Gene
ppm1kb
- ID
- ZDB-GENE-050306-8
- Name
- protein phosphatase, Mg2+/Mn2+ dependent 1Kb
- Symbol
- ppm1kb Nomenclature History
- Previous Names
-
- pp2cm (1)
- ppm1k
- im:6912645
- zgc:113207
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable protein serine/threonine phosphatase activity. Acts upstream of or within several processes, including digestive tract development; liver development; and pancreas development. Predicted to be located in mitochondrial matrix. Predicted to be active in mitochondrion. Is expressed in brain; heart; liver; neural tube; and trunk musculature. Human ortholog(s) of this gene implicated in maple syrup urine disease. Orthologous to human PPM1K (protein phosphatase, Mg2+/Mn2+ dependent 1K).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6912645 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Lu et al., 2007
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-ppm1kb | Zebrafish Nomenclature Committee | |
| CRISPR2-ppm1kb | (2) | |
| MO1-ppm1kb | N/A | Lu et al., 2007 |
| MO2-ppm1kb | N/A | Lu et al., 2007 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| maple syrup urine disease | Alliance | Maple syrup urine disease, mild variant | 615135 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | PPM-type phosphatase, divalent cation binding | PPM-type phosphatase-like domain | PPM-type phosphatase-like domain superfamily | Protein phosphatase 2C |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2B6X8 | InterPro | 242 | ||||
| UniProtKB:F6PA41 | InterPro | 188 | ||||
| UniProtKB:A0A8M1P874 | InterPro | 372 |
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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 | CH73-190M4 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-192D9 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:6912645 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:113207 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001327744 (1) | 3460 nt | ||
| Genomic | GenBank:CR788312 (1) | 177966 nt | ||
| Polypeptide | UniProtKB:A0A8M1P874 (1) | 372 aa |
- Sun, Y., Zhang, B., Luo, L., Shi, D.L., Wang, H., Cui, Z., Huang, H., Cao, Y., Shu, X., Zhang, W., Zhou, J., Li, Y., Du, J., Zhao, Q., Chen, J., Zhong, H., Zhong, T.P., Li, L., Xiong, J.W., Peng, J., Xiao, W., Zhang, J., Yao, J., Yin, Z., Mo, X., Peng, G., Zhu, J., Chen, Y., Zhou, Y., Liu, D., Pan, W., Zhang, Y., Ruan, H., Liu, F., Zhu, Z., Meng, A., ZAKOC Consortium (2019) Systematic genome editing of the genes on zebrafish Chromosome 1 by CRISPR/Cas9. Genome research. 30(1):118-26
- 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
- Briolat, V., Jouneau, L., Carvalho, R., Palha, N., Langevin, C., Herbomel, P., Schwartz, O., Spaink, H.P., Levraud, J.P., Boudinot, P. (2014) Contrasted Innate Responses to Two Viruses in Zebrafish: Insights into the Ancestral Repertoire of Vertebrate IFN-Stimulated Genes. Journal of immunology (Baltimore, Md. : 1950). 192:4328-41
- Gallagher, T.L., Arribere, J.A., Geurts, P.A., Exner, C.R., McDonald, K.L., Dill, K.K., Marr, H.L., Adkar, S.S., Garnett, A.T., Amacher, S.L., and Conboy, J.G. (2011) Rbfox-regulated alternative splicing is critical for zebrafish cardiac and skeletal muscle functions. Developmental Biology. 359(2):251-61
- Lu, G., Ren, S., Korge, P., Choi, J., Dong, Y., Weiss, J., Koehler, C., Chen, J.N, and Wang, Y. (2007) A novel mitochondrial matrix serine/threonine protein phosphatase regulates the mitochondria permeability transition pore and is essential for cellular survival and development. Genes & Development. 21(7):784-796
- 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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