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

    Gene ID: 9077, updated on 10-Dec-2024

    Summary

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    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

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    See DIRAS3 in Genome Data Viewer
    Location:
    1p31.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (68045962..68050627, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (67923423..67928086, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (68511645..68516310, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene GNG12, DIRAS3 and WLS antisense RNA 1 Neighboring gene uncharacterized LOC124900403 Neighboring gene sirtuin 5 pseudogene Neighboring gene ARL5A pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 5584 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:68613408-68614607 Neighboring gene Wnt ligand secretion mediator Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:68627528-68628104 Neighboring gene CTBP2 pseudogene 8 Neighboring gene microRNA 1262

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. [Differential expression of the anti-oncogene ARHI between patients with and without endometriosis]. Li J, et al. Nan Fang Yi Ke Da Xue Xue Bao, 2011 May. PMID 21602127
    2. The tumor suppressor gene ARHI regulates autophagy and tumor dormancy in human ovarian cancer cells. Lu Z, et al. J Clin Invest, 2008 Dec. PMID 19033662, Free PMC Article
    3. NOEY2 mutations in primary breast cancers and breast hyperplasia. Yang J, et al. Breast, 2009 Jun. PMID 19482475
    4. ARHI (DIRAS3)-mediated autophagy-associated cell death enhances chemosensitivity to cisplatin in ovarian cancer cell lines and xenografts. Washington MN, et al. Cell Death Dis, 2015 Aug 6. PMID 26247722, Free PMC Article
    5. Expression of the tumor suppressor ARHI inhibits the growth of pancreatic cancer cells by inducing G1 cell cycle arrest. Lu X, et al. Oncol Rep, 2009 Sep. PMID 19639215

    See all (76) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Intrinsically Disordered Membrane Anchors of Rheb, RhoA, and DiRas3 Small GTPases: Molecular Dynamics, Membrane Organization, and Interactions.
      Title: Intrinsically Disordered Membrane Anchors of Rheb, RhoA, and DiRas3 Small GTPases: Molecular Dynamics, Membrane Organization, and Interactions.
    2. 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.
    3. 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.
    4. DIRAS3 regulates autophagy in an endometriosis epithelial cell line.
      Title: DIRAS3 regulates autophagy in an endometriosis epithelial cell line.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (62)

    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

    Homology

    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

    1. NG_011753.1 RefSeqGene

      Range
      5151..9816
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1034

    mRNA and Protein(s)

    1. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      68045962..68050627 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      67923423..67928086 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95661.1 GenPept UniProtKB/Swiss-Prot:O95661

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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