Gene
hps3
- ID
- ZDB-GENE-061110-115
- Name
- HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
- Symbol
- hps3 Nomenclature History
- Previous Names
-
- zgc:152969
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 3. Orthologous to human HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Schenk et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la014265Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la014266Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la028459Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa6717 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa10831 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa43887 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-hps3 | N/A | Schenk et al., 2019 |
| MO2-hps3 | N/A | Schenk et al., 2019 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Hermansky-Pudlak syndrome 3 | Alliance | Hermansky-Pudlak syndrome 3 | 614072 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | BLOC-2 complex member HPS3, C-terminal domain | BLOC-2 complex member HPS3, N-terminal domain | Hermansky-Pudlak syndrome 3 protein |
|---|---|---|---|---|---|
| UniProtKB:A0A0R4IZE2 | InterPro | 1003 | |||
| UniProtKB:A0A8M2B8S1 | InterPro | 1037 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-284E20 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:152969 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:192484 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001193542 (1) | 3322 nt | ||
| Genomic | GenBank:AL954145 (1) | 160871 nt | ||
| Polypeptide | UniProtKB:A0A8M2B8S1 (1) | 1037 aa |
- Schenk, H., Müller-Deile, J., Schroder, P., Bolaños-Palmieri, P., Beverly-Staggs, L., White, R., Bräsen, J.H., Haller, H., Schiffer, M. (2019) Characterizing renal involvement in Hermansky-Pudlak Syndrome in a zebrafish model. Scientific Reports. 9:17718
- Vázquez-Marín, J., Gutiérrez-Triana, J.A., Almuedo-Castillo, M., Buono, L., Gómez-Skarmeta, J.L., Mateo, J.L., Wittbrodt, J., Martínez-Morales, J.R. (2019) Yap1b, a divergent Yap/Taz family member, cooperates with yap1 in survival and morphogenesis via common transcriptional targets. Development (Cambridge, England). 146(13):
- 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
- Daly, C.M., Willer, J., Gregg, R., and Gross, J.M. (2013) snow white, a Zebrafish Model of Hermansky-Pudlak Syndrome Type 5. Genetics. 195(2):481-494
- 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
- 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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