• Gene id: 148252

Gene Summary

• Gene Symbol: DIRAS1   Gene   UCSC   Ensembl
• Aliases: Di-Ras1, GBTS1, RIG
• Gene name: DIRAS family GTPase 1
• Alternate names: GTP-binding protein Di-Ras1, DIRAS family, GTP-binding RAS-like 1, distinct subgroup of the Ras family member 1, ras-related inhibitor of cell growth, small GTP-binding tumor suppressor 1,
• Gene location: 19p13.3 (2721371: 2714566)     Exons: 3     NC_000019.10
• Gene summary(Entrez): DIRAS1 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004]
• OMIM: 613785

Protein Summary

• Protein general information: O95057  
  • Name: GTP binding protein Di Ras1 (Distinct subgroup of the Ras family member 1) (Ras related inhibitor of cell growth) (Rig) (Small GTP binding tumor suppressor 1)
  • Length: 198  
  • Mass: 22329
  • Tissue specificity: Highly expressed in heart and brain. {ECO
• Sequence:

  MPEQSNDYRVVVFGAGGVGKSSLVLRFVKGTFRDTYIPTIEDTYRQVISCDKSVCTLQITDTTGSHQFPAMQRLS
  ISKGHAFILVFSVTSKQSLEELGPIYKLIVQIKGSVEDIPVMLVGNKCDETQREVDTREAQAVAQEWKCAFMETS
  AKMNYNVKELFQELLTLETRRNMSLNIDGKRSGKQKRTDRVKGKCTLM

• Structural information:
  • Interpro: IPR027417  IPR005225  IPR001806  IPR020849  
  • Prosite: PS51421
  • PDB: 2GF0
  • PDBsum: 2GF0
  • STRING: ENSP00000325836
• Other Databases: GeneCards:  DIRAS1  Malacards:  DIRAS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005525	GTP binding	IBA	molecular function
GO:0003924	GTPase activity	IBA	molecular function
GO:0019003	GDP binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0043406	positive regulation of MAP kinase activity	IDA	NOT|biological process
GO:0005525	GTP binding	IDA	molecular function
GO:0003924	GTPase activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0051019	mitogen-activated protein kinase binding	IPI	NOT|molecular function
GO:0051019	mitogen-activated protein kinase binding	IPI	NOT|molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray