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 ... See more...

Aliases for RILP Gene

Aliases for RILP Gene

  • Rab Interacting Lysosomal Protein 2 3 5
  • Rab-Interacting Lysosomal Protein 3 4
  • PP10141 3

External Ids for RILP Gene

Previous GeneCards Identifiers for RILP Gene

  • GC17P001625
  • GC17M001885
  • GC17M001500
  • GC17M001756
  • GC17M001732
  • GC17M001496
  • GC17M001549
  • GC17M001448

Summaries for RILP Gene

Entrez Gene Summary for RILP Gene

  • 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]

GeneCards Summary for RILP Gene

RILP (Rab Interacting Lysosomal Protein) is a Protein Coding gene. Diseases associated with RILP include Retinitis Pigmentosa. Among its related pathways are Phagosome and wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF). Gene Ontology (GO) annotations related to this gene include Rab GTPase binding. An important paralog of this gene is RILPL1.

UniProtKB/Swiss-Prot Summary for RILP Gene

  • Rab effector playing a role in late endocytic transport to degradative compartments. Involved in the regulation of lysosomal morphology and distribution. Induces recruitment of dynein-dynactin motor complexes to Rab7A-containing late endosome and lysosome compartments. Promotes centripetal migration of phagosomes and the fusion of phagosomes with the late endosomes and lysosomes.

Gene Wiki entry for RILP Gene

Additional gene information for RILP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RILP Gene

Genomics for RILP Gene

GeneHancer (GH) Regulatory Elements for RILP Gene

Promoters and enhancers for RILP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J001647 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 764.9 +0.5 468 3.8 ZNF785 SIN3A SP1 CTCF ZBTB6 RBPJ SMARCE1 POLR2A HCFC1 MYC RILP SMYD4 SMG6 HNRNPA1P16 METTL16 DPH1 TLCD2 MIR22 WDR81 MIR22HG
GH17J001573 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.1 +73.6 73618 5.2 CTCF ZBTB6 FOXA1 RBPJ NFYC HLF MAX RAD21 NFIB ZBTB33 RF00017-2207 NONHSAG020466.2 piR-59489 SLC43A2 SCARF1 RILP YWHAE lnc-PITPNA-2
GH17J001666 Enhancer 1 Ensembl ENCODE 11.4 -19.0 -18999 5 SIN3A CTCF FOXA1 POLR2A MIXL1 ZNF121 RAD21 ELF3 SP1 IKZF1 RILP DPH1 lnc-RILP-2 PRPF8 piR-51980 NONHSAG020469.2
GH17J001642 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.4 +5.0 4997 5 SP1 CTCF ETV6 RELA ZNF121 MNT ZNF280D ZNF148 NKRF POLR2A SCARF1 lnc-RILP-1 RILP RF00017-2211 NONHSAG020469.2
GH17J001581 Enhancer 0.6 ENCODE dbSUPER 12.1 +68.3 68283 2 ZFHX2 GATA3 XRCC5 lnc-PITPNA-2 SLC43A2 SCARF1 RILP YWHAE NONHSAG020466.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RILP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RILP gene promoter:
  • AML1a
  • c-Ets-1
  • E47
  • Lmo2
  • NF-E2
  • NF-E2 p45
  • Nkx5-1
  • Tal-1
  • ZID

Genomic Locations for RILP Gene

Genomic Locations for RILP Gene
chr17:1,646,145-1,650,098
(GRCh38/hg38)
Size:
3,954 bases
Orientation:
Minus strand
chr17:1,549,444-1,553,392
(GRCh37/hg19)
Size:
3,949 bases
Orientation:
Minus strand

Genomic View for RILP Gene

Genes around RILP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RILP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RILP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RILP Gene

Proteins for RILP Gene

  • Protein details for RILP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NA2-RILP_HUMAN
    Recommended name:
    Rab-interacting lysosomal protein
    Protein Accession:
    Q96NA2
    Secondary Accessions:
    • B2RBQ8
    • Q71RE6
    • Q9BSL3
    • Q9BYS3

    Protein attributes for RILP Gene

    Size:
    401 amino acids
    Molecular mass:
    44200 Da
    Quaternary structure:
    • Homodimer (PubMed:15996637, PubMed:15933719). Interacts with RAB7A (PubMed:11179213, PubMed:14668488, PubMed:22431521). Interacts with RAB34 (PubMed:14668488, PubMed:12475955). Identified in a complex with MREG and DCTN1; interacts directly with MREG (By similarity). Interacts with CLN3 (PubMed:22261744).

    Three dimensional structures from OCA and Proteopedia for RILP Gene

    Alternative splice isoforms for RILP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RILP Gene

Post-translational modifications for RILP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RILP Gene

No data available for DME Specific Peptides for RILP Gene

Domains & Families for RILP Gene

Gene Families for RILP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RILP Gene

Suggested Antigen Peptide Sequences for RILP Gene

GenScript: Design optimal peptide antigens:
  • REST/NRSF-interacting LIM domain protein (Q687H3_HUMAN)
  • REST/NRSF-interacting LIM domain protein (Q687H4_HUMAN)
  • Rab-interacting lysosomal protein (RILP_HUMAN)
genes like me logo Genes that share domains with RILP: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RILP Gene

Function for RILP Gene

Molecular function for RILP Gene

UniProtKB/Swiss-Prot Function:
Rab effector playing a role in late endocytic transport to degradative compartments. Involved in the regulation of lysosomal morphology and distribution. Induces recruitment of dynein-dynactin motor complexes to Rab7A-containing late endosome and lysosome compartments. Promotes centripetal migration of phagosomes and the fusion of phagosomes with the late endosomes and lysosomes.

Phenotypes From GWAS Catalog for RILP Gene

Gene Ontology (GO) - Molecular Function for RILP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17010938
GO:0017137 Rab GTPase binding TAS,IPI 11179213
GO:0031267 small GTPase binding IPI 26911690
GO:0046983 protein dimerization activity IEA --
GO:0051959 dynein light intermediate chain binding IPI 25272277
genes like me logo Genes that share ontologies with RILP: view
genes like me logo Genes that share phenotypes with RILP: view

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for RILP

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RILP Gene

Localization for RILP Gene

Subcellular locations from UniProtKB/Swiss-Prot for RILP Gene

Late endosome membrane. Lysosome membrane. Cytoplasmic vesicle, phagosome membrane. Note=Associated with late endosomal, lysosomal and phagosomal membranes. The interaction with RAB7A is necessary for its recruitment to phagosomes. {ECO:0000269 PubMed:12944476}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RILP gene
Compartment Confidence
endosome 5
lysosome 4
cytoskeleton 3
nucleus 2
cytosol 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RILP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005764 lysosome IDA 18272684
GO:0005765 lysosomal membrane TAS --
GO:0005768 endosome IEA --
GO:0005770 late endosome NAS 11179213
genes like me logo Genes that share ontologies with RILP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RILP Gene

Pathways & Interactions for RILP Gene

genes like me logo Genes that share pathways with RILP: view

Pathways by source for RILP Gene

Gene Ontology (GO) - Biological Process for RILP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008333 endosome to lysosome transport IMP 18272684
GO:0010796 regulation of multivesicular body size IDA 17010938
GO:0015031 protein transport NAS 11179213
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
GO:0032509 endosome transport via multivesicular body sorting pathway IDA 17010938
genes like me logo Genes that share ontologies with RILP: view

No data available for SIGNOR curated interactions for RILP Gene

Drugs & Compounds for RILP Gene

No Compound Related Data Available

Transcripts for RILP Gene

mRNA/cDNA for RILP Gene

CRISPR Products

Clone Products

  • Addgene plasmids for RILP

Alternative Splicing Database (ASD) splice patterns (SP) for RILP Gene

No ASD Table

Relevant External Links for RILP Gene

GeneLoc Exon Structure for
RILP
ECgene alternative splicing isoforms for
RILP

Expression for RILP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RILP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RILP Gene

This gene is overexpressed in Heart - Left Ventricle (x4.4) and Whole Blood (x4.0).

Protein differential expression in normal tissues from HIPED for RILP Gene

This gene is overexpressed in Liver (22.3), Heart (15.7), Pancreatic juice (14.1), and Placenta (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RILP Gene



Protein tissue co-expression partners for RILP Gene

NURSA nuclear receptor signaling pathways regulating expression of RILP Gene:

RILP

SOURCE GeneReport for Unigene cluster for RILP Gene:

Hs.534497

mRNA Expression by UniProt/SwissProt for RILP Gene:

Q96NA2-RILP_HUMAN
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.

Evidence on tissue expression from TISSUES for RILP Gene

  • Kidney(4.2)
  • Liver(4.2)
  • Lung(4.2)
  • Muscle(4.2)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with RILP: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RILP Gene

Orthologs for RILP Gene

This gene was present in the common ancestor of animals.

Orthologs for RILP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RILP 32
  • 99.43 (n)
cow
(Bos Taurus)
Mammalia RILP 33 32
  • 84.44 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RILP 33 32
  • 83.42 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rilp 32
  • 78.79 (n)
mouse
(Mus musculus)
Mammalia Rilp 17 33 32
  • 78.51 (n)
oppossum
(Monodelphis domestica)
Mammalia RILP 33
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RILP 33
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves RILP 33
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RILP 33
  • 44 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rilp 33
  • 26 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11448 33
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rilp-1 33
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2252 33
  • 22 (a)
OneToMany
Species where no ortholog for RILP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for RILP Gene

ENSEMBL:
Gene Tree for RILP (if available)
TreeFam:
Gene Tree for RILP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RILP: view image

Paralogs for RILP Gene

Paralogs for RILP Gene

(7) SIMAP similar genes for RILP Gene using alignment to 4 proteins:

  • RILP_HUMAN
  • I3L1U0_HUMAN
  • Q687H3_HUMAN
  • Q687H4_HUMAN
genes like me logo Genes that share paralogs with RILP: view

Variants for RILP Gene

Sequence variations from dbSNP and Humsavar for RILP Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs121434236 pathogenic, Retinitis pigmentosa 13 1,650,884(-) T/C/G upstream_transcript_variant
rs121434238 pathogenic, Retinitis pigmentosa 13 1,650,881(-) C/T upstream_transcript_variant
rs121434239 pathogenic, Retinitis pigmentosa 13 1,650,909(-) G/T upstream_transcript_variant
rs121434240 pathogenic, Retinitis pigmentosa 13 1,650,898(-) G/A/C upstream_transcript_variant
rs147050234 uncertain-significance, Retinitis Pigmentosa, Dominant 1,651,127(-) C/G/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RILP Gene

Variant ID Type Subtype PubMed ID
esv29703 CNV loss 19812545
nsv1059565 CNV gain 25217958
nsv574211 CNV gain 21841781

Variation tolerance for RILP Gene

Gene Damage Index Score: 6.73; 78.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RILP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RILP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RILP Gene

Disorders for RILP Gene

MalaCards: The human disease database

(1) MalaCards diseases for RILP Gene - From: GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search RILP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RILP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RILP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RILP Gene

Publications for RILP Gene

  1. Rab-interacting lysosomal protein (RILP): the Rab7 effector required for transport to lysosomes. (PMID: 11179213) Cantalupo G … Bucci C (The EMBO journal 2001) 2 3 4 23 56
  2. A unique region of RILP distinguishes it from its related proteins in its regulation of lysosomal morphology and interaction with Rab7 and Rab34. (PMID: 14668488) Wang T … Hong W (Molecular biology of the cell 2004) 3 4 23 56
  3. Interorganellar regulation of lysosome positioning by the Golgi apparatus through Rab34 interaction with Rab-interacting lysosomal protein. (PMID: 12475955) Wang T … Hong W (Molecular biology of the cell 2002) 3 4 23 56
  4. Expression analysis and chromosomal assignment of PRA1 and RILP genes. (PMID: 11520070) Bucci C … Bruni CB (Biochemical and biophysical research communications 2001) 3 4 23 56
  5. The Rab7 effector protein RILP controls lysosomal transport by inducing the recruitment of dynein-dynactin motors. (PMID: 11696325) Jordens I … Neefjes J (Current biology : CB 2001) 3 4 23 56

Products for RILP Gene

Sources for RILP Gene