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 |
| 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: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 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pcloa-201
(1)
|
Ensembl | 14,094 nt | ||
| mRNA |
pcloa-202
(1)
|
Ensembl | 13,853 nt | ||
| mRNA |
pcloa-203
(1)
|
Ensembl | 314 nt | ||
| mRNA |
pcloa-204
(1)
|
Ensembl | 16,050 nt | ||
| mRNA |
pcloa-205
(1)
|
Ensembl | 16,450 nt | ||
| mRNA |
pcloa-206
(1)
|
Ensembl | 16,347 nt | ||
| mRNA |
pcloa-207
(1)
|
Ensembl | 18,489 nt |
Interactions and Pathways
No data available
Plasmids
No data available