LOCUS       NM_001367248            2646 bp    mRNA    linear   PRI 06-OCT-2024
DEFINITION  Homo sapiens retinitis pigmentosa GTPase regulator (RPGR),
            transcript variant G, mRNA.
ACCESSION   NM_001367248
VERSION     NM_001367248.1
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 2646)
  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 2646)
  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 2646)
  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 2646)
  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 2646)
  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 2646)
  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 2646)
  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 2646)
  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 2646)
  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 2646)
  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.
            
            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 :: SRR1803614.184280.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-96                AL606748.9         114477-114572       c
            97-222              AL606748.9         110739-110864       c
            223-315             AL606748.9         110193-110285       c
            316-378             AL606748.9         108367-108429       c
            379-537             AL606748.9         106169-106327       c
            538-687             AL606748.9         104656-104805       c
            688-846             AL606748.9         97955-98113         c
            847-1002            AL606748.9         91975-92130         c
            1003-1127           AL606748.9         88587-88711         c
            1128-1313           AL606748.9         86296-86481         c
            1314-1482           AL606748.9         84624-84792         c
            1483-1574           AL606748.9         78733-78824         c
            1575-1640           AL606748.9         78299-78364         c
            1641-1826           AL606748.9         63927-64112         c
            1827-1884           AL606748.9         62429-62486         c
            1885-1976           AL606748.9         60726-60817         c
            1977-2646           AL606748.9         56503-57172         c
FEATURES             Location/Qualifiers
     source          1..2646
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.4"
     gene            1..2646
                     /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..96
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             39..2183
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /note="isoform G is encoded by transcript variant G;
                     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 G"
                     /protein_id="NP_001354177.1"
                     /db_xref="GeneID:6103"
                     /db_xref="HGNC:HGNC:10295"
                     /db_xref="MIM:312610"
                     /translation="MTEGRGPDGKNRMGENGKEDSGAVFTFGKSKFAENNPGKFWFKN
                     DVPVHLSCGDEHSAVVTGNNKLYMFGSNNWGQLGLGSKSAISKPTCVKALKPEKVKLA
                     ACGRNHTLVSTEGGNVYATGGNNEGQLGLGDTEERNTFHVISFFTSEHKIKQLSAGSN
                     TSAALTEDGRLFMWGDNSEGQIGLKNVSNVCVPQQVTIGKPVSWISCGYYHSAFVTTD
                     GELYVFGEPENGKLGLPNQLLGNHRTPQLVSEIPEKVIQVACGGEHTVVLTENAVYTF
                     GLGQFGQLGLGTFLFETSEPKVIENIRDQTISYISCGENHTALITDIGLMYTFGDGRH
                     GKLGLGLENFTNHFIPTLCSNFLRFIVKLVACGGCHMVVFAAPHRGVAKEIEFDEIND
                     TCLSVATFLPYSSLTSGNVLQRTLSARMRRRERERSPDSFSMRRTLPPIEGTLGLSAC
                     FLPNSVFPRCSERNLQESVLSEQDLMQPEEPDYLLDEMTKEAEIDNSSTVESLGETTD
                     ILNMTHIMSLNSNEKSLKLSPVQKQKDHEFSKTEELKLEDVDEEINAENVESKKKTVG
                     DDESVPTGYHSKTEGAERTNDDSSAETIEKKEKANLEERAICEYNENPKGYMLDDADS
                     SSLEILENSETTPSKDMKKTKKIFLFKRVPSINQKIVKNNNEPLPEIKSIGDQIILKS
                     DNKDADQNHMSQNHQNIPPTNTERRSKSCTIL"
     exon            97..222
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            223..315
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            316..378
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            379..537
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            538..687
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            688..846
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            847..1002
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1003..1127
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1128..1313
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1314..1482
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1483..1574
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1575..1640
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1641..1826
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1827..1884
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1885..1976
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1977..2646
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2438..2443
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /note="hexamer: AATATA"
     polyA_site      2466
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /note="major polyA site"
     regulatory      2615..2620
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /note="hexamer: AATAAA"
     polyA_site      2646
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /note="major polyA site"
ORIGIN      
        1 gccggactgg ggcgggatcg ctggttgcgc tcccgcgaat gactgagggc agaggaccgg
       61 acgggaagaa caggatgggg gagaacggga aagaggattc gggtgctgtg tttacatttg
      121 ggaaaagtaa atttgctgaa aataatcccg gtaaattctg gtttaaaaat gatgtccctg
      181 tacatctttc atgtggagat gaacattctg ctgttgttac cggaaataat aaactttaca
      241 tgtttggcag taacaactgg ggtcagttag gattaggatc aaagtcagcc atcagcaagc
      301 caacatgtgt caaagctcta aaacctgaaa aagtgaaatt agctgcctgt ggaaggaacc
      361 acaccctggt gtcaacagaa ggaggcaatg tatatgcaac tggtggaaat aatgaaggac
      421 agttggggct tggtgacacc gaagaaagaa acacttttca tgtaattagc ttttttacat
      481 ccgagcataa gattaagcag ctgtctgctg gatctaatac ttcagctgcc ctaactgagg
      541 atggaagact ttttatgtgg ggtgacaatt ccgaagggca aattggttta aaaaatgtaa
      601 gtaatgtctg tgtccctcag caagtgacca ttgggaaacc tgtctcctgg atctcttgtg
      661 gatattacca ttcagctttt gtaacaacag atggtgagct atatgtgttt ggagaacctg
      721 agaatgggaa gttaggtctt cccaatcagc tcctgggcaa tcacagaaca ccccagctgg
      781 tgtctgaaat tccggagaag gtgatccaag tagcctgtgg tggagagcat actgtggttc
      841 tcacggagaa tgctgtgtat acctttgggc tgggacaatt tggtcagctg ggtcttggca
      901 cttttctttt tgaaacttca gaacccaaag tcattgagaa tattagggat caaacaataa
      961 gttatatttc ttgtggagaa aatcacacag ctttgataac agatatcggc cttatgtata
     1021 cttttggaga tggtcgccac ggaaaattag gacttggact ggagaatttt accaatcact
     1081 tcattcctac tttgtgctct aattttttga ggtttatagt taaattggtt gcttgtggtg
     1141 gatgtcacat ggtagttttt gctgctcctc atcgtggtgt ggcaaaagaa attgaattcg
     1201 atgaaataaa tgatacttgc ttatctgtgg cgacttttct gccgtatagc agtttaacct
     1261 caggaaatgt actgcagagg actctatcag cacgtatgcg gcgaagagag agggagaggt
     1321 ctccagattc tttttcaatg aggagaacac tacctccaat agaagggact cttggccttt
     1381 ctgcttgttt tctccccaat tcagtctttc cacgatgttc tgagagaaac ctccaagaga
     1441 gtgtcttatc tgaacaggac ctcatgcagc cagaggaacc agattatttg ctagatgaaa
     1501 tgaccaaaga agcagagata gataattctt caactgtaga aagccttgga gaaactactg
     1561 atatcttaaa catgacacac atcatgagcc tgaattccaa tgaaaagtca ttaaaattat
     1621 caccagttca gaaacaaaag gatcatgaat tttctaaaac tgaggaacta aaactagaag
     1681 atgtggatga ggaaattaat gctgaaaatg tggaaagcaa gaagaaaact gtgggagatg
     1741 atgaaagtgt tcctacaggt tatcacagta aaacagaagg agcagaaaga accaatgatg
     1801 atagctcagc tgaaactatt gaaaagaaag aaaaagccaa cctagaggaa cgggccattt
     1861 gtgagtacaa tgaaaaccca aaaggataca tgcttgatga tgcagatagc agttcattag
     1921 aaatcctaga aaacagtgaa acaacaccaa gcaaagacat gaaaaaaaca aagaagattt
     1981 ttctgttcaa aagagtcccc tcaataaatc aaaagattgt caagaataac aatgagccgc
     2041 tcccagagat aaaatccata ggagaccaga tcattttaaa aagtgataat aaagatgccg
     2101 accagaacca catgagtcag aatcatcaga atatcccacc aacaaataca gagagaagat
     2161 caaaatcctg tacaatacta taaatatata tttatgtttt cacagtcacc aagtgtattg
     2221 taatgtatac ttgaaaaatg ttataactta tgaagtaaag tttctgatag tagtctttaa
     2281 aagatataag acttaatatg ttttattcag cttctataag tgtgaccagt tttgatattt
     2341 atttatgcta atatttttaa caagtcattt caaaatatgt gtatctcaaa ttctccctaa
     2401 agtgttgtgg ccttaactgt tcagtattgc aataaaaaat atatttttat atgtggaaaa
     2461 ttgaaataag atatttccta gtttttacta aacaatttta cttctttata attttataag
     2521 gcaatatttg caatcttacg acactgtaac agtttttgat gtatttacaa tttttacaaa
     2581 actgaggtaa aattgtttat aatgaacata ttttaataaa ctatatctgg tcagttccac
     2641 tgttaa
//
