Gene
unc45a
- ID
- ZDB-GENE-050417-158
- Name
- unc-45 myosin chaperone A
- Symbol
- unc45a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Acts upstream of or within several processes, including angiogenesis; cartilage development; and regulation of microvillus length. Predicted to be located in cytoplasm. Is expressed in brain; digestive system; head; polster; and presumptive neural retina. Orthologous to human UNC45A (unc-45 myosin chaperone A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7157819 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la028731Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa15522 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa18626 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa44243 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| t23758 | unknown | Unknown | Unknown | ENU | |
| tr12 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-unc45a | N/A | Anderson et al., 2008 |
| MO2-unc45a | N/A | Anderson et al., 2008 |
| MO3-unc45a | N/A | Esteve et al., 2018 |
| MO4-unc45a | N/A | O'Meara et al., 2021 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Osteootohepatoenteric syndrome | 619377 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Homologous_superfamily | IPR011989 | Armadillo-like helical |
| Homologous_superfamily | IPR011990 | Tetratricopeptide-like helical domain superfamily |
| Homologous_superfamily | IPR016024 | Armadillo-type fold |
| Repeat | IPR013105 | Tetratricopeptide repeat 2 |
| Repeat | IPR019734 | Tetratricopeptide repeat |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Armadillo-like helical | Armadillo-type fold | Tetratricopeptide-like helical domain superfamily | Tetratricopeptide repeat | Tetratricopeptide repeat 2 |
|---|---|---|---|---|---|---|---|
| UniProtKB:Q567I0 | InterPro | 218 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| aberrant processed transcript |
unc45a-201
(1)
|
Ensembl | 3,313 nt | ||
| mRNA |
unc45a-202
(1)
|
Ensembl | 995 nt | ||
| mRNA |
unc45a-203
(1)
|
Ensembl | 3,286 nt | ||
| mRNA |
unc45a-205
(1)
|
Ensembl | 997 nt | ||
| ncRNA |
unc45a-003
(1)
|
Ensembl | 675 nt |
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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 | CH211-107J19 | ZFIN Curated Data | |
| Contained in | BAC | XX-BY95K20 | Anderson et al., 2008 | |
| Encodes | EST | IMAGE:7157819 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:112031 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001017671 (1) | 1014 nt | ||
| Genomic | GenBank:AL935028 | 78340 nt | ||
| Polypeptide | UniProtKB:Q567I0 (1) | 218 aa |
- Duclaux-Loras, R., Lebreton, C., Berthelet, J., Charbit-Henrion, F., Nicolle, O., Revenu de Courtils, C., Waich, S., Valovka, T., Khiat, A., Rabant, M., Racine, C., Guerrera, I.C., Baptista, J., Mahe, M.M., Hess, M.W., Durel, B., Lefort, N., Banal, C., Parisot, M., Talbotec, C., Lacaille, F., Ecochard-Dugelay, E., Demir, A.M., Vogel, G.F., Faivre, L., Rodrigues, A., Fowler, D., Janecke, A.R., Müller, T., Huber, L.A., Rodrigues-Lima, F., Ruemmele, F.M., Uhlig, H.H., Del Bene, F., Michaux, G., Cerf-Bensussan, N., Parlato, M. (2022) UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking. The Journal of Clinical Investigation. 132(10):
- O'Meara, C.P., Guerri, L., Lawir, D.F., Mateos, F., Iconomou, M., Iwanami, N., Soza-Ried, C., Sikora, K., Siamishi, I., Giorgetti, O., Peter, S., Schorpp, M., Boehm, T. (2021) Genetic landscape of T cells identifies synthetic lethality for T-ALL. Communications biology. 4:1201
- Esteve, C., Francescatto, L., Tan, P.L., Bourchany, A., De Leusse, C., Marinier, E., Blanchard, A., Bourgeois, P., Brochier-Armanet, C., Bruel, A.L., Delarue, A., Duffourd, Y., Ecochard-Dugelay, E., Hery, G., Huet, F., Gauchez, P., Gonzales, E., Guettier-Bouttier, C., Komuta, M., Lacoste, C., Maudinas, R., Mazodier, K., Rimet, Y., Rivière, J.B., Roquelaure, B., Sigaudy, S., Stephenne, X., Thauvin-Robinet, C., Thevenon, J., Sarles, J., Levy, N., Badens, C., Goulet, O., Hugot, J.P., Katsanis, N., Faivre, L., Fabre, A. (2018) Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility. American journal of human genetics. 102:364-374
- Hansen, L., Comyn, S., Mang, Y., Lind-Thomsen, A., Myhre, L., Jean, F., Eiberg, H., Tommerup, N., Rosenberg, T., Pilgrim, D. (2014) The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract.. European journal of human genetics : EJHG. 22(11):1290-7
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Comyn, S.A., and Pilgrim, D. (2012) Lack of Developmental Redundancy between Unc45 Proteins in Zebrafish Muscle Development. PLoS One. 7(11):e48861
- Anderson, M.J., Pham, V.N., Vogel, A.M., Weinstein, B.M., and Roman, B.L. (2008) Loss of unc45a precipitates arteriovenous shunting in the aortic arches. Developmental Biology. 318(2):258-267
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
- Chen, J.N., Haffter, P., Odenthal, J., Vogelsang, E., Brand, M., van Eeden, F.J., Furutani-Seiki, M., Granato, M., Hammerschmidt, M., Heisenberg, C.P., Jiang, Y.J., Kane, D.A., Kelsh, R.N., Mullins, M.C., and Nüsslein-Volhard, C. (1996) Mutations affecting the cardiovascular system and other internal organs in zebrafish. Development (Cambridge, England). 123:293-302
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