PIP5K1B
| PIP5K1B | |||
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Gene ontology | |||
| Molecular function |
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| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| RefSeq (protein) |
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| Location (UCSC) | Chr 9: 68.71 – 69.01 Mb | Chr 19: 24.27 – 24.53 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Phosphatidylinositol-4-phosphate 5-kinase type-1 beta is an enzyme that in humans is encoded by the PIP5K1B gene.[5][6][7]
Abnormal silencing of the PIP5K1B gene contributes to the cytoskeletal defects seen in Friedreich's ataxia.[8]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000107242 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024867 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 9177790.
- S2CID 6324358.
- ^ "Entrez Gene: PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta".
- PMID 23552101.
Further reading
- Niiro H, Clark EA (2003). "Branches of the B cell antigen receptor pathway are directed by protein conduits Bam32 and Carma1". Immunity. 19 (5): 637–40. PMID 14614850.
- Carpenter CL (2004). "Btk-dependent regulation of phosphoinositide synthesis". Biochem. Soc. Trans. 32 (Pt 2): 326–9. PMID 15046600.
- Carvajal JJ, Pook MA, Doudney K, et al. (1995). "Friedreich's ataxia: a defect in signal transduction?". Hum. Mol. Genet. 4 (8): 1411–9. PMID 7581382.
- Loijens JC, Anderson RA (1997). "Type I phosphatidylinositol-4-phosphate 5-kinases are distinct members of this novel lipid kinase family". J. Biol. Chem. 271 (51): 32937–43. PMID 8955136.
- Chang JD, Field SJ, Rameh LE, et al. (2004). "Identification and characterization of a phosphoinositide phosphate kinase homolog". J. Biol. Chem. 279 (12): 11672–9. PMID 14701839.
- Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. PMID 15164053.
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