PCLO - piccolo presynaptic cytomatrix protein Gene
Also Known as ACZ; PCH3
生物種: Homo sapiens
About PCLO
This gene has 9 transcripts (splice variants), 315 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in brain (RPKM 4.9), adrenal (RPKM 1.4) and 9 other tissues.
Summary
The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PCLO Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_014510.3 | NP_055325.2 | protein piccolo isoform 2 |
| NM_033026.6 | NP_149015.2 | protein piccolo isoform 1 |
PCLO Protein Structure
zf-piccolo: Piccolo Zn-finger (586 - 646)
zf-piccolo: Piccolo Zn-finger (1057 - 1115)
PDZ: PDZ domain (Also known as DHR or GLGF) (4509 - 4583)
C2: C2 domain (4709 - 4806)
C2: C2 domain (5026 - 5116)
- 0
- 800
- 1600
- 2400
- 3200
- 4000
- 4800
- 5142 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
protein piccolo |
|
関連疾患
| Diseases | Alias | |
|---|---|---|
| Pontocerebellar Hypoplasia, Type 3 |
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| Pontocerebellar Hypoplasia |
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| Major Depressive Disorder |
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| Bipolar Disorder |
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| Occupational Dermatitis |
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| N1 Diffuse Large B-Cell Lymphoma |
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| Detrusor Sphincter Dyssynergia |
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| Pontocerebellar Hypoplasia, Type 1e |
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| Peho Syndrome |
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| Pontocerebellar Hypoplasia, Type 2e |
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| Microcephaly |
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Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Macaca mulatta | PCLO | VGNC | VGNC:75595 |
| Felis catus | PCLO | VGNC | VGNC:80649 |
| Rattus norvegicus | PCLO | RGD | RGD:69406 |
| Bos taurus | PCLO | VGNC | VGNC:32633 |
| Mus musculus | PCLO | MGD | MGI:1349390 |
| Canis familiaris | PCLO | VGNC | VGNC:58325 |
| Others | PCLO | NCBI |