ZFIN is now using GRCz12tu for Genomic Data
Gene
cavin1b
- ID
- ZDB-GENE-030131-5509
- Name
- caveolae associated protein 1b
- Symbol
- cavin1b Nomenclature History
- Previous Names
-
- fd20g07
- ptrf
- ptrfb
- wu:fd20g07
- zgc:162917
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable rRNA primary transcript binding activity. Acts upstream of or within notochord development. Predicted to be located in membrane. Predicted to be active in caveola and cytoplasm. Is expressed in blood vasculature; notochord; otic vesicle; and pharyngeal arch 3-7 skeleton. Human ortholog(s) of this gene implicated in congenital generalized lipodystrophy type 4. Orthologous to human CAVIN1 (caveolae associated protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 12 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| bns110 | Allele with one deletion | Unknown | Premature Stop | CRISPR | |
| sa37823 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| uq7rp | Allele with one insertion | Unknown | Frameshift, Premature Stop | CRISPR | |
| uq8rp | Allele with one deletion | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-cavin1b | (2) | |
| CRISPR2-cavin1b | (3) | |
| MO1-cavin1b | N/A | (3) |
| MO2-cavin1b | N/A | Hill et al., 2008 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital generalized lipodystrophy type 4 | Alliance | Lipodystrophy, congenital generalized, type 4 | 613327 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR026752 | Cavin family |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Cavin family |
|---|---|---|---|
| UniProtKB:A6NA21 | InterPro | 454 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cavin1b-201
(1)
|
Ensembl | 1,432 nt | ||
| mRNA |
cavin1b-202
(1)
|
Ensembl | 1,307 nt | ||
| mRNA |
cavin1b-203
(1)
|
Ensembl | 2,298 nt |
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Interactions and Pathways
No data available
Plasmids
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(hsp70l:cavin1b_K291Q_K293Q_K298Q-MYC-EGFP,myl7:EGFP) |
| 1 | Zhou et al., 2017 | ||
| Tg(hsp70l:cavin1b-MYC-EGFP,myl7:EGFP) |
| 1 | Zhou et al., 2017 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-232L14 | ZFIN Curated Data | |
| Contained in | BAC | DKEYP-64F6 | ZFIN Curated Data | |
| Encodes | EST | fd20g07 | ||
| Encodes | cDNA | MGC:162917 | ZFIN Curated Data |
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| Type | Accession # | Genome Assembly | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001114549 (1) | 1855 nt | ||
| Genomic | GenBank:BX294185 (2) | 115427 nt | ||
| Polypeptide | UniProtKB:A6NA21 (1) | 454 aa |
- Wu, Y., Lim, Y.W., Stroud, D.A., Martel, N., Hall, T.E., Lo, H.P., Ferguson, C., Ryan, M.T., McMahon, K.A., Parton, R.G. (2023) Caveolae sense oxidative stress through membrane lipid peroxidation and cytosolic release of CAVIN1 to regulate NRF2. Developmental Cell. 58(5):376-397.e4
- Lo, H.P., Lim, Y.W., Xiong, Z., Martel, N., Ferguson, C., Ariotti, N., Giacomotto, J., Rae, J., Floetenmeyer, M., Moradi, S.V., Gao, Y., Tillu, V.A., Xia, D., Wang, H., Rahnama, S., Nixon, S.J., Bastiani, M., Day, R.D., Smith, K.A., Palpant, N.J., Johnston, W.A., Alexandrov, K., Collins, B.M., Hall, T.E., Parton, R.G. (2021) Cavin4 interacts with Bin1 to promote T-tubule formation and stability in developing skeletal muscle. The Journal of cell biology. 220(12)
- Grivas, D., González-Rajal, Á., Guerrero Rodríguez, C., Garcia, R., de la Pompa, J.L. (2020) Loss of Caveolin-1 and caveolae leads to increased cardiac cell stiffness and functional decline of the adult zebrafish heart. Scientific Reports. 10:12816
- Norman, J., Sorrell, E.L., Hu, Y., Siripurapu, V., Garcia, J., Bagwell, J., Charbonneau, P., Lubkin, S.R., Bagnat, M. (2018) Tissue self-organization underlies morphogenesis of the notochord. Philosophical transactions of the Royal Society of London. Series B, Biological sciences. 373(1759):
- Tillu, V.A., Lim, Y.W., Kovtun, O., Mureev, S., Ferguson, C., Bastiani, M., McMahon, K.A., Lo, H.P., Hall, T.E., Alexandrov, K., Collins, B.M., Parton, R.G. (2018) A variable undecad repeat domain in cavin1 regulates caveola formation and stability. EMBO reports. 19(9):
- Garcia, J., Bagwell, J., Njaine, B., Norman, J., Levic, D.S., Wopat, S., Miller, S.E., Liu, X., Locasale, J.W., Stainier, D.Y.R., Bagnat, M. (2017) Sheath Cell Invasion and Trans-differentiation Repair Mechanical Damage Caused by Loss of Caveolae in the Zebrafish Notochord. Current biology : CB. 27(13):1982-1989.e3
- Lim, Y.W., Lo, H.P., Ferguson, C., Martel, N., Giacomotto, J., Gomez, G.A., Yap, A.S., Hall, T.E., Parton, R.G. (2017) Caveolae Protect Notochord Cells against Catastrophic Mechanical Failure during Development. Current biology : CB. 27(13):1968-1981.e7
- Zhou, S.R., Guo, L., Wang, X., Liu, Y., Peng, W.Q., Liu, Y., Wei, X.B., Dou, X., Ding, M., Lei, Q.Y., Qian, S.W., Li, X., Tang, Q.Q. (2017) Acetylation of Cavin-1 Promotes Lipolysis in White Adipose Tissue. Molecular and cellular biology. 37(16):e00058-17
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- 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
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