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RILP Rab interacting lysosomal protein [ Homo sapiens (human) ]

Gene ID: 83547, updated on 21-Mar-2023

Summary

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Official Symbol
RILPprovided by HGNC
Official Full Name
Rab interacting lysosomal proteinprovided by HGNC
Primary source
HGNC:HGNC:30266
See related
Ensembl:ENSG00000167705 MIM:607848; AllianceGenome:HGNC:30266
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PP10141
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 RAB7, and both proteins act together in the regulation of late endocytic traffic. A unique region of this protein has also been shown to be involved in the regulation of lysosomal morphology. [provided by RefSeq, Sep 2011]
Expression
Ubiquitous expression in fat (RPKM 11.4), duodenum (RPKM 8.5) and 25 other tissues See more
Orthologs
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Genomic context

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See RILP in Genome Data Viewer
Location:
17p13.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (1646150..1649866, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (1534940..1538656, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1549444..1553160, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 43 member 2 Neighboring gene small nucleolar RNA U13 Neighboring gene scavenger receptor class F member 1 Neighboring gene pre-mRNA processing factor 8 Neighboring gene TLC domain containing 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. RILP inhibits proliferation, migration, and invasion of PC3 prostate cancer cells. Wang Z, et al. Acta Histochem, 2022 Oct. PMID 35981451
  2. RILP suppresses invasion of breast cancer cells by modulating the activity of RalA through interaction with RalGDS. Wang Z, et al. Cell Death Dis, 2015 Oct 15. PMID 26469971, Free PMC Article
  3. Late endosomal transport and tethering are coupled processes controlled by RILP and the cholesterol sensor ORP1L. van der Kant R, et al. J Cell Sci, 2013 Aug 1. PMID 23729732
  4. The Rab7 effector protein RILP controls lysosomal transport by inducing the recruitment of dynein-dynactin motors. Jordens I, et al. Curr Biol, 2001 Oct 30. PMID 11696325
  5. Methylation of RILP in lung cancer promotes tumor cell proliferation and invasion. Lin J, et al. Mol Cell Biochem, 2021 Feb. PMID 33128214

See all (56) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RILP inhibits proliferation, migration, and invasion of PC3 prostate cancer cells.
    Title: RILP inhibits proliferation, migration, and invasion of PC3 prostate cancer cells.
  2. Methylation of RILP in lung cancer promotes tumor cell proliferation and invasion.
    Title: Methylation of RILP in lung cancer promotes tumor cell proliferation and invasion.
  3. structural and biochemical investigation of the Rab7-ORP1L interaction revealed architecture that leaves the canonical effector-interacting switch regions available for RILP binding and thus allows formation of the ORP1L-Rab7-RILP tripartite complex.
    Title: A non-canonical GTPase interaction enables ORP1L-Rab7-RILP complex formation and late endosome positioning.
  4. Caspase-1 regulates cellular trafficking via cleavage of the Rab7 adaptor protein RILP in cultured neoplastic epithelial cells has been reported.
    Title: Caspase-1 regulates cellular trafficking via cleavage of the Rab7 adaptor protein RILP.
  5. Hepatitis C virus (HCV) modifies cellular trafficking by cleaving Rab interacting lysosomal protein (RILP), which serves to redirect ras-related protein Rab-7 (Rab7)-containing vesicles to a kinesin-dependent trafficking mode promoting virion secretion.
    Title: Hepatitis C virus promotes virion secretion through cleavage of the Rab7 adaptor protein RILP.
  6. RILP suppresses the invasion of breast cancer cells by interacting with RalGDS to inhibit its guanine nucleotide exchange factor activity for RalA.
    Title: RILP suppresses invasion of breast cancer cells by modulating the activity of RalA through interaction with RalGDS.
  7. RILP regulates vacuolar ATPase through interaction with the V1G1 subunit
    Title: RILP regulates vacuolar ATPase through interaction with the V1G1 subunit.
  8. VPS41 subunit of HOPS complex was defined to be the major partner for interacting with RILP.
    Title: RILP interacts with HOPS complex via VPS41 subunit to regulate endocytic trafficking.
  9. RILP regulates the activity of the V-ATPase through its interaction with V1G1.
    Title: RILP regulates vacuolar ATPase through interaction with the V1G1 subunit.
  10. RILP directly and concomitantly binds the tethering HOPS complex and the p150(Glued) subunit of the dynein motor. ORP1L then functions as a cholesterol-sensing switch controlling RILP-HOPS-p150(Glued) interactions.
    Title: Late endosomal transport and tethering are coupled processes controlled by RILP and the cholesterol sensor ORP1L.
Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag Rab7 and RILP direct endosome-associated HIV-1 Gag towards the microtubule-organizing center (MTOC) PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ31193

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dynein light intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables dynein light intermediate chain binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
  
enables small GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables small GTPase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables small GTPase binding TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in early endosome to late endosome transport IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in early endosome to late endosome transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endosome to lysosome transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endosome transport via multivesicular body sorting pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in intralumenal vesicle formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of protein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of multivesicular body size IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in late endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in late endosome NAS
Non-traceable Author Statement
more info
 PubMed 
located_in late endosome membrane IEA
Inferred from Electronic Annotation
more info
  
located_in lysosomal membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in lysosomal membrane TAS
Traceable Author Statement
more info
  
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in lysosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in phagocytic vesicle membrane IEA
Inferred from Electronic Annotation
more info
  
part_of protein-containing complex IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
rab-interacting lysosomal protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033061.1 RefSeqGene

    Range
    5233..8949
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_031430.3 → NP_113618.2  rab-interacting lysosomal protein

    See identical proteins and their annotated locations for NP_113618.2

    Status: REVIEWED

    Source sequence(s)
    AJ278711, BC004961
    Consensus CDS
    CCDS11009.1
    UniProtKB/Swiss-Prot
    Q96NA2, Q9BYS3
    Related
    ENSP00000301336.6, ENST00000301336.7
    Conserved Domains (2) summary
    pfam11461
    Location:245 → 302
    RILP; Rab interacting lysosomal protein
    cl23720
    Location:28 → 79
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    1646150..1649866 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187611.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    76178..79894 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    1534940..1538656 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96NA2.1 GenPept UniProtKB/Swiss-Prot:Q96NA2

Gene LinkOut

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