Gene
pip5k1ca
- ID
- ZDB-GENE-050208-358
- Name
- phosphatidylinositol-4-phosphate 5-kinase, type I, gamma a
- Symbol
- pip5k1ca Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to enable 1-phosphatidylinositol-4-phosphate 5-kinase activity. Predicted to be involved in phosphatidylinositol phosphate biosynthetic process. Predicted to act upstream of or within phosphorylation. Predicted to be active in plasma membrane. Is expressed in head and pronephric duct. Human ortholog(s) of this gene implicated in lethal congenital contracture syndrome 3. Orthologous to human PIP5K1C (phosphatidylinositol-4-phosphate 5-kinase type 1 gamma).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-pip5k1ca | Morleo et al., 2023 | |
| CRISPR2-pip5k1ca | Morleo et al., 2023 | |
| CRISPR3-pip5k1ca | Morleo et al., 2023 | |
| CRISPR4-pip5k1ca | Morleo et al., 2023 | |
| MO1-pip5k1ca | N/A | Xu et al., 2018 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| lethal congenital contracture syndrome 3 | Alliance | Lethal congenital contractural syndrome 3 | 611369 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR002498 | Phosphatidylinositol-4-phosphate 4/5-kinase, core |
| Family | IPR023610 | Phosphatidylinositol-4/5-phosphate 5/4-kinase |
| Homologous_superfamily | IPR027483 | Phosphatidylinositol-4-phosphate 4/5-kinase, C-terminal domain superfamily |
| Homologous_superfamily | IPR027484 | Phosphatidylinositol-4-phosphate 5-kinase, N-terminal |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Phosphatidylinositol-4/5-phosphate 5/4-kinase | Phosphatidylinositol-4-phosphate 4/5-kinase, core | Phosphatidylinositol-4-phosphate 4/5-kinase, C-terminal domain superfamily | Phosphatidylinositol-4-phosphate 5-kinase, N-terminal |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3B5L6 | InterPro | 701 | ||||
| UniProtKB:E7F4U5 | InterPro | 682 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pip5k1ca-201
(1)
|
Ensembl | 2,558 nt | ||
| mRNA |
pip5k1ca-202
(1)
|
Ensembl | 2,159 nt | ||
| mRNA |
pip5k1ca-203
(1)
|
Ensembl | 2,249 nt | ||
| mRNA |
pip5k1ca-204
(1)
|
Ensembl | 2,219 nt | ||
| mRNA |
pip5k1ca-205
(1)
|
Ensembl | 2,259 nt |
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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 | CH73-243B8 | ZFIN Curated Data | |
| Contained in | BAC | CH211-197G15 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-29I9 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_002666250 (1) | 4830 nt | ||
| Genomic | GenBank:BX649327 (1) | 206348 nt | ||
| Polypeptide | UniProtKB:A0A8M3B5L6 (1) | 701 aa |
- Morleo, M., Venditti, R., Theodorou, E., Briere, L.C., Rosello, M., Tirozzi, A., Tammaro, R., Al-Badri, N., High, F.A., Shi, J., Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Putti, E., Ferrante, L., Cetrangolo, V., Torella, A., Walker, M.A., Tenconi, R., Iascone, M., Mei, D., Guerrini, R., van der Smagt, J., Kroes, H.Y., van Gassen, K.L.I., Bilal, M., Umair, M., Pingault, V., Attie-Bitach, T., Amiel, J., Ejaz, R., Rodan, L., Zollino, M., Agrawal, P.B., Del Bene, F., Nigro, V., Sweetser, D.A., Franco, B. (2023) De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling. American journal of human genetics. 110(8):1377-1393
- Xu, W., Jin, M., Huang, W., Wang, H., Hu, R., Li, J., Cao, Y. (2018) Apical PtdIns(4,5)P2 is required for ciliogenesis and suppression of polycystic kidney disease.. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 33(2):2848-2857
- 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
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- 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
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