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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DIRAS3 Gene

protein-coding   GIFtS: 48
GCID: GC01M068511

DIRAS family, GTP-binding RAS-like 3

(Previous names: ras homolog gene family, member I )
(Previous symbol: ARHI)
 Explore 8 diseases affiliated with
DIRAS3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DIRAS3    

Aliases
for DIRAS3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
DIRAS Family, GTP-Binding RAS-Like 31 2     Distinct Subgroup Of The Ras Family Member 32 3
ARHI1 2 3 5     Rho-Related GTP-Binding Protein RhoI2 3
NOEY21 2 3     GTP-Binding Protein Di-Ras32
Ras Homolog Gene Family, Member I1 2     RHOI3

External Ids:    HGNC: 6871   Entrez Gene: 90772   Ensembl: ENSG000001625957   OMIM: 6051935   UniProtKB: O956613   

Export aliases for DIRAS3 gene to outside databases

Previous GC identifers: GC01M068224 GC01M068284 GC01M066622


Summaries
for DIRAS3 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for DIRAS3:
This gene is a member of the ras superfamily, and is expressed in normal ovarian and breast epithelial cells, but not
in ovarian and breast cancers. It is an imprinted gene, with monoallelic expression of the paternal allele, which is
associated with growth suppression. Thus, this gene appears to be a putative tumor suppressor gene whose function is
abrogated in ovarian and breast cancers. (provided by RefSeq, Oct 2010)




Genomic Views
for DIRAS3 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DIRAS3 gene promoter:
         STAT5B   STAT1   STAT4   STAT6   STAT1beta   STAT5A   STAT1alpha   STAT2   STAT3   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for DIRAS3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DIRAS3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p31   Ensembl cytogenetic band:  1p31.3   HGNC cytogenetic band: 1p31

DIRAS3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DIRAS3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M068511:  view genomic region     (about GC identifiers)

Start:
 68,511,645 bp from pter      End:
 68,517,314 bp from pter
Size:
 5,670 bases      Orientation:
 minus strand

Proteins
for DIRAS3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: DIRA3_HUMAN, O95661 (See protein sequence)
Recommended Name: GTP-binding protein Di-Ras3 precursor  
Size: 229 amino acids; 25861 Da
Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential)
Secondary accessions: B3KMP3

Explore the universe of human proteins at neXtProt for DIRAS3: NX_O95661

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95661

    • DIRAS3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004666.1  
    ENSEMBL proteins: 
     ENSP00000360020   ENSP00000378627  

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    Uscn Proteins for DIRAS3

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--


    DIRAS3 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for DIRAS3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DIRAS3 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR020849 Small_GTPase_Ras

    Graphical View of Domain Structure for InterPro Entry O95661

    ProtoNet protein and cluster: O95661

    UniProtKB/Swiss-Prot: DIRA3_HUMAN, O95661
    Similarity: Belongs to the small GTPase superfamily. Di-Ras family


    Function
    for DIRAS3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DIRAS3
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    hsa-miR-579
    SwitchGear 3'UTR luciferase reporter plasmid: DIRAS3 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for DIRAS3

    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IEA--
    GO:0005515protein binding IPI--
    GO:0005525GTP binding IEA--


    DIRAS3 for ontologies           About GeneDecksing



    Pathways & Interactions
    for DIRAS3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DIRAS3

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for DIRAS3 (O956611 ENSP000003600204) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STAT3P407631, ENSP000002646574EBI-6139214,EBI-518675 STRING: ENSP00000264657
    PRAMEF3ENSP000003653434STRING: ENSP00000365343
    TUBB8ENSP000003288084STRING: ENSP00000328808
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000079regulation of cyclin-dependent protein kinase activity TAS9874798
    GO:0006184GTP catabolic process ----
    GO:0006349regulation of gene expression by genetic imprinting TAS9874798
    GO:0007264small GTPase mediated signal transduction IEA--


    DIRAS3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for DIRAS3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DIRAS3
    Search CenterWatch for drugs/clinical trials and news about DIRAS3 / DIRA3 

    Transcripts
    for DIRAS3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for DIRAS3 gene: 
    NM_004675.2  

    Unigene Cluster for DIRAS3:

    DIRAS family, GTP-binding RAS-like 3
    Hs.194695  [show with all ESTs]
    Unigene Representative Sequence: AK096393
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370981(uc001ded.3) ENST00000395201

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    hsa-miR-579
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    Inhib. RNA
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DIRAS3
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    Additional cDNA sequence: 

    AK021882.1 AK096393.1 BC005362.1 CR541870.1 CR541892.1 U96750.1 

    4 DOTS entries:

    DT.105317  DT.100746681  DT.91749219  DT.40217390 

    24/31 AceView cDNA sequences (see all 31):

    AA878446 U96750 NM_004675 BX114681 CD513232 BM544956 BI668300 AK096393 
    AI692753 CD237061 BC005362 BG707443 BI599064 BI603847 AL037802 BG541618 
    T17198 AI215023 AL037822 BF967643 AV754822 BF967422 BI668243 BG708862 

    GeneLoc Exon Structure


    Expression
    for DIRAS3 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DIRAS3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAGAAAAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    DIRAS3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Fetal cardiomyocytes (20 weeks) (Primary Cell)Heart, Myocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See DIRAS3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DIRAS3

    SOURCE GeneReport for Unigene cluster: Hs.194695

    UniProtKB/Swiss-Prot: DIRA3_HUMAN, O95661
    Tissue specificity: Expressed in normal ovarian and breast epithelial cells but not in ovarian and breast cancers

        SABiosciences Custom PCR Arrays for DIRAS3
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIRAS3

    Orthologs
    for DIRAS3 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for DIRAS3 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves DIRAS26
    		 Uncharacterized protein
    		 46(a)
    		 possible ortholog
    		 Z(43162466-43163065)
    lizard
    (Anolis carolinensis)    		 Reptilia DIRAS26
    DIRAS36
    (see all 3)    		 --
    		 48(a)
    47(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 2(32192591-32193190)
    GL343328.1(274449-275045)
    zebrafish
    (Danio rerio)    		 Actinopterygii diras1a6
    FP102769.16
    (see all 3)    		 --
    		 47(a)
    47(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 11(7470877-7487628)
    10(5601223-5601822)
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG85006
    		 --
    		 36(a)
    		 possible ortholog
    		 3R(5610408-5615059)
    worm
    (Caenorhabditis elegans)    		 Secernentea drn-16
    		 Di-Ras/Rig/Noey2 Ras-like protein homolog family m...
    		 42(a)
    		 1 ↔ 1
    		 II(5270349-5271807)


    ENSEMBL Gene Tree for DIRAS3 (if available)
    TreeFam Gene Tree for DIRAS3 (if available) 

    Paralogs
    for DIRAS3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DIRAS3 gene
    RAP2C2  RASL10B2  DIRAS12  RAP1B2  RASD22  RAP2A2  RAP1A2  RAP2B2  
    RASD12  DIRAS22  RASL10A2  
    17 SIMAP similar genes for DIRAS3 using alignment to 1 protein entry:     DIRA3_HUMAN:
    DIRAS1    DIRAS2    DKFZp547A0616    RAP2A    RAP2B    RAP1A
    RAP2C    RAP1B    RASD2    RALB    RHEBL1    RIT1
    RRAS    NRAS    RIT2    MRAS    RRAS2

    DIRAS3 for paralogs           About GeneDecksing



    Genomic Variants
    for DIRAS3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/147 NCBI SNPs in DIRAS3 are shown (see all 147)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs2002709931,2
    		C--66621268(+) CCCAAA/TTTAAA 1 -- ds50010--------
    rs575253601,2
    		C,F,--66621394(+) TCATTC/TCTCCC 1 -- ds50017Minor allele frequency- T:0.20WA NA CSA 247
    rs608226161,2
    		C,F,--66621576(+) ACAGCT/CCTGTA 1 -- ds50017Minor allele frequency- C:0.20WA NA CSA 247
    rs740813401,2
    		C,--66621619(+) ATATTG/AGATAA 1 -- ds50012Minor allele frequency- A:0.11WA 120
    rs1113555161,2
    		--66621690(+) GTTTAC/AATTTT 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs729346401,2
    		C,--66622038(+) AAGGTC/AATACA 1 -- ut311Minor allele frequency- A:0.50WA 2
    rs1120112401,2
    		--66622067(+) AAGGAT/CGCCTT 1 -- ut311Minor allele frequency- C:0.00CSA 1
    rs118010531,2
    		C,F,A,H,--66622273(+) GACAAC/TATGGA 1 -- ut3126Minor allele frequency- T:0.17NA NS EA WA CSA 2507
    rs115540431,2
    		H--66622824(-) TTTCCC/ATGCAC 2 /M /L mis1 ese34Minor allele frequency- A:0.00NS EA 406
    rs115900521,2
    		C,A,H--66623736(+) CTGTCA/CCCATG 1 -- int10--------

    HapMap Linkage Disequilibrium report for DIRAS3 (68511645 - 68517314 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DIRAS3: --

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for DIRAS3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    DIRAS3 for disorders           About GeneDecksing

    OMIM gene information: 605193    OMIM disorders: --

    8 diseases for DIRAS3:    About MalaCards
    breast cancer    breast-ovarian cancer    ovarian cancer    hepatocellular carcinoma
    pancreatic cancer    breast carcinoma    pancreatitis    carcinoma

    Human Genome Epidemiology (HuGE) Navigator: DIRAS3 (1 document)

    Export disorders for DIRAS3 gene to outside databases

    Publications
    for DIRAS3 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DIRAS3 gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with DIRAS3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. NOEY2 (ARHI), an imprinted putative tumor suppressor gene in ovarian and breast carcinomas. (PubMed id 9874798)1, 2, 3, 9 Yu Y.H.... Bast R.C. Jr. (1999)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Genomic structure and promoter characterization of an imprinted tumor suppressor gene ARHI. (PubMed id 11418188)1, 2 Luo R.Z.... Yu Y. (2001)
    6. ARHI (DIRAS3), an imprinted tumour suppressor gene, b inds to importins and blocks nuclear import of cargo proteins. (PubMed id 19435463)1, 9 Huang S....Yu Y. (2010)
    7. Frequent biallelic inactivation and transcriptional silencing of the DIRAS3 gene at 1p31 in oligodendroglial tumors with 1p loss. (PubMed id 18302158)1, 9 Riemenschneider M.J....Reifenberger G. (2008)
    8. The tumor suppressor DiRas3 forms a complex with H-Ras and C-RAF proteins and regulates localization, dimerization, and kinase activit y of C-RAF. (PubMed id 22605333)1 Baljuls A....Rapp U.R. (2012)
    9. The expression of ARHI in pT2a and pT2b stage gastric cancer and its clinical significance. (PubMed id 22427032)1 Wang W....Zhao C.H. (2012)
    10. The tumor-suppressor gene ARHI (DIRAS3) suppresses ova rian cancer cell migration through inhibition of the Stat3 and FAK/Rho signaling pathways. (PubMed id 21643014)1 Badgwell D.B....Bast R.C. (2012)

    External Searches for DIRAS3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing DIRAS3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9077 HGNC: 687 AceView: ARHI Ensembl:ENSG00000162595 euGenes: HUgn9077
    ECgene: DIRAS3 H-InvDB: DIRAS3

    Other Databases showing DIRAS3 gene

    (According to HUGE)
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    Specialized Databases showing DIRAS3 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DIRAS3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DIRAS3 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/NOEY2

    Intellectual Property
    for DIRAS3 gene

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    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    		Patent Information for DIRAS3 gene:
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