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)
End	69,009,176 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	24,533,236 bp
RNA expression pattern
	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
	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
	8395
	18719
	ENSG00000107242
	ENSMUSG00000024867
	O14986
	P70181
NM_001031687; NM_001278253; NM_003558; NM_001376036; NM_001376037;
	NM_001376039; NM_001376040; NM_001376041
	NM_008846
NP_001265182; NP_003549; NP_001362965; NP_001362966; NP_001362968;
	NP_001362969; NP_001362970
	NP_032872
	Wikidata
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.
^ 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.
^ 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.
^ "Entrez Gene: PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta".
^ 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.

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.

This article on a gene on human chromosome 9 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000107242 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid9177790-5] 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.

[pmid8841185-6] 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.

[entrez-7] "Entrez Gene: PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta".

[pmid23552101-8] 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.

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References

Further reading