Gene
otulina
- ID
- ZDB-GENE-040426-2157
- Name
- OTU deubiquitinase with linear linkage specificity a
- Symbol
- otulina Nomenclature History
- Previous Names
-
- fam105ba
- wu:fj43e01
- zgc:64095
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable cysteine-type deubiquitinase activity. Predicted to be located in nucleus. Predicted to be active in cytoplasm. Is expressed in alar plate midbrain region; lens; optic tectum; retina; and solid lens vesicle. Human ortholog(s) of this gene implicated in immunodeficiency 107 and otulipenia. Orthologous to several human genes including YAE1 (YAE1 maturation factor of ABCE1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:64095 (4 images)
- IMAGE:6909406 (5 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Cheung et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la022831Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa7513 | Allele with one point mutation | Unknown | Missense | ENU | |
| zf3104 | unknown | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-otulina | Cheung et al., 2019 | |
| CRISPR2-otulina | Cheung et al., 2019 | |
| CRISPR3-otulina | Cheung et al., 2019 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome | Alliance | Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant | 621030 |
| autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome | Alliance | Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive | 617099 |
| immunodeficiency 107 | Alliance | {Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection} | 619986 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Essential protein Yae1, N-terminal | Yae1-like |
|---|---|---|---|---|
| UniProtKB:Q7T354 | InterPro | 220 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| aberrant processed transcript |
otulina-205
(1)
|
Ensembl | 931 nt | ||
| mRNA |
otulina-201
(1)
|
Ensembl | 1,268 nt | ||
| mRNA |
otulina-202
(1)
|
Ensembl | 535 nt | ||
| mRNA |
otulina-204
(1)
|
Ensembl | 3,081 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 | CH211-124O16 | ZFIN Curated Data | |
| Encodes | EST | fj43e01 | ||
| Encodes | EST | IMAGE:6909406 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:64095 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_213142 (1) | 1267 nt | ||
| Genomic | GenBank:CR391965 (1) | 183705 nt | ||
| Polypeptide | UniProtKB:Q7T354 (1) | 220 aa |
- Comparative Orthology
- Alliance
- Cheung, C.T., Nguyen, T.V., Le Cam, A., Patinote, A., Journot, L., Reynes, C., Bobe, J. (2019) What makes a bad egg? Egg transcriptome reveals dysregulation of translational machinery and novel fertility genes important for fertilization. BMC Genomics. 20:584
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- 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
- 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
- Marandel, L., Labbe, C., Bobe, J., and Le Bail, P.Y. (2012) Evolutionary history of c-myc in teleosts and characterization of the duplicated c-myca genes in goldfish embryos. Molecular reproduction and development. 72(2):85-96
- 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
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