Gene
pik3r1
- ID
- ZDB-GENE-030131-1280
- Name
- phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
- Symbol
- pik3r1 Nomenclature History
- Previous Names
-
- wu:fb65b05
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable 1-phosphatidylinositol-3-kinase regulator activity. Predicted to be involved in insulin receptor signaling pathway. Predicted to act upstream of or within signal transduction. Predicted to be part of phosphatidylinositol 3-kinase complex, class IA. Is expressed in eye and male organism. Human ortholog(s) of this gene implicated in several diseases, including SHORT syndrome; agammaglobulinemia 7; astroblastoma; endometrial cancer (multiple); and immunodeficiency 36. Orthologous to human PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hu7903 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| la015734Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la025166Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa20533 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa40561 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-pik3r1 | Ding et al., 2022 | |
| MO1-pik3r1 | N/A | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| agammaglobulinemia 7 | Alliance | ?Agammaglobulinemia 7, autosomal recessive | 615214 |
| immunodeficiency 36 | Alliance | Immunodeficiency 36 | 616005 |
| SHORT syndrome | Alliance | SHORT syndrome | 269880 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Phosphatidylinositol 3-kinase regulatory subunit alpha, SH3 domain | PI3K p85 subunit, C-terminal SH2 domain | PI3K p85 subunit, N-terminal SH2 domain | PI3K regulatory subunit p85-related , inter-SH2 domain | PIK3R1, inter-SH2 domain | Rho GTPase-activating protein domain | Rho GTPase activation protein | SH2 domain | SH2 domain superfamily | SH3 domain | SH3-like domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2BCY4 | InterPro | 405 | |||||||||||
| UniProtKB:B0S6V6 | InterPro | 449 | |||||||||||
| UniProtKB:A0A8M2BCX6 | InterPro | 426 | |||||||||||
| UniProtKB:B0S6V7 | InterPro | 727 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pik3r1-201
(1)
|
Ensembl | 5,130 nt | ||
| mRNA |
pik3r1-203
(1)
|
Ensembl | 1,435 nt | ||
| mRNA |
pik3r1-204
(1)
|
Ensembl | 6,247 nt | ||
| ncRNA |
pik3r1-002
(1)
|
Ensembl | 777 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-267K7 | ZFIN Curated Data | |
| Encodes | EST | fb65b05 | ||
| Has Artifact | EST | fb65b11 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001281844 (1) | 5139 nt | ||
| Genomic | GenBank:BX571667 (2) | 151582 nt | ||
| Polypeptide | UniProtKB:B0S6V7 (1) | 727 aa |
- De Bortoli, M., Queisser, A., Pham, V.C., Dompmartin, A., Helaers, R., Boutry, S., Claus, C., De Roo, A.K., Hammer, F., Brouillard, P., Abdelilah-Seyfried, S., Boon, L.M., Vikkula, M. (2024) Somatic loss-of-function PIK3R1 and activating non-hotspot PIK3CA mutations associated with Capillary Malformation with Dilated Veins (CMDV). The Journal of investigative dermatology. 144(9):2066-2077.e6
- Gao, Y., Wu, Y., Tie, F., Wang, H. (2024) Stilbenoids from fenugreek seeds alleviate insulin resistance by regulating the PI3K/AKT/mTOR signaling pathway in a type 2 diabetes zebrafish model. Heliyon. 10:e32007e32007
- Wang, A., Wan, X., Zhu, F., Liu, H., Song, X., Huang, Y., Zhu, L., Ao, Y., Zeng, J., Wang, B., Wu, Y., Xu, Z., Wang, J., Yao, W., Li, H., Zhuang, P., Jiao, J., Zhang, Y. (2024) Habitual Daily Intake of Fried Foods Raises Transgenerational Inheritance Risk of Heart Failure Through NOTCH1-Triggered Apoptosis. Research (Washington, D.C.). 7:04010401
- Xin, S., Zhang, M., Li, P., Wang, L., Zhang, X., Zhang, S., Mu, Z., Lin, H., Li, X., Liu, K. (2024) Marine-Fungus-Derived Natural Compound 4-Hydroxyphenylacetic Acid Induces Autophagy to Exert Antithrombotic Effects in Zebrafish. Marine drugs. 22(4):
- Zhou, X., Lian, K., Jia, J., Zhao, X., Duan, P., Huang, J., Shi, Y. (2024) Functions of Epimedin C in a zebrafish model of glucocorticoid-induced osteoporosis. Journal of Cellular and Molecular Medicine. 28:e18569e18569
- Ding, Y., Wang, M., Bu, H., Li, J., Lin, X., Xu, X. (2022) An F0-based genetic assay in adult zebrafish for discovering modifier genes of an inherited cardiomyopathy. Disease models & mechanisms. 16(5):
- Sun, C.C., Yang, D., Chen, Z.L., Xiao, J.L., Xiao, Q., Li, C.L., Zhou, Z.Q., Peng, X.Y., Tang, C.F. (2022) Exercise intervention mitigates zebrafish age-related sarcopenia via alleviating mitochondrial dysfunction. The FEBS journal. 290(6):1519-1530
- Thiagarajan, S.K., Mok, S.Y., Ogawa, S., Parhar, I.S., Tang, P.Y. (2022) Receptor-Mediated AKT/PI3K Signalling and Behavioural Alterations in Zebrafish Larvae Reveal Association between Schizophrenia and Opioid Use Disorder. International Journal of Molecular Sciences. 23(9)
- Gong, L., Zhou, H., Wang, C., He, L., Guo, C., Peng, C., Li, Y. (2021) Hepatoprotective effect of Forsythiaside A against acetaminophen-induced liver injury in zebrafish: coupling network pharmacology with biochemical pharmacology. Journal of ethnopharmacology. 271:113890
- Mawed, S.A., He, Y., Zhang, J., Mei, J. (2020) Strategy of Hepatic Metabolic Defects Induced by beclin1 Heterozygosity in Adult Zebrafish. International Journal of Molecular Sciences. 21(4):
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