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Q8IWN7 Proteins with OtherRepeats Repeats
Uniprot ID: Q8IWN7
Protein name : Retinitis pigmentosa 1-like 1 protein
Gene : RP1L1
Protein Families :
Squence Length : 2400
Sequence
>Q8IWN7 2401 MNSTPRNAQAPSHRECFLPSVARTPSVTKVTPAKKITFLKRGDPRFAGVRLAVHQRAFKTFSALMDELSQRVPLSFGVRSVTTPRGLHSLSALEQLEDGGCYLCSDKKPPKTPSGPGRPQERNPTAQQLRDVEGQREAPGTSSSRKSLKTPRRILLIKNMDPRLQQTVVLSHRNTRNLAAFLGKASDLLRFPVKQLYTTSGKKVDSLQALLHSPSVLVCAGHEAFRTPAMKNARRSEAETLSGLTSRNKNGSWGPKTKPSVIHSRSPPGSTPRLPERPGPSNPPVGPAPGRHPQDTPAQSGPLVAGDDMKKKVRMNEDGSLSVEMKVRFHLVGEDTLLWSRRMGRASALTAASGEDPVLGEVDPLCCVWEGYPWGFSEPGVWGPRPCRVGCREVFGRGGQPGPKYEIWTNPLHASQGERVAARKRWGLAQHVRCSGLWGHGTAGRERCSQDSASPASSTGLPEGSEPESSCCPRTPEDGVDSASPSAQIGAERKAGGSLGEDPGLCIDGAGLGGPEQGGRLTPRARSEEGASSDSSASTGSHEGSSEWGGRPQGCPGKARAETSQQEASEGGDPASPALSLSSLRSDDLQAETQGQGTEQATGAAVTREPLVLGLSCSWDSEGASSTPSTCTSSQQGQRRHRSRASAMSSPSSPGLGRVAPRGHPRHSHYRKDTHSPLDSSVTKQVPRPPERRRACQDGSVPRYSGSSSSTRTQASGNLRPPSSGSLPSQDLLGTSSATVTPAVHSDFVSGVSPHNAPSAGWAGDAGSRTCSPAPIPPHTSDSCSKSGAASLGEEARDTPQPSSPLVLQVGRPEQGAVGPHRSHCCSQPGTQPAQEAQRGPSPEASWLCGRYCPTPPRGRPCPQRRSSSCGSTGSSHQSTARGPGGSPQEGTRQPGPTPSPGPNSGASRRSSASQGAGSRGLSEEKTLRSGGGPQGQEEASGVSPSSLPRSSPEAVVREWLDNIPEEPILMTYELADETTGAAGGGLRGPEVDPGDDHSLEGLGEPAQAGQQSLEGDPGQDPEPEGALLGSSDTGPQSGEGVPQGAAPEGVSEAPAEAGADREAPAGCRVSLRALPGRVSASTQIMRALMGSKQGRPSSVPEVSRPMARRLSCSAGALITCLASLQLFEEDLGSPASKVRFKDSPRYQELLSISKDLWPGCDVGEDQLDSGLWELTWSQALPDLGSHAMTENFTPTSSSGVDISSGSGGSGESSVPCAMDGTLVTQGTELPLKTSNQRPDSRTYESPGDLENQQQCCFPTFLNARACACATNEDEAERDSEEQRASSNLEQLAENTVQEEVQLEETKEGTEGEGLQEEAVQLEETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF
Repeat regions
REPEAT 1292 1307 1-1 approximate REPEAT 1310 1326 1-2 approximate REPEAT 1327 1342 1-3 REPEAT 1836 1851 2-1 REPEAT 1852 1867 2-2 REPEAT 1875 1890 2-3 REPEAT 1891 1906 2-4 approximate REPEAT 1907 1921 2-5 REPEAT 1923 1938 2-6 approximate REPEAT 1939 1954 2-7 REPEAT 1955 1970 2-8 approximate REPEAT 1971 1984 2-9 approximate REPEAT 1985 2000 2-10 REPEAT 2001 2016 2-11 REPEAT 2017 2031 2-12 approximate REPEAT 2033 2048 2-13d REPEAT 2056 2071 2-14 REPEAT 2072 2085 2-15 approximate REPEAT 2086 2101 2-16 REPEAT 2102 2116 2-17 REPEAT 2117 2132 2-18 REPEAT 2133 2148 2-19 REPEAT 2149 2164 2-20 REPEAT 2165 2180 2-21 REPEAT 2181 2196 2-22 REPEAT 2197 2212 2-23 REPEAT 2213 2228 2-24 REPEAT 2229 2244 2-25
Sequence region of repeats
1292- 1307 ENTVQEEVQLEETKEG - N 1310- 1326 GEGLQEEAVQLEETKTE - N 1327- 1342 EGLQEEGVQLEETKET 1836- 1851 PEAEGEAQPESEGVEA 1852- 1867 PEAEGDAQEAEGEAQP 1875- 1890 PEAEGEAQPESEDVET 1891- 1906 PEAEWEVQPESEGAEA - N 1907- 1921 PEAEKEAQPETESVE 1923- 1938 LETEGEDEPESEGAEA - N 1939- 1954 QEAEEAAQEAEGQTQP 1955- 1970 ESEVIESQEAEEEAQP - N 1971- 1984 ESEDVEALEVEVET - N 1985- 2000 QEAEGEAQPESEDVEA 2001- 2016 PEAEGEMQEAEEEAQP 2017- 2031 ESDGVEAQPKSEGEE - N 2033- 2048 QEVEGETQKTEGDAQP 2056- 2071 PEAEEEAQEAEGEVQE 2072- 2085 AEGEAHPESEDVDA - N 2086- 2101 QEAEGEAQPESEGVEA 2102- 2116 PEAEGEAQKAEGIEA 2117- 2132 PETEGEAQPESEGIEA 2133- 2148 PEAEGEAQPESEGVEA 2149- 2164 QDAEGEAQPESEGIEA 2165- 2180 QEAEEEAQPELEGVEA 2181- 2196 PEAEGEAQPESEGIEA 2197- 2212 PEAEGEAQPELEGVEA 2213- 2228 PEAEEEAQPEPEGVET 2229- 2244 PEAEGEAQPESEGETQ
Domains
DOMAIN 34 118 Doublecortin 1. DOMAIN 152 231 Doublecortin 2
Function
Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment of rod and cone photoreceptors (By similarity)
Mutation
Disease
"DISEASE: Occult macular dystrophy (OCMD) [MIM:613587]: An inherited macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance It is typically characterized by a central cone dysfunction leading to a loss of vision despite normal ophthalmoscopic appearance, normal fluorescein angiography, and normal full-field electroretinogram (ERGs), but the amplitudes of the focal macular ERGs and multifocal ERGs are significantly reduced at the central retina Note=The disease is caused by mutations affecting the gene represented in this entry"