Gene
pclob
- ID
- ZDB-GENE-030131-8100
- Name
- piccolo presynaptic cytomatrix protein b
- Symbol
- pclob Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to have metal ion binding activity. Predicted to be involved in synapse assembly. Predicted to localize to membrane and presynaptic active zone. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 3. Is expressed in brain; cerebellum; hindbrain; and torus longitudinalis. Orthologous to human PCLO (piccolo presynaptic cytomatrix protein).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 1 figure from Nonet, 2012
- 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 |
---|---|---|---|
pontocerebellar hypoplasia type 3 | Alliance | Pontocerebellar hypoplasia, type 3 | 608027 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR000008 | C2 domain |
Domain | IPR001478 | PDZ domain |
Domain | IPR001565 | Synaptotagmin |
Domain | IPR008899 | Zinc finger, piccolo-type |
Family | IPR052098 | Presynaptic Scaffold Protein Bassoon/Piccolo |
Homologous_superfamily | IPR011011 | Zinc finger, FYVE/PHD-type |
Homologous_superfamily | IPR013083 | Zinc finger, RING/FYVE/PHD-type |
Homologous_superfamily | IPR035892 | C2 domain superfamily |
Homologous_superfamily | IPR036034 | PDZ superfamily |
Domain Details Per Protein
Protein | Length | C2 domain | C2 domain superfamily | PDZ domain | PDZ superfamily | Presynaptic Scaffold Protein Bassoon/Piccolo | Synaptotagmin | Zinc finger, FYVE/PHD-type | Zinc finger, piccolo-type | Zinc finger, RING/FYVE/PHD-type |
---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M6YW34
|
9346 | |||||||||
UniProtKB:A0A8M9PFP9
|
9337 | |||||||||
UniProtKB:A0A0R4IGI4
|
9346 | |||||||||
UniProtKB:A0A8M3AJG6
|
9355 | |||||||||
UniProtKB:A0A8M6YTM4
|
7373 |
Interactions and Pathways
No data available
Plasmids
No data available