• Gene id: 22931

Gene Summary

• Gene Symbol: RAB18   Gene   UCSC   Ensembl
• Aliases: RAB18LI1, WARBM3
• Gene name: RAB18, member RAS oncogene family
• Alternate names: ras-related protein Rab-18, RAB18 small GTPase,
• Gene location: 10p12.1 (27504303: 27542238)     Exons: 8     NC_000010.11
• Gene summary(Entrez): The protein encoded by this gene is a member of a family of Ras-related small GTPases that regulate membrane trafficking in organelles and transport vesicles. Knockdown studies is zebrafish suggest that this protein may have a role in eye and brain develo
• OMIM: 602207

Protein Summary

• Protein general information: Q9NP72  
  • Name: Ras related protein Rab 18
  • Length: 206  
  • Mass: 22977
  • Tissue specificity: Ubiquitous.
• Sequence:

  MDEDVLTTLKILIIGESGVGKSSLLLRFTDDTFDPELAATIGVDFKVKTISVDGNKAKLAIWDTAGQERFRTLTP
  SYYRGAQGVILVYDVTRRDTFVKLDNWLNELETYCTRNDIVNMLVGNKIDKENREVDRNEGLKFARKHSMLFIEA
  SAKTCDGVQCAFEELVEKIIQTPGLWESENQNKGVKLSHREEGQGGGACGGYCSVL

• Structural information:
  • Interpro: IPR027417  IPR025662  IPR005225  IPR001806  
  • Prosite: PS51419
  • PDB: 1X3S
  • PDBsum: 1X3S
  • DIP: 60514
• Other Databases: GeneCards:  RAB18  Malacards:  RAB18

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006886	intracellular protein transport	IBA	biological process
GO:0034389	lipid droplet organization	IBA	biological process
GO:0003924	GTPase activity	IBA	molecular function
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0012505	endomembrane system	IBA	cellular component
GO:0032482	Rab protein signal transduction	IBA	biological process
GO:0005811	lipid droplet	IDA	cellular component
GO:0019003	GDP binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007420	brain development	ISS	biological process
GO:0001654	eye development	ISS	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005811	lipid droplet	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0034389	lipid droplet organization	IMP	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0030667	secretory granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005622	intracellular	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0051170	import into nucleus	IEA	biological process
GO:0005811	lipid droplet	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0071782	endoplasmic reticulum tubular network	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007264	small GTPase mediated signal transduction	NAS	biological process
GO:0071786	endoplasmic reticulum tubular network organization	IMP	biological process
GO:0003924	GTPase activity	NAS	molecular function

Diseases

Associated diseases	References
Warburg micro syndrome	KEGG:H00792
Warburg micro syndrome	KEGG:H00792
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)