Gene
gmppaa
- ID
- ZDB-GENE-040704-37
- Name
- GDP-mannose pyrophosphorylase Aa
- Symbol
- gmppaa Nomenclature History
- Previous Names
-
- zgc:91853
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to enable GTP binding activity and mannose-1-phosphate guanylyltransferase (GTP) activity. Predicted to be involved in GDP-mannose biosynthetic process. Predicted to act upstream of or within biosynthetic process. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in alacrima, achalasia, and impaired intellectual development syndrome. Orthologous to human GMPPA (GDP-mannose pyrophosphorylase A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
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 |
|---|---|---|---|
| alacrima, achalasia, and impaired intellectual development syndrome | Alliance | Alacrima, achalasia, and impaired intellectual development syndrome | 615510 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Hexapeptide repeat | Hexapeptide transferase, conserved site | Mannose-1-phosphate guanyltransferase | Nucleotide-diphospho-sugar transferases | Nucleotidyl transferase domain |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A286Y8P7
|
427 | |||||
|
UniProtKB:Q6GMK8
|
422 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
gmppaa-201
(1)
|
Ensembl | 3,142 nt | ||
| mRNA |
gmppaa-202
(1)
|
Ensembl | 3,127 nt |
Interactions and Pathways
No data available
Plasmids
No data available