LOCUS HSU57629 2784 bp mRNA linear HUM 16-MAY-1996
DEFINITION Human retinitis pigmentosa GTPase regulator (RPGR) mRNA, complete
cds.
ACCESSION U57629
VERSION U57629.1
KEYWORDS .
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 2784)
AUTHORS Meindl,A., Dry,K., Herrmann,K., Manson,F., Ciccodicola,A.,
Edgar,A., Carvalho,M.R.S., 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 2 (bases 1 to 2784)
AUTHORS Herrmann,K.
TITLE Direct Submission
JOURNAL Submitted (06-MAY-1996) Klaus Herrmann, Paediatrische Genetik, LMU
Muenchen, Goethestrasse 29, Muenchen D-80336, Germany
FEATURES Location/Qualifiers
source 1..2784
/db_xref="H-InvDB:HIT000220493"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xp21.1"
gene 1..2784
/gene="RPGR"
exon 1..87
/gene="RPGR"
/number=1
CDS 60..2507
/gene="RPGR"
/note="similar to RCC1 guanine nucleotide exchange factor,
SwissProt Accession Number P18754"
/codon_start=1
/product="retinitis pigmentosa GTPase regulator"
/protein_id="AAC50481.1"
/translation="MREPEELMPDSGAVFTFGKSKFAENNPGKFWFKNDVPVHLSCGD
EHSAVVTGNNKLYMFGSNNWGQLGLGSKSAISKPTCVKALKPEKVKLAACGRNHTLVS
TEGGNVYATGGNNEGQLGLGDTEERNTFHVISFFTSEHKIKQLSAGSNTSAALTEDGR
LFMWGDNSEGQIGLKNVSNVCVPQQVTIGKPVSWISCGYYHSAFVTTDGELYVFGEPE
NGKLGLPNQLLGNHRTPQLVSEIPEKVIQVACGGEHTVVLTENAVYTFGLGQFGQLGL
GTFLFETSEPKVIENIRDQTISYISCGENHTALITDIGLMYTFGDGRHGKLGLGLENF
TNHFIPTLCSNFLRFIVKLVACGGCHMVVFAAPHRGVAKEIEFDEINDTCLSVATFLP
YSSLTSGNVLQRTLSARMRRRERERSPDSFSMRRTLPPIEGTLGLSACFLPNSVFPRC
SERNLQESVLSEQDLMQPEEPDYLLDEMTKEAEIDNSSTVESLGETTDILNMTHIMSL
NSNEKSLKLSPVQKQKKQQTIGELTQDTALTENDDSDEYEEMSEMKEGKACKQHVSQG
IFMTQPATTIEAFSDEEVEIPEEKEGAEDSKGNGIEEQEVEANEENVKVHGGRKEKTE
ILSDDLTDKAEDHEFSKTEELKLEDVDEEINAENVESKKKTVGDDESVPTGYHSKTEG
AERTNDDSSAETIEKKEKANLEERAICEYNENPKGYMLDDADSSSLEILENSETTPSK
DMKKTKKIFLFKRVPSINQKIVKNNNEPLPEIKSIGDQIILKSDNKDADQNHMSQNHQ
NIPPTNTERRSKSCTIL"
exon 88..213
/gene="RPGR"
/number=2
misc_feature 96..118
/gene="RPGR"
/note="encodes GTP phosphate binding motif 'A'"
misc_feature 147..164
/gene="RPGR"
/note="encodes GTP phosphate binding motif 'B'"
misc_feature 174..1154
/gene="RPGR"
/note="encodes region that is similar to RCC1"
exon 214..306
/gene="RPGR"
/number=3
exon 307..369
/gene="RPGR"
/number=4
exon 370..528
/gene="RPGR"
/number=5
exon 529..678
/gene="RPGR"
/number=6
exon 679..837
/gene="RPGR"
/number=6
exon 838..993
/gene="RPGR"
/number=8
exon 994..1118
/gene="RPGR"
/number=9
exon 1119..1304
/gene="RPGR"
/number=10
exon 1305..1473
/gene="RPGR"
/number=11
exon 1474..1565
/gene="RPGR"
/number=12
exon 1566..1631
/gene="RPGR"
/number=13
exon 1632..1812
/gene="RPGR"
/number=14
exon 1813..1964
/gene="RPGR"
/number=15
exon 1965..2150
/gene="RPGR"
/number=16
exon 2151..2208
/gene="RPGR"
/number=17
exon 2209..2300
/gene="RPGR"
/number=18
exon 2301..2504
/gene="RPGR"
/number=19
misc_feature 2493..2501
/gene="RPGR"
/note="encodes isoprenylation site"
regulatory 2755..2760
/regulatory_class="polyA_signal_sequence"
/gene="RPGR"
BASE COUNT 952 a 481 c 621 g 730 t
ORIGIN
1 accaaaccgt cctctacagc ctcctggccc cggcgcaggc tgcccgtact gcccgtggca
61 tgagggagcc ggaagagctg atgcccgatt cgggtgctgt gtttacattt gggaaaagta
121 aatttgctga aaataatccc ggtaaattct ggtttaaaaa tgatgtccct gtacatcttt
181 catgtggaga tgaacattct gctgttgtta ccggaaataa taaactttac atgtttggca
241 gtaacaactg gggtcagtta ggattaggat caaagtcagc catcagcaag ccaacatgtg
301 tcaaagctct aaaacctgaa aaagtgaaat tagctgcctg tggaaggaac cacaccctgg
361 tgtcaacaga aggaggcaat gtatatgcaa ctggtggaaa taatgaagga cagttggggc
421 ttggtgacac cgaagaaaga aacacttttc atgtaattag cttttttaca tccgagcata
481 agattaagca gctgtctgct ggatctaata cttcagctgc cctaactgag gatggaagac
541 tttttatgtg gggtgacaat tccgaagggc aaattggttt aaaaaatgta agtaatgtct
601 gtgtccctca gcaagtgacc attgggaaac ctgtctcctg gatctcttgt ggatattacc
661 attcagcttt tgtaacaaca gatggtgagc tatatgtgtt tggagaacct gagaatggga
721 agttaggtct tcccaatcag ctcctgggca atcacagaac accccagctg gtgtctgaaa
781 ttccggagaa ggtgatccaa gtagcctgtg gtggagagca tactgtggtt ctcacggaga
841 atgctgtgta tacctttggg ctgggacaat ttggtcagct gggtcttggc acttttcttt
901 ttgaaacttc agaacccaaa gtcattgaga atattaggga tcaaacaata agttatattt
961 cttgtggaga aaatcacaca gctttgataa cagatatcgg ccttatgtat acttttggag
1021 atggtcgcca cggaaaatta ggacttggac tggagaattt taccaatcac ttcattccta
1081 ctttgtgctc taattttttg aggtttatag ttaaattggt tgcttgtggt ggatgtcaca
1141 tggtagtttt tgctgctcct catcgtggtg tggcaaaaga aattgaattc gatgaaataa
1201 atgatacttg cttatctgtg gcgacttttc tgccgtatag cagtttaacc tcaggaaatg
1261 tactgcagag gactctatca gcacgtatgc ggcgaagaga gagggagagg tctccagatt
1321 ctttttcaat gaggagaaca ctacctccaa tagaagggac tcttggcctt tctgcttgtt
1381 ttctccccaa ttcagtcttt ccacgatgtt ctgagagaaa cctccaagag agtgtcttat
1441 ctgaacagga cctcatgcag ccagaggaac cagattattt gctagatgaa atgaccaaag
1501 aagcagagat agataattct tcaactgtag aaagccttgg agaaactact gatatcttaa
1561 acatgacaca catcatgagc ctgaattcca atgaaaagtc attaaaatta tcaccagttc
1621 agaaacaaaa gaaacaacaa acaattgggg aactgacgca ggatacagct cttactgaaa
1681 acgatgatag tgatgaatat gaagaaatgt cagaaatgaa agaagggaaa gcatgtaaac
1741 aacatgtgtc acaagggatt ttcatgacgc agccagctac gactatcgaa gcattttcag
1801 atgaggaagt agagatccca gaggagaagg aaggagcaga ggattcaaaa ggaaatggaa
1861 tagaggagca agaggtagaa gcaaatgagg aaaatgtgaa ggtgcatgga ggaagaaagg
1921 agaaaacaga gatcctatca gatgacctta cagacaaagc agaggatcat gaattttcta
1981 aaactgagga actaaaacta gaagatgtgg atgaggaaat taatgctgaa aatgtggaaa
2041 gcaagaagaa aactgtggga gatgatgaaa gtgttcctac aggttatcac agtaaaacag
2101 aaggagcaga aagaaccaat gatgatagct cagctgaaac tattgaaaag aaagaaaaag
2161 ccaacctaga ggaacgggcc atttgtgagt acaatgaaaa cccaaaagga tacatgcttg
2221 atgatgcaga tagcagttca ttagaaatcc tagaaaacag tgaaacaaca ccaagcaaag
2281 acatgaaaaa aacaaagaag atttttctgt tcaaaagagt cccctcaata aatcaaaaga
2341 ttgtcaagaa taacaatgag ccgctcccag agataaaatc cataggagac cagatcattt
2401 taaaaagtga taataaagat gccgaccaga accacatgag tcagaatcat cagaatatcc
2461 caccaacaaa tacagagaga agatcaaaat cctgtacaat actataaata tatatttatg
2521 ttttcacagt caccaagtgt attgtaatgt atacttgaaa aatgttataa cttatgaagt
2581 aaagtttctg atagtagtct ttaaaagata taagacttaa tatgttttat tcagcttcta
2641 taagtgtgac cagttttgat atttatttat gctaatattt ttaacaagtc atttcaaaat
2701 atgtgtatct caaattctcc ctaaagtgtt gtggccttaa ctgttcagta ttgcaataaa
2761 aaatatattt ttatatgtgg aaaa
//