PIP5K1B

PIP5K1B
Identifikatori
Aliasi	PIP5K1B
Vanjski ID-jevi	OMIM: 602745 MGI: 107930 HomoloGene: 100644 GeneCards: PIP5K1B
Lokacija gena (čovjek)
Hrom.	Hromosom 9 (čovjek)
Kraj	69,009,176 bp
Lokacija gena (miš)
Hrom.	Hromosom 19 (miš)
Kraj	24,533,236 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• aktivnost sa transferazom; • nucleotide binding; • GO:0001948, GO:0016582 vezivanje za proteine; • 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;
Ćelijska komponenta	• uropod; • membrana; • Endomembranski sistem; • citosol;
Biološki proces	• phosphatidylinositol phosphate biosynthetic process; • phosphatidylinositol metabolic process; • Fosforilacija; • phosphatidylinositol biosynthetic process; • regulation of phosphatidylinositol 3-kinase signaling;
	Izvori:Amigo / QuickGO
Ortolozi
	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
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Tip-1 beta fosfatidilinositol-4-fosfat 5-kinaze je enzim koji je kod ljudi kodiran genom PIP5K1B.^[5]^[6]^[7]

Kratke činjenice Identifikatori, Aliasi ...

Zatvori

Nenormalno utišavanje gena PIP5K1B doprinosi pojavi citoskeletnih defekata, kao što je Friedreichova ataksija.^[8]

[1]
GRCh38: Ensembl release 89: ENSG00000107242 - Ensembl, maj 2017
[2]
GRCm38: Ensembl release 89: ENSMUSG00000024867 - Ensembl, maj 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.
[9]
"UniProt, O14986". Pristupljeno 11. 9. 2021.

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.

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