• Gene id: 57799

Gene Summary

• Gene Symbol: RAB40C   Gene   UCSC   Ensembl
• Aliases: RARL, RASL8C
• Gene name: RAB40C, member RAS oncogene family
• Alternate names: ras-related protein Rab-40C, RAR (RAS like GTPASE) like, RAR like, RAS-like GTPase, RAS-like, family 8, member C, SOCS box-containing protein RAR3, rar-like protein, ras-like protein family member 8C,
• Gene location: 16p13.3 (589356: 629272)     Exons: 9     NC_000016.10
• OMIM: 0

Protein Summary

• Protein general information: Q96S21  
  • Name: Ras related protein Rab 40C (Rar like protein) (Ras like protein family member 8C) (SOCS box containing protein RAR3)
  • Length: 281  
  • Mass: 31304
• Sequence:

  MGSQGSPVKSYDYLLKFLLVGDSDVGKGEILESLQDGAAESPYAYSNGIDYKTTTILLDGRRVKLELWDTSGQGR
  FCTIFRSYSRGAQGILLVYDITNRWSFDGIDRWIKEIDEHAPGVPRILVGNRLHLAFKRQVPTEQARAYAEKNCM
  TFFEVSPLCNFNVIESFTELSRIVLMRHGMEKIWRPNRVFSLQDLCCRAIVSCTPVHLIDKLPLPVTIKSHLKSF
  SMANGMNAVMMHGRSYSLASGAGGGGSKGNSLKRSKSIRPPQSPPQNCSRSNCKIS

• 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: ENSP00000438492
• Other Databases: GeneCards:  RAB40C  Malacards:  RAB40C

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0019003	GDP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	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			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