LOCUS       NP_001030025            1152 aa            linear   PRI 29-APR-2025
DEFINITION  X-linked retinitis pigmentosa GTPase regulator isoform C [Homo
            sapiens].
ACCESSION   NP_001030025
VERSION     NP_001030025.1
DBSOURCE    REFSEQ: accession NM_001034853.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1152)
  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  (residues 1 to 1152)
  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  (residues 1 to 1152)
  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  (residues 1 to 1152)
  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  (residues 1 to 1152)
  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  (residues 1 to 1152)
  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  (residues 1 to 1152)
  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  (residues 1 to 1152)
  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  (residues 1 to 1152)
  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 (residues 1 to 1152)
  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 BP233620.1, BK005711.1 and
            AL606748.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            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].
            
            Transcript Variant: This variant (C) encodes the longest isoform
            (C).
            
            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 :: BK005711.1, SRR14038193.4037070.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000645032.1/ ENSP00000495537.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1152
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.4"
     Protein         1..1152
                     /product="X-linked retinitis pigmentosa GTPase regulator
                     isoform C"
                     /note="retinitis pigmentosa 3 GTPase regulator; X-linked
                     retinitis pigmentosa GTPase regulator; retinitis
                     pigmentosa 15"
                     /calculated_mol_wt=126911
     Region          38..360
                     /region_name="ATS1"
                     /note="Alpha-tubulin suppressor ATS1 and related RCC1
                     domain-containing proteins [Cell cycle control, cell
                     division, chromosome partitioning, Cytoskeleton]; COG5184"
                     /db_xref="CDD:444065"
     CDS             1..1152
                     /gene="RPGR"
                     /gene_synonym="COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3;
                     XLRP3"
                     /coded_by="NM_001034853.2:143..3601"
                     /note="isoform C is encoded by transcript variant C"
                     /db_xref="CCDS:CCDS35229.1"
                     /db_xref="GeneID:6103"
                     /db_xref="HGNC:HGNC:10295"
                     /db_xref="MIM:312610"
ORIGIN      
        1 mrepeelmpd sgavftfgks kfaennpgkf wfkndvpvhl scgdehsavv tgnnklymfg
       61 snnwgqlglg sksaiskptc vkalkpekvk laacgrnhtl vsteggnvya tggnnegqlg
      121 lgdteerntf hvisfftseh kikqlsagsn tsaaltedgr lfmwgdnseg qiglknvsnv
      181 cvpqqvtigk pvswiscgyy hsafvttdge lyvfgepeng klglpnqllg nhrtpqlvse
      241 ipekviqvac ggehtvvlte navytfglgq fgqlglgtfl fetsepkvie nirdqtisyi
      301 scgenhtali tdiglmytfg dgrhgklglg lenftnhfip tlcsnflrfi vklvacggch
      361 mvvfaaphrg vakeiefdei ndtclsvatf lpyssltsgn vlqrtlsarm rrrererspd
      421 sfsmrrtlpp iegtlglsac flpnsvfprc sernlqesvl seqdlmqpee pdylldemtk
      481 eaeidnsstv eslgettdil nmthimslns nekslklspv qkqkkqqtig eltqdtalte
      541 nddsdeyeem semkegkack qhvsqgifmt qpattieafs deeveipeek egaedskgng
      601 ieeqeveane envkvhggrk ekteilsddl tdkaevsegk aksvgeaedg pegrgdgtce
      661 egssgaehwq deerekgekd kgrgemerpg egekelaeke ewkkrdgeeq eqkereqghq
      721 kernqemeeg geeehgegee eegdreeeee kegegkeege geevegerek eegerkkeer
      781 agkeekgeee gdqgegeeee tegrgeekee ggeveggeve egkgereeee eegegeeeeg
      841 egeeeegege eeegegkgee egeegegeee geegegegee eegegegeee gegegeeeeg
      901 egegeeegeg egeeeegegk geeegeegeg egeeeegege gedgegegee eegewegeee
      961 egegegeeeg egegeegege geeeegegeg eeeegeeege eegegeeege gegeeeeege
     1021 vegevegeeg egegeeeege eegeerekeg egeenrrnre eeeeeegkyq etgeeenerq
     1081 dgeeykkvsk ikgsvkygkh ktyqkksvtn tqgngkeqrs kmpvqskrll kngpsgskkf
     1141 wnnvlphyle lk
//
