DIRAS3: Polycystic Ovarian Syndrome Database

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DIRAS3

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

References

Gene Information

Gene Symbol

DIRAS3

Aliases

ARHI, NOEY2

Entrez Gene ID

9077

Gene Name

DIRAS family GTPase 3

Chromosomal Location

1p31.3

HGNC ID

HGNC:687

Summary

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 many ovarian and breast cancers. This protein may also play a role autophagy in certain cancer cells by regulating the autophagosome initiation complex. [provided by RefSeq, Nov 2015]

RefSeq DNA

NG_011753.1

RefSeq mRNA

NM_004675.4

e!Ensembl

Gene	ENSG00000162595
Transcript	ENST00000370981, ENST00000646789
Protein	ENSP00000360020, ENSP00000495736

Gene Ontology (GO)

Show/Hide all(8 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000079	Biological process	Regulation of cyclin-dependent protein serine/threonine kinase activity	TAS	9874798
GO:0006349	Biological process	Regulation of gene expression by genetic imprinting	TAS	9874798
GO:0007264	Biological process	Small GTPase mediated signal transduction	TAS	9874798
GO:0005886	Cellular component	Plasma membrane	IBA	21873635
GO:0003924	Molecular function	GTPase activity	IBA	21873635
GO:0005515	Molecular function	Protein binding	IPI	21643014
GO:0005525	Molecular function	GTP binding	IBA	21873635
GO:0019003	Molecular function	GDP binding	IBA	21873635

Protein Information

Protein Name

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

Function

Refseq Proteins

NP_004666.1

UniProt

O95661

Pfam

Pfam Accession	Pfam ID
PF00071	Ras

Interactions

STRING	MINT	IntAct
ENSP00000360020	O95661	O95661

View interactions

Associated Diseases

Show/Hide all(3 )

Disease group	Disease Name	References
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
	Russell-Silver syndrome	23533668
Endocrine System Diseases
Endocrine System Diseases	PCOS	29344314
Neoplasms
	Oligodendroglioma	18302158
	Ovarian Cancer	24135786, 12874023, 9874798, 24879154, 15475444, 10797292, 12724231, 12499268, 21643014, 16638845, 12771940, 18286529, 16061651, 15785748
	Osteosarcoma	27685841
	Stomach Carcinoma	22497484
	Breast Cancer	9874798, 12499268, 23801152, 10797292, 23871723, 19482475, 12874023, 25193278, 12485503
	Cancer Metastasis	22497484
	Liver Cancer	18612997
	Prostate cancer	21071579
	Intrahepatic cholangiocarcinoma	18612997
	Glioma	18302158
	Stomach Cancer	22497484
	Prostate Carcinoma	21071579
	Pancreatic Neoplasm	12724231
	Germ Cell Tumor	10797292

References

Show/Hide all(1)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
29344314		PCOS, Lipid and Steroid metabolism		Rotterdam Criteria	Direct	79 PCOs patients and 93 controls	The results of qPCR showed that the expression of related genes were in accordance with the RNA-seq analysis results.

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