Gene
gmppb
- ID
- ZDB-GENE-040801-234
- Name
- GDP-mannose pyrophosphorylase B
- Symbol
- gmppb Nomenclature History
- Previous Names
-
- cb1066 (1)
- fc79b10
- wu:fc79b10
- zgc:92026
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to have GTP binding activity and mannose-1-phosphate guanylyltransferase activity. Involved in muscle fiber development and protein glycosylation. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2T; congenital muscular dystrophy-dystroglycanopathy A14; and muscular dystrophy-dystroglycanopathy. Is expressed in several structures, including epidermis; hatching gland; pectoral fin musculature; periderm; and polster. Orthologous to human GMPPB (GDP-mannose pyrophosphorylase B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
-
- GEO (1) Expression Atlas (1) UCSC scRNA-seq (1)
- Thisse Expression Data
-
- cb1066 (8 images)
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Carss et al., 2013
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy type 2T | Alliance | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | 615352 |
| congenital muscular dystrophy-dystroglycanopathy A14 | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 | 615350 |
| muscular dystrophy-dystroglycanopathy | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 | 615351 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018357 | Hexapeptide transferase, conserved site |
| Domain | IPR005835 | Nucleotidyl transferase domain |
| Homologous_superfamily | IPR011004 | Trimeric LpxA-like superfamily |
| Homologous_superfamily | IPR029044 | Nucleotide-diphospho-sugar transferases |
| Repeat | IPR001451 | Hexapeptide repeat |
Domain Details Per Protein
| Protein | Length | Hexapeptide repeat | Hexapeptide transferase, conserved site | Nucleotide-diphospho-sugar transferases | Nucleotidyl transferase domain | Trimeric LpxA-like superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:Q6DBU5
|
360 | |||||
|
UniProtKB:B7TWQ6
|
71 | |||||
|
UniProtKB:F1R683
|
360 | |||||
|
UniProtKB:A0A2R8Q7E6
|
351 |
Interactions and Pathways
No data available
Plasmids
No data available