DIRAS3 DIRAS family GTPase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DIRAS3provided by HGNC
Official Full Name: DIRAS family GTPase 3provided by HGNC
Primary source: HGNC:HGNC:687
See related: Ensembl:ENSG00000162595 MIM:605193; AllianceGenome:HGNC:687
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ARHI; NOEY2
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]
Expression: Biased expression in ovary (RPKM 20.7), adrenal (RPKM 6.9) and 11 other tissues See more
Orthologs: all
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Genomic context

Location:: 1p31.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (68045962..68050627, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (67923423..67928086, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (68511645..68516310, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DIRAS3 induces autophagy and enhances sensitivity to anti-autophagic therapy in KRAS-driven pancreatic and ovarian carcinomas.
Title: DIRAS3 induces autophagy and enhances sensitivity to anti-autophagic therapy in KRAS-driven pancreatic and ovarian carcinomas.
Expression of RASSF1A, DIRAS3, and AKAP9 Genes in Thyroid Lesions: Implications for Differential Diagnosis and Prognosis of Thyroid Carcinomas.
Title: Expression of RASSF1A, DIRAS3, and AKAP9 Genes in Thyroid Lesions: Implications for Differential Diagnosis and Prognosis of Thyroid Carcinomas.
DIRAS3 regulates autophagy in an endometriosis epithelial cell line.
Title: DIRAS3 regulates autophagy in an endometriosis epithelial cell line.
Elimination of dormant, autophagic ovarian cancer cells and xenografts through enhanced sensitivity to anaplastic lymphoma kinase inhibition.
Title: Elimination of dormant, autophagic ovarian cancer cells and xenografts through enhanced sensitivity to anaplastic lymphoma kinase inhibition.
A risk signature with four autophagy-related genes for predicting survival of glioblastoma multiforme.
Title: A risk signature with four autophagy-related genes for predicting survival of glioblastoma multiforme.
The Role of Methylation in the CpG Island of the ARHI Promoter Region in Cancers.
Title: The Role of Methylation in the CpG Island of the ARHI Promoter Region in Cancers.
DIRAS3 (ARHI) Blocks RAS/MAPK Signaling by Binding Directly to RAS and Disrupting RAS Clusters.
Title: DIRAS3 (ARHI) Blocks RAS/MAPK Signaling by Binding Directly to RAS and Disrupting RAS Clusters.
Epigenetic inhibition of the tumor suppressor ARHI by light at night-induced circadian melatonin disruption mediates STAT3-driven paclitaxel resistance in breast cancer.
Title: Epigenetic inhibition of the tumor suppressor ARHI by light at night-induced circadian melatonin disruption mediates STAT3-driven paclitaxel resistance in breast cancer.
Study found that both autophagy and apoptosis were induced after over-expressing ARHI in glioma cells suggesting that ARHI may be a functional tumor suppressor in glioma.
Title: Oncogenic Ras is downregulated by ARHI and induces autophagy by Ras/AKT/mTOR pathway in glioblastoma.
study reports somatic mutation of ARHI gene in hepatocellular carcinoma (HCC), however, only one ARHI mutation was detected; data indicate that somatic mutation in ARHI may be rare in HCCs and suggest that somatic mutational events in ARHI may not contribute to development of HCCs
Title: Somatic Mutation of ARHI Gene in Hepatocellular Carcinomas.

Submit: New GeneRIF Correction See all GeneRIFs (61)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2011-10-19) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2011-10-19) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S3040 (e-PCR)
- UniSTS:38517

AL034314 (e-PCR)
- UniSTS:94137

SHGC-57898 (e-PCR)
- UniSTS:14570

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GDP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in genomic imprinting	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cyclin-dependent protein serine/threonine kinase activity	TAS Traceable Author Statement more info	PubMed
involved_in small GTPase-mediated signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: GTP-binding protein Di-Ras3

Names: 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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011753.1 RefSeqGene

Range

5151..9816

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1034

mRNA and Protein(s)

NM_004675.5 → NP_004666.1 GTP-binding protein Di-Ras3 precursor

See identical proteins and their annotated locations for NP_004666.1

Status: REVIEWED

Source sequence(s)

AL157407

Consensus CDS

CCDS641.1

UniProtKB/Swiss-Prot

B3KMP3, O95661

Related

ENSP00000495736.1, ENST00000646789.1

Conserved Domains (1) summary

cl21455
Location:37 → 200

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases