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PRCC

PRCC
Identifikatori
Aliasi
Vanjski ID-jeviGeneCards: [1]
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

n/a

n/a

RefSeq (bjelančevina)

n/a

n/a

Lokacija (UCSC)n/an/a
PubMed pretragan/an/a
Wikipodaci
Pogledaj/uredi – čovjek

Prolinom-bogati protein PRCC jest protein koji je kod ljudi kodiran genom PRCC sa hromosoma 1.[1][2]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 491 aminokiselina, a molekulska težina 52.418 Da.[3]

1020304050
MSLVAYASSDESEPDEAEPEPEEEEAVAPTSGPALGGLFASLPAPKGPAL
LPPPPQMLAPAFPPPLLLPPPTGDPRLQPPPPLPFGLGGFPPPPGVSPAE
AAGVGEGLGLGLPSPRGPGLNLPPPIGGAGPPLGLPKPKKRKEPVKIAAP
ELHKGDSDSEEDEPTKKKTILQGSSEGTGLSALLPQPKNLTVKETNRLLL
PHAFSRKPSDGSPDTKPSRLASKTKTSSLAPVVGTTTTTPSPSAIKAAAK
SAALQVTKQITQEEDDSDEEVAPENFFSLPEKAEPPGVEPYPYPIPTVPE
ELPPGTEPEPAFQDDAANAPLEFKMAAGSSGAPWMPKPGDDYSYNQFSTY
GDANAAGAYYQDYYSGGYYPAQDPALVPPQEIAPDASFIDDEAFKRLQGK
RNRGREEINFVEIKGDDQLSGAQQWMTKSLTEEKTMKSFSKKKGEQPTGQ
QRRKHQITYLIHQAKERELELKNTWSENKLSRRQTQAKYGF

Funkcija

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]

Reference

  1. ^ 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.
  2. ^ a b "Entrez Gene: PRCC papillary renal cell carcinoma (translocation-associated)".
  3. ^ "UniProt, Q92733" (jezik: engleski). Pristupljeno 16. 12. 2021.

Dopunska literatura

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