ID I0IUI6_HUMAN Unreviewed; 66 AA. AC I0IUI6; DT 13-JUN-2012, integrated into UniProtKB/TrEMBL. DT 13-JUN-2012, sequence version 1. DT 29-MAY-2024, entry version 24. DE SubName: Full=Retinitis pigmentosa 1-like 1 protein {ECO:0000313|EMBL:BAM08935.1}; DE Flags: Fragment; GN Name=RP1L1 {ECO:0000313|EMBL:BAM08935.1}; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606 {ECO:0000313|EMBL:BAM08935.1}; RN [1] {ECO:0000313|EMBL:BAM08935.1} RP NUCLEOTIDE SEQUENCE. RX PubMed=22605915; RA Kabuto T., Takahashi H., Goto-Fukuura Y., Igarashi T., Akahori M., RA Kameya S., Iwata T., Mizota A., Yamaki K., Miyake Y., Takahashi H.; RT "A new mutation in the RP1L1 gene in a patient with occult macular RT dystrophy associated with a depolarizing pattern of focal macular RT electroretinograms."; RL Mol. Vis. 18:1031-1039(2012). CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AB684329; BAM08935.1; -; Genomic_DNA. DR AlphaFoldDB; I0IUI6; -. DR ChiTaRS; RP1L1; human. DR GO; GO:0005930; C:axoneme; IEA:TreeGrafter. DR GO; GO:0035082; P:axoneme assembly; IEA:TreeGrafter. DR GO; GO:0042461; P:photoreceptor cell development; IEA:TreeGrafter. DR GO; GO:0060041; P:retina development in camera-type eye; IEA:TreeGrafter. DR InterPro; IPR040163; RP1/RP1L1. DR PANTHER; PTHR23005; RETINITIS PIGMENTOSA 1 PROTEIN; 1. DR PANTHER; PTHR23005:SF3; RETINITIS PIGMENTOSA 1-LIKE 1 PROTEIN; 1. PE 4: Predicted; FT REGION 35..66 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT NON_TER 1 FT /evidence="ECO:0000313|EMBL:BAM08935.1" FT NON_TER 66 FT /evidence="ECO:0000313|EMBL:BAM08935.1" SQ SEQUENCE 66 AA; 6717 MW; ED1558DAC09160FC CRC64; DQLDSGLWEL TWSQALPDLG SHAMTENFTP TSSCGVDISS GSGGSGESSV PCAMDGTLVT QGTELP //