LOCUS       NM_001377949            2098 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens RPGR interacting protein 1 (RPGRIP1), transcript
            variant 4, mRNA.
ACCESSION   NM_001377949 XM_024449665
VERSION     NM_001377949.1
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 2098)
  AUTHORS   Khan,A.O.
  TITLE     RPGRIP1-related retinal disease presenting as isolated cone
            dysfunction
  JOURNAL   Ophthalmic Genet 44 (6), 595-597 (2023)
   PUBMED   36762997
  REMARK    GeneRIF: RPGRIP1-related retinal disease presenting as isolated
            cone dysfunction.
REFERENCE   2  (bases 1 to 2098)
  AUTHORS   Zhu,L., Ouyang,W., Zhang,M., Wang,H., Li,S., Meng,X. and Yin,Z.Q.
  TITLE     Molecular genetics with clinical characteristics of Leber
            congenital amaurosis in the Han population of western China
  JOURNAL   Ophthalmic Genet 42 (4), 392-401 (2021)
   PUBMED   33970760
  REMARK    GeneRIF: Molecular genetics with clinical characteristics of Leber
            congenital amaurosis in the Han population of western China.
REFERENCE   3  (bases 1 to 2098)
  AUTHORS   Zou,G., Zhang,T., Cheng,X., Igelman,A.D., Wang,J., Qian,X., Fu,S.,
            Wang,K., Koenekoop,R.K., Fishman,G.A., Yang,P., Li,Y., Pennesi,M.E.
            and Chen,R.
  TITLE     Noncoding mutation in RPGRIP1 contributes to inherited retinal
            degenerations
  JOURNAL   Mol Vis 27, 95-106 (2021)
   PUBMED   33907365
  REMARK    GeneRIF: Noncoding mutation in RPGRIP1 contributes to inherited
            retinal degenerations.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2098)
  AUTHORS   Perrault,I., Hanein,S., Gerard,X., Mounguengue,N., Bouyakoub,R.,
            Zarhrate,M., Fourrage,C., Jabot-Hanin,F., Bocquet,B., Meunier,I.,
            Zanlonghi,X., Kaplan,J. and Rozet,J.M.
  TITLE     Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic
            RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis
            Cohort
  JOURNAL   Genes (Basel) 12 (2), 287 (2021)
   PUBMED   33670832
  REMARK    GeneRIF: Whole Locus Sequencing Identifies a Prevalent Founder Deep
            Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital
            Amaurosis Cohort.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2098)
  AUTHORS   Dryja,T.P., Adams,S.M., Grimsby,J.L., McGee,T.L., Hong,D.H., Li,T.,
            Andreasson,S. and Berson,E.L.
  TITLE     Null RPGRIP1 alleles in patients with Leber congenital amaurosis
  JOURNAL   Am J Hum Genet 68 (5), 1295-1298 (2001)
   PUBMED   11283794
REFERENCE   6  (bases 1 to 2098)
  AUTHORS   Hong,D.H., Yue,G., Adamian,M. and Li,T.
  TITLE     Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein
            is stably associated with the photoreceptor ciliary axoneme and
            anchors RPGR to the connecting cilium
  JOURNAL   J Biol Chem 276 (15), 12091-12099 (2001)
   PUBMED   11104772
REFERENCE   7  (bases 1 to 2098)
  AUTHORS   Roepman,R., Bernoud-Hubac,N., Schick,D.E., Maugeri,A., Berger,W.,
            Ropers,H.H., Cremers,F.P. and Ferreira,P.A.
  TITLE     The retinitis pigmentosa GTPase regulator (RPGR) interacts with
            novel transport-like proteins in the outer segments of rod
            photoreceptors
  JOURNAL   Hum Mol Genet 9 (14), 2095-2105 (2000)
   PUBMED   10958648
REFERENCE   8  (bases 1 to 2098)
  AUTHORS   Boylan,J.P. and Wright,A.F.
  TITLE     Identification of a novel protein interacting with RPGR
  JOURNAL   Hum Mol Genet 9 (14), 2085-2093 (2000)
   PUBMED   10958647
REFERENCE   9  (bases 1 to 2098)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30285347
REFERENCE   10 (bases 1 to 2098)
  AUTHORS   Weleber,R.G., Francis,P.J., Trzupek,K.M. and Beattie,C.
  TITLE     Leber Congenital Amaurosis - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301475
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL135744.4.
            
            On Jan 22, 2020 this sequence version replaced XM_024449665.1.
            
            Summary: This gene encodes a photoreceptor protein that interacts
            with retinitis pigmentosa GTPase regulator protein and is a key
            component of cone and rod photoreceptor cells. Mutations in this
            gene lead to autosomal recessive congenital blindness. [provided by
            RefSeq, Oct 2008].
            
            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 :: SRR5189667.224824.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-298               AL135744.4         118493-118790
            299-459             AL135744.4         120957-121117
            460-603             AL135744.4         122199-122342
            604-754             AL135744.4         122794-122944
            755-862             AL135744.4         125558-125665
            863-1047            AL135744.4         128563-128747
            1048-1251           AL135744.4         129364-129567
            1252-1390           AL135744.4         131189-131327
            1391-1491           AL135744.4         135545-135645
            1492-1684           AL135744.4         143976-144168
            1685-1769           AL135744.4         146053-146137
            1770-1900           AL135744.4         149112-149242
            1901-2098           AL135744.4         152044-152241
FEATURES             Location/Qualifiers
     source          1..2098
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..2098
                     /gene="RPGRIP1"
                     /gene_synonym="CORD13; LCA6; RGI1; RGRIP; RPGRIP;
                     RPGRIP1d"
                     /note="RPGR interacting protein 1"
                     /db_xref="GeneID:57096"
                     /db_xref="HGNC:HGNC:13436"
                     /db_xref="MIM:605446"
     exon            1..298
                     /gene="RPGRIP1"
                     /gene_synonym="CORD13; LCA6; RGI1; RGRIP; RPGRIP;
                     RPGRIP1d"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..2013
                     /gene="RPGRIP1"
                     /gene_synonym="CORD13; LCA6; RGI1; RGRIP; RPGRIP;
                     RPGRIP1d"
                     /note="isoform 4 is encoded by transcript variant 4;
                     X-linked retinitis pigmentosa GTPase regulator-interacting
                     protein 1; retinitis pigmentosa GTPase regulator
                     interacting protein 1"
                     /codon_start=1
                     /product="X-linked retinitis pigmentosa GTPase
                     regulator-interacting protein 1 isoform 4"
                     /protein_id="NP_001364878.1"
                     /db_xref="GeneID:57096"
                     /db_xref="HGNC:HGNC:13436"
                     /db_xref="MIM:605446"
                     /translation="MLKLDNKDVISHPLGYPSESLLSIASMLDSSDSSSQPHWSNELI
                     AEQLQQQVSQLQDQLDAELEDKRKVLLELSREKAQNEDLKLEVTNILQKHKQEVELLQ
                     NAATISQPPDRQSEPATHPAVLQENTQIEPSEPKNQEEKKLSQVLNELQVSHAETTLE
                     LEKTRDMLILQRKINVCYQEELEAMMTKADNDNRDHKEKLERLTRLLDLKNNRIKQLE
                     GILRSHDLPTSEQLKDVAYGTRPLSLCLETLPAHGDEDKVDISLLHQGDFNLTDPAEK
                     PNGSIQVQLDWKFPYIPPESFLKPEAQTKGKDTKDSSKISSEEEKASFPSQDQMASPE
                     VPIEAGQYRSKRKPPHGGERKEKEHQVVSYSRRKHGKRIGVQGKNRMEYLSLNILNGN
                     TPEQVNYTEWKFSETNSFIGDGFKNQHEEEEMTLSHSALKQKEPLHPVNDKESSEQGS
                     EVSEAQTTDSDDVIVPPMSQKYPKADSEKMCIEIVSLAFYPEAEVMSDENIKQVYVEY
                     KFYDLPLSETETPVSLRKPRAGEEIHFHFSKVIDLDPQEQQGRRRFLFDMLNGQDPDQ
                     GHLKFTVVSDPLDEEKKECEEVGYAYLQLWQILESGRDILEQELDIVSPEDLATPIGR
                     LKVSLQAAAVLHAIYKEMTEDLFS"
     exon            299..459
                     /gene="RPGRIP1"
                     /gene_synonym="CORD13; LCA6; RGI1; RGRIP; RPGRIP;
                     RPGRIP1d"
                     /inference="alignment:Splign:2.1.0"
     exon            460..603
                     /gene="RPGRIP1"
                     /gene_synonym="CORD13; LCA6; RGI1; RGRIP; RPGRIP;
                     RPGRIP1d"
                     /inference="alignment:Splign:2.1.0"
     exon            604..754
                     /gene="RPGRIP1"
                     /gene_synonym="CORD13; LCA6; RGI1; RGRIP; RPGRIP;
                     RPGRIP1d"
                     /inference="alignment:Splign:2.1.0"
     exon            755..862
                     /gene="RPGRIP1"
                     /gene_synonym="CORD13; LCA6; RGI1; RGRIP; RPGRIP;
                     RPGRIP1d"
                     /inference="alignment:Splign:2.1.0"
     exon            863..1047
                     /gene="RPGRIP1"
                     /gene_synonym="CORD13; LCA6; RGI1; RGRIP; RPGRIP;
                     RPGRIP1d"
                     /inference="alignment:Splign:2.1.0"
     exon            1048..1251
                     /gene="RPGRIP1"
                     /gene_synonym="CORD13; LCA6; RGI1; RGRIP; RPGRIP;
                     RPGRIP1d"
                     /inference="alignment:Splign:2.1.0"
     exon            1252..1390
                     /gene="RPGRIP1"
                     /gene_synonym="CORD13; LCA6; RGI1; RGRIP; RPGRIP;
                     RPGRIP1d"
                     /inference="alignment:Splign:2.1.0"
     exon            1391..1491
                     /gene="RPGRIP1"
                     /gene_synonym="CORD13; LCA6; RGI1; RGRIP; RPGRIP;
                     RPGRIP1d"
                     /inference="alignment:Splign:2.1.0"
     exon            1492..1684
                     /gene="RPGRIP1"
                     /gene_synonym="CORD13; LCA6; RGI1; RGRIP; RPGRIP;
                     RPGRIP1d"
                     /inference="alignment:Splign:2.1.0"
     exon            1685..1769
                     /gene="RPGRIP1"
                     /gene_synonym="CORD13; LCA6; RGI1; RGRIP; RPGRIP;
                     RPGRIP1d"
                     /inference="alignment:Splign:2.1.0"
     exon            1770..1900
                     /gene="RPGRIP1"
                     /gene_synonym="CORD13; LCA6; RGI1; RGRIP; RPGRIP;
                     RPGRIP1d"
                     /inference="alignment:Splign:2.1.0"
     exon            1901..2098
                     /gene="RPGRIP1"
                     /gene_synonym="CORD13; LCA6; RGI1; RGRIP; RPGRIP;
                     RPGRIP1d"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2072..2077
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPGRIP1"
                     /gene_synonym="CORD13; LCA6; RGI1; RGRIP; RPGRIP;
                     RPGRIP1d"
                     /note="hexamer: TATAAA"
     polyA_site      2098
                     /gene="RPGRIP1"
                     /gene_synonym="CORD13; LCA6; RGI1; RGRIP; RPGRIP;
                     RPGRIP1d"
                     /note="major polyA site"
ORIGIN      
        1 agttatgaat aaagcaaggg cagaaaaaaa catgtagggg agagaatgag gaactaggtc
       61 caggagatgc tgaaactgga taataaagac gtcatatcac accccttggg gtatccatct
      121 gagagcttgc tttccattgc cagcatgctg gacagcagtg acagctccag tcagccccac
      181 tggagcaacg agctcatagc ggaacagcta cagcagcaag tctctcagct gcaggatcag
      241 ctggatgctg agctggagga caagagaaaa gttttacttg agctgtccag ggagaaagcc
      301 caaaatgagg atctgaagct tgaagtcacc aacatacttc agaagcataa acaggaagta
      361 gagctcctcc aaaatgcagc cacaatttcc caacctcctg acaggcaatc tgaaccagcc
      421 actcacccag ctgtattgca agagaacact cagatcgagc caagtgaacc caaaaaccaa
      481 gaagaaaaga aactgtccca ggtgctaaat gagttgcaag tatcacacgc agagaccaca
      541 ttggaactag aaaagaccag ggacatgctt attctgcagc gcaaaatcaa cgtgtgttat
      601 caggaggaac tggaggcaat gatgacaaaa gctgacaatg ataatagaga tcacaaagaa
      661 aagctggaga ggttgactcg actactagac ctcaagaata accgtatcaa gcagctggaa
      721 ggtattttaa gaagccatga ccttccaaca tctgaacagc tcaaagatgt tgcttatggc
      781 acccgaccgt tgtcgttatg tttggaaaca ctgccagccc atggagatga ggataaagtg
      841 gatatttctc tgctgcatca gggtgatttt aacctcactg accctgcaga gaaacccaac
      901 ggatctattc aagtgcaact ggattggaag tttccctaca taccccctga gagcttcctg
      961 aaaccagaag ctcagactaa ggggaaggat accaaggaca gttcaaagat ctcatctgaa
     1021 gaggaaaagg cttcatttcc ttcccaggat cagatggcat ctcctgaggt tcccattgaa
     1081 gctggccagt atcgatctaa gagaaaacct cctcatgggg gagaaagaaa ggagaaggag
     1141 caccaggttg tgagctactc aagaagaaaa catggcaaaa gaataggtgt tcaaggaaag
     1201 aatagaatgg agtatcttag ccttaacatc ttaaatggaa atacaccaga gcaggtgaat
     1261 tacactgagt ggaagttctc agagactaac agcttcatag gtgatggctt taaaaatcag
     1321 cacgaggaag aggaaatgac attatcccat tcagcactga aacagaagga acctctacat
     1381 cctgtaaatg acaaagaatc ctctgaacaa ggttctgaag tcagtgaagc acaaactacc
     1441 gacagtgatg atgtcatagt gccacccatg tctcagaaat atcctaaggc agattcagag
     1501 aagatgtgca ttgaaattgt ctccctggcc ttctacccag aggcagaagt gatgtctgat
     1561 gagaacataa aacaggtgta tgtggagtac aaattctacg acctaccctt gtcggagaca
     1621 gagactccag tgtccctaag gaagcctagg gcaggagaag aaatccactt tcactttagc
     1681 aaggtaatag acctggaccc acaggagcag caaggccgaa ggcggtttct gttcgacatg
     1741 ctgaatggac aagatcctga tcaaggacat ttaaagttta cagtggtaag tgatcctctg
     1801 gatgaagaaa agaaagaatg tgaagaagtg ggatatgcat atcttcaact gtggcagatc
     1861 ctggagtcag gaagagatat tctagagcaa gagctagaca ttgttagccc tgaagatctg
     1921 gctaccccaa taggaaggct gaaggtttcc cttcaagcag ctgctgtcct ccatgctatt
     1981 tacaaggaga tgactgaaga tttgttttca tgaaggaaca agtgctattc caatctaaaa
     2041 gtctctgagg gaaccatagt aaaaagtctc ttataaagtt agcttgctat aacatgaa
//
