INPP1

INPP1
Identifikatori
Aliasi	INPP1
Vanjski ID-jevi	OMIM: 147263 MGI: 104848 HomoloGene: 1655 GeneCards: INPP1
Lokacija gena (čovjek)
Hrom.	Hromosom 2 (čovjek)
Kraj	190,371,665 bp
Lokacija gena (miš)
Hrom.	Hromosom 1 (miš)
Kraj	52,856,847 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• inositol-1,4-bisphosphate 1-phosphatase activity; • inositol-1,3,4-trisphosphate 1-phosphatase activity; • hydrolase activity; • vezivanje iona metala; • GO:0001948, GO:0016582 vezivanje za proteine;
Ćelijska komponenta	• citosol;
Biološki proces	• phosphate-containing compound metabolic process; • phosphatidylinositol phosphate biosynthetic process; • inositol phosphate metabolic process; • GO:0072468 Transdukcija signala; • GO:0098501, GO:0098502, GO:0006286 Defosforilacija; • inositol phosphate dephosphorylation;
	Izvori:Amigo / QuickGO
Ortolozi
	3628
	16329
	ENSG00000151689
	ENSMUSG00000026102
	P49441
	P49442
	NM_001128928; NM_002194
	NM_008384
	NP_001122400; NP_002185
	NP_032410
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

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

Dužina polipeptidnog lanca je 399 aminokiselina, a molekulska težina 43.998 Da.^[7]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

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

Fenotip *Inpp1* nokaut-miševa
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]

^[12]^[13]^[14]

Reference

^ ^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

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.

Vanjski linkovi

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000151689 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000026102 - 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.

[pmid8390685-5] 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.

[entrez-6] "Entrez Gene: INPP1 inositol polyphosphate-1-phosphatase". Pristupljeno 31. 7. 2012.

[UniProt-7] "UniProt, P49441" (jezik: engleski). Pristupljeno 17. 11. 2021.

[''Salmonella''_infection-8] "Salmonella infection data for Inpp1". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-9] "Citrobacter infection data for Inpp1". Wellcome Trust Sanger Institute. Pristupljeno 31. 7. 2012.

[mgp_reference-10] 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.

[11] Mouse Resources Portal, Wellcome Trust Sanger Institute.

[pmid21677750-12] 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.

[mouse_library-13] Dolgin E (juni 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–263. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-14] 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.

[1]

p r u Enzimi
Teme	Aktivno mjesto Alosterna regulacija Difuzijski limitirani enzim EC broj Enzimska kataliza Inhibicija enzimskih reakcija Kinetika enzima Koenzim Kooperativnost Lineweaver–Burkov dijagram Michaelis–Mentenova kinetika Mjesto vezanja Spisak enzima
Tipovi	EC1 Oksidoreduktaze/spisak EC2 Transferaze/spisak EC3 Hidrolaze/spisak EC4 Lijaze/spisak EC5 Izomeraze/spisak EC6 Ligaze/spisak