Gene
bbs4
- ID
- ZDB-GENE-060126-2
- Name
- Bardet-Biedl syndrome 4
- Symbol
- bbs4 Nomenclature History
- Previous Names
-
- zgc:152964
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Involved in cilium assembly; heart looping; and melanosome transport. Acts upstream of or within several processes, including Kupffer's vesicle development; photoreceptor cell outer segment organization; and regionalization. Predicted to be located in centriolar satellite and ciliary membrane. Predicted to be active in ciliary basal body. Is expressed in eye; eye photoreceptor cell; and photoreceptor outer segment layer. Used to study Bardet-Biedl syndrome and ciliopathy. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 4; morbid obesity; and obesity. Orthologous to human BBS4 (Bardet-Biedl syndrome 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 24 figures from 13 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-bbs4 | Lodh et al., 2016 | |
| CRISPR2-bbs4 | Tsai et al., 2019 | |
| MO1-bbs4 | N/A | (13) |
| MO2-bbs4 | N/A | (3) |
| MO3-bbs4 | N/A | (3) |
| MO4-bbs4 | N/A | (2) |
| MO5-bbs4 | N/A | Lodh et al., 2016 |
| MO6-bbs4 | N/A | Lindstrand et al., 2016 |
| TALEN1-bbs4 | Sun et al., 2024 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bardet-Biedl syndrome 4 | Alliance | Bardet-Biedl syndrome 4 | 615982 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Bardet-Biedl syndrome | AB/EKW + MO1-bbs4 | standard conditions | Wang et al., 2011 |
| ciliopathy | AB/EKW + MO1-bbs4 | standard conditions | Wang et al., 2011 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Tetratricopeptide-like helical domain superfamily | Tetratricopeptide repeat |
|---|---|---|---|---|
| UniProtKB:E7EXH4 | InterPro | 528 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-117K16 | ||
| Encodes | cDNA | MGC:191574 | ZFIN Curated Data | |
| Has Artifact | cDNA | MGC:152964 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001077466 (1) | 2383 nt | ||
| Genomic | GenBank:BX957346 (1) | 149598 nt | ||
| Polypeptide | UniProtKB:E7EXH4 (1) | 528 aa |
- Sun, Y., Chen, Z., Jin, M., Xie, H., Zhao, C. (2024) Ciliary length regulation by intraflagellar transport in zebrafish. eLIFE. 13:
- Masek, M., Etard, C., Hofmann, C., Hülsmeier, A.J., Zang, J., Takamiya, M., Gesemann, M., Neuhauss, S.C.F., Hornemann, T., Strähle, U., Bachmann-Gagescu, R. (2022) Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition. Nature communications. 13:1282
- Tsai, I.C., Adams, K.A., Tzeng, J.A., Shennib, O., Tan, P.L., Katsanis, N. (2019) Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies. JCI insight. 4(22):
- Sun, C., Galicia, C., Stenkamp, D.L. (2018) Transcripts within rod photoreceptors of the Zebrafish retina. BMC Genomics. 19:127
- Lindstrand, A., Frangakis, S., Carvalho, C.M., Richardson, E.B., McFadden, K.A., Willer, J.R., Pehlivan, D., Liu, P., Pediaditakis, I.L., Sabo, A., Lewis, R.A., Banin, E., Lupski, J.R., Davis, E.E., Katsanis, N. (2016) Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. American journal of human genetics. 99:318-336
- Lodh, S., Hostelley, T.L., Leitch, C.C., O'Hare, E.A., Zaghloul, N.A. (2016) Differential effects on β-cell mass by disruption of Bardet-Biedl Syndrome or Alstrom Syndrome genes. Human molecular genetics. 25(1):57-68
- 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
- Chamling, X., Seo, S., Searby, C.C., Kim, G., Slusarski, D.C., Sheffield, V.C. (2014) The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.. PLoS Genetics. 10(2):e1004083
- Leitch, C.C., Lodh, S., Prieto-Echagüe, V., Badano, J.L., Zaghloul, N.A. (2014) Basal body proteins regulate Notch signaling via endosomal trafficking. Journal of Cell Science. 127(Pt 11):2407-19
- Liu, Y.P., Tsai, I.C., Morleo, M., Oh, E.C., Leitch, C.C., Massa, F., Lee, B.H., Parker, D.S., Finley, D., Zaghloul, N.A., Franco, B., Katsanis, N. (2014) Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators. J. Clin. Invest.. 124(5):2059-70
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