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

RUNDC3A Gene

protein-coding   GIFtS: 50
GCID: GC17P042385

RUN domain containing 3A

 Explore 5 diseases affiliated with
RUNDC3A via our new
 Human Malady Compendium 
Biological research products
for RUNDC3A
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
RUN Domain Containing 3A1 2     RPIP-82 3
RPIP81 2 3 5     RaP2 Interacting Protein 82
RAP2IP1 2 3     RUN Domain-Containing Protein 3A2
Rap2-Interacting Protein 82 3     

External Ids:    HGNC: 169841   Entrez Gene: 109002   Ensembl: ENSG000001083097   OMIM: 6054485   UniProtKB: Q59EK93   

Export aliases for RUNDC3A gene to outside databases

Previous GC identifers: GC17P039743 GC17P038149


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: RUN3A_HUMAN, Q59EK9
Function: May act as an effector of RAP2A in neuronal cells (By similarity)

Gene Wiki entry for RUNDC3A


(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_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RUNDC3A gene promoter:
         Lmo2   NF-kappaB   Roaz   GATA-2   C/EBPalpha   CREB   RORalpha1   FAC1   deltaCREB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRUNDC3A promoter sequence
   Search SABiosciences Chromatin IP Primers for RUNDC3A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RUNDC3A


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

Entrez Gene cytogenetic band: 17q21.31   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21.31

RUNDC3A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RUNDC3A gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P042385:  view genomic region     (about GC identifiers)

Start:
42,385,781 bp from pter      End:
42,396,039 bp from pter
Size:
10,259 bases      Orientation:
plus strand

(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: RUN3A_HUMAN, Q59EK9 (See protein sequence)
Recommended Name: RUN domain-containing protein 3A  
Size: 446 amino acids; 49747 Da
Subunit: Interacts with the GTP-bound form of RAP2A (By similarity)
Sequence caution: Sequence=BAD93039.1; Type=Erroneous initiation;
Secondary accessions: B2R974 O15483 O60651 Q7Z3S2 Q9UF50
Alternative splicing: 4 isoforms:  Q59EK9-1   Q59EK9-2   Q59EK9-3   Q59EK9-4   

Explore the universe of human proteins at neXtProt for RUNDC3A: NX_Q59EK9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q59EK9

  • RUNDC3A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001138297.1  NP_001138298.1  NP_006686.1  

    ENSEMBL proteins: 
     ENSP00000410862   ENSP00000468214   ENSP00000225441  

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    Uscn Proteins for RUNDC3A


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

    RUNDC3A for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR004012 Run

    Graphical View of Domain Structure for InterPro Entry Q59EK9

    ProtoNet protein and cluster: Q59EK9

    UniProtKB/Swiss-Prot: RUN3A_HUMAN, Q59EK9
    Similarity: Belongs to the RUNDC3 family
    Similarity: Contains 1 RUN domain


    (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

    Function Summary:

         UniProtKB/Swiss-Prot: RUN3A_HUMAN, Q59EK9
    Function: May act as an effector of RAP2A in neuronal cells (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005083small GTPase regulator activity TAS9523700


    RUNDC3A for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for RUNDC3A:
     Decreased homologous recombina  Increased gamma-H2AX phosphory 


    (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 RUNDC3A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/10 Interacting proteins for RUNDC3A (Q59EK92, 3 ENSP000004108624) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAP2BP612252, 3, ENSP000003190964MINT-67921 I2D: score=5 STRING: ENSP00000319096
    GFI1BQ5VTD92, 3, ENSP000003447824MINT-2868798 I2D: score=3 STRING: ENSP00000344782
    EIF3EP602282, 3, ENSP000002208494MINT-68117 I2D: score=5 STRING: ENSP00000220849
    AP2M1Q96CW12, 3, ENSP000002928074MINT-67022 I2D: score=5 STRING: ENSP00000292807
    AP1M1Q9BXS52, 3, ENSP000003889964MINT-67712 I2D: score=4 STRING: ENSP00000388996
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007264small GTPase mediated signal transduction TAS9523700


    RUNDC3A for ontologies           About GeneDecksing



    (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 RUNDC3A

    1 HMDB Compound for RUNDC3A    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 RUNDC3A / RUN3A 

    (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 RUNDC3A gene (3 alternative transcripts): 
    NM_001144825.1  NM_001144826.1  NM_006695.4  

    Unigene Cluster for RUNDC3A:

    RUN domain containing 3A
    Hs.500197  [show with all ESTs]
    Unigene Representative Sequence: AK123330
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000590834 ENST00000426726(uc002igl.4) ENST00000590941 ENST00000225441(uc002igi.3 uc002igj.3)
    ENST00000587483 ENST00000593079 ENST00000588564

    miRNA
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    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate RUNDC3A (see all 14):
    hsa-miR-27a hsa-miR-622 hsa-miR-4312 hsa-miR-323b-3p hsa-miR-128 hsa-miR-3681* hsa-miR-4290 hsa-miR-3151
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RUNDC3A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RUNDC3A

    Additional cDNA sequence: 

    AB209802.1 AF055026.1 AK123330.1 AK226045.1 AK313669.1 BC006194.2 BC013240.1 BX537443.1 
    CR456748.1 U93871.1 

    10 DOTS entries:

    DT.95197800  DT.100023074  DT.100703539  DT.99985457  DT.95258640  DT.100781747  DT.100677720  DT.447341 
    DT.120962289  DT.92022828 

    24/148 AceView cDNA sequences (see all 148):

    AW955730 CA844039 F02435 BF528631 AF055026 AA703627 AW273589 F04620 
    BQ424069 Z41459 BI522630 AW631487 AL133657 BG820322 BI757278 F10154 
    CR622819 BM922170 AL043463 BC013240 AK123330 BI549532 BU071650 BX353645 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for RUNDC3A (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12 ^ 13
    SP1:                                                                                                  -                                 
    SP2:                                -                                                                                                   
    SP3:                                -                                                                                                   
    SP4:                                                                                                  -                                 
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for RUNDC3A

    (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

    RUNDC3A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGGGCAGGGA

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

    About this image
    See RUNDC3A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RUNDC3A

    SOURCE GeneReport for Unigene cluster: Hs.500197
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    In Situ
    Assay Products:
     

     
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    (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 chordates.

    Orthologs for RUNDC3A gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves LOC1008583141 RUN domain-containing protein 3A-like 82.82(n)
    84.16(a)
      100858314  XM_003642787.1  XP_003642835.1 
    lizard
    (Anolis carolinensis)
    Reptilia RUNDC3A6
    --
    86(a)
    1 ↔ 1
    6(66863739-66896648)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.155172 Xenopus laevis transcribed sequence with moderate similarity more 78.1(n)    BJ040173.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc559222 similar to Rap2 interacting protein 75.3(n)   393118  BC044502.1 


    ENSEMBL Gene Tree for RUNDC3A (if available)
    TreeFam Gene Tree for RUNDC3A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RUNDC3A gene
    RUFY22  RUNDC3B2  RUFY32  RUFY12  
    2 SIMAP similar genes for RUNDC3A using alignment to 1 protein entry:     RUN3A_HUMAN:
    RUNDC3B    RUFY2

    RUNDC3A for paralogs           About GeneDecksing



    (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

    10/163 NCBI SNPs in RUNDC3A are shown (see all 163    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1115080061,2
    --42383978(+) GAATGG/ATTAAG 3 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1932751051,2
    --42383995(+) CGGGCA/GTGGTG 3 -- us2k10--------
    rs1837815841,2
    --42384023(+) CAGCAC/TTTTGG 3 -- us2k10--------
    rs26030431,2
    --42384194(-) cctctC/Tgggtt 3 -- us2k1 tfbs30--------
    rs1869219451,2
    --42384215(+) AGTGAG/TCCGAG 3 -- us2k10--------
    rs1508331381,2
    --42384237(+) CTGGAC/TGACAG 3 -- us2k10--------
    rs1481497831,2
    C,--42384261(+) TCAAA-/AACAACAA 3 -- us2k10--------
    rs1506771011,2
    C,--42384262(+) TCAAA-/AAC   
      AACAAC
    AACAA
    3 -- us2k10--------
    rs713719861,2
    C,--42384272(+) CAACAG/ACAACA 3 -- us2k12Minor allele frequency- A:0.25NA 4
    rs586843661,2
    C--42384290(+) AACAA-/CAAAATAA 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for RUNDC3A (42385781 - 42396039 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RUNDC3A: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RUNDC3A
    DNA2.0 Custom Variant and Variant Library Synthesis for RUNDC3A

    (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

    RUNDC3A for disorders           About GeneDecksing

    OMIM gene information: 605448    OMIM disorders: --

    5 diseases for RUNDC3A:    About MalaCards
    frontotemporal dementia    dementia    ataxia    malaria
    neuronitis

    1 disease from the University of Copenhagen DISEASES database for RUNDC3A:
    Frontotemporal dementia

    Export disorders for RUNDC3A 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 RUNDC3A gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with RUNDC3A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a specific effector of the small GTP-binding protein Rap2. (PubMed id 9523700)1, 2, 3, 9 Janoueix-Lerosey I....de Gunzburg J. (1998)
    2. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    3. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    4. 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)
    5. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (2006)
    6. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1 Yu W.... Gibbs R.A. (1997)

    (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: 10900 HGNC: 16984 AceView: RPIP8 Ensembl:ENSG00000108309 euGenes: HUgn10900
    ECgene: RUNDC3A H-InvDB: RUNDC3A

    (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 RUNDC3A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RUNDC3A gene:
    Search GeneIP for patents involving RUNDC3A

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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