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    Rab12 RAB12, member RAS oncogene family [ Mus musculus (house mouse) ]

    Gene ID: 19328, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Rab12provided by MGI
    Official Full Name
    RAB12, member RAS oncogene familyprovided by MGI
    Primary source
    MGI:MGI:894284
    See related
    Ensembl:ENSMUSG00000023460 AllianceGenome:MGI:894284
    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
    2900054P15Rik
    Summary
    Predicted to enable GDP binding activity and GTPase activity. Involved in endosome to lysosome transport; positive regulation of macroautophagy; and protein catabolic process. Acts upstream of or within cellular response to type II interferon. Located in cytoplasmic vesicle and vacuole. Orthologous to human RAB12 (RAB12, member RAS oncogene family). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 10.7), bladder adult (RPKM 8.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Rab12 in Genome Data Viewer
    Location:
    17 E1.1; 17 37.88 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (66801507..66826712, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (66494512..66519750, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_43047 Neighboring gene periphilin 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_43048 Neighboring gene STARR-seq mESC enhancer starr_43049 Neighboring gene STARR-seq mESC enhancer starr_43051 Neighboring gene STARR-seq mESC enhancer starr_43052 Neighboring gene microtubule crosslinking factor 1 Neighboring gene STARR-seq mESC enhancer starr_43061 Neighboring gene STARR-seq mESC enhancer starr_43062 Neighboring gene predicted gene 4705 Neighboring gene STARR-seq mESC enhancer starr_43065 Neighboring gene STARR-seq mESC enhancer starr_43067 Neighboring gene STARR-seq mESC enhancer starr_43070 Neighboring gene VISTA enhancer mm1499 Neighboring gene STARR-seq mESC enhancer starr_43072 Neighboring gene predicted gene, 41608 Neighboring gene STARR-seq mESC enhancer starr_43077 Neighboring gene STARR-seq mESC enhancer starr_43079 Neighboring gene thymocyte selection associated family member 3 Neighboring gene STARR-seq mESC enhancer starr_43080 Neighboring gene predicted gene, 46576

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Targeting Specific Kinase Substrates Rescues Increased Colitis Severity Induced by the Crohn's Disease-Linked LRRK2-N2081D Variant. Heaton GR, et al. bioRxiv, 2024 Sep 5. PMID 39282291, Free PMC Article
    2. Genome-wide screen reveals Rab12 GTPase as a critical activator of Parkinson's disease-linked LRRK2 kinase. Dhekne HS, et al. Elife, 2023 Oct 24. PMID 37874635, Free PMC Article
    3. Rab12 Regulates Retrograde Transport of Mast Cell Secretory Granules by Interacting with the RILP-Dynein Complex. Efergan A, et al. J Immunol, 2016 Feb 1. PMID 26740112
    4. Dennd3 functions as a guanine nucleotide exchange factor for small GTPase Rab12 in mouse embryonic fibroblasts. Matsui T, et al. J Biol Chem, 2014 May 16. PMID 24719330, Free PMC Article
    5. Rab12 regulates mTORC1 activity and autophagy through controlling the degradation of amino-acid transporter PAT4. Matsui T, et al. EMBO Rep, 2013 May. PMID 23478338, Free PMC Article

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genome-wide screen reveals Rab12 GTPase as a critical activator of Parkinson's disease-linked LRRK2 kinase.
      Title: Genome-wide screen reveals Rab12 GTPase as a critical activator of Parkinson's disease-linked LRRK2 kinase.
    2. we identified the small GTPase Rab12 as a novel regulator of mast cell secretory granule transport
      Title: Rab12 Regulates Retrograde Transport of Mast Cell Secretory Granules by Interacting with the RILP-Dynein Complex.
    3. Dennd3 not only functions as a Rab12-GEF but also modulates Akt signaling in mouse embryonic fibroblast cells
      Title: Dennd3 functions as a guanine nucleotide exchange factor for small GTPase Rab12 in mouse embryonic fibroblasts.
    4. A new mechanism of regulation of mTORC1 signalling and autophagy, that is, quality control of PAT4 by Rab12.
      Title: Rab12 regulates mTORC1 activity and autophagy through controlling the degradation of amino-acid transporter PAT4.
    5. Knockdown of Rab12 increased transferrin receptor level and reduced M98K-induced cell death.
      Title: M98K-OPTN induces transferrin receptor degradation and RAB12-mediated autophagic death in retinal ganglion cells.
    6. TfR is constitutively degraded by a Rab12-dependent pathway (presumably from recycling endosomes to lysosomes), which is independent of the conventional degradation pathway.
      Title: Small GTPase Rab12 regulates constitutive degradation of transferrin receptor.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GDP binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables GDP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in Rab protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cellular response to type II interferon IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in endocytic recycling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endosome to lysosome transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of macroautophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in autophagosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in phagocytic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in recycling endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in secretory granule ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in synaptic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in trans-Golgi network transport vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ras-related protein Rab-12
    Names
    rab-13

    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_024448.3 → NP_077768.3  ras-related protein Rab-12

      Status: VALIDATED

      Source sequence(s)
      CT010496
      Consensus CDS
      CCDS50169.1
      UniProtKB/TrEMBL
      A2CG35
      Related
      ENSMUSP00000070134.5, ENSMUST00000070538.12
      Conserved Domains (1) summary
      cd04120
      Location:90 → 291
      Rab12; Rab GTPase family 12 (Rab12)

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      66801507..66826712 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006523889.1 → XP_006523952.1  ras-related protein Rab-12 isoform X1

      Conserved Domains (1) summary
      cl38936
      Location:31 → 178
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P35283.3 GenPept UniProtKB/Swiss-Prot:P35283

    Gene LinkOut

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

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