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

Gene ID: 19328, updated on 28-Oct-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, Oct 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 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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