• Gene id: 6016

Gene Summary

• Gene Symbol: RIT1   Gene   UCSC   Ensembl
• Aliases: NS8, RIBB, RIT, ROC1
• Gene name: Ras like without CAAX 1
• Alternate names: GTP-binding protein Rit1, GTP-binding protein Roc1, Ric-like, expressed in many tissues, ras-like protein expressed in many tissues, ras-like without CAAX protein 1,
• Gene location: 1q22 (41990501: 42090460)     Exons: 18     NC_000004.12
• Gene summary(Entrez): This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal dev
• OMIM: 609591

Protein Summary

• Protein general information: Q92963  
  • Name: GTP binding protein Rit1 (Ras like protein expressed in many tissues) (Ras like without CAAX protein 1)
  • Length: 219  
  • Mass: 25145
  • Tissue specificity: Expressed in many tissues.
• Sequence:

  MDSGTRPVGSCCSSPAGLSREYKLVMLGAGGVGKSAMTMQFISHRFPEDHDPTIEDAYKIRIRIDDEPANLDILD
  TAGQAEFTAMRDQYMRAGEGFIICYSITDRRSFHEVREFKQLIYRVRRTDDTPVVLVGNKSDLKQLRQVTKEEGL
  ALAREFSCPFFETSAAYRYYIDDVFHALVREIRRKEKEAVLAMEKKSKPKNSVWKRLKSPFRKKKDSVT

• Structural information:
  • Interpro: IPR027417  IPR005225  IPR001806  IPR020849  
  • Prosite: PS51421
  • PDB: 4KLZ
  • PDBsum: 4KLZ
  • STRING: ENSP00000357305
• Other Databases: GeneCards:  RIT1  Malacards:  RIT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003924	GTPase activity	IDA	molecular function
GO:0005525	GTP binding	IDA	molecular function
GO:0003924	GTPase activity	IBA	molecular function
GO:0005516	calmodulin binding	IBA	molecular function
GO:0005525	GTP binding	IBA	molecular function
GO:0007265	Ras protein signal transduction	IBA	biological process
GO:0019003	GDP binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0007265	Ras protein signal transduction	IDA	biological process
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:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005516	calmodulin binding	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Noonan syndrome and related disorders	KEGG:H00523
Noonan syndrome and related disorders	KEGG:H00523
Noonan syndrome	KEGG:H01738
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray