Fosfatidilinozitol-5-fosfat 4-kinaza tip-2 alfa je enzim koji je kodiran genom PIP4K2A.[5][6][7]
Kratke činjenice Dostupne strukture, PDB ...
Zatvori
Dužina polipeptidnog lanca je 406 aminokiselina, а molekulska težina 46.225 Da.[8]
| 10 | | 20 | | 30 | | 40 | | 50 |
|---|
| MATPGNLGSS | | VLASKTKTKK | | KHFVAQKVKL | | FRASDPLLSV | | LMWGVNHSIN |
| ELSHVQIPVM | | LMPDDFKAYS | | KIKVDNHLFN | | KENMPSHFKF | | KEYCPMVFRN |
| LRERFGIDDQ | | DFQNSLTRSA | | PLPNDSQARS | | GARFHTSYDK | | RYIIKTITSE |
| DVAEMHNILK | | KYHQYIVECH | | GITLLPQFLG | | MYRLNVDGVE | | IYVIVTRNVF |
| SHRLSVYRKY | | DLKGSTVARE | | ASDKEKAKEL | | PTLKDNDFIN | | EGQKIYIDDN |
| NKKVFLEKLK | | KDVEFLAQLK | | LMDYSLLVGI | | HDVERAEQEE | | VECEENDGEE |
| EGESDGTHPV | | GTPPDSPGNT | | LNSSPPLAPG | | EFDPNIDVYG | | IKCHENSPRK |
| EVYFMAIIDI | | LTHYDAKKKA | | AHAAKTVKHG | | AGAEISTVNP | | EQYSKRFLDF |
| IGHILT |
Fosfatidilinositol 4,5-bisfosfat, prekursor drugog glasnika fosfatidilinozitolskih signalnih puteva, smatra se uključenim u regulaciju sekrecije, ćelijske proliferacije, diferencijaciju i pokretljivost. Protein kodiran ovim genom jedan je iz porodice enzima koji mogu katalizirati fosforilaciju fosfatidilinozitol-4-fosfata na petom hidroksilu mio-inozitolskog prstena za stvaranje fosfatidilinositol-4,5-bisfosfata.
Aminokiselinska sekvenca ovog enzima ne pokazuje homologije s drugim kinazama, ali rekombinantni protein pokazuje aktivnost kinaze. Ovaj gen je član porodice fosfatidilinositol-4-fosfat 5-kinaza.[7]
Putem studije šire asocijacije na genomu (GWAS), primijećeno je da su neki od jednonukleotidnih polimorfizama (SNP-ovi) koji se nalaze u ovom genu značajno povezani sa osjetljivošću djetinjstvenu akutnu limfoblastnu leukemiju u etnički raznolikim populacijama.[9][10]
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- Carpenter CL (april 2004). "Btk-dependent regulation of phosphoinositide synthesis". Biochemical Society Transactions. 32 (Pt 2): 326–9. doi:10.1042/BST0320326. PMID 15046600.
- Tolias KF, Cantley LC, Carpenter CL (juli 1995). "Rho family GTPases bind to phosphoinositide kinases". The Journal of Biological Chemistry. 270 (30): 17656–9. doi:10.1074/jbc.270.30.17656. PMID 7629060.
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- Saito K, Tolias KF, Saci A, Koon HB, Humphries LA, Scharenberg A, Rawlings DJ, Kinet JP, Carpenter CL (novembar 2003). "BTK regulates PtdIns-4,5-P2 synthesis: importance for calcium signaling and PI3K activity". Immunity. 19 (5): 669–78. doi:10.1016/S1074-7613(03)00297-8. PMID 14614854.
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- Bakker SC, Hoogendoorn ML, Hendriks J, Verzijlbergen K, Caron S, Verduijn W, Selten JP, Pearson PL, Kahn RS, Sinke RJ (mart 2007). "The PIP5K2A and RGS4 genes are differentially associated with deficit and non-deficit schizophrenia". Genes, Brain, and Behavior. 6 (2): 113–9. doi:10.1111/j.1601-183X.2006.00234.x. PMID 17410640. S2CID 32120485.
- He Z, Li Z, Shi Y, Tang W, Huang K, Ma G, Zhou J, Meng J, Li H, Feng G, He L (august 2007). "The PIP5K2A gene and schizophrenia in the Chinese population--a case-control study". Schizophrenia Research. 94 (1–3): 359–65. doi:10.1016/j.schres.2007.04.013. PMID 17555944. S2CID 34716299.
