RAI1 je transkripcijski faktor pridružen Smith–Magenisovom sindromu, u slučajevima kada osobe imaju delecije gena, Potocki–Lupskijev sindrom i duplikaciju. Poznat je kao protein koji je iducuran retinojskom kiselinom 1.
Dužina polipeptidnog lanca je 1.906 aminokiselina, a molekulska težina 203.352 Da.
Aminokiselinska sekvenca Simboli
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
1020304050 MQSFRERCGFHGKQQNYQQTSQETSRLENYRQPSQAGLSCDRQRLLAKDY YNPQPYPSYEGGAGTPSGTAAAVAADKYHRGSKALPTQQGLQGRPAFPGY GVQDSSPYPGRYAGEESLQAWGAPQPPPPQPQPLPAGVAKYDENLMKKTA VPPSRQYAEQGAQVPFRTHSLHVQQPPPPQQPLAYPKLQRQKLQNDIASP LPFPQGTHFPQHSQSFPTSSTYSSSVQGGGQGAHSYKSCTAPTAQPHDRP LTASSSLAPGQRVQNLHAYQSGRLSYDQQQQQQQQQQQQQQALQSRHHAQ ETLHYQNLAKYQHYGQQGQGYCQPDAAVRTPEQYYQTFSPSSSHSPARSV GRSPSYSSTPSPLMPNLENFPYSQQPLSTGAFPAGITDHSHFMPLLNPSP TDATSSVDTQAGNCKPLQKDKLPENLLSDLSLQSLTALTSQVENISNTVQ QLLLSKAAVPQKKGVKNLVSRTPEQHKSQHCSPEGSGYSAEPAGTPLSEP PSSTPQSTHAEPQEADYLSGSEDPLERSFLYCNQARGSPARVNSNSKAKP ESVSTCSVTSPDDMSTKSDDSFQSLHGSLPLDSFSKFVAGERDCPRLLLS ALAQEDLASEILGLQEAIGEKADKAWAEAPSLVKDSSKPPFSLENHSACL DSVAKSAWPRPGEPEALPDSLQLDKGGNAKDFSPGLFEDPSVAFATPDPK KTTGPLSFGTKPTLGVPAPDPTTAAFDCFPDTTAASSADSANPFAWPEEN LGDACPRWGLHPGELTKGLEQGGKASDGISKGDTHEASACLGFQEEDPPG EKVASLPGDFKQEEVGGVKEEAGGLLQCPEVAKADRWLEDSRHCCSTADF GDLPLLPPTSRKEDLEAEEEYSSLCELLGSPEQRPGMQDPLSPKAPLICT KEEVEEVLDSKAGWGSPCHLSGESVILLGPTVGTESKVQSWFESSLSHMK PGEEGPDGERAPGDSTTSDASLAQKPNKPAVPEAPIAKKEPVPRGKSLRS RRVHRGLPEAEDSPCRAPVLPKDLLLPESCTGPPQGQMEGAGAPGRGASE GLPRMCTRSLTALSEPRTPGPPGLTTTPAPPDKLGGKQRAAFKSGKRVGK PSPKAASSPSNPAALPVASDSSPMGSKTKETDSPSTPGKDQRSMILRSRT KTQEIFHSKRRRPSEGRLPNCRATKKLLDNSHLPATFKVSSSPQKEGRVS QRARVPKPGAGSKLSDRPLHALKRKSAFMAPVPTKKRNLVLRSRSSSSSN ASGNGGDGKEERPEGSPTLFKRMSSPKKAKPTKGNGEPATKLPPPETPDA CLKLASRAAFQGAMKTKVLPPRKGRGLKLEAIVQKITSPSLKKFACKAPG ASPGNPLSPSLSDKDRGLKGAGGSPVGVEEGLVNVGTGQKLPTSGADPLC RNPTNRSLKGKLMNSKKLSSTDCFKTEAFTSPEALQPGGTALAPKKRSRK GRAGAHGLSKGPLEKRPYLGPALLLTPRDRASGTQGASEDNSGGGGKKPK MEELGLASQPPEGRPCQPQTRAQKQPGHTNYSSYSKRKRLTRGRAKNTTS SPCKGRAKRRRQQQVLPLDPAEPEIRLKYISSCKRLRSDSRTPAFSPFVR VEKRDAFTTICTVVNSPGDAPKPHRKPSSSASSSSSSSSFSLDAAGASLA TLPGGSILQPRPSLPLSSTMHLGPVVSKALSTSCLVCCLCQNPANFKDLG DLCGPYYPEHCLPKKKPKLKEKVRPEGTCEEASLPLERTLKGPECAAAAT AGKPPRPDGPADPAKQGPLRTSARGLSRRLQSCYCCDGREDGGEEAAPAD KGRKHECSKEAPAEPGGEAQEHWVHEACAVWTGGVYLVAGKLFGLQEAMK VAVDMMCSSCQEAGATIGCCHKGCLHTYHYPCASDAGCIFIEENFSLKCP KHKRLP
Vanjski linkovi GeneReviews/NIH/NCBI/UW entry on Smith-Magenis Syndrome
Kategorija:Geni na hromosomu 17 Kategorija:Ljudski proteini Kategorija:Proteomika