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RILPL1 Gene

protein-coding   GIFtS: 46
GCID: GC12M123955

Rab Interacting Lysosomal Protein-Like 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Rab Interacting Lysosomal Protein-Like 11 2
RLP12 3 5
Rab-Interacting Lysosomal-Like Protein 12 3
GOSPEL2 5
RILP-Like Protein 12

External Ids:    HGNC: 268141   Entrez Gene: 3531162   Ensembl: ENSG000001880267   OMIM: 6140925   UniProtKB: Q5EBL43   

Export aliases for RILPL1 gene to outside databases

Previous GC identifers: GC12M122522 GC12M120917


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RILPL1 Gene:
RILPL1 (Rab interacting lysosomal protein-like 1) is a protein-coding gene. An important paralog of this gene is RILPL2.

UniProtKB/Swiss-Prot: RIPL1_HUMAN, Q5EBL4
Function: Plays a role in the regulation of cell shape and polarity. Plays a role in cellular protein transport,
including protein transport away from primary cilia. Neuroprotective protein, which acts by sequestring GAPDH in
the cytosol and prevent the apoptotic function of GAPDH in the nucleus. Competes with SIAH1 for binding GAPDH (By
similarity). Does not regulate lysosomal morphology and distribution




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RILPL1 gene promoter:
         Max1   AML1a   HTF   GCNF   AP-4   Evi-1   GCNF-1   GCNF-2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRILPL1 promoter sequence
   Search Chromatin IP Primers for RILPL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RILPL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.31   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24.31

RILPL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RILPL1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M123955:  view genomic region     (about GC identifiers)

Start:
123,955,909 bp from pter      End:
124,018,265 bp from pter
Size:
62,357 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RIPL1_HUMAN, Q5EBL4 (See protein sequence)
Recommended Name: RILP-like protein 1  
Size: 403 amino acids; 47108 Da
Subunit: Interacts (when S-nitrosylated) with GAPDH (By similarity)
Secondary accessions: Q66K36 Q8N1M0
Alternative splicing: 3 isoforms:  Q5EBL4-1   Q5EBL4-2   Q5EBL4-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RILPL1: NX_Q5EBL4

Explore proteomics data for RILPL1 at MOPED

Post-translational modifications: 

  • S-nitrosylation is required for the interaction with GAPDH (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RILPL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_847884.2  
    ENSEMBL proteins: 
     ENSP00000366070   ENSP00000345874   ENSP00000442991  

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    antibodies-online proteins for RILPL1 (6 products) 

     
    antibodies-online peptides for RILPL1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR019143 JNK/Rab-associated_protein-1_N
     IPR021563 RILP

    Graphical View of Domain Structure for InterPro Entry Q5EBL4

    ProtoNet protein and cluster: Q5EBL4

    UniProtKB/Swiss-Prot: RIPL1_HUMAN, Q5EBL4
    Similarity: Belongs to the RILPL family
    Similarity: Contains 1 RILP-like domain


    Find genes that share domains with RILPL1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RIPL1_HUMAN, Q5EBL4
    Function: Plays a role in the regulation of cell shape and polarity. Plays a role in cellular protein transport,
    including protein transport away from primary cilia. Neuroprotective protein, which acts by sequestring GAPDH in
    the cytosol and prevent the apoptotic function of GAPDH in the nucleus. Competes with SIAH1 for binding GAPDH (By
    similarity). Does not regulate lysosomal morphology and distribution

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with RILPL1           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Rilpl1 (no phenotypes)

    Find genes that share phenotypes with RILPL1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for RILPL1

    miRNA
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    hsa-miR-217 hsa-miR-100* hsa-miR-3152-3p hsa-miR-4328 hsa-miR-509-5p hsa-miR-1278 hsa-miR-3171 hsa-miR-3922-3p
    SwitchGear 3'UTR luciferase reporter plasmidRILPL1 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RIPL1_HUMAN, Q5EBL4: Cytoplasm, cytosol. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome (By
    similarity). Cell projection, cilium (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus4
    plasma membrane4

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome ISS--
    GO:0005829cytosol ISS--

    Find genes that share ontologies with RILPL1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RILPL1
    Interactions:

        Search GeneGlobe Interaction Network for RILPL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for RILPL1 (Q5EBL43 ENSP000003660704) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APCP250543I2D: score=1 
    PHKBENSP000003135044STRING: ENSP00000313504
    PHKA1ENSP000003626434STRING: ENSP00000362643
    PHKA2ENSP000003692744STRING: ENSP00000369274
    PHKG1ENSP000002973734STRING: ENSP00000297373
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003382epithelial cell morphogenesis ISS--
    GO:0006886intracellular protein transport ISS--
    GO:1901214regulation of neuron death ISS--

    Find genes that share ontologies with RILPL1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RILPL1 (RIPL1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RILPL1 gene: 
    NM_178314.3  

    Unigene Cluster for RILPL1:

    Rab interacting lysosomal protein-like 1
    Hs.530315  [show with all ESTs]
    Unigene Representative Sequence: BC041375
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376874(uc001ufd.2 uc001ufe.2 uc010tas.1) ENST00000340724
    ENST00000544468
    miRNA
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    hsa-miR-217 hsa-miR-100* hsa-miR-3152-3p hsa-miR-4328 hsa-miR-509-5p hsa-miR-1278 hsa-miR-3171 hsa-miR-3922-3p
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      QuantiTect SYBR Green Assays in human, mouse, rat RILPL1
      QuantiFast Probe-based Assays in human, mouse, rat RILPL1

    Additional mRNA sequence: 

    AK096697.1 AK097550.1 BC041375.1 BC080626.1 BC089444.1 

    12 DOTS entries:

    DT.92421480  DT.100776417  DT.97796895  DT.87046251  DT.214214  DT.102828354  DT.121175260  DT.405892 
    DT.91896440  DT.100744930  DT.100776415  DT.97793965 

    Selected AceView cDNA sequences (see all 105):

    BC020829 BU682752 CA307572 BC028485 CA441706 BM797196 AI453241 AA301542 
    NM_180699 NM_180703 AA487864 BM998075 BU856880 BC054034 BM714052 AA211268 
    BM694072 BM717649 BM704623 AI734180 BF437352 BM508077 CB051489 AA766916 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RILPL1 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b
    SP1:                    -     -     -                             -                           
    SP2:                    -     -     -                             -           -               
    SP3:                          -     -                             -                           
    SP4:                                -                                                         
    SP5:                                                                                          


    ECgene alternative splicing isoforms for RILPL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RILPL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGCAATGTT
    RILPL1 Expression
    About this image


    RILPL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Eye (Sensory Organs)
             Lens
    RILPL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RILPL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.530315

    UniProtKB/Swiss-Prot: RIPL1_HUMAN, Q5EBL4
    Tissue specificity: Widely expressed. Expressed at lower level in liver and kidney

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for RILPL1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rilpl11 , 5 Rab interacting lysosomal protein-like 11, 5 87.84(n)1
    93.55(a)1
      5 (63.62 cM)5
    756951  NM_021430.21  NP_067405.11 
     1244930825 
    chicken
    (Gallus gallus)
    Aves RILPL11 Rab interacting lysosomal protein-like 1 76.57(n)
    84.38(a)
      416822  XM_415113.4  XP_415113.2 
    lizard
    (Anolis carolinensis)
    Reptilia RILPL16
    Rab interacting lysosomal protein-like 1
    78(a)
    1 ↔ 1
    LGb(1782913-1795965)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.27382 Xenopus laevis transcribed sequence with weak similarity more 73.78(n)    CA789644.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rilpl11 Rab interacting lysosomal protein-like 1 71.17(n)
    68.83(a)
      780843  NM_001079664.1  NP_001073132.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG114481 CG11448 55.63(n)
    38.43(a)
      31090  NM_001272204.1  NP_001259133.1 
    worm
    (Caenorhabditis elegans)
    Secernentea rilp-11 rilp-1 44.08(n)
    35.53(a)
      175465  NM_171100.6  NP_741113.3 


    ENSEMBL Gene Tree for RILPL1 (if available)
    TreeFam Gene Tree for RILPL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RILPL1 gene
    RILPL22  RILP2  

    Find genes that share paralogs with RILPL1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RILPL1 (see all 1341)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1893173051,2
    --123955454(+) CTTCTA/CTACTC 1 -- ds50010--------
    rs1509126391,2
    C--123955485(+) ATTCTA/GATGGG 1 -- ds50010--------
    rs1394554631,2
    --123955524(+) CGCAGC/GAATAA 1 -- ds50010--------
    rs1496783501,2
    C--123955557(+) TTTTTC/TGGCAA 1 -- ds50010--------
    rs1820131121,2
    C--123955637(+) TTTTTA/GGATGA 1 -- ds50010--------
    rs1477851941,2
    C--123955654(+) ACTCTA/GTCGCC 1 -- ds50010--------
    rs1395676421,2
    --123955657(+) CTGTCA/GCCCAG 1 -- ds50010--------
    rs1858639831,2
    --123955818(+) TTCACC/TGTGTT 1 -- ds50010--------
    rs115077441,2
    C,F--123955845(+) AACTCT/CGGACC 1 -- ds50017Minor allele frequency- C:0.25NA 16
    rs1476199731,2
    --123956244(+) CGCCCC/TGCTTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for RILPL1 (123955909 - 124018265 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for RILPL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2746509CNV Deletion23290073
    esv2746507CNV Deletion23290073
    esv1489716CNV Deletion17803354
    esv2422416CNV Duplication17116639
    esv24540CNV Gain19812545

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614092    OMIM disorders: --


    Find genes that share disorders with RILPL1           About GenesLikeMe

    Genetic Association Database (GAD): RILPL1

    Export disorders for RILPL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RILPL1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with RILPL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A unique region of RILP distinguishes it from its related proteins in its regulation of lysosomal morphology and interaction with Rab7 and Rab34. (PubMed id 14668488)1, 2, 3 Wang T.... Hong W. (Mol. Biol. Cell 2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    4. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    5. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    6. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    7. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (Nature 2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 353116 HGNC: 26814 AceView: U1SNRNPBP Ensembl:ENSG00000188026 euGenes: HUgn353116
    ECgene: RILPL1 H-InvDB: RILPL1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RILPL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RILPL1 gene:
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    GeneCards and IP:
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