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

Summary

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: mouse all
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Genomic context

Location:: 17p13.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (1646150..1649866, complement)
RS_2023_10	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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RILP inhibits proliferation, migration, and invasion of PC3 prostate cancer cells.
Title: RILP inhibits proliferation, migration, and invasion of PC3 prostate cancer cells.
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.
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.
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.
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.
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.
RILP regulates vacuolar ATPase through interaction with the V1G1 subunit
Title: RILP regulates vacuolar ATPase through interaction with the V1G1 subunit.
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.
RILP regulates the activity of the V-ATPase through its interaction with V1G1.
Title: RILP regulates vacuolar ATPase through interaction with the V1G1 subunit.
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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-W58284 (e-PCR)
- UniSTS:26463

STS-T96691 (e-PCR)
- UniSTS:67937

RH41938 (e-PCR)
- UniSTS:89762

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables dynein light intermediate chain binding	IBA Inferred from Biological aspect of Ancestor more info
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
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
involved_in early endosome to late endosome transport	IBA Inferred from Biological aspect of Ancestor more info
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
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor 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
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

NG_033061.1 RefSeqGene

Range

5233..8949

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

B2RBQ8, Q71RE6, Q96NA2, Q9BSL3, 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)