Gene
gan
- ID
- ZDB-GENE-121221-1
- Name
- gigaxonin
- Symbol
- gan Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Acts upstream of or within several processes, including regulation of neuromuscular junction development; regulation of somitogenesis; and spinal cord motor neuron cell fate specification. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. Is expressed in eye; heart; muscle; and notochord. Human ortholog(s) of this gene implicated in giant axonal neuropathy 1. Orthologous to human GAN (gigaxonin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Arribat et al., 2019
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 6 figures from Arribat et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| giant axonal neuropathy 1 | Alliance | Giant axonal neuropathy-1 | 256850 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000210 | BTB/POZ domain |
| Domain | IPR011705 | BTB/Kelch-associated |
| Domain | IPR030579 | Gigaxonin, BACK domain |
| Domain | IPR047070 | Gigaxonin, BTB/POZ domain |
| Family | IPR017096 | BTB-kelch protein |
| Homologous_superfamily | IPR011333 | SKP1/BTB/POZ domain superfamily |
| Homologous_superfamily | IPR015915 | Kelch-type beta propeller |
| Repeat | IPR006652 | Kelch repeat type 1 |
Domain Details Per Protein
| Protein | Additional Resources | Length | BTB/Kelch-associated | BTB-kelch protein | BTB/POZ domain | Gigaxonin, BACK domain | Gigaxonin, BTB/POZ domain | Kelch repeat type 1 | Kelch-type beta propeller | SKP1/BTB/POZ domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A2I4KBP1 | InterPro | 609 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available