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

    Gene ID: 83547, updated on 5-Nov-2017
    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; Vega:OTTHUMG00000090554
    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
    Location:
    17p13.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (1646150..1650098, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1549444..1553392, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 43 member 2 Neighboring gene RNA, 7SL, cytoplasmic 105, pseudogene Neighboring gene scavenger receptor class F member 1 Neighboring gene pre-mRNA processing factor 8 Neighboring gene TLC domain containing 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • MHC class II antigen presentation, organism-specific biosystem (from REACTOME)
      MHC class II antigen presentation, organism-specific biosystemAntigen presenting cells (APCs) such as B cells, dendritic cells (DCs) and monocytes/macrophages express major histocompatibility complex class II molecules (MHC II) at their surface and present exog...
    • Phagosome, organism-specific biosystem (from KEGG)
      Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Phagosome, conserved biosystem (from KEGG)
      Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Salmonella infection, organism-specific biosystem (from KEGG)
      Salmonella infection, organism-specific biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
    • Salmonella infection, conserved biosystem (from KEGG)
      Salmonella infection, conserved biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ31193

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Rab GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Rab GTPase binding TAS
    Traceable Author Statement
    more info
    PubMed 
    dynein light intermediate chain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    late endosome NAS
    Non-traceable Author Statement
    more info
    PubMed 
    late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lysosomal membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    phagocytic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    protein complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    rab-interacting lysosomal protein

    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
      5001..8949
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_031430.2NP_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
      Related
      ENSP00000301336.6, OTTHUMP00000115658, ENST00000301336.6, OTTHUMT00000207080
      Conserved Domains (2) summary
      pfam11461
      Location:245302
      RILP; Rab interacting lysosomal protein
      cl23720
      Location:2879
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      1646150..1650098 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025195.1XP_016880684.1  rab-interacting lysosomal protein isoform X2

    2. XM_005256811.1XP_005256868.1  rab-interacting lysosomal protein isoform X1

      See identical proteins and their annotated locations for XP_005256868.1

      Conserved Domains (2) summary
      pfam11461
      Location:245302
      RILP; Rab interacting lysosomal protein
      cl23720
      Location:2879
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    RNA

    1. XR_001752657.1 RNA Sequence

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187611.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      76178..80126 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      1558214..1562162 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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