Rab18 RAB18, member RAS oncogene family [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rab18provided by MGI
Official Full Name: RAB18, member RAS oncogene familyprovided by MGI
Primary source: MGI:MGI:102790
See related: Ensembl:ENSMUSG00000073639 AllianceGenome:MGI:102790
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: This gene encodes a member of the Ras-related small GTPases, which regulate membrane trafficking in organelles and transport vesicles. This protein is expressed predominantly in lipid droplets, organelles that store neutral lipids, and is proposed to play a role in lipolysis and lipogenesis. In humans mutations in this gene are associated with Warburg micro syndrome type 3. A pseudogene of this gene is located on chromosome X. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]
Expression: Ubiquitous expression in bladder adult (RPKM 20.0), CNS E18 (RPKM 19.1) and 25 other tissues See more
Orthologs: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 18 A1; 18 4.53 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (6765167..6791606)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (6765167..6791606)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Rab18 binds PLIN2 and ACSL3 to mediate lipid droplet dynamics.
Title: Rab18 binds PLIN2 and ACSL3 to mediate lipid droplet dynamics.
the functions of RAB18 and RAB7 in lysosomal and autophagic activities may constitute an overlapping mechanism underlying Warburg micro syndrome and Charcot-Marie-Tooth Neuropathy Type 2B pathogenesis in the nervous system.
Title: Rab18 Collaborates with Rab7 to Modulate Lysosomal and Autophagy Activities in the Nervous System: an Overlapping Mechanism for Warburg Micro Syndrome and Charcot-Marie-Tooth Neuropathy Type 2B.
data reveal that the Rab18-NRZ-SNARE complex is critical protein machinery for tethering endoplasmic reticulum-lipid droplet and establishing endoplasmic reticulum-lipid droplet contact to promote lipid droplet growth.
Title: Rab18 promotes lipid droplet (LD) growth by tethering the ER to LDs through SNARE and NRZ interactions.
RAB18 regulates neuronal migration and morphogenesis during development.
Title: RAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortex.
Retinoid and cholesterol metabolism are linked in stellate cells by the LD-associated protein Rab18 and may have significant therapeutic benefit in liver fibrosis.
Title: Liver X receptors balance lipid stores in hepatic stellate cells through Rab18, a retinoid responsive lipid droplet protein.
The results of this study indicated that the sensory nervous system is more vulnerable to Rab18 deficiency and WARBM is not only a neurodevelopmental but also neurodegenerative disease.
Title: ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18.
apparent similarities between the WARBM phenotype and the phenotype that we describe here indicate that the Rab18-mutant mouse provides an important platform for investigation of the disease pathogenesis and therapeutic interventions
Title: A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton.
Data suggest that overexpression of Rab18 in its GDP-bound state favors peroxisome proliferation in hepatocytes; Rab18 (as well as Rab6, Rab10, and Rab14) localizes to the peroxisomal compartment.
Title: Localization of Rab proteins to peroxisomes: a proteomics and immunofluorescence study.
in neuroendocrine cells, Rab18 acts as a negative regulator of secretory activity, likely by impairing secretory granule transport
Title: Rab18 inhibits secretory activity in neuroendocrine cells by interacting with secretory granules.
results show that a Rab protein localizes directly to the monolayer surface of lipid droplets
Title: Regulated localization of Rab18 to lipid droplets: effects of lipolytic stimulation and inhibition of lipid droplet catabolism.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

Go to the top of the page Help

Alleles

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

Gene trapped (1)
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (1)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH126534 (e-PCR)
- UniSTS:209674

AA959686 (e-PCR)
- UniSTS:160711

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 endoplasmic reticulum tubular network organization	ISO Inferred from Sequence Orthology more info
involved_in import into nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid droplet organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within lipid droplet organization	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum tubular network	ISO Inferred from Sequence Orthology more info
located_in lipid droplet	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in synapse	ISO Inferred from Sequence Orthology more info

General protein information

Go to the top of the page Help

Preferred Names: ras-related protein Rab-18

Names: GTP-binding protein Rab18

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001278447.1 → NP_001265376.1 ras-related protein Rab-18 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC131796

Consensus CDS

CCDS89186.1

UniProtKB/TrEMBL

A0A3Q4EI12

Related

ENSMUSP00000157198.2, ENSMUST00000234626.2

Conserved Domains (1) summary

cd01863
Location:9 → 175

Rab18; Rab GTPase family 18 (Rab18)
NM_181070.6 → NP_851415.1 ras-related protein Rab-18 isoform 2 precursor

See identical proteins and their annotated locations for NP_851415.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site in the coding region compared to variant 1. It encodes isoform 2 which is shorter compared to isoform 1.

Source sequence(s)

AC131796, AK034242, BC056351

Consensus CDS

CCDS29044.1

UniProtKB/Swiss-Prot

P35293, Q543V0

UniProtKB/TrEMBL

Q0PD38

Related

ENSMUSP00000157011.2, ENSMUST00000234810.2

Conserved Domains (1) summary

cd01863
Location:9 → 169

Rab18; Rab GTPase family 18 (Rab18)