RPGRIP1L
entrez
23322
canonical
uniprot
Q68CZ1
canonical
ensembl
ENSG00000103494
resolver
ensp
ENSP00000262135
resolver
ensp
ENSP00000455451
resolver
ensp
ENSP00000457889
resolver
ensp
ENSP00000458705
resolver
ensp
ENSP00000480698
resolver
ensp
ENSP00000493946
resolver
ensp
ENSP00000502853
resolver
ensp
ENSP00000615004
resolver
enst
ENST00000563746
resolver
enst
ENST00000566096
resolver
enst
ENST00000568653
resolver
enst
ENST00000621565
resolver
enst
ENST00000679110
resolver
genesymbol
RPGRIP1L
resolver
genesymbol_syn
FTM
resolver
genesymbol_syn
KIAA1005
resolver
genesymbol_syn
NPHP8
resolver
hgnc
HGNC:29168
resolver
uniprot
A0A087WX34
resolver
uniprot
A0PJ88
resolver
uniprot
B7ZKJ9
resolver
uniprot
H3BPS4
resolver
uniprot
H3BV03
resolver
uniprot
I3L1B5
resolver
uniprot
Q9Y2K8
resolver
uniprot_entry
A0A087WX34_HUMAN
resolver
uniprot_entry
B7ZKJ9_HUMAN
resolver
uniprot_entry
FTM_HUMAN
resolver
uniprot_entry
H3BPS4_HUMAN
resolver
uniprot_entry
H3BV03_HUMAN
resolver
uniprot_entry
I3L1B5_HUMAN
resolver
uniprot_sec
A0PJ88
resolver
uniprot_sec
Q9Y2K8
resolver
amino_acid_sequence
MSGPTDETAGDLPVKDTGLNLFGMGGLQETSTTRTMKSRQAVSRVSREELEDRFLRLHDENILLKQHARKQEDKIKRMATKLIRLVNDKKRYERVGGGPKRLGRDVEMEEMIEQLQEKVHELEKQNETLKNRLISAKQQLQTQGYRQTPYNNVQSRINTGRRKANENAGLQECPRKGIKFQDADVAETPHPMFTKYGNSLLEEARGEIRNLENVIQSQRGQIEELEHLAEILKTQLRRKENEIELSLLQLREQQATDQRSNIRDNVEMIKLHKQLVEKSNALSAMEGKFIQLQEKQRTLRISHDALMANGDELNMQLKEQRLKCCSLEKQLHSMKFSERRIEELQDRINDLEKERELLKENYDKLYDSAFSAAHEEQWKLKEQQLKVQIAQLETALKSDLTDKTEILDRLKTERDQNEKLVQENRELQLQYLEQKQQLDELKKRIKLYNQENDINADELSEALLLIKAQKEQKNGDLSFLVKVDSEINKDLERSMRELQATHAETVQELEKTRNMLIMQHKINKDYQMEVEAVTRKMENLQQDYELKVEQYVHLLDIRAARIHKLEAQLKDIAYGTKQYKFKPEIMPDDSVDEFDETIHLERGENLFEIHINKVTFSSEVLQASGDKEPVTFCTYAFYDFELQTTPVVRGLHPEYNFTSQYLVHVNDLFLQYIQKNTITLEVHQAYSTEYETIAACQLKFHEILEKSGRIFCTASLIGTKGDIPNFGTVEYWFRLRVPMDQAIRLYRERAKALGYITSNFKGPEHMQSLSQQAPKTAQLSSTDSTDGNLNELHITIRCCNHLQSRASHLQPHPYVVYKFFDFADHDTAIIPSSNDPQFDDHMYFPVPMNMDLDRYLKSESLSFYVFDDSDTQENIYIGKVNVPLISLAHDRCISGIFELTDHQKHPAGTIHVILKWKFAYLPPSGSITTEDLGNFIRSEEPEVVQRLPPASSVSTLVLAPRPKPRQRLTPVDKKVSFVDIMPHQSDETSPPPEDRKEISPEVEHIPEIEINMLTVPHVPKVSQEGSVDEVKENTEKMQQGKDDVSLLSEGQLAEQSLASSEDETEITEDLEPEVEEDMSASDSDDCIIPGPISKNIKQSLALSPGLGCSSAISAHCNFRLPGSSDFPASASQVDGITGACHHTQPSEKIRIEIIALSLNDSQVTMDDTIQRLFVECRFYSLPAEETPVSLPKPKSGQWVYYNYSNVIYVDKENNKAKRDILKAILQKQEMPNRSLRFTVVSDPPEDEQDLECEDIGVAHVDLADMFQEGRDLIEQNIDVFDARADGEGIGKLRVTVEALHALQSVYKQYRDDLEA
uniprot
proteins
disease_involvement
DISEASE: Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including RPGRIP1L, influence the clinical outcome. {ECO:0000269|PubMed:19430481, ECO:0000269|PubMed:21258341}.; DISEASE: Joubert syndrome 7 (JBTS7) [MIM:611560]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269|PubMed:17558407, ECO:0000269|PubMed:17558409, ECO:0000269|PubMed:17960139, ECO:0000269|PubMed:22693042}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Meckel syndrome 5 (MKS5) [MIM:611561]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269|PubMed:17558409, ECO:0000269|PubMed:19430481}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: COACH syndrome 3 (COACH3) [MIM:619113]: A form of COACH syndrome, a disorder characterized by cerebellar vermis hypoplasia, developmental delay, impaired intellectual development, ataxia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. COACH3 inheritance is autosomal recessive. {ECO:0000269|PubMed:19574260}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Negatively regulates signaling through the G protein-coupled thromboxane A2 receptor (TBXA2R) (PubMed:19464661). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis (By similarity). Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis (PubMed:19464661). Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins (By similarity). Involved in regulation of proteasomal activity at the primary cilium probably implicating association with PSDM2 (By similarity). {ECO:0000250|UniProtKB:Q8CG73, ECO:0000269|PubMed:19464661}.
uniprot
proteins
mass_dalton
151201
uniprot
proteins
protein_family
RPGRIP1 family
uniprot
proteins
pubmed
10231032
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
17434869
uniprot
proteins
pubmed
17558407
uniprot
proteins
pubmed
17558409
uniprot
proteins
pubmed
17960139
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19430481
uniprot
proteins
pubmed
19464661
uniprot
proteins
pubmed
19574260
uniprot
proteins
pubmed
21258341
uniprot
proteins
pubmed
21565611
uniprot
proteins
pubmed
21685204
uniprot
proteins
pubmed
22693042
uniprot
proteins
pubmed
22927466
uniprot
proteins
sequence_length
1315
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q8CG73, ECO:0000269|PubMed:21685204}. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:Q8CG73}. Cell junction, tight junction {ECO:0000250|UniProtKB:Q8CG73}. Note=In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions. Localizes to the ciliary transition zone. {ECO:0000250|UniProtKB:Q8CG73}.
uniprot
proteins