Gene
exosc5
- ID
- ZDB-GENE-060503-675
- Name
- exosome component 5
- Symbol
- exosc5 Nomenclature History
- Previous Names
-
- si:ch211-194n6.2
- zgc:153707
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to enable RNA binding activity. Acts upstream of or within brain development. Predicted to be part of cytoplasmic exosome (RNase complex) and nuclear exosome (RNase complex). Predicted to be active in nucleolus. Orthologous to human EXOSC5 (exosome component 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Cabrera-Quio et al., 2021
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Slavotinek et al., 2020
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| s4003 | Allele with one delins | Unknown | Frameshift, Premature Stop | CRISPR | |
| s4004 | Allele with one delins | Exon 2 | Unknown | CRISPR | |
| s4005 | Allele with one delins | Exon 2 | Frameshift, Premature Stop | CRISPR | |
| sa45645 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Cerebellar ataxia, brain abnormalities, and cardiac conduction defects | 619576 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001247 | Exoribonuclease, phosphorolytic domain 1 |
| Domain | IPR015847 | Exoribonuclease, phosphorolytic domain 2 |
| Family | IPR050080 | Ribonuclease PH |
| Homologous_superfamily | IPR020568 | Ribosomal protein uS5 domain 2-type superfamily |
| Homologous_superfamily | IPR027408 | PNPase/RNase PH domain superfamily |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Exoribonuclease, PH domain 2 superfamily | Exoribonuclease, phosphorolytic domain 1 | Exoribonuclease, phosphorolytic domain 2 | PNPase/RNase PH domain superfamily | Ribonuclease PH | Ribosomal protein uS5 domain 2-type superfamily |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M1NAS6 | InterPro | 230 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
exosc5-201
(1)
|
Ensembl | 705 nt | ||
| mRNA |
exosc5-202
(1)
|
Ensembl | 486 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 | CH211-194N6 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:153707 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191490 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001045352 (1) | 726 nt | ||
| Genomic | GenBank:BX247864 (1) | 208758 nt | ||
| Polypeptide | UniProtKB:A0A8M1NAS6 (1) | 230 aa |
- Kubra, K., Gaddu, G.K., Liongue, C., Heidary, S., Ward, A.C., Dhillon, A.S., Basheer, F. (2022) Phylogenetic and Expression Analysis of Fos Transcription Factors in Zebrafish. International Journal of Molecular Sciences. 23(17)
- Cabrera-Quio, L.E., Schleiffer, A., Mechtler, K., Pauli, A. (2021) Zebrafish Ski7 tunes RNA levels during the oocyte-to-embryo transition. PLoS Genetics. 17:e1009390
- Slavotinek, A., Misceo, D., Htun, S., Mathisen, L., Frengen, E., Foreman, M., Hurtig, J.E., Enyenihi, L., Sterrett, M.C., Leung, S.W., Schneidman-Duhovny, D., Estrada-Veras, J., Duncan, J.L., Haaxma, C.A., Kamsteeg, E.J., Xia, V., Beleford, D., Si, Y., Douglas, G., Treidene, H.E., van Hoof, A., Fasken, M.B., Corbett, A.H. (2020) Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness. Human molecular genetics. 29:2218-2239
- 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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