INPP1
Inozitol polifosfat 1-fosfataza jest enzim koji je kod ljudi kodiran genom INPP1 sa hromosoma 2.[5][6] INPP1 kodira enzim inozitol polifosfat-1-fosfatazu, jedan od enzima uključenih u signalne puteve fosfatidilinozitola. Ovaj enzim uklanja fosfatnu grupu na poziciji 1 inozitolnog prstena od polifosfata inozitol 1,4-bisfosfata i inozitol 1,3,4-trisfosfata.[6]
Amiokiselininska sekvenca
urediDužina polipeptidnog lanca je 399 aminokiselina, a molekulska težina 43.998 Da.[7]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MSDILRELLC | VSEKAANIAR | ACRQQEALFQ | LLIEEKKEGE | KNKKFAVDFK | ||||
| TLADVLVQEV | IKQNMENKFP | GLEKNIFGEE | SNEFTNDWGE | KITLRLCSTE | ||||
| EETAELLSKV | LNGNKVASEA | LARVVHQDVA | FTDPTLDSTE | INVPQDILGI | ||||
| WVDPIDSTYQ | YIKGSADIKS | NQGIFPCGLQ | CVTILIGVYD | IQTGVPLMGV | ||||
| INQPFVSRDP | NTLRWKGQCY | WGLSYMGTNM | HSLQLTISRR | NGSETHTGNT | ||||
| GSEAAFSPSF | SAVISTSEKE | TIKAALSRVC | GDRIFGAAGA | GYKSLCVVQG | ||||
| LVDIYIFSED | TTFKWDSCAA | HAILRAMGGG | IVDLKECLER | NPETGLDLPQ | ||||
| LVYHVENEGA | AGVDRWANKG | GLIAYRSRKR | LETFLSLLVQ | NLAPAETHT |
Modelni organizmi
uredi| Svojstvo | Fenotip |
|---|---|
| Vijabilnost homozigota | Normalan |
| Plodnost | Normalan |
| Tjelesna težina | Normalan |
| Anksioznost otvorenog polja | Normalan |
| Neurološka procjena | Normalan |
| Snaga stiska | Normalan |
| Test vruće ploče | Normalan |
| Dismorfologija | Normalan |
| Indirektna kalorimetrija | Normalan |
| Test tolerancije glukoze | Normalan |
| Slušni odgovor moždanog stabla | Normalan |
| DEXA | Normalan |
| Radiografija | Normalan |
| Tjelesna temperatura | Normalan |
| Morfologija oka | Normalan |
| Klinička hemija | Normalan |
| Plazmatski imunoglobulini | Normalan |
| Hematologija | Normalan |
| Mikronukleus test | Normalan |
| Težina srca | Normalan |
| Histopatologija kože | Normalan |
| Histopathologija mozga | Normalan |
| Salmonella infekcija | Normalan[8] |
| Citrobacter infekcija | Nenormalan[9] |
| Svi testovi i analize su iz:[10][11] |
Reference
uredi- ^ a b c GRCh38: Ensembl release 89: ENSG00000151689 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026102 - Ensembl, maj 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.
- ^ York JD, Veile RA, Donis-Keller H, Majerus PW (Jul 1993). "Cloning, heterologous expression, and chromosomal localization of human inositol polyphosphate 1-phosphatase". Proc Natl Acad Sci U S A. 90 (12): 5833–7. Bibcode:1993PNAS...90.5833Y. doi:10.1073/pnas.90.12.5833. PMC 46817. PMID 8390685.
- ^ a b "Entrez Gene: INPP1 inositol polyphosphate-1-phosphatase". Pristupljeno 31. 7. 2012.
- ^ "UniProt, P49441" (jezik: engleski). Pristupljeno 17. 11. 2021.
- ^ "Salmonella infection data for Inpp1". Wellcome Trust Sanger Institute.
- ^ "Citrobacter infection data for Inpp1". Wellcome Trust Sanger Institute. Pristupljeno 31. 7. 2012.
- ^ Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
- ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
- ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
- ^ Dolgin E (juni 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–263. doi:10.1038/474262a. PMID 21677718.
- ^ Collins FS, Rossant J, Wurst W (januar 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
Dopunska literatura
uredi- Majerus PW, Ross TS, Cunningham TW, et al. (1990). "Recent insights in phosphatidylinositol signaling". Cell. 63 (3): 459–65. doi:10.1016/0092-8674(90)90442-H. PMID 2225061. S2CID 29563486.
- Zhang X, Majerus PW (1998). "Phosphatidylinositol signalling reactions". Semin. Cell Dev. Biol. 9 (2): 153–60. doi:10.1006/scdb.1997.0220. PMID 9599410.
- Steen VM, Løvlie R, Osher Y, et al. (1998). "The polymorphic inositol polyphosphate 1-phosphatase gene as a candidate for pharmacogenetic prediction of lithium-responsive manic-depressive illness". Pharmacogenetics. 8 (3): 259–68. doi:10.1097/00008571-199806000-00008. PMID 9682271.
- Løvlie R, Gulbrandsen AK, Molven A, Steen VM (2000). "Genomic structure and sequence analysis of a human inositol polyphosphate 1-phosphatase gene (INPP1)". Pharmacogenetics. 9 (4): 517–28. PMID 10780272.
- Patel S, Yenush L, Rodríguez PL, et al. (2002). "Crystal structure of an enzyme displaying both inositol-polyphosphate-1-phosphatase and 3'-phosphoadenosine-5'-phosphate phosphatase activities: a novel target of lithium therapy". J. Mol. Biol. 315 (4): 677–85. doi:10.1006/jmbi.2001.5271. PMID 11812139.
- Piccardi MP, Ardau R, Chillotti C, et al. (2002). "Manic-depressive illness: an association study with the inositol polyphosphate 1-phosphatase and serotonin transporter genes". Psychiatr. Genet. 12 (1): 23–7. doi:10.1097/00041444-200203000-00003. PMID 11901356. S2CID 24222446.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.