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 act upstream of or within synapse assembly. Predicted to be located in cell projection; membrane; and presynaptic active zone. 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