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

Summary

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. Involved in cellular protein catabolic process; endosome to lysosome transport; and positive regulation of macroautophagy. Acts upstream of or within cellular response to interferon-gamma. Located in cytoplasmic vesicle and vacuole. Orthologous to human RAB12 (RAB12, member RAS oncogene family). [provided by Alliance of Genome Resources, Apr 2022]
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

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_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.

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Variation

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Alleles

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

Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW555448 (e-PCR)
- UniSTS:181056

C77700 (e-PCR)
- UniSTS:160688

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GDP binding	ISO Inferred from Sequence Orthology 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 nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Rab protein signal transduction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within 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 secretion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in autophagosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
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)

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

NC_000083.7 Reference GRCm39 C57BL/6J

Range

66801507..66826712 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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