PIP5K1B

Phosphatidylinositol-4-phosphate 5-kinase type-1 beta is an enzyme that in humans is encoded by the PIP5K1B gene.[5][6][7]

PIP5K1B
Identifiers
Aliases	PIP5K1B, MSS4, STM7, phosphatidylinositol-4-phosphate 5-kinase type 1 beta
External IDs	OMIM: 602745 MGI: 107930 HomoloGene: 100644 GeneCards: PIP5K1B
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q21.11 Start 68,705,240 bp[1] End 69,009,176 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19|19 B Start 24,294,794 bp[2] End 24,555,872 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • transferase activity • nucleotide binding • GO:0001948 protein binding • phosphatidylinositol phosphate kinase activity • ATP binding • kinase activity • 1-phosphatidylinositol-4-phosphate 5-kinase activity • 1-phosphatidylinositol-5-kinase activity • 1-phosphatidylinositol-3-phosphate 5-kinase activity • 1-phosphatidylinositol-3-phosphate 4-kinase activity • phosphatidylinositol-3,4-bisphosphate 5-kinase activity Cellular component • uropod • membrane • endomembrane system • cytosol Biological process • phosphatidylinositol phosphorylation • phosphatidylinositol metabolic process • phosphorylation • phosphatidylinositol biosynthetic process • regulation of phosphatidylinositol 3-kinase signaling Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	8395	18719
Ensembl	ENSG00000107242	ENSMUSG00000024867
UniProt	O14986	P70181
RefSeq (mRNA)	NM_001031687 NM_001278253 NM_003558 NM_001376036 NM_001376037 NM_001376039 NM_001376040 NM_001376041	NM_008846
RefSeq (protein)	NP_001265182 NP_003549 NP_001362965 NP_001362966 NP_001362968 NP_001362969 NP_001362970	NP_032872
Location (UCSC)	Chr 9: 68.71 – 69.01 Mb	Chr 19: 24.29 – 24.56 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Abnormal silencing of the PIP5K1B gene contributes to the cytoskeletal defects seen in Friedreich's ataxia.[8]

References

1. GRCh38: Ensembl release 89: ENSG00000107242 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024867 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Pook MA, Carvajal JJ, Doudney K, Hillermann R, Chamberlain S (Jul 1997). "Exon-intron structure of a 2.7-kb transcript of the STM7 gene with phosphatidylinositol-4-phosphate 5-kinase activity". Genomics. 42 (1): 170–2. doi:10.1006/geno.1997.4726. PMID 9177790.
6. Carvajal JJ, Pook MA, dos Santos M, Doudney K, Hillermann R, Minogue S, Williamson R, Hsuan JJ, Chamberlain S (Nov 1996). "The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase". Nat Genet. 14 (2): 157–62. doi:10.1038/ng1096-157. PMID 8841185.
7. "Entrez Gene: PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta".
8. Bayot A, Reichman S, Lebon S, Csaba Z, Aubry L, Sterkers G, Husson I, Rak M, Rustin P (2013). "Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies". Hum. Mol. Genet. 22 (14): 2894–904. doi:10.1093/hmg/ddt144. 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. doi:10.1016/S1074-7613(03)00303-0. PMID 14614850.
• Carpenter CL (2004). "Btk-dependent regulation of phosphoinositide synthesis". Biochem. Soc. Trans. 32 (Pt 2): 326–9. doi:10.1042/BST0320326. 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. doi:10.1093/hmg/4.8.1411. 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. doi:10.1074/jbc.271.51.32937. 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. doi:10.1074/jbc.M309721200. PMID 14701839.
• Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. doi:10.1038/nature02465. PMC 2734081. PMID 15164053.