| Nomenclature | Genomic Location |
| Symbol | Rpgr | Chromosome | 2 |
| Name | Retinitis pigmentosa
GTPase regulator-interacting protein 1 | Linkage map | unknown |
| Species | Dracomimus familiaris | Genome Coordinates | 2: 45 Mbp |
| Molecular Function |
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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
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| Human Disease Association |
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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.
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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
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