RPGRIP1
entrez
57096
canonical
uniprot
Q96KN7
canonical
ensembl
ENSG00000092200
resolver
ensp
ENSP00000372391
resolver
ensp
ENSP00000382895
resolver
ensp
ENSP00000451262
resolver
genesymbol
RPGRIP1
resolver
hgnc
HGNC:13436
resolver
uniprot
Q7Z2W6
resolver
uniprot
Q8IXV5
resolver
uniprot
Q96QA8
resolver
uniprot
Q9HB94
resolver
uniprot
Q9HB95
resolver
uniprot
Q9HBK6
resolver
uniprot
Q9NR40
resolver
uniprot_entry
RPGR1_HUMAN
resolver
uniprot_sec
Q7Z2W6
resolver
uniprot_sec
Q8IXV5
resolver
uniprot_sec
Q96QA8
resolver
uniprot_sec
Q9HB94
resolver
uniprot_sec
Q9HB95
resolver
uniprot_sec
Q9HBK6
resolver
uniprot_sec
Q9NR40
resolver
amino_acid_sequence
MSHLVDPTSGDLPVRDIDAIPLVLPASKGKNMKTQPPLSRMNREELEDSFFRLREDHMLVKELSWKQQDEIKRLRTTLLRLTAAGRDLRVAEEAAPLSETARRGQKAGWRQRLSMHQRPQMHRLQGHFHCVGPASPRRAQPRVQVGHRQLHTAGAPVPEKPKRGPRDRLSYTAPPSFKEHATNENRGEVASKPSELVSGSNSIISFSSVISMAKPIGLCMPNSAHIMASNTMQVEEPPKSPEKMWPKDENFEQRSSLECAQKAAELRASIKEKVELIRLKKLLHERNASLVMTKAQLTEVQEAYETLLQKNQGILSAAHEALLKQVNELRAELKEESKKAVSLKSQLEDVSILQMTLKEFQERVEDLEKERKLLNDNYDKLLESMLDSSDSSSQPHWSNELIAEQLQQQVSQLQDQLDAELEDKRKVLLELSREKAQNEDLKLEVTNILQKHKQEVELLQNAATISQPPDRQSEPATHPAVLQENTQIEPSEPKNQEEKKLSQVLNELQVSHAETTLELEKTRDMLILQRKINVCYQEELEAMMTKADNDNRDHKEKLERLTRLLDLKNNRIKQLEGILRSHDLPTSEQLKDVAYGTRPLSLCLETLPAHGDEDKVDISLLHQGENLFELHIHQAFLTSAALAQAGDTQPTTFCTYSFYDFETHCTPLSVGPQPLYDFTSQYVMETDSLFLHYLQEASARLDIHQAMASEHSTLAAGWICFDRVLETVEKVHGLATLIGAGGEEFGVLEYWMRLRFPIKPSLQACNKRKKAQVYLSTDVLGGRKAQEEEFRSESWEPQNELWIEITKCCGLRSRWLGTQPSPYAVYRFFTFSDHDTAIIPASNNPYFRDQARFPVLVTSDLDHYLRREALSIHVFDDEDLEPGSYLGRARVPLLPLAKNESIKGDFNLTDPAEKPNGSIQVQLDWKFPYIPPESFLKPEAQTKGKDTKDSSKISSEEEKASFPSQDQMASPEVPIEAGQYRSKRKPPHGGERKEKEHQVVSYSRRKHGKRIGVQGKNRMEYLSLNILNGNTPEQVNYTEWKFSETNSFIGDGFKNQHEEEEMTLSHSALKQKEPLHPVNDKESSEQGSEVSEAQTTDSDDVIVPPMSQKYPKADSEKMCIEIVSLAFYPEAEVMSDENIKQVYVEYKFYDLPLSETETPVSLRKPRAGEEIHFHFSKVIDLDPQEQQGRRRFLFDMLNGQDPDQGHLKFTVVSDPLDEEKKECEEVGYAYLQLWQILESGRDILEQELDIVSPEDLATPIGRLKVSLQAAAVLHAIYKEMTEDLFS
uniprot
proteins
disease_involvement
DISEASE: Leber congenital amaurosis 6 (LCA6) [MIM:613826]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269|PubMed:11528500, ECO:0000269|PubMed:17306875, ECO:0000269|PubMed:17554762, ECO:0000269|PubMed:18682808, ECO:0000269|PubMed:24981858}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cone-rod dystrophy 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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:10958648, ECO:0000269|PubMed:12920076}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Heterozygous non-synonymous variants of RPGRIP1 may cause or increase the susceptibility to various forms of glaucoma, a genetically heterogeneous disorder. It is the second cause of blindness worldwide owing to the progressive degeneration of retinal ganglion neurons (PubMed:21224891). {ECO:0000269|PubMed:21224891}.
uniprot
proteins
function
FUNCTION: May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells. {ECO:0000250|UniProtKB:Q9EPQ2, ECO:0000305|PubMed:10958648}.
uniprot
proteins
mass_dalton
146682
uniprot
proteins
mutagenesis
MUTAGEN 1121; /note="E->A: Nearly abolishes interaction with RPGR; when associated with A-1174 and A-1245."; /evidence="ECO:0000269|PubMed:24981858"; MUTAGEN 1121; /note="E->K: Decreases interaction with RPGR."; /evidence="ECO:0000269|PubMed:24981858"; MUTAGEN 1174; /note="H->A: Nearly abolishes interaction with RPGR; when associated with A-1121 and A-1245."; /evidence="ECO:0000269|PubMed:24981858"; MUTAGEN 1174; /note="H->D: Abolishes interaction with RPGR."; /evidence="ECO:0000269|PubMed:24981858"; MUTAGEN 1245; /note="E->A: Nearly abolishes interaction with RPGR; when associated with A-1121 and A-1174."; /evidence="ECO:0000269|PubMed:24981858"; MUTAGEN 1245; /note="E->K: No effect on interaction with RPGR."; /evidence="ECO:0000269|PubMed:24981858
uniprot
proteins
protein_family
RPGRIP1 family
uniprot
proteins
pubmed
10958647
uniprot
proteins
pubmed
10958648
uniprot
proteins
pubmed
11528500
uniprot
proteins
pubmed
12140192
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
12920076
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16339905
uniprot
proteins
pubmed
17306875
uniprot
proteins
pubmed
17554762
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18682808
uniprot
proteins
pubmed
20200501
uniprot
proteins
pubmed
21224891
uniprot
proteins
pubmed
21602930
uniprot
proteins
pubmed
21685204
uniprot
proteins
pubmed
24981858
uniprot
proteins
pubmed
25398945
uniprot
proteins
pubmed
34427245
uniprot
proteins
sequence_length
1286
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:21685204}. Note=Situated between the axonemal microtubules and the plasma membrane (By similarity). In the retinal photoreceptor cell layer, localizes at the connecting cilium, a thin bridge linking the cell body and the light-sensing outer segment (By similarity). Colocalizes with RGPR in the photoreceptor connecting cilium (By similarity). {ECO:0000250|UniProtKB:Q9EPQ2}.
uniprot
proteins