S Wikipedije, slobodne enciklopedije
Prolinom-bogati protein PRCC jest protein koji je kod ljudi kodiran genom PRCC sa hromosoma 1 .[ 1] [ 2]
Dužina polipeptidnog lanca je 491 aminokiselina , a molekulska težina 52.418 Da .[ 3]
10 20 30 40 50 MSLVAYASSD ESEPDEAEPE PEEEEAVAPT SGPALGGLFA SLPAPKGPAL LPPPPQMLAP AFPPPLLLPP PTGDPRLQPP PPLPFGLGGF PPPPGVSPAE AAGVGEGLGL GLPSPRGPGL NLPPPIGGAG PPLGLPKPKK RKEPVKIAAP ELHKGDSDSE EDEPTKKKTI LQGSSEGTGL SALLPQPKNL TVKETNRLLL PHAFSRKPSD GSPDTKPSRL ASKTKTSSLA PVVGTTTTTP SPSAIKAAAK SAALQVTKQI TQEEDDSDEE VAPENFFSLP EKAEPPGVEP YPYPIPTVPE ELPPGTEPEP AFQDDAANAP LEFKMAAGSS GAPWMPKPGD DYSYNQFSTY GDANAAGAYY QDYYSGGYYP AQDPALVPPQ EIAPDASFID DEAFKRLQGK RNRGREEINF VEIKGDDQLS GAQQWMTKSL TEEKTMKSFS KKKGEQPTGQ QRRKHQITYL IHQAKERELE LKNTWSENKL SRRQTQAKYG F
U podskupini papilskih karcinoma bubrežnih ćelija , t(X;1)(p11;q21) translokacija hromosoma je više puta prijavljivana i smatra se da je uzrok raka. Kao rezultat translokacije, faktor transkripcije TFE3 na X-hromosomu postaje spojen sa ovim genom na hromosomu 1 . Spojeni gen rezultira fuzijom N-terminalne regije bogate prolinkim proteinima, koji je kodiran ovim genom sa cijelim proteinom TFE3.
Pokazalo se da ovaj protein interraguje sa proteinom mitotske kontrolne tačke MAD2B, što sugeriše da dominantno-negativni efekt fuzijsog proteina sa TFE3 može dovesti do defekta mitotske kontrolne tačke. Uočene su alternativno prerađene varijante transkripta koje kodiraju različite izoforme .[ 2]
^ Sidhar SK, Clark J, Gill S, Hamoudi R, Crew AJ, Gwilliam R, Ross M, Linehan WM, Birdsall S, Shipley J, Cooper CS (Jan 1997). "The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene" . Hum Mol Genet . 5 (9): 1333–8. doi :10.1093/hmg/5.9.1333 PMID 8872474 . ^ a b "Entrez Gene: PRCC papillary renal cell carcinoma (translocation-associated)" .^ "UniProt, Q92733" (jezik: engleski). Pristupljeno 16. 12. 2021 .
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