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Aliases for RILP Gene

Aliases for RILP Gene

  • Rab Interacting Lysosomal Protein 2 3
  • 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. Diseases associated with RILP include epilepsy, progressive myoclonic 1b. Among its related pathways are Class I MHC mediated antigen processing and presentation and Salmonella infection (KEGG). GO annotations related to this gene include Rab GTPase binding. An important paralog of this gene is RILPL2.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RILP Gene

Genomics for RILP Gene

Regulatory Elements for RILP Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RILP Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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. Each subunit can interact with either RAB7A or RAB34. Interacts with CLN3.

    Three dimensional structures from OCA and Proteopedia for RILP Gene

    Alternative splice isoforms for RILP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RILP Gene

Proteomics data for RILP Gene at MOPED

Post-translational modifications for RILP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RILP Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for RILP Gene

Domains for RILP Gene

Protein Domains for RILP Gene

Graphical View of Domain Structure for InterPro Entry

Q96NA2

UniProtKB/Swiss-Prot:

RILP_HUMAN :
  • Q96NA2
Domain:
  • Contains 1 RILP-like domain.
genes like me logo Genes that share domains with RILP: view

No data available for Gene Families 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 TAS 11179213
genes like me logo Genes that share ontologies with RILP: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for RILP Gene

Localization for RILP Gene

Subcellular locations from UniProtKB/Swiss-Prot for RILP Gene

Endomembrane system. 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RILP Gene COMPARTMENTS Subcellular localization image for RILP gene
Compartment Confidence
endosome 5
lysosome 5
vacuole 5
mitochondrion 2
nucleus 2
cytoskeleton 1

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:0005770 late endosome NAS 11179213
GO:0030670 phagocytic vesicle membrane IEA --
genes like me logo Genes that share ontologies with RILP: view

Pathways for RILP Gene

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

Pathways by source for RILP Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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

Transcripts for RILP Gene

Unigene Clusters for RILP Gene

Rab interacting lysosomal protein:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RILP

Primer Products

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 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 (4.4) and Whole Blood (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for RILP Gene

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.
genes like me logo Genes that share expressions with RILP: view

In Situ Assay Products

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 35
  • 99.43 (n)
  • 99.43 (a)
cow
(Bos Taurus)
Mammalia RILP 35
  • 84.44 (n)
  • 79.2 (a)
RILP 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RILP 35
  • 83.42 (n)
  • 79.62 (a)
RILP 36
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rilp 35
  • 78.51 (n)
  • 76.58 (a)
Rilp 16
Rilp 36
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RILP 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RILP 36
  • 49 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rilp 35
  • 78.79 (n)
  • 75.85 (a)
chicken
(Gallus gallus)
Aves RILP 36
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RILP 36
  • 44 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rilp 36
  • 26 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11448 36
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rilp-1 36
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2252 36
  • 22 (a)
OneToMany
Species with no ortholog for RILP:
  • 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

Selected 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 MAF
rs2272009 -- 1,648,761(-) AGGAC(G/T)CAGCG intron-variant
rs9896488 -- 1,649,709(+) GCCCC(G/T)GCTAG synonymous-codon, reference
rs9909321 - 1,649,493(+) CTGCG(C/T)CGACA missense, reference
rs9915159 -- 1,649,542(+) TGCCG(A/G)CCCCG intron-variant
rs34982553 - 1,647,937(-) CCACC(A/G)GGTCC missense, reference

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

Variant ID Type Subtype PubMed ID
nsv907502 CNV Loss 21882294
nsv907511 CNV Loss 21882294
dgv3031n71 CNV Loss 21882294
nsv907513 CNV Loss 21882294
nsv907515 CNV Loss 21882294
dgv3032n71 CNV Loss 21882294
nsv907517 CNV Loss 21882294
esv29703 CNV Loss 19812545

Relevant External Links for RILP Gene

HapMap Linkage Disequilibrium report
RILP

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

Disorders for RILP Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for RILP Gene including...

Search for RILP Gene in MalaCards »

Relevant External Links for RILP

Genetic Association Database (GAD)
RILP
Human Genome Epidemiology (HuGE) Navigator
RILP
genes like me logo Genes that share disorders with RILP: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. Expression analysis and chromosomal assignment of PRA1 and RILP genes. (PMID: 11520070) Bucci C. … Bruni C.B. (Biochem. Biophys. Res. Commun. 2001) 3 4 23
  3. 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 23
  4. 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 23
  5. 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 23

Products for RILP Gene

Sources for RILP Gene

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