LOCUS       NM_001367247            2720 bp    mRNA    linear   PRI 06-OCT-2024
DEFINITION  Homo sapiens retinitis pigmentosa GTPase regulator (RPGR),
            transcript variant F, mRNA.
ACCESSION   NM_001367247 XM_005272633
VERSION     NM_001367247.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2720)
  AUTHORS   Baz-Redon,N., Sanchez-Bellver,L., Fernandez-Cancio,M.,
            Rovira-Amigo,S., Burgoyne,T., Ranjit,R., Aquino,V.,
            Toro-Barrios,N., Carmona,R., Polverino,E., Cols,M.,
            Moreno-Galdo,A., Camats-Tarruella,N. and Marfany,G.
  TITLE     Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR
            Variant and Possible Modifier Gene
  JOURNAL   Cells 13 (6), 524 (2024)
   PUBMED   38534367
  REMARK    GeneRIF: Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel
            RPGR Variant and Possible Modifier Gene.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2720)
  AUTHORS   Pantrangi,M., Rath,J., Kaetterhenry,N., Branham,K., Talsness,D. and
            Weber,J.L.
  TITLE     Clinical sequencing of the retinitis pigmentosa gene RPGR in over
            1,000 cases of vision loss
  JOURNAL   Mol Vis 30, 49-57 (2024)
   PUBMED   38586605
  REMARK    GeneRIF: Clinical sequencing of the retinitis pigmentosa gene RPGR
            in over 1,000 cases of vision loss.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2720)
  AUTHORS   Bonetti,G., Cozza,W., Bernini,A., Kaftalli,J., Mareso,C.,
            Cristofoli,F., Medori,M.C., Colombo,L., Martella,S., Staurenghi,G.,
            Salvetti,A.P., Falsini,B., Placidi,G., Attanasio,M., Pertile,G.,
            Bengala,M., Bosello,F., Petracca,A., D'Esposito,F., Toschi,B.,
            Lanzetta,P., Ricci,F., Viola,F., Marceddu,G. and Bertelli,M.
  TITLE     Towards a Long-Read Sequencing Approach for the Molecular Diagnosis
            of RPGRORF15 Genetic Variants
  JOURNAL   Int J Mol Sci 24 (23), 16881 (2023)
   PUBMED   38069202
  REMARK    GeneRIF: Towards a Long-Read Sequencing Approach for the Molecular
            Diagnosis of RPGR[ORF15] Genetic Variants.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2720)
  AUTHORS   Nowomiejska,K., Baltaziak,K., Calka,P., Ciesielka,M., Teresinski,G.
            and Rejdak,R.
  TITLE     Identification of the RPGR Gene Pathogenic Variants in a Cohort of
            Polish Male Patients with Retinitis Pigmentosa Phenotype
  JOURNAL   Genes (Basel) 14 (10), 1950 (2023)
   PUBMED   37895299
  REMARK    GeneRIF: Identification of the RPGR Gene Pathogenic Variants in a
            Cohort of Polish Male Patients with Retinitis Pigmentosa Phenotype.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2720)
  AUTHORS   Benson,M.D., Mukherjee,S., Agather,A.R., Blain,D., Cunningham,D.,
            Mays,R., Sun,X., Li,T., Hufnagel,R.B., Brooks,B.P., Huryn,L.A.,
            Zein,W.M. and Cukras,C.A.
  TITLE     RPGR: Deep Phenotyping and Genetic Characterization With Findings
            Specific to the 3'-end of ORF15
  JOURNAL   Invest Ophthalmol Vis Sci 64 (12), 19 (2023)
   PUBMED   37695603
  REMARK    GeneRIF: RPGR: Deep Phenotyping and Genetic Characterization With
            Findings Specific to the 3'-end of ORF15.
REFERENCE   6  (bases 1 to 2720)
  AUTHORS   Roepman,R., van Duijnhoven,G., Rosenberg,T., Pinckers,A.J.,
            Bleeker-Wagemakers,L.M., Bergen,A.A., Post,J., Beck,A.,
            Reinhardt,R., Ropers,H.H., Cremers,F.P. and Berger,W.
  TITLE     Positional cloning of the gene for X-linked retinitis pigmentosa 3:
            homology with the guanine-nucleotide-exchange factor RCC1
  JOURNAL   Hum Mol Genet 5 (7), 1035-1041 (1996)
   PUBMED   8817343
REFERENCE   7  (bases 1 to 2720)
  AUTHORS   Meindl,A., Dry,K., Herrmann,K., Manson,F., Ciccodicola,A.,
            Edgar,A., Carvalho,M.R., Achatz,H., Hellebrand,H., Lennon,A.,
            Migliaccio,C., Porter,K., Zrenner,E., Bird,A., Jay,M., Lorenz,B.,
            Wittwer,B., D'Urso,M., Meitinger,T. and Wright,A.
  TITLE     A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange
            factor is mutated in X-linked retinitis pigmentosa (RP3)
  JOURNAL   Nat Genet 13 (1), 35-42 (1996)
   PUBMED   8673101
REFERENCE   8  (bases 1 to 2720)
  AUTHORS   McGuire,R.E., Sullivan,L.S., Blanton,S.H., Church,M.W.,
            Heckenlively,J.R. and Daiger,S.P.
  TITLE     X-linked dominant cone-rod degeneration: linkage mapping of a new
            locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11
  JOURNAL   Am J Hum Genet 57 (1), 87-94 (1995)
   PUBMED   7611300
REFERENCE   9  (bases 1 to 2720)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   10 (bases 1 to 2720)
  AUTHORS   Ott,J., Bhattacharya,S., Chen,J.D., Denton,M.J., Donald,J.,
            Dubay,C., Farrar,G.J., Fishman,G.A., Frey,D., Gal,A. et al.
  TITLE     Localizing multiple X chromosome-linked retinitis pigmentosa loci
            using multilocus homogeneity tests
  JOURNAL   Proc Natl Acad Sci U S A 87 (2), 701-704 (1990)
   PUBMED   2300556
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL606748.9.
            
            On Nov 14, 2018 this sequence version replaced XM_005272633.3.
            
            Summary: This gene encodes a protein with a series of six RCC1-like
            domains (RLDs), characteristic of the highly conserved guanine
            nucleotide exchange factors. The encoded protein is found in the
            Golgi body and interacts with RPGRIP1. This protein localizes to
            the outer segment of rod photoreceptors and is essential for their
            viability. Mutations in this gene have been associated with
            X-linked retinitis pigmentosa (XLRP). Multiple alternatively
            spliced transcript variants that encode different isoforms of this
            gene have been reported, but the full-length natures of only some
            have been determined. [provided by RefSeq, Dec 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.171577.1,
                                           SRR1803611.99872.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-170               AL606748.9         114680-114849       c
            171-296             AL606748.9         110739-110864       c
            297-389             AL606748.9         110193-110285       c
            390-452             AL606748.9         108367-108429       c
            453-611             AL606748.9         106169-106327       c
            612-761             AL606748.9         104656-104805       c
            762-920             AL606748.9         97955-98113         c
            921-1076            AL606748.9         91975-92130         c
            1077-1201           AL606748.9         88587-88711         c
            1202-1387           AL606748.9         86296-86481         c
            1388-1556           AL606748.9         84624-84792         c
            1557-1648           AL606748.9         78733-78824         c
            1649-1714           AL606748.9         78299-78364         c
            1715-1900           AL606748.9         63927-64112         c
            1901-1958           AL606748.9         62429-62486         c
            1959-2050           AL606748.9         60726-60817         c
            2051-2720           AL606748.9         56503-57172         c
FEATURES             Location/Qualifiers
     source          1..2720
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.4"
     gene            1..2720
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /note="retinitis pigmentosa GTPase regulator"
                     /db_xref="GeneID:6103"
                     /db_xref="HGNC:HGNC:10295"
                     /db_xref="MIM:312610"
     exon            1..170
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             143..2257
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /note="isoform F is encoded by transcript variant F;
                     retinitis pigmentosa 3 GTPase regulator; X-linked
                     retinitis pigmentosa GTPase regulator; retinitis
                     pigmentosa 15"
                     /codon_start=1
                     /product="X-linked retinitis pigmentosa GTPase regulator
                     isoform F"
                     /protein_id="NP_001354176.1"
                     /db_xref="GeneID:6103"
                     /db_xref="HGNC:HGNC:10295"
                     /db_xref="MIM:312610"
                     /translation="MREPEELMPDSGAVFTFGKSKFAENNPGKFWFKNDVPVHLSCGD
                     EHSAVVTGNNKLYMFGSNNWGQLGLGSKSAISKPTCVKALKPEKVKLAACGRNHTLVS
                     TEGGNVYATGGNNEGQLGLGDTEERNTFHVISFFTSEHKIKQLSAGSNTSAALTEDGR
                     LFMWGDNSEGQIGLKNVSNVCVPQQVTIGKPVSWISCGYYHSAFVTTDGELYVFGEPE
                     NGKLGLPNQLLGNHRTPQLVSEIPEKVIQVACGGEHTVVLTENAVYTFGLGQFGQLGL
                     GTFLFETSEPKVIENIRDQTISYISCGENHTALITDIGLMYTFGDGRHGKLGLGLENF
                     TNHFIPTLCSNFLRFIVKLVACGGCHMVVFAAPHRGVAKEIEFDEINDTCLSVATFLP
                     YSSLTSGNVLQRTLSARMRRRERERSPDSFSMRRTLPPIEGTLGLSACFLPNSVFPRC
                     SERNLQESVLSEQDLMQPEEPDYLLDEMTKEAEIDNSSTVESLGETTDILNMTHIMSL
                     NSNEKSLKLSPVQKQKDHEFSKTEELKLEDVDEEINAENVESKKKTVGDDESVPTGYH
                     SKTEGAERTNDDSSAETIEKKEKANLEERAICEYNENPKGYMLDDADSSSLEILENSE
                     TTPSKDMKKTKKIFLFKRVPSINQKIVKNNNEPLPEIKSIGDQIILKSDNKDADQNHM
                     SQNHQNIPPTNTERRSKSCTIL"
     exon            171..296
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            297..389
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            390..452
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            453..611
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            612..761
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            762..920
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1076
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1077..1201
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1202..1387
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1388..1556
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1557..1648
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1649..1714
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1715..1900
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1901..1958
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1959..2050
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            2051..2720
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2512..2517
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /note="hexamer: AATATA"
     polyA_site      2540
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /note="major polyA site"
     regulatory      2689..2694
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /note="hexamer: AATAAA"
     polyA_site      2720
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /note="major polyA site"
ORIGIN      
        1 gtagttgatc tccggagttt cgccatgcgg aacttggggg ctttcgcggc ccgcgtcggt
       61 gcggagtagc tgctttagcc ccgaccaaac cgtcctctac agcctcctgg ccccggcgca
      121 ggctgcccgt actgcccgtg gcatgaggga gccggaagag ctgatgcccg attcgggtgc
      181 tgtgtttaca tttgggaaaa gtaaatttgc tgaaaataat cccggtaaat tctggtttaa
      241 aaatgatgtc cctgtacatc tttcatgtgg agatgaacat tctgctgttg ttaccggaaa
      301 taataaactt tacatgtttg gcagtaacaa ctggggtcag ttaggattag gatcaaagtc
      361 agccatcagc aagccaacat gtgtcaaagc tctaaaacct gaaaaagtga aattagctgc
      421 ctgtggaagg aaccacaccc tggtgtcaac agaaggaggc aatgtatatg caactggtgg
      481 aaataatgaa ggacagttgg ggcttggtga caccgaagaa agaaacactt ttcatgtaat
      541 tagctttttt acatccgagc ataagattaa gcagctgtct gctggatcta atacttcagc
      601 tgccctaact gaggatggaa gactttttat gtggggtgac aattccgaag ggcaaattgg
      661 tttaaaaaat gtaagtaatg tctgtgtccc tcagcaagtg accattggga aacctgtctc
      721 ctggatctct tgtggatatt accattcagc ttttgtaaca acagatggtg agctatatgt
      781 gtttggagaa cctgagaatg ggaagttagg tcttcccaat cagctcctgg gcaatcacag
      841 aacaccccag ctggtgtctg aaattccgga gaaggtgatc caagtagcct gtggtggaga
      901 gcatactgtg gttctcacgg agaatgctgt gtataccttt gggctgggac aatttggtca
      961 gctgggtctt ggcacttttc tttttgaaac ttcagaaccc aaagtcattg agaatattag
     1021 ggatcaaaca ataagttata tttcttgtgg agaaaatcac acagctttga taacagatat
     1081 cggccttatg tatacttttg gagatggtcg ccacggaaaa ttaggacttg gactggagaa
     1141 ttttaccaat cacttcattc ctactttgtg ctctaatttt ttgaggttta tagttaaatt
     1201 ggttgcttgt ggtggatgtc acatggtagt ttttgctgct cctcatcgtg gtgtggcaaa
     1261 agaaattgaa ttcgatgaaa taaatgatac ttgcttatct gtggcgactt ttctgccgta
     1321 tagcagttta acctcaggaa atgtactgca gaggactcta tcagcacgta tgcggcgaag
     1381 agagagggag aggtctccag attctttttc aatgaggaga acactacctc caatagaagg
     1441 gactcttggc ctttctgctt gttttctccc caattcagtc tttccacgat gttctgagag
     1501 aaacctccaa gagagtgtct tatctgaaca ggacctcatg cagccagagg aaccagatta
     1561 tttgctagat gaaatgacca aagaagcaga gatagataat tcttcaactg tagaaagcct
     1621 tggagaaact actgatatct taaacatgac acacatcatg agcctgaatt ccaatgaaaa
     1681 gtcattaaaa ttatcaccag ttcagaaaca aaaggatcat gaattttcta aaactgagga
     1741 actaaaacta gaagatgtgg atgaggaaat taatgctgaa aatgtggaaa gcaagaagaa
     1801 aactgtggga gatgatgaaa gtgttcctac aggttatcac agtaaaacag aaggagcaga
     1861 aagaaccaat gatgatagct cagctgaaac tattgaaaag aaagaaaaag ccaacctaga
     1921 ggaacgggcc atttgtgagt acaatgaaaa cccaaaagga tacatgcttg atgatgcaga
     1981 tagcagttca ttagaaatcc tagaaaacag tgaaacaaca ccaagcaaag acatgaaaaa
     2041 aacaaagaag atttttctgt tcaaaagagt cccctcaata aatcaaaaga ttgtcaagaa
     2101 taacaatgag ccgctcccag agataaaatc cataggagac cagatcattt taaaaagtga
     2161 taataaagat gccgaccaga accacatgag tcagaatcat cagaatatcc caccaacaaa
     2221 tacagagaga agatcaaaat cctgtacaat actataaata tatatttatg ttttcacagt
     2281 caccaagtgt attgtaatgt atacttgaaa aatgttataa cttatgaagt aaagtttctg
     2341 atagtagtct ttaaaagata taagacttaa tatgttttat tcagcttcta taagtgtgac
     2401 cagttttgat atttatttat gctaatattt ttaacaagtc atttcaaaat atgtgtatct
     2461 caaattctcc ctaaagtgtt gtggccttaa ctgttcagta ttgcaataaa aaatatattt
     2521 ttatatgtgg aaaattgaaa taagatattt cctagttttt actaaacaat tttacttctt
     2581 tataatttta taaggcaata tttgcaatct tacgacactg taacagtttt tgatgtattt
     2641 acaattttta caaaactgag gtaaaattgt ttataatgaa catattttaa taaactatat
     2701 ctggtcagtt ccactgttaa
//
