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RUNDC1 Gene

protein-coding   GIFtS: 43
GCID: GC17P041132

RUN Domain Containing 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
RUN Domain Containing 11 2
RUN Domain-Containing Protein 12

External Ids:    HGNC: 254181   Entrez Gene: 1469232   Ensembl: ENSG000001988637   UniProtKB: Q96C343   

Export aliases for RUNDC1 gene to outside databases

Previous GC identifers: GC17P041506 GC17P038386 GC17P036898


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RUNDC1 Gene:
RUNDC1 (RUN domain containing 1) is a protein-coding gene.

UniProtKB/Swiss-Prot: RUND1_HUMAN, Q96C34
Function: May play a role as p53/TP53 inhibitor and thus may have oncogenic activity




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RUNDC1 gene promoter:
         AML1a   Ik-3   AP-2gamma   C/EBPalpha   FOXC1   AP-2beta   AP-2alpha   Zic3   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRUNDC1 promoter sequence
   Search Chromatin IP Primers for RUNDC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RUNDC1


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

RUNDC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RUNDC1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P041132:  view genomic region     (about GC identifiers)

Start:
41,132,582 bp from pter      End:
41,145,707 bp from pter
Size:
13,126 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RUND1_HUMAN, Q96C34 (See protein sequence)
Recommended Name: RUN domain-containing protein 1  
Size: 613 amino acids; 67643 Da
Sequence caution: Sequence=AAH14873.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAO86728.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q6Y2K8 Q8IXT9 Q8N3W1
Alternative splicing: 2 isoforms:  Q96C34-1   Q96C34-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RUNDC1: NX_Q96C34

Explore proteomics data for RUNDC1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys383, Lys495
  • Modification sites at PhosphoSitePlus

  • See RUNDC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_775102.2  
    ENSEMBL proteins: 
     ENSP00000354622   ENSP00000467953  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR004012 Run

    Graphical View of Domain Structure for InterPro Entry Q96C34

    ProtoNet protein and cluster: Q96C34

    UniProtKB/Swiss-Prot: RUND1_HUMAN, Q96C34
    Similarity: Contains 1 RUN domain


    Find genes that share domains with RUNDC1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RUND1_HUMAN, Q96C34
    Function: May play a role as p53/TP53 inhibitor and thus may have oncogenic activity

    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rundc1):

     cardiovascular system  mortality/aging  pigmentation  vision/eye 

    Find genes that share phenotypes with RUNDC1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for RUNDC1

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate RUNDC1 (see all 18):
    hsa-miR-106a hsa-miR-519a hsa-miR-371-5p hsa-miR-3692 hsa-miR-633 hsa-miR-93 hsa-miR-3662 hsa-miR-520g
    SwitchGear 3'UTR luciferase reporter plasmidRUNDC1 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    mitochondrion1

    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RUNDC1
    Interactions:

        Search GeneGlobe Interaction Network for RUNDC1

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RUNDC1 (RUND1)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RUNDC1 gene: 
    NM_173079.2  

    Unigene Cluster for RUNDC1:

    RUN domain containing 1
    Hs.632255  [show with all ESTs]
    Unigene Representative Sequence: BC039247
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000590836 ENST00000361677(uc002ici.1) ENST00000589705
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    hsa-miR-106a hsa-miR-519a hsa-miR-371-5p hsa-miR-3692 hsa-miR-633 hsa-miR-93 hsa-miR-3662 hsa-miR-520g
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    Inhib. RNA
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    Primer
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    OriGene qPCR primer pairs and template standards for RUNDC1
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      QuantiTect SYBR Green Assays in human, mouse, rat RUNDC1
      QuantiFast Probe-based Assays in human, mouse, rat RUNDC1

    Additional mRNA sequence: 

    AK055627.1 AK303115.1 AK310125.1 AL831813.1 AY189284.1 BC014873.1 BC039247.1 

    1 DOTS entry:

    DT.311916 

    Selected AceView cDNA sequences (see all 127):

    AA234973 AA319233 BG253475 BF063975 BQ672941 BG289440 BQ674809 BU857624 
    BE768515 N47109 BU189319 BG032943 BE903548 BE383609 AI141257 BM838012 
    BE903724 BC039247 CK000325 AI400460 AI351507 AA442729 BM692758 AL831813 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RUNDC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTACTTATTT
    RUNDC1 Expression
    About this image

    RUNDC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RUNDC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632255
        Custom PCR Arrays for RUNDC1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RUNDC1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for RUNDC1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rundc11 , 5 RUN domain containing 11, 5 87.35(n)1
    90.35(a)1
      11 (65.00 cM)5
    2172011  NM_172566.41  NP_766154.21 
     1014250855 
    chicken
    (Gallus gallus)
    Aves RUNDC16
    RUN domain containing 1
    75(a)
    1 ↔ 1
    27(5095037-5098091)
    lizard
    (Anolis carolinensis)
    Reptilia RUNDC16
    RUN domain containing 1
    72(a)
    1 ↔ 1
    6(62484213-62495523)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.24402 Xenopus laevis transcribed sequence 76.87(n)    48026289 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005378991 RUN domain-containing protein 1-like 67.28(n)
    68.39(a)
      100537899  XM_005163963.1  XP_005164020.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG37031 CG3703 48.97(n)
    40.96(a)
      31045  NM_130518.2  NP_569874.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T19D7.46
    Protein T19D7.4 (T19D7.4) mRNA, complete cds
    25(a)
    1 ↔ 1
    X(658521-661777) WBGene00020572


    ENSEMBL Gene Tree for RUNDC1 (if available)
    TreeFam Gene Tree for RUNDC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RUNDC1 gene

    Find genes that share paralogs with RUNDC1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for RUNDC1
    PGOHUM00000235813


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RUNDC1 (see all 359)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs6914261,2
    C--36896318(+) CATGAC/TGGGTT 1 -- us2k15Minor allele frequency- T:0.15NA WA EA 362
    rs1508544751,2
    --36896319(+) ATGACA/GGGTTG 1 -- us2k10--------
    rs5350411,2
    C,A--36896397(-) aagttA/Ctggga 1 -- us2k19Minor allele frequency- C:0.14NA WA CSA 250
    rs1897694361,2
    --36896561(+) GGCGTA/GGTGGT 1 -- us2k10--------
    rs1810998651,2
    --36896618(+) GCTTGA/CACCCG 1 -- us2k10--------
    rs65037231,2
    C,H--36896685(+) aagagC/Tgaaac 1 -- us2k18Minor allele frequency- T:0.06NA WA CSA 18
    rs1843948431,2
    --36896740(+) AATACA/TGTTGG 1 -- us2k10--------
    rs98899101,2
    C,F,A,H--36896856(+) ACTTTC/TCACAC 1 -- us2k121Minor allele frequency- T:0.08NS EA NA WA CSA 1832
    rs2018129971,2
    --36896890(+) TAAGCC/TGCGGC 1 -- us2k10--------
    rs1448755011,2
    C--36896893(+) GCCGCG/AGCCAG 1 -- us2k11Minor allele frequency- A:0.00NA 4552

    HapMap Linkage Disequilibrium report for RUNDC1 (41132582 - 41145707 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for RUNDC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672913CNV Deletion23128226
    nsv457742CNV Loss19166990
    nsv908258CNV Loss21882294
    nsv483009CNV Gain15286789
    esv33998OTHER Inversion15654335

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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      --

    (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)
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    PubMed articles for RUNDC1 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with RUNDC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    2. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (J. Cell. Sci. 2012)
    3. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    4. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    5. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    6. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    8. A germline-specific class of small RNAs binds mammalian Piwi proteins. (PubMed id 16751776)1 Girard A....Carmell M.A. (Nature 2006)
    9. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 2006)
    10. A high-throughput loss-of-function screening identifies novel p53 regulators. (PubMed id 16929179)2 Llanos S.... Serrano M. (Cell Cycle 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 146923 HGNC: 25418 AceView: RUNDC1 Ensembl:ENSG00000198863 euGenes: HUgn146923
    ECgene: RUNDC1 H-InvDB: RUNDC1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RUNDC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RUNDC1 gene:
    Search GeneIP for patents involving RUNDC1

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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     Block miRNA regulation of human, mouse, rat RUNDC1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing RUNDC1
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     Custom PCR Arrays for RUNDC1 Search Chromatin IP Primers for RUNDC1
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     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
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     antibodies-online antibodies for RUNDC1 (8 products)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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