• Gene id: 221002

Gene Summary

• Gene Symbol: RASGEF1A   Gene   UCSC   Ensembl
• Aliases: CG4853
• Gene name: RasGEF domain family member 1A
• Alternate names: ras-GEF domain-containing family member 1A, CG4853 gene product,
• Gene location: 10q11.21 (43267064: 43194532)     Exons: 15     NC_000010.11
• OMIM: 610624

Protein Summary

• Protein general information: Q8N9B8  
  • Name: Ras GEF domain containing family member 1A
  • Length: 481  
  • Mass: 54556
  • Tissue specificity: Detected in brain and spinal cord. Highly expressed in a number of intrahepatic cholangiocarcinoma tissue biopsies. {ECO
• Sequence:

  MPQTSVVFSSILGPSCSGQVQPGMGERGGGAGGGSGDLIFQDGHLISGSLEALMEHLVPTVDYYPDRTYIFTFLL
  SSRVFMPPHDLLARVGQICVEQKQQLEAGPEKAKLKSFSAKIVQLLKEWTEAFPYDFQDEKAMAELKAITHRVTQ
  CDEENGTVKKAIAQMTQSLLLSLAARSQLQELREKLRPPAVDKGPILKTKPPAAQKDILGVCCDPLVLAQQLTHI
  ELDRVSSIYPEDLMQIVSHMDSLDNHRCRGDLTKTYSLEAYDNWFNCLSMLVATEVCRVVKKKHRTRMLEFFIDV
  ARECFNIGNFNSMMAIISGMNLSPVARLKKTWSKVKTAKFDVLEHHMDPSSNFCNYRTALQGATQRSQMANSSRE
  KIVIPVFNLFVKDIYFLHKIHTNHLPNGHINFKKFWEISRQIHEFMTWTQVECPFEKDKKIQSYLLTAPIYSEEA
  LFVASFESEGPENHMEKDSWKTLRTTLLNRA

• Structural information:
  • Protein Domains: (41..17-)
    (/note="N-terminal-Ras-GEF)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00135-)
    (214..46-)
    (/note="Ras-GEF-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00168"-)
  • Interpro: IPR008937  IPR000651  IPR023578  IPR001895  IPR036964  
  • Prosite: PS50009 PS50212
  • CDD: cd00155 cd06224
  • STRING: ENSP00000363583
• Other Databases: GeneCards:  RASGEF1A  Malacards:  RASGEF1A

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
GO:0046579	positive regulation of Ras protein signal transduction	IDA	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0016477	cell migration	IDA	biological process
GO:0005088	Ras guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005088	Ras guanyl-nucleotide exchange factor activity	IDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq