• Gene id: 10966

Gene Summary

• Gene Symbol: RAB40B   Gene   UCSC   Ensembl
• Aliases: RAR, SEC4L
• Gene name: RAB40B, member RAS oncogene family
• Alternate names: ras-related protein Rab-40B, GTP-binding protein homologous to Saccharomyces cerevisiae SEC4, SOCS box-containing protein RAR, protein Rar,
• Gene location: 17q25.3 (123423841: 123344884)     Exons: 25     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene has similarity to a yeast protein which suggests a role of the gene product in regulating secretory vesicles. [provided by RefSeq, Jul 2008]

Protein Summary

• Protein general information: Q12829  
  • Name: Ras related protein Rab 40B (SOCS box containing protein RAR) (Protein Rar)
  • Length: 278  
  • Mass: 30956
• Sequence:

  MSALGSPVRAYDFLLKFLLVGDSDVGKGEILASLQDGAAESPYGHPAGIDYKTTTILLDGRRVKLQLWDTSGQGR
  FCTIFRSYSRGAQGVILVYDIANRWSFDGIDRWIKEIDEHAPGVPKILVGNRLHLAFKRQVPTEQAQAYAERLGV
  TFFEVSPLCNFNITESFTELARIVLLRHGMDRLWRPSKVLSLQDLCCRAVVSCTPVHLVDKLPLPIALRSHLKSF
  SMANGLNARMMHGGSYSLTTSSTHKRSSLRKVKLVRPPQSPPKNCTRNSCKIS

• Structural information:
  • Protein Domains: (175..22-)
    (/note="SOCS-box)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00194"-)
  • Interpro: IPR027417  IPR005225  IPR001806  IPR001496  IPR036036  
  • Prosite: PS51419 PS50225
  • STRING: ENSP00000461785
• Other Databases: GeneCards:  RAB40B  Malacards:  RAB40B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005635	nuclear envelope	IDA	cellular component
GO:1901998	toxin transport	IMP	biological process
GO:0072659	protein localization to plasma membrane	IBA	biological process
GO:0032482	Rab protein signal transduction	IBA	biological process
GO:0012505	endomembrane system	IBA	cellular component
GO:0008021	synaptic vesicle	IBA	cellular component
GO:0005768	endosome	IBA	cellular component
GO:0003924	GTPase activity	IBA	molecular function
GO:0006886	intracellular protein transport	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq