Gene
aph1b
- ID
- ZDB-GENE-031118-31
- Name
- APH1B gamma secretase subunit
- Symbol
- aph1b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable protein-macromolecule adaptor activity. Predicted to be involved in Notch receptor processing; Notch signaling pathway; and protein processing. Predicted to act upstream of or within positive regulation of catalytic activity. Predicted to be located in membrane. Predicted to be part of gamma-secretase complex. Predicted to be active in endoplasmic reticulum. Is expressed in forebrain; hindbrain; midbrain; presumptive neural retina; and trunk. Human ortholog(s) of this gene implicated in coronary artery disease. Orthologous to several human genes including APH1B (aph-1 homolog B, gamma-secretase subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Campbell et al., 2006
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Campbell et al., 2006
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa38614 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR009294 | Gamma-secretase subunit Aph-1 |
Domain Details Per Protein
| Protein | Additional Resources | Length | Gamma-secretase subunit Aph-1 |
|---|---|---|---|
| UniProtKB:Q8JHE9 | InterPro | 258 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-97O18 | ZFIN Curated Data | |
| Encodes | EST | fc41h05 | ZFIN Curated Data | |
| Encodes | EST | fi53a04 | ||
| Encodes | cDNA | MGC:86848 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_200115 (1) | 1950 nt | ||
| Genomic | GenBank:CR352249 (1) | 180142 nt | ||
| Polypeptide | UniProtKB:Q8JHE9 (1) | 258 aa |
- Flores, M.V., Hall, C., Jury, A., Crosier, K., and Crosier, P. (2007) The zebrafish retinoid-related orphan receptor (ror) gene family. Gene expression patterns : GEP. 7(5):535-543
- Campbell, W.A., Yang, H., Zetterberg, H., Baulac, S., Sears, J.A., Liu, T., Wong, S.T., Zhong, T.P., and Xia, W. (2006) Zebrafish lacking Alzheimer presenilin enhancer 2 (Pen-2) demonstrate excessive p53-dependent apoptosis and neuronal loss. Journal of neurochemistry. 96(5):1423-1440
- Liu, T., Lu, J., Wang, Y., Campbell, W.A., Huang, L., Zhu, J., Xia, W., and Wong, S.T.C. (2006) Computerized image analysis for quantitative neuronal phenotyping in zebrafish. Journal of Neuroscience Methods. 153(2):190-202
- Woods, I.G., Wilson, C., Friedlander, B., Chang, P., Reyes, D.K., Nix, R., Kelly, P.D., Chu, F., Postlethwait, J.H., and Talbot, W.S. (2005) The zebrafish gene map defines ancestral vertebrate chromosomes. Genome research. 15(9):1307-1314
- Song, H.D., Sun, X.J., Deng, M., Zhang, G.W., Zhou, Y., Wu, X.Y., Sheng, Y., Chen, Y., Ruan, Z., Jiang, C.L., Fan, H.Y., Zon, L.I., Kanki, J.P., Liu, T.X., Look, A.T., and Chen, Z. (2004) Hematopoietic gene expression profile in zebrafish kidney marrow. Proceedings of the National Academy of Sciences of the United States of America. 101(46):16240-16245
- Francis, R., McGrath, G., Zhang, J., Ruddy, D.A., Sym, M., Apfeld, J., Nicoll, M., Maxwell, M., Hai, B., Ellis, M.C., Parks, A.L., Xu, W., Li, J., Gurney, M., Myers, R.L., Himes, C.S., Hiebsch, R., Ruble, C., Nye, J.S., and Curtis, D. (2002) aph-1 and pen-2 are required for Notch pathway signaling, gamma-secretase cleavage of betaAPP, and presenilin protein accumulation. Developmental Cell. 3(1):85-97
- 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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