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Aliases for RILP Gene

Aliases for RILP Gene

  • Rab Interacting Lysosomal Protein 2 3 5
  • Rab-Interacting Lysosomal Protein 3
  • 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. Among its related pathways are Innate Immune System and Salmonella infection (KEGG). GO annotations related to this gene include Rab GTPase binding. An important paralog of this gene is RILPL1.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RILP Gene

Genomics for RILP Gene

Regulatory Elements for RILP Gene

Enhancers for RILP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G001648 1.4 ENCODE dbSUPER 15 +0.5 468 3.8 HDGF FOXA2 PKNOX1 CREB3L1 AGO1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 SMYD4 RPA1 METTL16 RILP TLCD2 MIR22 MIR22HG WDR81 PITPNA SMG6
GH17G001573 1.5 Ensembl ENCODE dbSUPER 12.1 +73.6 73618 5.2 ATF1 ARID4B SIN3A ZNF2 ZNF48 ZBTB7B YY1 ETS1 GLIS2 ZNF143 SLC43A2 SCARF1 RILP YWHAE PIR53488 RN7SL105P
GH17G001581 1.2 ENCODE dbSUPER 12.1 +68.3 68283 2.0 AGO1 ARID4B SIN3A GLIS2 ELK1 ZNF143 ZNF207 KLF7 SP3 ZNF592 SLC43A2 SCARF1 RILP YWHAE PIR53488 RN7SL105P
GH17G001666 1 ENCODE 11.4 -19.1 -19091 4.8 ATF1 PKNOX1 ZFP64 ARID4B SIN3A ZNF48 ZNF2 YY1 ZNF121 GLIS2 RILP DPH1 GC17P001658 ENSG00000277597
GH17G001642 1.2 ENCODE dbSUPER 5.2 +5.4 5429 3.8 HDGF SIN3A TCF12 ZNF121 GLIS2 ZNF143 ZNF207 FOS SP3 JUNB RILP SCARF1 SLC43A2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RILP on UCSC Golden Path with GeneCards custom track

Promoters for RILP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000090122 798 1401 PKNOX1 FOXA2 CREB3L1 AGO1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 YY1

Genomic Location for RILP Gene

Chromosome:
17
Start:
1,646,145 bp from pter
End:
1,650,098 bp from pter
Size:
3,954 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). 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

Protein Domains for RILP Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families 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.

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 IPI,TAS 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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for RILP

Flow Cytometry Products

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
lysosome 5
endosome 5
cytoskeleton 4
mitochondrion 2
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for RILP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
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

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:0006810 transport IEA --
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 --
genes like me logo Genes that share ontologies with RILP: view

No data available for SIGNOR curated interactions for RILP Gene

Transcripts for RILP Gene

Unigene Clusters for RILP Gene

Rab interacting lysosomal protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for RILP

Flow Cytometry Products

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, PaxDb, 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

Primer Products

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 34
  • 99.43 (n)
cow
(Bos Taurus)
Mammalia RILP 34 35
  • 84.44 (n)
dog
(Canis familiaris)
Mammalia RILP 34 35
  • 83.42 (n)
rat
(Rattus norvegicus)
Mammalia Rilp 34
  • 78.79 (n)
mouse
(Mus musculus)
Mammalia Rilp 34 16 35
  • 78.51 (n)
oppossum
(Monodelphis domestica)
Mammalia RILP 35
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RILP 35
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves RILP 35
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RILP 35
  • 44 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rilp 35
  • 26 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11448 35
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rilp-1 35
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2252 35
  • 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)

Paralogs for RILP Gene

Paralogs for RILP Gene

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

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 Sequence Context AA Info Type
rs121434236 Pathogenic 1,650,884(-) GGTGC(A/C/G)CAGGC upstream-variant-2KB, reference, missense
rs121434238 Pathogenic 1,650,881(-) GCACA(A/G)GCCCT upstream-variant-2KB, reference, missense
rs121434239 Pathogenic 1,650,909(-) CGAAC(A/C)CCAAA upstream-variant-2KB, reference, missense
rs121434240 Pathogenic 1,650,898(-) GAGTT(C/G/T)TACCA upstream-variant-2KB, reference, synonymous-codon
rs1802491 Likely benign 1,651,476(-) ACCCA(C/T)GCCAA upstream-variant-2KB, reference, synonymous-codon

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)

Relevant External Links for RILP Gene

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

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

Disorders for RILP Gene

Relevant External Links for RILP

Genetic Association Database (GAD)
RILP
Human Genome Epidemiology (HuGE) Navigator
RILP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RILP

No disorders were found for RILP Gene.

No data available for MalaCards , 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. (EMBO J. 2001) 2 3 4 22 64
  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. (Mol. Biol. Cell 2004) 3 4 22 64
  3. Interorganellar regulation of lysosome positioning by the Golgi apparatus through Rab34 interaction with Rab-interacting lysosomal protein. (PMID: 12475955) Wang T. … Hong W. (Mol. Biol. Cell 2002) 3 4 22 64
  4. Expression analysis and chromosomal assignment of PRA1 and RILP genes. (PMID: 11520070) Bucci C. … Bruni C.B. (Biochem. Biophys. Res. Commun. 2001) 3 4 22 64
  5. The Rab7 effector protein RILP controls lysosomal transport by inducing the recruitment of dynein-dynactin motors. (PMID: 11696325) Jordens I. … Neefjes J. (Curr. Biol. 2001) 3 4 22 64

Products for RILP Gene

Sources for RILP Gene

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