Gene
pcloa
- ID
- ZDB-GENE-030131-8115
- Name
- piccolo presynaptic cytomatrix protein a
- Symbol
- pcloa Nomenclature History
- Previous Names
-
- si:dkey-108d22.4
- wu:fj53e09
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Predicted to have metal ion binding activity. Predicted to localize to membrane and synapse. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 3. Is expressed in brain; cerebellum; telencephalon; 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 |
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 | Synaptotagmin | Zinc finger, FYVE/PHD-type | Zinc finger, piccolo-type | Zinc finger, RING/FYVE/PHD-type |
---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M9Q6A8
|
4140 | ||||||||
UniProtKB:A0A8M9PHT7
|
4281 | ||||||||
UniProtKB:A0A8M9PQR0
|
4092 | ||||||||
UniProtKB:A0A8M6Z649
|
4290 | ||||||||
UniProtKB:A0A8M9PV22
|
4250 | ||||||||
UniProtKB:A0A8M3B1P0
|
4313 | ||||||||
UniProtKB:A0A8M9PJR5
|
4101 | ||||||||
UniProtKB:A0A8M3AYQ2
|
4248 | ||||||||
UniProtKB:A0A8M6YZR5
|
4304 | ||||||||
UniProtKB:A0A8M9Q1E5
|
4078 | ||||||||
UniProtKB:A0A8M9Q115
|
4194 | ||||||||
UniProtKB:A0A8M6YX87
|
4259 | ||||||||
UniProtKB:A0A8M6Z5J4
|
4196 |
Interactions and Pathways
No data available
Plasmids
No data available