Gene Gene information from NCBI Gene database.
Entrez ID 353116
Gene name Rab interacting lysosomal protein like 1
Gene symbol RILPL1
Synonyms (NCBI Gene)
GOSPELOPDM4RLP1
Chromosome 12
Chromosome location 12q24.31
miRNA miRNA information provided by mirtarbase database.
164
miRTarBase ID miRNA Experiments Reference
MIRT455117 hsa-miR-548ao-3p HITS-CLIP 19536157
MIRT713497 hsa-miR-377-5p HITS-CLIP 19536157
MIRT713495 hsa-miR-6086 HITS-CLIP 19536157
MIRT713496 hsa-miR-6499-3p HITS-CLIP 19536157
MIRT713494 hsa-miR-658 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0003382 Process Epithelial cell morphogenesis IEA
GO:0003382 Process Epithelial cell morphogenesis ISS
GO:0005515 Function Protein binding IPI 29125462, 32296183
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614092 26814 ENSG00000188026
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5EBL4
Protein name RILP-like protein 1 (Rab-interacting lysosomal-like protein 1)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09744 Jnk-SapK_ap_N 27 175 JNK_SAPK-associated protein-1 Family
PF11461 RILP 295 350 Rab interacting lysosomal protein Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed at lower level in liver and kidney. {ECO:0000269|PubMed:14668488}.
Sequence
MEEERGSALAAESALEKNVAELTVMDVYDIASLVGHEFERVIDQHGCEAIARLMPKVVRV
LEILEVLVSRHHVAPELDELRLELDRLRLERMDRIEKERKHQKELELVEDVWRGEAQDLL
SQIAQLQEENKQLMTNLSHKDVNFSEEEFQKHEGMSERERQVMKKLKEVVDKQRD
EIRAK
DRELGLKNEDVEALQQQQTRLMKINHDLRHRVTVVEAQGKALIEQKVELEADLQTKEQEM
GSLRAELGKLRERLQGEHSQNGEEEPETEPVGEESISDAEKVAMDLKDPNRPRFTLQELR
DVLHERNELKSKVFLLQEELAYYKSEEMEEENRIPQPPPIAHPRTSPQPE
SGIKRLFSFF
SRDKKRLANTQRNVHIQESFGQWANTHRDDGYTEQGQEALQHL
Sequence length 403
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OCULOPHARYNGODISTAL MYOPATHY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Oculopharyngodistal myopathy 4 Uncertain significance ClinVar
ClinVar, Disgenet, GenCC, HPO
ClinVar, Disgenet, GenCC, HPO
ClinVar, Disgenet, GenCC, HPO
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Leukemia Myeloid Acute Associate 36212177
★☆☆☆☆
Found in Text Mining only
Oculopharyngodistal Myopathy Associate 35148830, 37864208
★★☆☆☆
Found in Text Mining + Unknown/Other Associations