Property Summary

NCBI Gene PubMed Count 19
PubMed Score 19.33
PubTator Score 24.31

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Gene RIF (10)

PMID Text
25692141 findings indicate that a homozygous p.S1210P exchange in the RP1L1 gene can cause cone dystrophy
24838559 We describe in detail a case of bilateral chronic subfoveal serous retinal detachment in an atypical occult macular dystrophy patient carrying a novel heterozygous RP1L1 mutation (p.S1199P)
23745001 Our study revealed that the previously identified mutation in the retinitis pigmentosa 1L1 gene from Japanese families, R45W3, also was found in Korean occult macular degeneration patients.
23619761 These findings indicate that the phenotype in some cases of occult macular dystrophy with an Arg45Trp mutation in the RP1L1 gene can be unilateral for a considerable period.
23281133 RP1L1 mutations are associated with retinal diseases, including retinitis pigmentosa and occult macular dystrophy.
23229695 Occult macular dystrophy is a genetically heterogeneous disorder in a white family of European descent, screened for genetic mutations in the RP1L1 gene.
22504327 The clinical phenotypes differed between the proband and her mother and were indistinguishable from other sporadic or RP1L1-unassociated OMD patients, suggesting that mutation-dependent clinical features may not be present.
22466457 The abnormalities in the multifocal electroretinograms and optical coherence tomography observed in the occult macular dystrophy patients of different durations strongly support the contribution of RP1L1 mutation to the presence of this disease.
20826268 Amino acid substitution of p.Arg45Trp in retinitis pigmentosa 1-like 1 (RP1L1) was found in three occult macular dystrophy (OMD)families and p.Trp960Arg in a remaining OMD family.
12724644 The RP1L1 gene encodes a large, highly polymorphic, retinal-specific protein. No RP1L1 disease-causing mutations were identified in any of the samples tested.

AA Sequence

MNSTPRNAQAPSHRECFLPSVARTPSVTKVTPAKKITFLKRGDPRFAGVRLAVHQRAFKTFSALMDELSQ      1 - 70
RVPLSFGVRSVTTPRGLHSLSALEQLEDGGCYLCSDKKPPKTPSGPGRPQERNPTAQQLRDVEGQREAPG     71 - 140
TSSSRKSLKTPRRILLIKNMDPRLQQTVVLSHRNTRNLAAFLGKASDLLRFPVKQLYTTSGKKVDSLQAL    141 - 210
LHSPSVLVCAGHEAFRTPAMKNARRSEAETLSGLTSRNKNGSWGPKTKPSVIHSRSPPGSTPRLPERPGP    211 - 280
SNPPVGPAPGRHPQDTPAQSGPLVAGDDMKKKVRMNEDGSLSVEMKVRFHLVGEDTLLWSRRMGRASALT    281 - 350
AASGEDPVLGEVDPLCCVWEGYPWGFSEPGVWGPRPCRVGCREVFGRGGQPGPKYEIWTNPLHASQGERV    351 - 420
AARKRWGLAQHVRCSGLWGHGTAGRERCSQDSASPASSTGLPEGSEPESSCCPRTPEDGVDSASPSAQIG    421 - 490
AERKAGGSLGEDPGLCIDGAGLGGPEQGGRLTPRARSEEGASSDSSASTGSHEGSSEWGGRPQGCPGKAR    491 - 560
AETSQQEASEGGDPASPALSLSSLRSDDLQAETQGQGTEQATGAAVTREPLVLGLSCSWDSEGASSTPST    561 - 630
CTSSQQGQRRHRSRASAMSSPSSPGLGRVAPRGHPRHSHYRKDTHSPLDSSVTKQVPRPPERRRACQDGS    631 - 700
VPRYSGSSSSTRTQASGNLRPPSSGSLPSQDLLGTSSATVTPAVHSDFVSGVSPHNAPSAGWAGDAGSRT    701 - 770
CSPAPIPPHTSDSCSKSGAASLGEEARDTPQPSSPLVLQVGRPEQGAVGPHRSHCCSQPGTQPAQEAQRG    771 - 840
PSPEASWLCGRYCPTPPRGRPCPQRRSSSCGSTGSSHQSTARGPGGSPQEGTRQPGPTPSPGPNSGASRR    841 - 910
SSASQGAGSRGLSEEKTLRSGGGPQGQEEASGVSPSSLPRSSPEAVVREWLDNIPEEPILMTYELADETT    911 - 980
GAAGGGLRGPEVDPGDDHSLEGLGEPAQAGQQSLEGDPGQDPEPEGALLGSSDTGPQSGEGVPQGAAPEG    981 - 1050
VSEAPAEAGADREAPAGCRVSLRALPGRVSASTQIMRALMGSKQGRPSSVPEVSRPMARRLSCSAGALIT   1051 - 1120
CLASLQLFEEDLGSPASKVRFKDSPRYQELLSISKDLWPGCDVGEDQLDSGLWELTWSQALPDLGSHAMT   1121 - 1190
ENFTPTSSSGVDISSGSGGSGESSVPCAMDGTLVTQGTELPLKTSNQRPDSRTYESPGDLENQQQCCFPT   1191 - 1260
FLNARACACATNEDEAERDSEEQRASSNLEQLAENTVQEEVQLEETKEGTEGEGLQEEGVQLEETKTEEG   1261 - 1330
LQEEGVQLEETKTEEGLQEEGVQLEETKTEEGLQEEGVQLEETKTEEGLQEEGVQLEETKTEEGLQEEGV   1331 - 1400
QLEETKTEEGLQEEGVQLEGTKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEAL   1401 - 1470
EEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSET   1471 - 1540
DPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAF   1541 - 1610
LAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELL   1611 - 1680
LQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPM   1681 - 1750
SPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGV   1751 - 1820
DEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGH   1821 - 1890
EDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAE   1891 - 1960
GEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEA   1961 - 2030
EGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPES   2031 - 2100
DGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEA   2101 - 2170
EGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPE   2171 - 2240
SEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVET   2241 - 2310
PEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSS   2311 - 2380
SRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGY   2381 - 2450
DLQEDQALGSLAPTEAVGRADGFGQDDLDF                                           2451 - 2480
//

Text Mined References (21)

PMID Year Title
25692141 2015 Cone dystrophy in patient with homozygous RP1L1 mutation.
24838559 2014 Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P).
23745001 2013 Clinical and genetic characteristics of Korean occult macular dystrophy patients.
23619761 2013 Elderly case of pseudo-unilateral occult macular dystrophy with Arg45Trp mutation in RP1L1 gene.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23281133 2013 RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23229695 2012 Characterizing the phenotype and genotype of a family with occult macular dystrophy.
22605915 2012 A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms.
22504327 2012 Autosomal dominant occult macular dystrophy with an RP1L1 mutation (R45W).
22466457 2012 Clinical characteristics of occult macular dystrophy in family with mutation of RP1l1 gene.
20826268 2010 Dominant mutations in RP1L1 are responsible for occult macular dystrophy.
20236041 2010 The doublecortin gene family and disorders of neuronal structure.
19657028 2009 Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa.
18716609 2009 Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties.
17655910 2007 Identification of novel retinal target genes of thyroid hormone in the human WERI cells by expression microarray analysis.
16869982 2006 The evolving doublecortin (DCX) superfamily.
16421571 2006 DNA sequence and analysis of human chromosome 8.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12724644 2003 Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.
12634863 2003 Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations.