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Gene id

9077

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (68051761: 68045961) Exons: 2 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 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]

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: 25,861

Tissue specificity: Expressed in normal ovarian and breast epithelial cells but not in ovarian and breast cancers.

Sequence

MGNASFGSKEQKLLKRLRLLPALLILRAFKPHRKIRDYRVVVVGTAGVGKSTLLHKWASGNFRHEYLPTIENTYC
QLLGCSHGVLSLHITDSKSGDGNRALQRHVIARGHAFVLVYSVTKKETLEELKAFYELICKIKGNNLHKFPIVLV
GNKSDDTHREVALNDGATCAMEWNCAFMEISAKTDVNVQELFHMLLNYKKKPTTGLQEPEKKSQMPNTTEKLLDK
CIIM

Structural information

Motifs	Effector region.(66-74)
Interpro:	IPR027417 IPR005225 IPR001806 IPR020849
Prosite:	PS51421
Pfam:	PF00071
STRING:	ENSP00000360020;

Other Databases

GeneCards: DIRAS3; Malacards: DIRAS3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000079	regulation of cyclin-depe ndent protein serine/thre onine kinase activity	TAS	biological_process
GO:0003924	GTPase activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005525	GTP binding	IEA	molecular_function
GO:0005622	intracellular	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0006349	regulation of gene expres sion by genetic imprintin g	TAS	biological_process
GO:0007264	small GTPase mediated sig nal transduction	IEA	biological_process
GO:0000079	regulation of cyclin-depe ndent protein serine/thre onine kinase activity	TAS	biological_process
GO:0000166	nucleotide binding	IEA	molecular_function
GO:0003924	GTPase activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005525	GTP binding	IEA	molecular_function
GO:0005525	GTP binding	IEA	molecular_function
GO:0005622	intracellular	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0006349	regulation of gene expres sion by genetic imprintin g	TAS	biological_process
GO:0007165	signal transduction	IEA	biological_process
GO:0007264	small GTPase mediated sig nal transduction	IEA	biological_process
GO:0007264	small GTPase mediated sig nal transduction	TAS	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0000079	regulation of cyclin-depe ndent protein serine/thre onine kinase activity	TAS	biological_process
GO:0003924	GTPase activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0006349	regulation of gene expres sion by genetic imprintin g	TAS	biological_process
GO:0007264	small GTPase mediated sig nal transduction	TAS	biological_process

Diseases

Associated diseases	References
Cancer	PMID: 19482475
Endometriosis	PMID: 21602127
Endometriosis	INFBASE21602127

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
21602127	Endometrio sis					ARHI	Show abstract