Gene
ufsp2
- ID
- ZDB-GENE-030131-8726
- Name
- ufm1-specific peptidase 2
- Symbol
- ufsp2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable deUFMylase activity. Predicted to be involved in proteolysis and ribosome disassembly. Predicted to be located in cytoplasm. Predicted to be active in endoplasmic reticulum and nucleus. Is expressed in hatching gland; myotome; notochord; polster; and segmental plate. Human ortholog(s) of this gene implicated in Beukes hip dysplasia and developmental and epileptic encephalopathy 106. Orthologous to human UFSP2 (UFM1 specific peptidase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from Thisse et al., 2001
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb891 (6 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-ufsp2 | China Zebrafish Resource Center (CZRC) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Beukes hip dysplasia | Alliance | ?Hip dysplasia, Beukes type | 142669 |
| developmental and epileptic encephalopathy 106 | Alliance | Developmental and epileptic encephalopathy 106 | 620028 |
| Spondyloepimetaphyseal dysplasia, Di Rocco type | 617974 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Ubiquitin-fold modifier 1 specific protease 2-like, N-terminal | UfSP1/2/DUB, catalytic domain |
|---|---|---|---|---|
| UniProtKB:Q7T347 | InterPro | 401 | ||
| UniProtKB:B8JIG4 | InterPro | 466 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-256E7 | ZFIN Curated Data | |
| Encodes | EST | cb891 | Thisse et al., 2001 | |
| Encodes | EST | fb05c06 | ||
| Encodes | EST | fk89d04 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:64113 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_198810 (1) | 1775 nt | ||
| Genomic | GenBank:BX950183 (1) | 200179 nt | ||
| Polypeptide | UniProtKB:B8JIG4 (1) | 466 aa |
- Zhang, Y., O'Leary, M.N., Peri, S., Wang, M., Zha, J., Melov, S., Kappes, D.J., Feng, Q., Rhodes, J., Amieux, P.S., Morris, D.R., Kennedy, B.K., Wiest, D.L. (2017) Ribosomal Proteins Rpl22 and Rpl22l1 Control Morphogenesis by Regulating Pre-mRNA Splicing. Cell Reports. 18:545-556
- 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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