• Gene id: 27314

Gene Summary

• Gene Symbol: RAB30   Gene   UCSC   Ensembl
• Gene name: RAB30, member RAS oncogene family
• Alternate names: ras-related protein Rab-30,
• Gene location: 11q14.1 (83071896: 82973132)     Exons: 7     NC_000011.10
• OMIM: 605693

Protein Summary

• Protein general information: Q15771  
  • Name: Ras related protein Rab 30
  • Length: 203  
  • Mass: 23058
• Sequence:

  MSMEDYDFLFKIVLIGNAGVGKTCLVRRFTQGLFPPGQGATIGVDFMIKTVEINGEKVKLQIWDTAGQERFRSIT
  QSYYRSANALILTYDITCEESFRCLPEWLREIEQYASNKVITVLVGNKIDLAERREVSQQRAEEFSEAQDMYYLE
  TSAKESDNVEKLFLDLACRLISEARQNTLVNNVSSPLPGEGKSISYLTCCNFN

• Structural information:
  • Interpro: IPR027417  IPR041820  IPR005225  IPR001806  
  • Prosite: PS51419
  • CDD: cd04114
  • PDB: 2EW1
  • PDBsum: 2EW1
  • DIP: 60519
  • STRING: ENSP00000435189
• Other Databases: GeneCards:  RAB30  Malacards:  RAB30

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006886	intracellular protein transport	IBA	biological process
GO:0003924	GTPase activity	IBA	molecular function
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0012505	endomembrane system	IBA	cellular component
GO:0032482	Rab protein signal transduction	IBA	biological process
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0005801	cis-Golgi network	IDA	cellular component
GO:0031985	Golgi cisterna	IDA	cellular component
GO:0007030	Golgi organization	IMP	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0032482	Rab protein signal transduction	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0003924	GTPase activity	TAS	molecular function
GO:0005795	Golgi stack	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq