Home Search Reports Help

Gene Model: Rpgr

NomenclatureGenomic Location
SymbolRpgrChromosome2
NameRetinitis pigmentosa
GTPase regulator-interacting protein 1
Linkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates2: 45 Mbp

Molecular Function

Essential for RPGR function and is also required for normal disk morphogenesis.

Molecular Function Terms:

binding
   protein binding

enzyme regulator activity
   nucleoside-triphosphatase regulator activity
      GTPase regulator activity
         guanyl-nucleotide exchange factor activity

Human Disease Association

Defects in RPGRIP1 are the cause of Leber congenital amaurosis type 6 (LCA6) [MIM:613826]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children.

Defects in RPGRIP1 are the cause of cone-rod dystrophy type 13 (CORD13) [MIM:608194]. An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa.

Predicted Transcript
     1 GAATCAGGTGCTGTATTCACATTTGGAAAATGCAAATTTGCAGAAAACGTGCCTAGCAAG
    61 TTCTGGTTTAAAAACGACAAGCCTTTGCACATATCCTGTGGAGATGAACATACTTCTGTT
   121 GTCACAGAAAATGGTAAGCTTTATATGTTCGGAAGCAACAACTGGGGACAACTAGGATTT
   181 GGAAGTAAGAATGCCGTCAACAAGCCCACTTGTGTGAAAGCTTTAAAACCAGAAAAAGTA
   241 AAACTAGCTGCTTGTGGAAGAAACCACACTTTGATTTGTACAGAACAAGGAAATGTATAT
   301 GCTGCTGGAGGGAACAGTGAAGGGCAGTTGGGATTAGGTGACACAGAAGAACGCAGCACA
   361 TTTCATCTAATTAGTTTTTTTACCAAGCAGCACAAGATCAAACAGCTGGCAGCTGGATCC
   421 TACACATCAGCAGTGCTAACTGAGGATGGACAACTTGTTATGTGGGGAGACAATTCCGAA
   481 GGACAAATTGGCTTGGGTGATAAAGCTTATGTGTCTGTTCCTCATCAAGTGGACATTGGA
   541 AAACCAGTCTCCTGCATCTCTTGTGGGTATTACCACTCTGCCTTAATAACACAAGATGGC
   601 GAGCTTTATACTTTTGGGGAGCCTGAGAATGGGAAACTAGGTTTGTCACCAAAGCAACTA
   661 AAAAACCACAAGCTTCCTCAACTTGTTTCTGGAATTTCTGGTAAAGTCAGTAAAGTTGCA
   721 TGTGGAGGAGGACATACAGTAGTACTTGCAGAAGGAGATGTCTACACTTTTGGCCTTGGT
   781 CAGTATGGACAGCTTGGACATGGCACATTTGTTTTTGAAACCTCAGAACCAAAAACTGTG
   841 GATCATTTGGGAAAGCATAAAATTTGTCATATTGCATGTGGGGAAAATCATACAGCTTTA
   901 ATAACAGAGAATGGCCTCATGTATACCTTTGGAGATGGACGGCATGGCAAGTTAGGACTT
   961 GGGGAAGAAAATTACACCAATCAATTTGTACCTACCTTATGTTCCAATTTTTTGAGATTT
  1021 ATTGTACATTCGGTGGCCTGTGGTGGTTGTCATATGCTAGTTTTTGCCTCACCA

Predicted Protein Product
ESGAVFTFGKCKFAENVPSKFWFKNDKPLHISCGDEHTSVVTENGKLYMFGSNNWGQLGF
GSKNAVNKPTCVKALKPEKVKLAACGRNHTLICTEQGNVYAAGGNSEGQLGLGDTEERST
FHLISFFTKQHKIKQLAAGSYTSAVLTEDGQLVMWGDNSEGQIGLGDKAYVSVPHQVDIG
KPVSCISCGYYHSALITQDGELYTFGEPENGKLGLSPKQLKNHKLPQLVSGISGKVSKVA
CGGGHTVVLAEGDVYTFGLGQYGQLGHGTFVFETSEPKTVDHLGKHKICHIACGENHTAL
ITENGLMYTFGDGRHGKLGLGEENYTNQFVPTLCSNFLRFIVHSVACGGCHMLVFASP
Protein Alignment to Mouse
sp|Q9R0X5|RPGR_MOUSE X-linked retinitis pigmentosa GTPase regulator OS=Mus
            musculus GN=Rpgr PE=1 SV=1
      MGI:1344037 Rpgr retinitis pigmentosa GTPase regulator (Chr X)
        Length = 1001

 Score = 1471 (522.9 bits), Expect = 2.0e-151, P = 2.0e-151
 Identities = 266/358 (74%), Positives = 304/358 (84%)

Query:     1 ESGAVFTFGKCKFAENVPSKFWFKNDKPLHISCGDEHTSVVTENGKLYMFGSNNWGQLGF 60
             ++GAVFTFGK KFAEN+PSKFWFKND P+ +SCGDEHT++VT N KLYMFGSNNWGQLG 
Sbjct:    10 DTGAVFTFGKTKFAENIPSKFWFKNDIPICLSCGDEHTAIVTGNNKLYMFGSNNWGQLGL 69

Query:    61 GSKNAVNKPTCVKALKPEKVKLAACGRNHTLICTEQGNVYAAGGNSEGQLGLGDTEERST 120
             GSK A+ KPTC+KALKPEKVKLAACGRNHTL+ T+ G VYAAGGN+EGQLGLGDT++R T
Sbjct:    70 GSKAAIIKPTCIKALKPEKVKLAACGRNHTLVSTDTGGVYAAGGNNEGQLGLGDTDDRDT 129

Query:   121 FHLISFFTKQHKIKQLAAGSYTSAVLTEDGQLVMWGDNSEGQIGLGDKAYVSVPHQVDIG 180
             FH I FFT    IKQL+AG+ TSA LTEDG+L MWGDNSEGQIGL DK+ V +PH+V +G
Sbjct:   130 FHQIVFFTPADTIKQLSAGANTSAALTEDGKLFMWGDNSEGQIGLEDKSNVCIPHEVTVG 189

Query:   181 KPVSCISCGYYHSALITQDGELYTFGEPENGKLGLSPKQLKNHKLPQLVSGISGKVSKVA 240
             KP+S ISCGYYHSA +T DGELYTFGEPENGKLGL  + L NH+ PQ V GI  +V +VA
Sbjct:   190 KPISWISCGYYHSAFVTMDGELYTFGEPENGKLGLPNELLMNHRSPQRVLGIPERVIQVA 249

Query:   241 CGGGHTVVLAEGDVYTFGLGQYGQLGHGTFVFETSEPKTVDHLGKHKICHIACGENHTAL 300
             CGGGHTVVL E  VY FGLGQ+GQLG GTF+FETSEPK ++ +   KICHI+CGENHTAL
Sbjct:   250 CGGGHTVVLTEKVVYAFGLGQFGQLGLGTFLFETSEPKIIERIKDQKICHISCGENHTAL 309

Query:   301 ITENGLMYTFGDGRHGKLGLGEENYTNQFVPTLCSNFLRFIVHSVACGGCHMLVFASP 358
             +TE GL+YTFGDGRHGKLGLG EN+TNQF PTLCSNFLRF V  +ACGGCHMLVFA+P
Sbjct:   310 MTELGLLYTFGDGRHGKLGLGMENFTNQFFPTLCSNFLRFAVQLIACGGCHMLVFATP 367

 Score = 341 (125.1 bits), Expect = 1.8e-30, P = 1.8e-30
 Identities = 101/325 (31%), Positives = 155/325 (47%)

Query:    36 EHTSVVTENGKLYMFGSNNWGQ---LGFGSKNAVNKPTCVKALKPEKVKLAACGRNHTLI 92
             E  S+V + G ++ FG   + +     F  KN +  P C+           +CG  HT I
Sbjct:     3 ESESLVPDTGAVFTFGKTKFAENIPSKFWFKNDI--PICL-----------SCGDEHTAI 49

Query:    93 CTEQGNVYAAGGNSEGQLGLGDTEERSTFHLISFFTKQHKIKQLAAGSYTSAVLTEDGQL 152
              T    +Y  G N+ GQLGLG          I    K  K+K  A G   + V T+ G +
Sbjct:    50 VTGNNKLYMFGSNNWGQLGLGSKAAIIKPTCIKAL-KPEKVKLAACGRNHTLVSTDTGGV 108

Query:   153 VMWGDNSEGQIGLGDKAYVSVPHQVDIGKPVSCI---SCGYYHSALITQDGELYTFGEPE 209
                G N+EGQ+GLGD       HQ+    P   I   S G   SA +T+DG+L+ +G+  
Sbjct:   109 YAAGGNNEGQLGLGDTDDRDTFHQIVFFTPADTIKQLSAGANTSAALTEDGKLFMWGDNS 168

Query:   210 NGKLGLSPKQLKNHKLPQLVSGISGKVSKVACGGGHTV-VLAEGDVYTFGLGQYGQLG-H 267
              G++GL  K   N  +P  V+ +   +S ++CG  H+  V  +G++YTFG  + G+LG  
Sbjct:   169 EGQIGLEDKS--NVCIPHEVT-VGKPISWISCGYYHSAFVTMDGELYTFGEPENGKLGLP 225

Query:   268 GTFVFETSEPKTVDHLG-KHKICHIACGENHTALITENGLMYTFGDGRHGKLGLGEENYT 326
                +     P+ V  LG   ++  +ACG  HT ++TE  ++Y FG G+ G+LGLG   + 
Sbjct:   226 NELLMNHRSPQRV--LGIPERVIQVACGGGHTVVLTEK-VVYAFGLGQFGQLGLGTFLFE 282

Query:   327 NQFVPTLCSNFLRFIVHSVACGGCH 351
                 P +        +  ++CG  H
Sbjct:   283 TS-EPKIIERIKDQKICHISCGENH 306