Gene
poc5
- ID
- ZDB-GENE-060526-135
- Name
- POC5 centriolar protein homolog (Chlamydomonas)
- Symbol
- poc5 Nomenclature History
- Previous Names
-
- si:ch211-254o18.1
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Acts upstream of or within eye photoreceptor cell development and visual behavior. Located in photoreceptor connecting cilium. Is expressed in brain; head; oocyte; photoreceptor cell; and tail bud. Used to study retinitis pigmentosa. Orthologous to human POC5 (POC5 centriolar protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| retinitis pigmentosa | TL + MO3-poc5 | standard conditions | Weisz Hubshman et al., 2017 |
| retinitis pigmentosa | TL + MO4-poc5 | standard conditions | Weisz Hubshman et al., 2017 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR033351 | Centrosomal protein POC5 |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Centrosomal protein POC5 |
|---|---|---|---|
| UniProtKB:B0S5R1 | InterPro | 567 | |
| UniProtKB:A0A8M2BCI3 | InterPro | 566 |
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- Genome Browsers
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-poc5 | polyclonal | IgG | Rabbit |
|
Bethyl Laboratories, Inc.
|
2 |
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Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-254O18 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_005165248 (1) | |||
| Genomic | GenBank:BX294131 (1) | 164141 nt | ||
| Polypeptide | UniProtKB:B0S5R1 (1) | 567 aa |
- Casey, M.A., Hill, J.T., Hoshijima, K., Bryan, C.D., Gribble, S.L., Brown, J.T., Chien, C.B., Yost, H.J., Kwan, K.M. (2021) Shutdown corner, a large deletion mutant isolated from a haploid mutagenesis screen in zebrafish. G3 (Bethesda). 12(3):
- Weisz Hubshman, M., Broekman, S., van Wijk, E., Cremers, F., Abu-Diab, A., Samer, K., Tzur, S., Lagovsky, I., Smirin-Yosef, P., Sharon, D., Haer-Wigman, L., Banin, E., Basel-Vanagaite, L., de Vrieze, E. (2017) Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa. Human molecular genetics. 27(4):614-624
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Patten, S.A., Margaritte-Jeannin, P., Bernard, J.C., Alix, E., Labalme, A., Besson, A., Girard, S.L., Fendri, K., Fraisse, N., Biot, B., Poizat, C., Campan-Fournier, A., Abelin-Genevois, K., Cunin, V., Zaouter, C., Liao, M., Lamy, R., Lesca, G., Menassa, R., Marcaillou, C., Letexier, M., Sanlaville, D., Berard, J., Rouleau, G.A., Clerget-Darpoux, F., Drapeau, P., Moldovan, F., Edery, P. (2015) Functional variants of POC5 identified in patients with idiopathic scoliosis. J. Clin. Invest.. 125(3):1124-8
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