RILP (Rab interacting lysosomal protein)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 83547
Gene name Rab interacting lysosomal protein
Gene symbol RILP
Synonyms (NCBI Gene)
PP10141
Chromosome 17
Chromosome location 17p13.3
Summary This gene encodes a lysosomal protein that interacts with RAB7, a small GTPase that controls transport to endocytic degradative compartments. Studies using mutant forms of the two proteins suggest that this protein represents a downstream effector for RAB
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (33)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15933719, 17010938, 17959629, 18787122, 22261744, 25445562, 25500191, 26496610, 27113757, 30721249, 32814053, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0005764 Component Lysosome IBA
GO:0005764 Component Lysosome IDA 18272684
GO:0005764 Component Lysosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607848 30266 ENSG00000167705
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96NA2
Protein name Rab-interacting lysosomal protein
Protein function Rab effector playing a role in late endocytic transport to degradative compartments (PubMed:11179213, PubMed:11696325, PubMed:12944476, PubMed:14668488, PubMed:27113757). Involved in the regulation of lysosomal morphology and distribution (PubMe
PDB 1YHN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09744 Jnk-SapK_ap_N 28 → 181 JNK_SAPK-associated protein-1 Family
PF11461 RILP 244 → 302 Rab interacting lysosomal protein Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Strongly expressed in fetal heart, heart, stomach, spleen, adrenal gland, thyroid gland, salivary gland, fetal liver, liver and lung. Poorly expressed in brain. {ECO:0000269|PubMed:11179213, ECO:0000269|PubMed:11520070, ECO
Sequence 
MEPRRAAPGVPGWGSREAAGSASAAELVYHLAGALGTELQDLARRFGPEAAAGLVPLVVR
ALELLEQAAVGPAPDSLQVSAQPAEQELRRLREENERLRRELRAGPQEERALLRQLKEVT
DRQRDELRAHNRDLRQRGQETEALQEQLQRLLLVNAELRHKLAAMQTQLRAAQDRERERQ
QPGEAATPQAKERARGQAGRPGHQHGQEPEWATAGAGAPGNPEDPAEAAQQLGRPSEAGQ
CRFSREEFEQILQERNELKAKVFLLKEELAYFQRELLTDHRVPGLLLEAMKVAVRKQRKK
IKAKMLGTPEEAESSEDEAGPWILLSDDKGDHPPPPESKIQSFFGLWYRGKAESSEDETS
SPAPSKLGGEEEAQPQSPAPDPPCSALHEHLCLGASAAPEA
Sequence length 401
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Phagosome
Salmonella infection 		  MHC class II antigen presentation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
RETINITIS PIGMENTOSA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations