Gene
ubap1
- ID
- ZDB-GENE-040426-950
- Name
- ubiquitin associated protein 1
- Symbol
- ubap1 Nomenclature History
- Previous Names
-
- zgc:56228
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to enable ubiquitin binding activity. Acts upstream of or within axon extension. Predicted to be located in cytosol and endosome. Predicted to be part of ESCRT I complex. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 80. Orthologous to human UBAP1 (ubiquitin associated protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:56228 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Targeting Reagent | Created Alleles | Citations |
---|---|---|
MO1-ubap1 | N/A | Seiler et al., 2015 |
MO2-ubap1 | N/A | Lin et al., 2019 |
MO3-ubap1 | N/A | Lin et al., 2019 |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
hereditary spastic paraplegia 80 | Alliance | Spastic paraplegia 80, autosomal dominant | 618418 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | UBA-like superfamily | Ubiquitin-associated domain | Ubiquitin-associated protein 1 | Ubiquitin-associated protein 1, C-terminal | Ubiquitin-associated protein 1-like, UBA2 domain | UMA domain |
---|---|---|---|---|---|---|---|---|
UniProtKB:F6P6X0 | InterPro | 453 |
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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 | DKEY-89G21 | ZFIN Curated Data | |
Encodes | cDNA | MGC:56228 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001328344 (1) | 2395 nt | ||
Genomic | GenBank:CU694487 (1) | 108482 nt | ||
Polypeptide | UniProtKB:F6P6X0 (1) | 453 aa |
- Lin, X., Su, H.Z., Dong, E.L., Lin, X.H., Zhao, M., Yang, C., Wang, C., Wang, J., Chen, Y.J., Yu, H., Xu, J., Ma, L.X., Xiong, Z.Q., Wang, N., Chen, W.J. (2019) Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia. Brain : a journal of neurology. 142(8):2238-2252
- 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
- Seiler, C., Gebhart, N., Zhang, Y., Shinton, S.A., Li, Y.S., Ross, N.L., Liu, X., Li, Q., Bilbee, A.N., Varshney, G.K., LaFave, M.C., Burgess, S.M., Balciuniene, J., Balciunas, D., Hardy, R.R., Kappes, D.J., Wiest, D.L., Rhodes, J. (2015) Mutagenesis Screen Identifies agtpbp1 and eps15L1 as Essential for T lymphocyte Development in Zebrafish. PLoS One. 10:e0131908
- 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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