Gene
sppl2
- ID
- ZDB-GENE-030131-4265
- Name
- signal peptide peptidase-like 2
- Symbol
- sppl2 Nomenclature History
- Previous Names
-
- wu:fc16e01
- wu:fc85d12
- zgc:136525
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable aspartic endopeptidase activity, intramembrane cleaving. Acts upstream of or within negative regulation of coagulation. Predicted to be located in endosome membrane. Predicted to be active in bounding membrane of organelle and endoplasmic reticulum membrane. Orthologous to human SPPL2B (signal peptide peptidase like 2B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Krawitz et al., 2005
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Pickart et al., 2006
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
la023657Tg | Transgenic insertion | Unknown | Unknown | DNA | |
sa16700 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
MO1-sppl2 | N/A | Pickart et al., 2006 |
MO2-sppl2 | N/A | Pickart et al., 2006 |
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Human Disease
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | PA domain | PA domain superfamily | Peptidase A22B, signal peptide peptidase | Presenilin/signal peptide peptidase |
---|---|---|---|---|---|---|
UniProtKB:F1QYI0 | InterPro | 555 | ||||
UniProtKB:A0A8M9QFY1 | InterPro | 504 | ||||
UniProtKB:A0A8M9QFX8 | InterPro | 529 |
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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-57K2 | ZFIN Curated Data | |
Encodes | EST | fc16e01 | ||
Encodes | EST | fc85d12 | ||
Encodes | cDNA | MGC:55854 | ZFIN Curated Data | |
Encodes | cDNA | MGC:136525 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001045244 (1) | 2866 nt | ||
Genomic | GenBank:BX539340 (1) | 234470 nt | ||
Polypeptide | UniProtKB:F1QYI0 (1) | 555 aa |
- 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
- 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
- Haffner, C., and Haass, C. (2006) Cellular Functions of gamma-Secretase-Related Proteins. Neuro-degenerative Diseases. 3(4-5):284-289
- Pickart, M.A., Klee, E.W., Nielsen, A.L., Sivasubbu, S., Mendenhall, E.M., Bill B.R., Chen, E., Eckfeldt, C.E., Knowlton, M., Robu, M.E., Larson, J.D., Deng, Y., Schimmenti, L.A., Ellis, L.B., Verfaillie, C.M., Hammerschmidt, M., Farber, S.A., and Ekker, S.C. (2006) Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretome. PLoS One. 1(1):e104
- Krawitz, P., Haffner, C., Fluhrer, R., Steiner, H., Schmid, B., and Haass, C. (2005) Differential localization and identification of a critical aspartate suggest non-redundant proteolytic functions of the presenlin in homologues SPPL2b and SPPL3. The Journal of biological chemistry. 280(47):39515-39523
- 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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