S Wikipedije, slobodne enciklopedije
Protein 2 sa FERM i PDZ domenom je protein koji je kod ljudi kodiran genom FRMPD2.[5]
Dužina polipeptidnog lanca je 1.309 aminokiselina, а molekulska težina 144.282 Da.[6]
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MQPLTKDAGM | | SLSSVTLASA | | LQVRGEALSE | | EEIWSLLFLA | | AEQLLEDLRN |
DSSDYVVCPW | | SALLSAAGSL | | SFQGRVSHIE | | AAPFKAPELL | | QGQSEDEQPD |
ASQMHVYSLG | | MTLYWSAGFH | | VPPHQPLQLC | | EPLHSILLTM | | CEDQPHRRCT |
LQSVLEACRV | | HEKEVSVYPA | | PAGLHIRRLV | | GLVLGTISEV | | EKRVVEESSS |
VQQNRSYLLR | | KRLRGTSSES | | PAAQAPECLH | | PCRVSERSTE | | TQSSPEPHWS |
TLTHSHCSLL | | VNRALPGADP | | QDQQAGRRLS | | SGSVHSAADS | | SWPTTPSQRG |
FLQRRSKFSR | | PEFILLAGEA | | PMTLHLPGSV | | VTKKGKSYLA | | LRDLCVVLLN |
GQHLEVKCDV | | ESTVGAVFNA | | VTSFANLEEL | | TYFGLAYMKS | | KEFFFLDSET |
RLCKIAPEGW | | REQPQKTSMN | | TFTLFLRIKF | | FVSHYGLLQH | | SLTRHQFYLQ |
LRKDILEERL | | YCNEEILLQL | | GVLALQAEFG | | NYPKEQVESK | | PYFHVEDYIP |
ASLIERMTAL | | RVQVEVSEMH | | RLSSALWGED | | AELKFLRVTQ | | QLPEYGVLVH |
QVFSEKRRPE | | EEMALGICAK | | GVIVYEVKNN | | SRIAMLRFQW | | RETGKISTYQ |
KKFTITSSVT | | GKKHTFVTDS | | AKTSKYLLDL | | CSAQHGFNAQ | | MGSGQPSHVL |
FDHDKFVQMA | | NLSPAHQARS | | KPLIWIQRLS | | CSENELFVSR | | LQGAAGGLLS |
TSMDNFNVDG | | SKEAGAEGIG | | RSPCTGREQL | | KSACVIQKPM | | TWDSLSGPPV |
QSMHAGSKNN | | RRKSFIAEPG | | REIVRVTLKR | | DPHRGFGFVI | | NEGEYSGQAD |
PGIFISSIIP | | GGPAEKAKTI | | KPGGQILALN | | HISLEGFTFN | | MAVRMIQNSP |
DNIELIISQS | | KGVGGNNPDE | | EKNSTANSGV | | SSTDILSFGY | | QGSLLSHTQD |
QDRNTEELDM | | AGVQSLVPRL | | RHQLSFLPLK | | GAGSSCPPSP | | PEISAGEIYF |
VELVKEDGTL | | GFSVTGGINT | | SVPYGGIYVK | | SIVPGGPAAK | | EGQILQGDRL |
LQVDGVILCG | | LTHKQAVQCL | | TGPGQVARLV | | LERRVPRSTQ | | QCPSANDSMG |
DERTAVSLVT | | ALPGRPSSCV | | SVTDGPKFEV | | KLKKNANGLG | | FSFVQMEKES |
CSHLKSDLVR | | IKRLFPGQPA | | EENGAIAAGD | | IILAVNGRST | | EGLIFQEVLH |
LLRGAPQEVT | | LLLCRPPPGA | | LPELEQEWQT | | PELSADKEFT | | RATCTDSCTS |
PILDQEDSWR | | DSASPDAGEG | | LGLRPESSQK | | AIREAQWGQN | | RERPWASSLT |
HSPESHPHLC | | KLHQERDEST | | LATSLEKDVR | | QNCYSVCDIM | | RLGRYSFSSP |
LTRLSTDIF |
Ovaj gen kodira periferni membranski protein i nalazi se u području 10q hromosoma 10 koje sadrži segmentnu duplikaciju. Ova kopija gena je cijele dužine i nalazi se u duplikacijskoj regiji. Dvije druge centromerno proksimalne kopije gena su djelimične i mogu predstavljati pseudogene. Ovaj gen u punoj dužini funkcionira u uspostavljanju i održavanju polarnosti ćelija. Protein se regrutira u ćelijske spojeve na E-kadherin-zavisan način i selektivno je lokaliziran na bazolateralnoj membrani u polariziranim epitelnim ćelijama. Alternativna prerada rezultira s više varijanti transkripta.
- Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrièze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A (2006). "A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease". Am. J. Hum. Genet. 78 (1): 78–88. doi:10.1086/498851. PMC 1380225. PMID 16385451.
- Stenzel N, Fetzer CP, Heumann R, Erdmann KS (2009). "PDZ-domain-directed basolateral targeting of the peripheral membrane protein FRMPD2 in epithelial cells". J. Cell Sci. 122 (Pt 18): 3374–84. doi:10.1242/jcs.046854. PMID 19706687.