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

DIRAS1 Gene

protein-coding   GIFtS: 45
GCID: GC19M002665

DIRAS Family, GTP-Binding RAS-Like 1

  Search for DIRAS1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
DIRAS Family, GTP-Binding RAS-Like 11 2     RIG2 3
Distinct Subgroup Of The Ras Family Member 12 3     Di-Ras12
Ras-Related Inhibitor Of Cell Growth2 3     GTP-Binding Protein Di-Ras12
Small GTP-Binding Tumor Suppressor 12 3     Rig3
GBTS12 3     

External Ids:    HGNC: 191271   Entrez Gene: 1482522   Ensembl: ENSG000001764907   OMIM: 6078625   UniProtKB: O950573   

Export aliases for DIRAS1 gene to outside databases

Previous GC identifers: GC19M002783 GC19M002654 GC19M002484


(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 DIRAS1 Gene:
DIRAS1 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of
monomeric GTPases.(supplied by OMIM, Apr 2004)

GeneCards Summary for DIRAS1 Gene: 
DIRAS1 (DIRAS family, GTP-binding RAS-like 1) is a protein-coding gene. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAP2C.

UniProtKB/Swiss-Prot: DIRA1_HUMAN, O95057
Function: Displays low GTPase activity and exist predominantly in the GTP-bound form




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011255.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DIRAS1 gene promoter:
         E2F-4   E2F-3a   NF-1   NF-1/L   E2F-5   Pax-5   E2F-2   E2F   E2F-1   COMP1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for DIRAS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DIRAS1


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

DIRAS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DIRAS1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M002665:  view genomic region     (about GC identifiers)

Start:
2,714,565 bp from pter      End:
2,721,416 bp from pter
Size:
6,852 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DIRA1_HUMAN, O95057 (See protein sequence)
Recommended Name: GTP-binding protein Di-Ras1 precursor  
Size: 198 amino acids; 22329 Da
Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential)
1 PDB 3D structure from and Proteopedia for DIRAS1:
2GF0 (3D)    

Explore the universe of human proteins at neXtProt for DIRAS1: NX_O95057

Explore proteomics data for DIRAS1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95057

  • DIRAS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DIRAS1 Protein Expression
    REFSEQ proteins: NP_660156.1  
    ENSEMBL proteins: 
     ENSP00000325836   ENSP00000468417   ENSP00000466733  

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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for DIRAS1
    Cloud-Clone Corp. Proteins for DIRAS1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005886plasma membrane IEA--
    GO:0016020membrane ----

    DIRAS1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR027417 P-loop_NTPase
     IPR020849 Small_GTPase_Ras

    Graphical View of Domain Structure for InterPro Entry O95057

    ProtoNet protein and cluster: O95057

    2 Blocks protein domains:
    IPB001806 Transforming protein P21 RAS signature
    IPB003577 Ras small GTPase


    UniProtKB/Swiss-Prot: DIRA1_HUMAN, O95057
    Similarity: Belongs to the small GTPase superfamily. Di-Ras family


    DIRAS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DIRA1_HUMAN, O95057
    Function: Displays low GTPase activity and exist predominantly in the GTP-bound form

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IEA--
    GO:0005525GTP binding IEA--
         
    DIRAS1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for DIRAS1 
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    SwitchGear 3'UTR luciferase reporter plasmidDIRAS1 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DIRAS1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process ----
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction IEA--
    GO:0015031protein transport ----

    DIRAS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 DIRAS1 (DIRA1)

    1 HMDB Compound for DIRAS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    Search CenterWatch for drugs/clinical trials and news about DIRAS1 / DIRA1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DIRAS1 gene: 
    NM_145173.3  

    Unigene Cluster for DIRAS1:

    DIRAS family, GTP-binding RAS-like 1
    Hs.172753  [show with all ESTs]
    Unigene Representative Sequence: NM_145173
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000323469(uc002lwf.3) ENST00000585334 ENST00000588128
    miRNA
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DIRAS1
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    Additional mRNA sequence: 

    AB076888.1 AK124445.1 AK124672.1 AL833958.1 AY056037.1 AY059641.1 AY180973.1 BC017484.1 
    BC030660.1 

    1 DOTS entry:

    DT.449105 

    24/116 AceView cDNA sequences (see all 116):

    BM699757 BM693797 CR749709 BM698156 AI290779 BQ433241 BM663937 BQ437350 
    AY059641 BQ424038 BQ961686 CD675176 CR614848 BG577052 BC017484 BX645307 
    BQ876832 AY056037 AK124445 F11239 BM705635 BU623894 BX952049 BQ008085 

    GeneLoc Exon Structure


    (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

    DIRAS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGGTGCCCC
    DIRAS1 Expression
    About this image


    See DIRAS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DIRAS1

    SOURCE GeneReport for Unigene cluster: Hs.172753

    UniProtKB/Swiss-Prot: DIRA1_HUMAN, O95057
    Tissue specificity: Highly expressed in heart and brain

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIRAS1

    (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 DIRAS1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Diras11 , 5 DIRAS family, GTP-binding RAS-like 11, 5 90.07(n)1
    93.94(a)1
      10 (39.72 cM)5
    2086661  NM_145217.21  NP_660252.11 
     810195895 
    chicken
    (Gallus gallus)
    Aves LOC1008589971 GTP-binding protein Di-Ras2-like 90.07(n)
    90.4(a)
      100858997  XM_003642875.1  XP_003642923.1 
    lizard
    (Anolis carolinensis)
    Reptilia DIRAS16
    Uncharacterized protein
    90(a)
    1 ↔ 1
    AAWZ02038790(1731-2327)
    zebrafish
    (Danio rerio)
    Actinopterygii BC044147.12   -- 80.65(n)   327577  BC044147.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG85006
    --
    62(a)
    1 → many
    3R(5610408-5615059)
    worm
    (Caenorhabditis elegans)
    Secernentea drn-16
    Protein DRN-1
    50(a)
    1 → many
    II(5270366-5271824)


    ENSEMBL Gene Tree for DIRAS1 (if available)
    TreeFam Gene Tree for DIRAS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DIRAS1 gene
    RAP2C2  RAP1B2  RALA2  RIT22  RAP2A2  RIT12  RALB2  RAP1A2  
    RAP2B2  NRAS2  DIRAS22  KRAS2  HRAS2  DIRAS32  
    18/64 SIMAP similar genes for DIRAS1 using alignment to 2 protein entries:     DIRA1_HUMAN (see all proteins) (see all similar genes):
    DIRAS2    DIRAS3    RAP2A    RAP1B    RAP1A    DKFZp547A0616
    RAP2B    RAP2C    RRAS    RHEB    HRAS    RIT2
    c-bas/has    NRAS    KRAS    RAB15    RASD2    RIT1

    DIRAS1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/253 SNPs in DIRAS1 are shown (see all 253)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2005420341,2
    C--2714082(+) CTTCAC/TCCCAT 1 -- int10--------
    rs1830142781,2
    C--2714155(+) ACCACC/TTCCTC 1 -- int10--------
    rs1480457351,2
    C--2714160(+) TTCCT-/CCACCC 1 -- int10--------
    rs1855430031,2
    --2714170(+) CTTCAC/TCCCAT 1 -- int10--------
    rs2009781391,2
    --2714293(+) TTCTC-/AACCCT 1 -- int10--------
    rs2012851291,2
    C--2714371(+) ACCCAC/TCACCT 1 -- int10--------
    rs1124839971,2
    F--2714519(+) ACAGGC/TGGTGA 1 -- int13Minor allele frequency- T:0.28CSA WA 122
    rs1906952361,2
    C--2714586(+) ATCCAC/GTTTTT 1 -- ut310--------
    rs82121,2
    C,F,A,H--2714637(+) CCCCAC/TGATGG 1 -- ut3111Minor allele frequency- T:0.31MN NS NA WA CSA 1277
    rs147131,2
    C,F,A,H--2714666(+) ATGCGG/AGGGGA 1 -- ut31 trp35Minor allele frequency- A:0.27NA CSA WA EA 361

    HapMap Linkage Disequilibrium report for DIRAS1 (2714565 - 2721416 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 variations for DIRAS1 (see all 15):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2229192CNV Deletion18987734
    nsv509714CNV Insertion20534489
    nsv910676CNV Loss21882294
    nsv470109CNV Loss18288195
    nsv910689CNV Loss21882294
    dgv3642n71CNV Loss21882294
    dgv3641n71CNV Loss21882294
    nsv910680CNV Loss21882294
    nsv819697CNV Loss19587683
    dgv3643n71CNV Loss21882294

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

    DIRAS1 for disorders           About MalaCards
    OMIM gene information: 607862    OMIM disorders: --


    DIRAS1 for disorders           About GeneDecksing


    Export disorders for DIRAS1 gene to outside databases

    (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 DIRAS1 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with DIRAS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Rig is a novel Ras-related protein and potential neural tumor suppressor. (PubMed id 12107278)1, 2, 3 Ellis C.A....Clark G.J. (2002)
    2. 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)
    3. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    4. Di-Ras, a distinct subgroup of ras family GTPases with unique biochemical properties. (PubMed id 12194967)1, 2 Kontani K.... Katada T. (2002)
    5. Downregulation of the novel tumor suppressor DIRAS1 pr edicts poor prognosis in esophageal squamous cell carcinoma. (PubMed id 23436800)1 Zhu Y.H....Guan X.Y. (2013)
    6. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. Comparison of substrate specificity of the ubiquitin ligases Nedd4 and Nedd4-2 using proteome arrays. (PubMed id 19953087)1 Persaud A....Rotin D. (2009)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 148252 HGNC: 19127 AceView: DIRAS1 Ensembl:ENSG00000176490 euGenes: HUgn148252
    ECgene: DIRAS1 H-InvDB: DIRAS1

    (According to HUGE)
    About This Section
      --

    (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 DIRAS1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DIRAS1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DIRAS1 gene:
    Search GeneIP for patents involving DIRAS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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