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 be a structural constituent of presynaptic active zone. Predicted to be involved in presynaptic active zone assembly and protein localization to synapse. Predicted to be located in cell projection; membrane; and synapse. Predicted to be active in several cellular components, including GABA-ergic synapse; cytoskeleton of presynaptic active zone; and glutamatergic synapse. Is expressed in brain; cerebellum; hindbrain; and torus longitudinalis. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 3. 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