• Gene id: 9077

Gene Summary

• Gene Symbol: DIRAS3   Gene   UCSC   Ensembl
• Aliases: ARHI, NOEY2
• Gene name: DIRAS family GTPase 3
• Alternate names: GTP-binding protein Di-Ras3, DIRAS family, GTP-binding RAS-like 3, distinct subgroup of the Ras family member 3, ras homolog gene family, member I, rho-related GTP-binding protein RhoI,
• Gene location: 1p31.3 (68051630: 68045885)     Exons: 4     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the ras superfamily. This gene is imprinted gene with monoallelic expression of the paternal allele which is associated with growth suppression. The encoded protein acts as a tumor suppressor whose function is abrogated in ma
• OMIM: 605193

Protein Summary

• Protein general information: O95661  
  • Name: GTP binding protein Di Ras3 (Distinct subgroup of the Ras family member 3) (Rho related GTP binding protein RhoI)
  • Length: 229  
  • Mass: 25861
  • Tissue specificity: Expressed in normal ovarian and breast epithelial cells but not in ovarian and breast cancers.
• Sequence:

  MGNASFGSKEQKLLKRLRLLPALLILRAFKPHRKIRDYRVVVVGTAGVGKSTLLHKWASGNFRHEYLPTIENTYC
  QLLGCSHGVLSLHITDSKSGDGNRALQRHVIARGHAFVLVYSVTKKETLEELKAFYELICKIKGNNLHKFPIVLV
  GNKSDDTHREVALNDGATCAMEWNCAFMEISAKTDVNVQELFHMLLNYKKKPTTGLQEPEKKSQMPNTTEKLLDK
  CIIM

• Structural information:
  • Interpro: IPR027417  IPR005225  IPR001806  IPR020849  
  • Prosite: PS51421
  • PDB: 6NAZ
  • PDBsum: 6NAZ
  • STRING: ENSP00000360020
• Other Databases: GeneCards:  DIRAS3  Malacards:  DIRAS3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003924	GTPase activity	IBA	molecular function
GO:0005525	GTP binding	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:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003924	GTPase activity	TAS	molecular function
GO:0000079	regulation of cyclin-dependent protein serine/threonine kinase activity	TAS	biological process
GO:0006349	regulation of gene expression by genetic imprinting	TAS	biological process
GO:0007264	small GTPase mediated signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Idiopathic male infertility	MIK: 30373665
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
30373665	Idiopathic male infertility		Han Chi nese	135 (normozoospermia (n?=?39), moderate oligozoospermia (n?=?45), and severe oligozoospermia (n?=?51), and fertile controls (n?=?59))	Male infertility	NGS (Methylation pattern)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881