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    Rilpl1 Rab interacting lysosomal protein-like 1 [ Mus musculus (house mouse) ]

    Gene ID: 75695, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Rilpl1provided by MGI
    Official Full Name
    Rab interacting lysosomal protein-like 1provided by MGI
    Primary source
    MGI:MGI:1922945
    See related
    Ensembl:ENSMUSG00000029392 AllianceGenome:MGI:1922945
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    GOSPEL; 2900002H16Rik; 6330559I19Rik
    Summary
    Predicted to enable dynein light intermediate chain binding activity and small GTPase binding activity. Involved in epithelial cell morphogenesis and protein transport from ciliary membrane to plasma membrane. Located in centrosome and cilium. Is expressed in several structures, including brain; genitourinary system; gut; lens; and vertebral axis musculature. Human ortholog(s) of this gene implicated in oculopharyngodistal myopathy 4. Orthologous to human RILPL1 (Rab interacting lysosomal protein like 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in heart adult (RPKM 23.7), cortex adult (RPKM 9.6) and 20 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Rilpl1 in Genome Data Viewer
    Location:
    5 63.62 cM; 5 F
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (124631143..124669684, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (124493080..124531441, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene Rab interacting lysosomal protein-like 2 Neighboring gene STARR-positive B cell enhancer ABC_E8082 Neighboring gene STARR-positive B cell enhancer ABC_E11302 Neighboring gene STARR-positive B cell enhancer ABC_E2178 Neighboring gene peptidylprolyl isomerase A pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E6382 Neighboring gene STARR-positive B cell enhancer ABC_E10352 Neighboring gene small nuclear ribonucleoprotein 35 (U11/U12) Neighboring gene predicted gene, 52789 Neighboring gene ribosomal protein L32 5C pseudogene Neighboring gene transmembrane p24 trafficking protein 2 Neighboring gene STARR-positive B cell enhancer ABC_E3619 Neighboring gene STARR-positive B cell enhancer ABC_E3620 Neighboring gene DEAD box helicase 55

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The Rilp-like proteins Rilpl1 and Rilpl2 regulate ciliary membrane content. Schaub JR, et al. Mol Biol Cell, 2013 Feb. PMID 23264467, Free PMC Article
    2. GOSPEL: a neuroprotective protein that binds to GAPDH upon S-nitrosylation. Sen N, et al. Neuron, 2009 Jul 16. PMID 19607794, Free PMC Article
    3. Melanoregulin regulates retrograde melanosome transport through interaction with the RILP-p150Glued complex in melanocytes. Ohbayashi N, et al. J Cell Sci, 2012 Mar 15. PMID 22275436
    4. The trafficking protein Tmed2/p24beta(1) is required for morphogenesis of the mouse embryo and placenta. Jerome-Majewska LA, et al. Dev Biol, 2010 May 1. PMID 20178780, Free PMC Article
    5. A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart. Kalsotra A, et al. Proc Natl Acad Sci U S A, 2008 Dec 23. PMID 19075228, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ39378

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables dynein light intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in epithelial cell morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nitric oxide mediated signal transduction ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein transport from ciliary membrane to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centriole IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    RILP-like protein 1
    Names
    rab-interacting lysosomal-like protein 1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001417895.1 → NP_001404824.1  RILP-like protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC127313

    2. NM_001417896.1 → NP_001404825.1  RILP-like protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC127313

    3. NM_021430.3 → NP_067405.1  RILP-like protein 1 isoform 2

      See identical proteins and their annotated locations for NP_067405.1

      Status: VALIDATED

      Source sequence(s)
      AC127313
      Consensus CDS
      CCDS19678.1
      UniProtKB/Swiss-Prot
      Q80WV8, Q9JJC6
      Related
      ENSMUSP00000050014.8, ENSMUST00000062153.12
      Conserved Domains (3) summary
      TIGR02169
      Location:76 → 322
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam09744
      Location:28 → 174
      Jnk-SapK_ap_N; JNK_SAPK-associated protein-1
      pfam11461
      Location:299 → 351
      RILP; Rab interacting lysosomal protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      124631143..124669684 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011248246.4 → XP_011246548.1  RILP-like protein 1 isoform X3

      Conserved Domains (3) summary
      TIGR02169
      Location:76 → 322
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam09744
      Location:28 → 174
      Jnk-SapK_ap_N; JNK_SAPK-associated protein-1
      pfam11461
      Location:299 → 351
      RILP; Rab interacting lysosomal protein

    2. XM_006530491.5 → XP_006530554.1  RILP-like protein 1 isoform X4

      Conserved Domains (3) summary
      TIGR02169
      Location:76 → 322
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam09744
      Location:28 → 174
      Jnk-SapK_ap_N; JNK_SAPK-associated protein-1
      pfam11461
      Location:299 → 351
      RILP; Rab interacting lysosomal protein

    3. XM_011248245.4 → XP_011246547.1  RILP-like protein 1 isoform X2

      Conserved Domains (3) summary
      TIGR02169
      Location:76 → 322
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam09744
      Location:28 → 174
      Jnk-SapK_ap_N; JNK_SAPK-associated protein-1
      pfam11461
      Location:299 → 351
      RILP; Rab interacting lysosomal protein

    4. XM_036165584.1 → XP_036021477.1  RILP-like protein 1 isoform X6

      Conserved Domains (3) summary
      TIGR02169
      Location:76 → 322
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam09744
      Location:27 → 174
      Jnk-SapK_ap_N; JNK_SAPK-associated protein-1
      pfam11461
      Location:299 → 351
      RILP; Rab interacting lysosomal protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JJC6.1 GenPept UniProtKB/Swiss-Prot:Q9JJC6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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