• Gene id: 255426

Gene Summary

• Gene Symbol: RASGEF1C   Gene   UCSC   Ensembl
• Gene name: RasGEF domain family member 1C
• Alternate names: ras-GEF domain-containing family member 1C,
• Gene location: 5q35.3 (180209210: 180100794)     Exons: 14     NC_000005.10
• OMIM: 607786

Protein Summary

• Protein general information: Q8N431  
  • Name: Ras GEF domain containing family member 1C
  • Length: 466  
  • Mass: 52870
• Sequence:

  MPQTLSASDMVTPGSLSPPPTEPTDGEQAGQPLLDGAPSSASLETLIQHLVPTADYYPEKAYIFTFLLSSRLFIE
  PRELLARVCHLCIEQQQLDKPVLDKARVRKFGPKLLQLLAEWTETFPRDFQEESTIGHLKDVVGRIAPCDEAYRK
  RMHQLLQALHQKLAALRQGPEGLVGADKPISYRTKPPASIHRELLGVCSDPYTLAQQLTHVELERLRHIGPEEFV
  QAFVNKDPLASTKPCFSDKTSNLEAYVKWFNRLCYLVATEICMPAKKKQRAQVIEFFIDVARECFNIGNFNSLMA
  IISGMNMSPVSRLKKTWAKVRTAKFFILEHQMDPTGNFCNYRTALRGAAHRSLTAHSSREKIVIPFFSLLIKDIY
  FLNEGCANRLPNGHVNFEKFLELAKQVGEFITWKQVECPFEQDASITHYLYTAPIFSEDGLYLASYESESPENQT
  EKERWKALRSSILGKT

• Structural information:
  • Protein Domains: (34..16-)
    (/note="N-terminal-Ras-GEF)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00135-)
    (200..44-)
    (/note="Ras-GEF-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00168"-)
  • Interpro: IPR008937  IPR000651  IPR019804  IPR023578  IPR001895   IPR036964  
  • Prosite: PS00720 PS50009 PS50212
  • CDD: cd00155 cd06224
  • STRING: ENSP00000377037
• Other Databases: GeneCards:  RASGEF1C  Malacards:  RASGEF1C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray