Gene
cavin1a
- ID
- ZDB-GENE-091204-151
- Name
- caveolae associated protein 1a
- Symbol
- cavin1a Nomenclature History
- Previous Names
-
- ptrfa
- si:ch211-209d14.2
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- A structural constituent of muscle. Predicted to be involved in termination of RNA polymerase I transcription and transcription initiation at RNA polymerase I promoter. Predicted to be located in membrane. Predicted to be active in caveola and cytoplasm. Is expressed in myotome. 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
- 1 figure from Lo et al., 2015
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Lo et al., 2015
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-cavin1a | Wu et al., 2023 | |
| CRISPR2-cavin1a | Štefl et al., 2024 | |
| CRISPR3-cavin1a | Štefl et al., 2024 | |
| MO1-cavin1a | N/A | Lo et al., 2015 |
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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:E7F0K3 | InterPro | 415 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cavin1a-201
(1)
|
Ensembl | 2,156 nt |
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Interactions and Pathways
No data available
Plasmids
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(actc1b:cavin1a-mClover) |
|
| 1 | (2) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-209D14 | ZFIN Curated Data | |
| Contained in | BAC | CH211-222D3 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_001920667 (1) | |||
| Genomic | GenBank:BX470185 (1) | 198900 nt | ||
| Polypeptide | UniProtKB:E7F0K3 (1) | 415 aa |
- Štefl, M., Takamiya, M., Middel, V., Tekpınar, M., Nienhaus, K., Beil, T., Rastegar, S., Strähle, U., Nienhaus, G.U. (2024) Caveolae disassemble upon membrane lesioning and foster cell survival. iScience. 27:108849108849
- 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)
- Xiong, Z., Lo, H.P., McMahon, K.A., Martel, N., Jones, A., Hill, M.M., Parton, R.G., Hall, T.E. (2021) In vivo proteomic mapping through GFP-directed proximity-dependent biotin labelling in zebrafish. eLIFE. 10:
- 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):
- 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
- 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
- Lo, H.P., Nixon, S.J., Hall, T.E., Cowling, B.S., Ferguson, C., Morgan, G.P., Schieber, N.L., Fernandez-Rojo, M.A., Bastiani, M., Floetenmeyer, M., Martel, N., Laporte, J., Pilch, P.F., Parton, R.G. (2015) The caveolin-cavin system plays a conserved and critical role in mechanoprotection of skeletal muscle. The Journal of cell biology. 210:833-49
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