UniProtKB - Q96NA2 (RILP_HUMAN)
Rab-interacting lysosomal protein
RILP
Functioni
GO - Molecular functioni
- dynein light intermediate chain binding Source: FlyBase
- protein dimerization activity Source: InterPro
- Rab GTPase binding Source: BHF-UCL
- small GTPase binding Source: ParkinsonsUK-UCL
GO - Biological processi
- antigen processing and presentation of exogenous peptide antigen via MHC class II Source: Reactome
- cilium assembly Source: GO_Central
- early endosome to late endosome transport Source: UniProtKB
- endosome to lysosome transport Source: BHF-UCL
- endosome transport via multivesicular body sorting pathway Source: UniProtKB
- intralumenal vesicle formation Source: UniProtKB
- negative regulation of protein catabolic process Source: UniProtKB
- positive regulation of protein catabolic process Source: UniProtKB
- protein transport Source: UniProtKB
- regulation of multivesicular body size Source: UniProtKB
Keywordsi
Biological process | Protein transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q96NA2 |
Reactomei | R-HSA-2132295, MHC class II antigen presentation |
Names & Taxonomyi
Protein namesi | Recommended name: Rab-interacting lysosomal protein |
Gene namesi | Name:RILP ORF Names:PP10141 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000167705.11 |
HGNCi | HGNC:30266, RILP |
MIMi | 607848, gene |
neXtProti | NX_Q96NA2 |
Subcellular locationi
Lysosome
- Lysosome membrane 3 Publications
Endosome
- Late endosome membrane 2 Publications
Other locations
- phagosome membrane 1 Publication
Note: Associated with late endosomal, lysosomal and phagosomal membranes. The interaction with RAB7A is necessary for its recruitment to phagosomes.1 Publication
Cytoskeleton
- ciliary basal body Source: GO_Central
Cytosol
- cytosol Source: GOC
Endosome
- late endosome Source: UniProtKB
- late endosome membrane Source: UniProtKB-SubCell
Lysosome
- lysosomal membrane Source: Reactome
- lysosome Source: BHF-UCL
Other locations
- cytoplasm Source: GO_Central
- phagocytic vesicle membrane Source: UniProtKB-SubCell
- protein-containing complex Source: Ensembl
Keywords - Cellular componenti
Cytoplasmic vesicle, Endosome, Lysosome, MembranePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 248 | F → A: Strongly reduces dimerization and localization to late endosomal/lysosomal compartments. 1 Publication | 1 | |
Mutagenesisi | 251 | I → A: Abolishes dimerization, interaction with RAB7A and localization to late endosomal/lysosomal compartments. 1 Publication | 1 | |
Mutagenesisi | 252 | L → A: Abolishes interaction with RAB7A and localization to late endosomal/lysosomal compartments. 1 Publication | 1 | |
Mutagenesisi | 255 | R → A: Abolishes dimerization, interaction with RAB7A and localization to late endosomal/lysosomal compartments. 1 Publication | 1 | |
Mutagenesisi | 258 | L → A: Reduces dimerization, interaction with RAB7A and localization to late endosomal/lysosomal compartments. 1 Publication | 1 | |
Mutagenesisi | 304 | K → A: Abolishes interaction with RAB7A and localization to late endosomal/lysosomal compartments. 1 Publication | 1 | |
Mutagenesisi | 305 | M → A: Abolishes interaction with RAB7A and localization to late endosomal/lysosomal compartments. 1 Publication | 1 | |
Mutagenesisi | 306 | L → A: Abolishes interaction with RAB7A and localization to late endosomal/lysosomal compartments. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 83547 |
OpenTargetsi | ENSG00000167705 |
PharmGKBi | PA134915969 |
Miscellaneous databases
Pharosi | Q96NA2, Tbio |
Polymorphism and mutation databases
BioMutai | RILP |
DMDMi | 74732524 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000097339 | 1 – 401 | Rab-interacting lysosomal proteinAdd BLAST | 401 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 308 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 314 | PhosphoserineCombined sources | 1 | |
Modified residuei | 315 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q96NA2 |
jPOSTi | Q96NA2 |
MassIVEi | Q96NA2 |
MaxQBi | Q96NA2 |
PaxDbi | Q96NA2 |
PeptideAtlasi | Q96NA2 |
PRIDEi | Q96NA2 |
ProteomicsDBi | 77494 [Q96NA2-1] 77495 [Q96NA2-2] |
PTM databases
iPTMneti | Q96NA2 |
PhosphoSitePlusi | Q96NA2 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000167705, Expressed in apex of heart and 212 other tissues |
ExpressionAtlasi | Q96NA2, baseline and differential |
Genevisiblei | Q96NA2, HS |
Organism-specific databases
HPAi | ENSG00000167705, Tissue enhanced (skeletal) |
Interactioni
Subunit structurei
Homodimer (PubMed:15996637, PubMed:15933719).
Interacts with RAB7A (PubMed:11179213, PubMed:14668488, PubMed:22431521).
Interacts with RAB34 (PubMed:14668488, PubMed:12475955, PubMed:27113757).
Identified in a complex with MREG and DCTN1; interacts directly with MREG (By similarity).
Interacts with CLN3 (PubMed:22261744).
Interacts with FLCN; the interaction is direct and promotes association between RILP and RAB34 (PubMed:27113757).
By similarity8 PublicationsBinary interactionsi
Hide detailsGO - Molecular functioni
- dynein light intermediate chain binding Source: FlyBase
- protein dimerization activity Source: InterPro
- Rab GTPase binding Source: BHF-UCL
- small GTPase binding Source: ParkinsonsUK-UCL
Protein-protein interaction databases
BioGRIDi | 123679, 12 interactors |
DIPi | DIP-29458N |
IntActi | Q96NA2, 12 interactors |
STRINGi | 9606.ENSP00000301336 |
Miscellaneous databases
RNActi | Q96NA2, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q96NA2 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q96NA2 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 11 – 101 | RH1PROSITE-ProRule annotationAdd BLAST | 91 | |
Domaini | 240 – 316 | RH2PROSITE-ProRule annotationAdd BLAST | 77 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 272 – 333 | Necessary for interaction with RAB7A and RAB34, lysosomal distribution and morphologyAdd BLAST | 62 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 75 – 181 | Sequence analysisAdd BLAST | 107 |
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502RXH1, Eukaryota |
GeneTreei | ENSGT00940000161117 |
HOGENOMi | CLU_044133_1_0_1 |
InParanoidi | Q96NA2 |
OMAi | ALHEHLC |
OrthoDBi | 890179at2759 |
PhylomeDBi | Q96NA2 |
TreeFami | TF313489 |
Family and domain databases
InterProi | View protein in InterPro IPR019143, JNK/Rab-associated_protein-1_N IPR034743, RH1 IPR034744, RH2 IPR021563, RILP_dimer |
Pfami | View protein in Pfam PF09744, Jnk-SapK_ap_N, 1 hit PF11461, RILP, 1 hit |
PROSITEi | View protein in PROSITE PS51776, RH1, 1 hit PS51777, RH2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEPRRAAPGV PGWGSREAAG SASAAELVYH LAGALGTELQ DLARRFGPEA
60 70 80 90 100
AAGLVPLVVR ALELLEQAAV GPAPDSLQVS AQPAEQELRR LREENERLRR
110 120 130 140 150
ELRAGPQEER ALLRQLKEVT DRQRDELRAH NRDLRQRGQE TEALQEQLQR
160 170 180 190 200
LLLVNAELRH KLAAMQTQLR AAQDRERERQ QPGEAATPQA KERARGQAGR
210 220 230 240 250
PGHQHGQEPE WATAGAGAPG NPEDPAEAAQ QLGRPSEAGQ CRFSREEFEQ
260 270 280 290 300
ILQERNELKA KVFLLKEELA YFQRELLTDH RVPGLLLEAM KVAVRKQRKK
310 320 330 340 350
IKAKMLGTPE EAESSEDEAG PWILLSDDKG DHPPPPESKI QSFFGLWYRG
360 370 380 390 400
KAESSEDETS SPAPSKLGGE EEAQPQSPAP DPPCSALHEH LCLGASAAPE
A
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketI3L1U0 | I3L1U0_HUMAN | Rab-interacting lysosomal protein | RILP | 226 | Annotation score: | ||
A0A0J9YWQ1 | A0A0J9YWQ1_HUMAN | Rab-interacting lysosomal protein | RILP | 226 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 284 | G → S in CAC33443 (PubMed:11179213).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_051321 | 81 | A → T1 PublicationCorresponds to variant dbSNP:rs9909321Ensembl. | 1 | |
Natural variantiVAR_034417 | 281 | R → Q. Corresponds to variant dbSNP:rs34982553Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_016043 | 1 – 210 | Missing in isoform 2. 1 PublicationAdd BLAST | 210 | |
Alternative sequenceiVSP_016044 | 211 – 213 | WAT → MGA in isoform 2. 1 Publication | 3 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ404317 mRNA Translation: CAC33443.1 AK055755 mRNA Translation: BAB71003.1 AK314767 mRNA Translation: BAG37305.1 AF370391 mRNA Translation: AAQ15227.1 AJ278711 mRNA Translation: CAC82174.1 BC004961 mRNA Translation: AAH04961.1 BC031621 mRNA Translation: AAH31621.1 |
CCDSi | CCDS11009.1 [Q96NA2-1] |
RefSeqi | NP_113618.2, NM_031430.2 [Q96NA2-1] |
Genome annotation databases
Ensembli | ENST00000301336; ENSP00000301336; ENSG00000167705 [Q96NA2-1] ENST00000622136; ENSP00000481849; ENSG00000274145 [Q96NA2-1] |
GeneIDi | 83547 |
KEGGi | hsa:83547 |
UCSCi | uc002ftd.4, human [Q96NA2-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ404317 mRNA Translation: CAC33443.1 AK055755 mRNA Translation: BAB71003.1 AK314767 mRNA Translation: BAG37305.1 AF370391 mRNA Translation: AAQ15227.1 AJ278711 mRNA Translation: CAC82174.1 BC004961 mRNA Translation: AAH04961.1 BC031621 mRNA Translation: AAH31621.1 |
CCDSi | CCDS11009.1 [Q96NA2-1] |
RefSeqi | NP_113618.2, NM_031430.2 [Q96NA2-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1YHN | X-ray | 3.00 | B | 244-308 | [»] | |
SMRi | Q96NA2 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 123679, 12 interactors |
DIPi | DIP-29458N |
IntActi | Q96NA2, 12 interactors |
STRINGi | 9606.ENSP00000301336 |
PTM databases
iPTMneti | Q96NA2 |
PhosphoSitePlusi | Q96NA2 |
Polymorphism and mutation databases
BioMutai | RILP |
DMDMi | 74732524 |
Proteomic databases
EPDi | Q96NA2 |
jPOSTi | Q96NA2 |
MassIVEi | Q96NA2 |
MaxQBi | Q96NA2 |
PaxDbi | Q96NA2 |
PeptideAtlasi | Q96NA2 |
PRIDEi | Q96NA2 |
ProteomicsDBi | 77494 [Q96NA2-1] 77495 [Q96NA2-2] |
Protocols and materials databases
Antibodypediai | 42527, 73 antibodies |
DNASUi | 83547 |
Genome annotation databases
Ensembli | ENST00000301336; ENSP00000301336; ENSG00000167705 [Q96NA2-1] ENST00000622136; ENSP00000481849; ENSG00000274145 [Q96NA2-1] |
GeneIDi | 83547 |
KEGGi | hsa:83547 |
UCSCi | uc002ftd.4, human [Q96NA2-1] |
Organism-specific databases
CTDi | 83547 |
DisGeNETi | 83547 |
EuPathDBi | HostDB:ENSG00000167705.11 |
GeneCardsi | RILP |
HGNCi | HGNC:30266, RILP |
HPAi | ENSG00000167705, Tissue enhanced (skeletal) |
MIMi | 607848, gene |
neXtProti | NX_Q96NA2 |
OpenTargetsi | ENSG00000167705 |
PharmGKBi | PA134915969 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502RXH1, Eukaryota |
GeneTreei | ENSGT00940000161117 |
HOGENOMi | CLU_044133_1_0_1 |
InParanoidi | Q96NA2 |
OMAi | ALHEHLC |
OrthoDBi | 890179at2759 |
PhylomeDBi | Q96NA2 |
TreeFami | TF313489 |
Enzyme and pathway databases
PathwayCommonsi | Q96NA2 |
Reactomei | R-HSA-2132295, MHC class II antigen presentation |
Miscellaneous databases
BioGRID-ORCSi | 83547, 44 hits in 839 CRISPR screens |
ChiTaRSi | RILP, human |
EvolutionaryTracei | Q96NA2 |
GeneWikii | RILP_(gene) |
GenomeRNAii | 83547 |
Pharosi | Q96NA2, Tbio |
PROi | PR:Q96NA2 |
RNActi | Q96NA2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000167705, Expressed in apex of heart and 212 other tissues |
ExpressionAtlasi | Q96NA2, baseline and differential |
Genevisiblei | Q96NA2, HS |
Family and domain databases
InterProi | View protein in InterPro IPR019143, JNK/Rab-associated_protein-1_N IPR034743, RH1 IPR034744, RH2 IPR021563, RILP_dimer |
Pfami | View protein in Pfam PF09744, Jnk-SapK_ap_N, 1 hit PF11461, RILP, 1 hit |
PROSITEi | View protein in PROSITE PS51776, RH1, 1 hit PS51777, RH2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RILP_HUMAN | |
Accessioni | Q96NA2Primary (citable) accession number: Q96NA2 Secondary accession number(s): B2RBQ8 Q9BYS3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 8, 2005 |
Last sequence update: | December 1, 2001 | |
Last modified: | December 2, 2020 | |
This is version 158 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations