PREX2

PREX2
Identifikatori
Aliasi	PREX2
Vanjski ID-jevi	OMIM: 612139 MGI: 1923385 HomoloGene: 23523 GeneCards: PREX2
Lokacija gena (čovjek)
Hrom.	Hromosom 8 (čovjek)
Kraj	68,237,032 bp
Lokacija gena (miš)
Hrom.	Hromosom 1 (miš)
Kraj	11,373,905 bp
Ontologija gena
Molekularna funkcija	• GO:0005097, GO:0005099, GO:0005100 GTPase activator activity; • guanyl-nucleotide exchange factor activity;
Ćelijska komponenta	• citoplazma; • ćelijska membrana; • citosol;
Biološki proces	• adult locomotory behavior; • phosphatidylinositol 3-kinase signaling; • G protein-coupled receptor signaling pathway; • regulation of Rho protein signal transduction; • GO:0007243 intracellular signal transduction; • dendrite morphogenesis; • GO:0032320, GO:0032321, GO:0032855, GO:0043089, GO:0032854 positive regulation of GTPase activity; • negative regulation of protein kinase activity; • negative regulation of TOR signaling;
	Izvori:Amigo / QuickGO
Ortolozi
	80243
	109294
	ENSG00000046889
	ENSMUSG00000048960
	Q70Z35
	Q3LAC4
	NM_024870; NM_025170
	NM_001033636; NM_029525
	NP_079146; NP_079446
	NP_001028808; NP_083801
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Rac faktor 2 razmjene ovisan o fosfatidilinositol-3,4,5-trisfosfatu je protein koji je kod ljudi kodiran genom PREX2.^[5]^[6]

Aminokiselinska sekvenca uredi

Dužina polipeptidnog lanca je 1.606 aminokiselina, а molekulska težina 182.622 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
MSEDSRGDSR	AESAKDLEKQ	LRLRVCVLSE	LQKTERDYVG	TLEFLVSAFL
HRMNQCAASK	VDKNVTEETV	KMLFSNIEDI	LAVHKEFLKV	VEECLHPEPN
AQQEVGTCFL	HFKDKFRIYD	EYCSNHEKAQ	KLLLELNKIR	TIRTFLLNCM
LLGGRKNTDV	PLEGYLVTPI	QRICKYPLIL	KELLKRTPRK	HSDYAAVMEA
LQAMKAVCSN	INEAKRQMEK	LEVLEEWQSH	IEGWEGSNIT	DTCTEMLMCG
VLLKISSGNI	QERVFFLFDN	LLVYCKRKHR	RLKNSKASTD	GHRYLFRGRI
NTEVMEVENV	DDGTADFHSS	GHIVVNGWKI	HNTAKNKWFV	CMAKTPEEKH
EWFEAILKER	ERRKGLKLGM	EQDTWVMISE	QGEKLYKMMC	RQGNLIKDRK
RKLTTFPKCF	LGSEFVSWLL	EIGEIHRPEE	GVHLGQALLE	NGIIHHVTDK
HQFKPEQMLY	RFRYDDGTFY	PRNEMQDVIS	KGVRLYCRLH	SLFTPVIRDK
DYHLRTYKSV	VMANKLIDWL	IAQGDCRTRE	EAMIFGVGLC	DNGFMHHVLE
KSEFKDEPLL	FRFFSDEEME	GSNMKHRLMK	HDLKVVENVI	AKSLLIKSNE
GSYGFGLEDK	NKVPIIKLVE	KGSNAEMAGM	EVGKKIFAIN	GDLVFMRPFN
EVDCFLKSCL	NSRKPLRVLV	STKPRETVKI	PDSADGLGFQ	IRGFGPSVVH
AVGRGTVAAA	AGLHPGQCII	KVNGINVSKE	THASVIAHVT	ACRKYRRPTK
QDSIQWVYNS	IESAQEDLQK	SHSKPPGDEA	GDAFDCKVEE	VIDKFNTMAI
IDGKKEHVSL	TVDNVHLEYG	VVYEYDSTAG	IKCNVVEKMI	EPKGFFSLTA
KILEALAKSD	EHFVQNCTSL	NSLNEVIPTD	LQSKFSALCS	ERIEHLCQRI
SSYKKFSRVL	KNRAWPTFKQ	AKSKISPLHS	SDFCPTNCHV	NVMEVSYPKT
STSLGSAFGV	QLDSRKHNSH	DKENKSSEQG	KLSPMVYIQH	TITTMAAPSG
LSLGQQDGHG	LRYLLKEEDL	ETQDIYQKLL	GKLQTALKEV	EMCVCQIDDL
LSSITYSPKL	ERKTSEGIIP	TDSDNEKGER	NSKRVCFNVA	GDEQEDSGHD
TISNRDSYSD	CNSNRNSIAS	FTSICSSQCS	SYFHSDEMDS	GDELPLSVRI
SHDKQDKIHS	CLEHLFSQVD	SITNLLKGQA	VVRAFDQTKY	LTPGRGLQEF
QQEMEPKLSC	PKRLRLHIKQ	DPWNLPSSVR	TLAQNIRKFV	EEVKCRLLLA
LLEYSDSETQ	LRRDMVFCQT	LVATVCAFSE	QLMAALNQMF	DNSKENEMET
WEASRRWLDQ	IANAGVLFHF	QSLLSPNLTD	EQAMLEDTLV	ALFDLEKVSF
YFKPSEEEPL	VANVPLTYQA	EGSRQALKVY	FYIDSYHFEQ	LPQRLKNGGG
FKIHPVLFAQ	ALESMEGYYY	RDNVSVEEFQ	AQINAASLEK	VKQYNQKLRA
FYLDKSNSPP	NSTSKAAYVD	KLMRPLNALD	ELYRLVASFI	RSKRTAACAN
TACSASGVGL	LSVSSELCNR	LGACHIIMCS	SGVHRCTLSV	TLEQAIILAR
SHGLPPRYIM	QATDVMRKQG	ARVQNTAKNL	GVRDRTPQSA	PRLYKLCEPP
PPAGEE

Klinički značaj uredi

Mutacije u ovom genu često su se viđale u melanomima.^[8]

Reference uredi

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000046889 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000048960 - 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.
^ "Entrez Gene: Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2". Pristupljeno 11. 5. 2012.
^ Rosenfeldt H, Vázquez-Prado J, Gutkind JS (august 2004). "P-REX2, a novel PI-3-kinase sensitive Rac exchange factor". FEBS Lett. 572 (1–3): 167–71. doi:10.1016/j.febslet.2004.06.097. PMID 15304342. S2CID 35668920.
^ "UniProt, Q70Z35" (jezik: engleski). Pristupljeno 21. 9. 2021.
^ Berger MF, Hodis E, Heffernan TP, Deribe YL, Lawrence MS, Protopopov A, Ivanova E, Watson IR, Nickerson E, Ghosh P, Zhang H, Zeid R, Ren X, Cibulskis K, Sivachenko AY, Wagle N, Sucker A, Sougnez C, Onofrio R, Ambrogio L, Auclair D, Fennell T, Carter SL, Drier Y, Stojanov P, Singer MA, Voet D, Jing R, Saksena G, Barretina J, Ramos AH, Pugh TJ, Stransky N, Parkin M, Winckler W, Mahan S, Ardlie K, Baldwin J, Wargo J, Schadendorf D, Meyerson M, Gabriel SB, Golub TR, Wagner SN, Lander ES, Getz G, Chin L, Garraway LA (maj 2012). "Melanoma genome sequencing reveals frequent PREX2 mutations" (PDF). Nature. 485 (7399): 502–6. doi:10.1038/nature11071. PMC 3367798. PMID 22622578.

Dopunska literatura uredi

Donald S, Hill K, Lecureuil C, Barnouin R, Krugmann S, John Coadwell W, Andrews SR, Walker SA, Hawkins PT, Stephens LR, Welch HC (august 2004). "P-Rex2, a new guanine-nucleotide exchange factor for Rac". FEBS Lett. 572 (1–3): 172–6. doi:10.1016/j.febslet.2004.06.096. PMID 15304343. S2CID 31436247.
Hernández-Negrete I, Carretero-Ortega J, Rosenfeldt H, Hernández-García R, Calderón-Salinas JV, Reyes-Cruz G, Gutkind JS, Vázquez-Prado J (august 2007). "P-Rex1 links mammalian target of rapamycin signaling to Rac activation and cell migration". J. Biol. Chem. 282 (32): 23708–15. doi:10.1074/jbc.M703771200. PMID 17565979.
Joseph RE, Norris FA (juli 2005). "Substrate specificity and recognition is conferred by the pleckstrin homology domain of the Dbl family guanine nucleotide exchange factor P-Rex2". J. Biol. Chem. 280 (30): 27508–12. doi:10.1074/jbc.M412495200. PMID 15897194.
Fine B, Hodakoski C, Koujak S, Su T, Saal LH, Maurer M, Hopkins B, Keniry M, Sulis ML, Mense S, Hibshoosh H, Parsons R (septembar 2009). "Activation of the PI3K pathway in cancer through inhibition of PTEN by exchange factor P-REX2a". Science. 325 (5945): 1261–5. doi:10.1126/science.1173569. PMC 2936784. PMID 19729658.
Leslie NR (2009). "P-REX2a driving tumorigenesis by PTEN inhibition". Sci Signal. 2 (94): pe68. doi:10.1126/scisignal.294pe68. PMID 19861688. S2CID 19953626.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000046889 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000048960 - 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.

[entrez-5] "Entrez Gene: Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2". Pristupljeno 11. 5. 2012.

[pmid15304342-6] Rosenfeldt H, Vázquez-Prado J, Gutkind JS (august 2004). "P-REX2, a novel PI-3-kinase sensitive Rac exchange factor". FEBS Lett. 572 (1–3): 167–71. doi:10.1016/j.febslet.2004.06.097. PMID 15304342. S2CID 35668920.

[UniProt-7] "UniProt, Q70Z35" (jezik: engleski). Pristupljeno 21. 9. 2021.

[pmid22622578-8] Berger MF, Hodis E, Heffernan TP, Deribe YL, Lawrence MS, Protopopov A, Ivanova E, Watson IR, Nickerson E, Ghosh P, Zhang H, Zeid R, Ren X, Cibulskis K, Sivachenko AY, Wagle N, Sucker A, Sougnez C, Onofrio R, Ambrogio L, Auclair D, Fennell T, Carter SL, Drier Y, Stojanov P, Singer MA, Voet D, Jing R, Saksena G, Barretina J, Ramos AH, Pugh TJ, Stransky N, Parkin M, Winckler W, Mahan S, Ardlie K, Baldwin J, Wargo J, Schadendorf D, Meyerson M, Gabriel SB, Golub TR, Wagner SN, Lander ES, Getz G, Chin L, Garraway LA (maj 2012). "Melanoma genome sequencing reveals frequent PREX2 mutations" (PDF). Nature. 485 (7399): 502–6. doi:10.1038/nature11071. PMC 3367798. PMID 22622578.

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