NBEAL2
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Neurobeahinoliki protein 2 jest protein koji je kod ljudi kodiran genom NBEAL2 sa hromosoma 3.[5]
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Aminokiselinska sekvenca
Dužina polipeptidnog lanca je 2 754 aminokiseline, а molekulska težina 302.517 Da.[6].
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MAASERLYEL | WLLYYAQKDL | GYLQQWLKAF | VGAFKKSISL | SSLEPRRPEE | ||||
| AGAEVPLLPL | DELHVLAEQL | HQADLEQALL | LLKLFIILCR | NLENIEAGRG | ||||
| QVLVPRVLAL | LTKLVAELKG | CPPPQGRGTQ | LENVALHALL | LCEGLFDPYQ | ||||
| TWRRQRSGEV | ISSKEKSKYK | FPPAALPQEF | SAFFQESLQN | ADHLPPILLL | ||||
| RLIHLFCAVL | AGGKENGQMA | VSDGSVKGLL | SVVRGWSRGP | APDPCLVPLA | ||||
| LEALVGAVHV | LHASRAPPRG | PELRALLESY | FHVLNADWPA | GLSSGPEEAL | ||||
| VTLRVSMLDA | IPMMLACEDR | PVLQATFLSN | NCFEHLTRLI | QNSKLYLQSR | ||||
| APPEGDSDLA | TRLLTEPDVQ | KVLDQDTDAI | AVHVVRVLTC | IMSDSPSAKE | ||||
| VFKERIGYPH | LQEVLQSHGP | PTHRLLQELL | NMAVEGDHSM | CPPPPIRNEQ | ||||
| PVLVLAQWLP | SLPTAELRLF | LAQRLRWLCD | SCPASRATCV | QAGLVGCLLE | ||||
| TLSTGLALEA | RCQEQLLALL | QALGRVSIRP | MELRHLLRPR | PGLDSEPGGA | ||||
| EAGKARHAGA | VIRTLSGMAR | HQGPARALRY | FDLTPSMAGI | MVPPVQRWPG | ||||
| PGFTFHAWLC | LHPMDTAPTP | APTRPLQRKQ | LYSFFTSSGS | GFEAFFTAAG | ||||
| TLVVAVCTRK | EYLTMSLPEV | SFADSAWHCV | AIVHVPGRRP | FSQNLVHVYK | ||||
| DGHLVKTAPL | RCPSLSEPFS | SCCIGSAGYR | TTTTTTGLPT | PPVPATLAYT | ||||
| HPALTRSQSV | PASTGLGWGS | GLVAPLQEGS | IDSTLAGTQD | TRWGSPTSLE | ||||
| GELGAVAIFH | EALQATALRT | LCTLGPNETA | PFKPEGELHE | LSTRLLLHYS | ||||
| PQACKNNICL | DLSPSHGLDG | RLTGHRVETW | DVKDVVNCVG | GMGALLPLLE | ||||
| RVAAQPKEAE | AGPAETHDLV | GPELTSGHNT | QGLVLPLGKS | SEERMERNAV | ||||
| AAFLLMLRNF | LQGHMVNQES | LVQCQGPAII | GALLRKVPSW | AMDMNVLMSA | ||||
| QLLMEQVAAE | GSGPLLYLLY | QHLLFNFHLW | TLSDFAVRLG | HIQYMSSIVR | ||||
| EHRQKLRKKY | GVQFILDALR | THYSPQRERP | LAADDLRTVQ | TSLLGLAREF | ||||
| LVRSLSADDV | QVTQTMLSFL | AATGDDGQAV | GALDLLLALL | HGSLVQESLA | ||||
| VFLLEPGNLE | VLLALLVRPG | SLPLLPDRVC | KILRRLQQNE | RLPERSRQRL | ||||
| RLRECGLQGL | VACLPEGTVS | PQLCQGLYKL | FLGADCLNLS | DLLAVVQLSL | ||||
| QADLSVRLDI | CRQLFHLIYG | QPDVVRLLAR | QAGWQDVLTR | LYVLEAATAG | ||||
| SPPPSSPESP | TSPKPAPPKP | PTESPAEPSD | VFLPSEAPCP | DPDGFYHALS | ||||
| PFCTPFDLGL | ERSSVGSGNT | AGGGGSSGTL | TPASQPGTPS | PLDGPRPFPA | ||||
| APGRHSSSLS | NVLEDGSLPE | PTISGDDTSN | TSNPQQTSEE | ELCNLLTNVL | ||||
| FSVTWRGVEG | SDEAAWRERG | QVFSVLTQLG | ASATLVRPPD | CIKRSLLEMM | ||||
| LESALTDIKE | APVGVLASLT | QQALWLLRLL | QDFLCAEGHG | NQELWSEKLF | ||||
| EGVCSLLDRL | GAWPHLANGT | ADLREMAQIG | LRLVLGYILL | EDPQLHAQAY | ||||
| VRLHMLLQTA | VPARREEACY | VLSKLEAALG | RVLNTSSLES | ATDEAGSPLA | ||||
| AAAAAAAAER | CSWLVPLVRT | LLDRAYEPLG | LQWGLPSLPP | TNGSPTFFED | ||||
| FQAFCATPEW | RHFIDKQVQP | TMSQFEMDTY | AKSHDLMSGF | WNACYDMLMS | ||||
| SGQRRQWERA | QSRRAFQELV | LEPAQRRARL | EGLRYTAVLK | QQATQHSMAL | ||||
| LHWGALWRQL | ASPCGAWALR | DTPIPRWKLS | SAETYSRMRL | KLVPNHHFDP | ||||
| HLEASALRDN | LGEVPLTPTE | EASLPLAVTK | EAKVSTPPEL | LQEDQLGEDE | ||||
| LAELETPMEA | AELDEQREKL | VLSAECQLVT | VVAVVPGLLE | VTTQNVYFYD | ||||
| GSTERVETEE | GIGYDFRRPL | AQLREVHLRR | FNLRRSALEL | FFIDQANYFL | ||||
| NFPCKVGTTP | VSSPSQTPRP | QPGPIPPHTQ | VRNQVYSWLL | RLRPPSQGYL | ||||
| SSRSPQEMLR | ASGLTQKWVQ | REISNFEYLM | QLNTIAGRTY | NDLSQYPVFP | ||||
| WVLQDYVSPT | LDLSNPAVFR | DLSKPIGVVN | PKHAQLVREK | YESFEDPAGT | ||||
| IDKFHYGTHY | SNAAGVMHYL | IRVEPFTSLH | VQLQSGRFDC | SDRQFHSVAA | ||||
| AWQARLESPA | DVKELIPEFF | YFPDFLENQN | GFDLGCLQLT | NEKVGDVVLP | ||||
| PWASSPEDFI | QQHRQALESE | YVSAHLHEWI | DLIFGYKQRG | PAAEEALNVF | ||||
| YYCTYEGAVD | LDHVTDERER | KALEGIISNF | GQTPCQLLKE | PHPTRLSAEE | ||||
| AAHRLARLDT | NSPSIFQHLD | ELKAFFAEVV | SDGVPLVLAL | VPHRQPHSFI | ||||
| TQGSPDLLVT | VSASGLLGTH | SWLPYDRNIS | NYFSFSKDPT | MGSHKTQRLL | ||||
| SGPWVPGSGV | SGQALAVAPD | GKLLFSGGHW | DGSLRVTALP | RGKLLSQLSC | ||||
| HLDVVTCLAL | DTCGIYLISG | SRDTTCMVWR | LLHQGGLSVG | LAPKPVQVLY | ||||
| GHGAAVSCVA | ISTELDMAVS | GSEDGTVIIH | TVRRGQFVAA | LRPLGATFPG | ||||
| PIFHLALGSE | GQIVVQSSAW | ERPGAQVTYS | LHLYSVNGKL | RASLPLAEQP | ||||
| TALTVTEDFV | LLGTAQCALH | ILQLNTLLPA | APPLPMKVAI | RSVAVTKERS | ||||
| HVLVGLEDGK | LIVVVAGQPS | EVRSSQFARK | LWRSSRRISQ | VSSGETEYNP | ||||
| TEAR |
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Funkcija
Protein kodiran ovim genom sadrži bež i Chediak-Higashijev (BEACH) domen i više WD40 domena, a može imati ulogu u biogenezi megakariocita alfa-granula.[5]
Klinički značaj
Pokazalo se da mutacija ovog gena uzrokuje sindrom sivih trombocita.[7]
Reference
Further reading
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