RILPL1
entrez
353116
canonical
uniprot
Q5EBL4
canonical
ensembl
ENSG00000188026
resolver
ensp
ENSP00000366070
resolver
ensp
ENSP00000490668
resolver
ensp
ENSP00000706008
resolver
ensp
ENSP00000782539
resolver
enst
ENST00000636882
resolver
genesymbol
RILPL1
resolver
genesymbol_syn
RLP1
resolver
hgnc
HGNC:26814
resolver
uniprot
A0A1B0GVV3
resolver
uniprot
Q66K36
resolver
uniprot
Q8N1M0
resolver
uniprot_entry
A0A1B0GVV3_HUMAN
resolver
uniprot_entry
RIPL1_HUMAN
resolver
uniprot_sec
Q66K36
resolver
uniprot_sec
Q8N1M0
resolver
amino_acid_sequence
MEEERGSALAAESALEKNVAELTVMDVYDIASLVGHEFERVIDQHGCEAIARLMPKVVRVLEILEVLVSRHHVAPELDELRLELDRLRLERMDRIEKERKHQKELELVEDVWRGEAQDLLSQIAQLQEENKQLMTNLSHKDVNFSEEEFQKHEGMSERERQVMKKLKEVVDKQRDEIRAKDRELGLKNEDVEALQQQQTRLMKINHDLRHRVTVVEAQGKALIEQKVELEADLQTKEQEMGSLRAELGKLRERLQGEHSQNGEEEPETEPVGEESISDAEKVAMDLKDPNRPRFTLQELRDVLHERNELKSKVFLLQEELAYYKSEEMEEENRIPQPPPIAHPRTSPQPESGIKRLFSFFSRDKKRLANTQRNVHIQESFGQWANTHRDDGYTEQGQEALQHL
uniprot
proteins
disease_involvement
DISEASE: Oculopharyngodistal myopathy 4 (OPDM4) [MIM:619790]: A form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM4 is an autosomal dominant form characterized by slow progression and onset of symptoms in the second or third decades. {ECO:0000269|PubMed:35148830}. Note=The disease is caused by variants affecting the gene represented in this entry. The causative mutation is a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the gene. The expansion ranges from 139 to 197 repeats in individuals with OPDM, and 9 to 1 repeats in controls. {ECO:0000269|PubMed:35148830}.
uniprot
proteins
function
FUNCTION: Plays a role in the regulation of cell shape and polarity (By similarity). Plays a role in cellular protein transport, including protein transport away from primary cilia (By similarity). Neuroprotective protein, which acts by sequestring GAPDH in the cytosol and prevent the apoptotic function of GAPDH in the nucleus (By similarity). Competes with SIAH1 for binding GAPDH (By similarity). Does not regulate lysosomal morphology and distribution (PubMed:14668488). Binds to RAB10 following LRRK2-mediated RAB10 phosphorylation which leads to inhibition of ciliogenesis (PubMed:30398148). {ECO:0000250|UniProtKB:D3ZUQ0, ECO:0000250|UniProtKB:Q9JJC6, ECO:0000269|PubMed:14668488, ECO:0000269|PubMed:30398148}.
uniprot
proteins
mass_dalton
47108
uniprot
proteins
mutagenesis
MUTAGEN 291; /note="R->L,E: Loss of interaction with RAB8A and RAB10."; /evidence="ECO:0000269|PubMed:29125462"; MUTAGEN 293; /note="R->L,E: Loss of interaction with RAB8A."; /evidence="ECO:0000269|PubMed:29125462"; MUTAGEN 300; /note="R->L,E: No loss of interaction with RAB8A."; /evidence="ECO:0000269|PubMed:29125462"; MUTAGEN 310; /note="K->L,E: Loss of interaction with RAB8A."; /evidence="ECO:0000269|PubMed:29125462"; MUTAGEN 324; /note="K->L,E: No loss of interaction with RAB8A."; /evidence="ECO:0000269|PubMed:29125462
uniprot
proteins
post_translational_modification
PTM: S-nitrosylation is required for the interaction with GAPDH. {ECO:0000250}.
uniprot
proteins
protein_family
RILPL family
uniprot
proteins
pubmed
14668488
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
29125462
uniprot
proteins
pubmed
30398148
uniprot
proteins
pubmed
35148830
uniprot
proteins
sequence_length
403
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:14668488, ECO:0000269|PubMed:30398148}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:30398148}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:30398148}.
uniprot
proteins