PIP5K1B

PIP5K1B
Identifiers
Aliases	PIP5K1B , MSS4, STM7, phosphatidylinositol-4-phosphate 5-kinase type 1 beta
External IDs	OMIM: 602745; MGI: 107930; HomoloGene: 100644; GeneCards: PIP5K1B; OMA:PIP5K1B - orthologs
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 24,272,158 bp [2] End 24,533,236 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Epithelium of choroid plexus jejunal mucosa mucosa of ileum mucosa of colon mucosa of sigmoid colon rectum duodenum cardiac muscle tissue of right atrium gonad myocardium of left ventricle Top expressed in choroid plexus of fourth ventricle saccule Epithelium of choroid plexus parotid gland retinal pigment epithelium otic placode crypt of lieberkuhn of small intestine otic vesicle granulocyte CA3 field More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity nucleotide binding 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 phosphate biosynthetic process 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: 24.27 – 24.53 Mb PubMed search [3] [4]
Wikidata
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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

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. S2CID   6324358.
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. Bibcode:2004Natur.429..369H. doi:10.1038/nature02465. PMC   2734081 . PMID   15164053.