Gene
itpr3
- ID
- ZDB-GENE-070605-1
- Name
- inositol 1,4,5-trisphosphate receptor, type 3
- Symbol
- itpr3 Nomenclature History
- Previous Names
-
- si:dkey-163f12.8
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable several functions, including calcium ion binding activity; inositol 1,4,5 trisphosphate binding activity; and inositol 1,4,5-trisphosphate-gated calcium channel activity. Acts upstream of or within embryonic skeletal system development. Predicted to be located in endoplasmic reticulum and transport vesicle membrane. Predicted to be active in endoplasmic reticulum; plasma membrane; and secretory granule membrane. Is expressed in brain; head; and pericardial region. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease and type 1 diabetes mellitus. Orthologous to human ITPR3 (inositol 1,4,5-trisphosphate receptor type 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Henke et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| dmh21 | Allele with one point mutation | Unknown | Nonsynonymous | ENU | |
| dmh30 | Allele with one point mutation | Unknown | Missense | not specified | |
| sa11400 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa13385 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa14415 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa15369 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17468 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa21271 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa21272 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa21273 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-itpr3 | N/A | Musso et al., 2014 |
| MO2-itpr3 | N/A | Musso et al., 2014 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| type 1 diabetes mellitus | Alliance | {Diabetes, type 1, susceptibility to} | 222100 |
| Charcot-Marie-Tooth disease, demyelinating, type 1J | 620111 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Armadillo-type fold | Inositol 1,4,5-trisphosphate receptor | Inositol 1,4,5-trisphosphate/ryanodine receptor | Ion transport domain | Mir domain superfamily | MIR motif | RIH domain | Ryanodine/Inositol 1,4,5-trisphosphate receptor | RyR/IP3 receptor binding core, RIH domain superfamily | RyR/IP3R Homology associated domain |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M6Z0J4
|
2639 | ||||||||||
|
UniProtKB:A0A8M6Z266
|
2635 | ||||||||||
|
UniProtKB:A0A0R4IH08
|
2634 |
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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-163F12 | ZFIN Curated Data | |
| Contained in | BAC | RP71-1G9 | ||
| Encodes | cDNA | MGC:172178 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001313811 (1) | 9167 nt | ||
| Genomic | GenBank:BX784023 (1) | 231254 nt | ||
| Polypeptide | UniProtKB:A0A8M6Z0J4 (1) | 2639 aa |
| Species | Symbol | Chromosome | Accession # | Evidence |
|---|---|---|---|---|
| Human | ITPR3 | 6 | Amino acid sequence comparison (4) |
- Ma, Y., Zang, L., Wang, D., Jiang, J., Wang, C., Wang, X., Fang, F., Wang, H. (2019) Effects of miR-181a-5p abnormal expression on zebrafish (Danio rerio) vascular development following triclosan exposure. Chemosphere. 223:523-535
- Tse, M.K., Hung, T.S., Chan, C.M., Wong, T., Dorothea, M., Leclerc, C., Moreau, M., Miller, A.L., Webb, S.E. (2018) Identification of Ca2+ signaling components in neural stem/progenitor cells during differentiation into neurons and glia in intact and dissociated zebrafish neurospheres.. Science China. Life sciences. 61(11):1352-1368
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Henke, K., Daane, J.M., Hawkins, M.B., Dooley, C.M., Busch-Nentwich, E.M., Stemple, D.L., Harris, M.P. (2017) Genetic Screen for Postembryonic Development in the Zebrafish (Danio rerio): Dominant Mutations Affecting Adult Form.. Genetics. 207(2):609-623
- Yartseva, V., Takacs, C.M., Vejnar, C.E., Lee, M.T., Giraldez, A.J. (2017) RESA identifies mRNA-regulatory sequences at high resolution. Nature Methods. 14(2):201-207
- Albasanz, J.L., Santana, S., Guzman-Sanchez, F., León, D.A., Burgos, J.S., Martin, M. (2016) 2-Methyl-6-(phenylethynyl)pyridine Hydrochloride Modulates Metabotropic Glutamate 5 Receptors Endogenously Expressed in Zebrafish Brain. ACS Chemical Neuroscience. 7(12):1690-1697
- Musso, G., Tasan, M., Mosimann, C., Beaver, J.E., Plovie, E., Carr, L.A., Chua, H.N., Dunham, J., Zuberi, K., Rodriguez, H., Morris, Q., Zon, L., Roth, F.P., and MacRae, C.A. (2014) Novel cardiovascular gene functions revealed via systematic phenotype prediction in zebrafish. Development (Cambridge, England). 141(1):224-235
- Paavola, J., Schliffke, S., Rossetti, S., Kuo, I.Y., Yuan, S., Sun, Z., Harris, P.C., Torres, V.E., and Ehrlich, B.E. (2013) Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy. Journal of Molecular and Cellular Cardiology. 58:199-208
- Bohne, A., Darras, A., D'Cotta, H., Baroiller, J.F., Galiana-Arnoux, D., and Volff, J.N. (2010) The vertebrate makorin ubiquitin ligase gene family has been shaped by large-scale duplication and retroposition from an ancestral gonad-specific, maternal-effect gene. BMC Genomics. 11:721
- Petko, J.A., Kabbani, N., Frey, C., Woll, M., Hickey, K., Craig, M., Canfield, V.A., and Levenson, R. (2009) Proteomic and functional analysis of NCS-1 binding proteins reveals novel signaling pathways required for inner ear development in zebrafish. BMC Neuroscience. 10:27
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