | Stealth protein CR1, conserved region 1 | Stealth protein CR2, conserved region 2 | Stealth protein CR3, conserved region 3 | Stealth protein CR4, conserved region 4 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q5RGJ8
|
1219 | |||||||||||
|
UniProtKB:A0A8M2BBZ0
|
1222 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| aberrant processed transcript |
gnptab-202
(1)
|
Ensembl | 2,496 nt | ||
| mRNA |
gnptab-201
(1)
|
Ensembl | 4,202 nt | ||
| mRNA |
gnptab-203
(1)
|
Ensembl | 4,815 nt | ||
| ncRNA |
gnptab-002
(1)
|
Ensembl | 549 nt |
Interactions and Pathways
No data available
Plasmids
No data available