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    RUNDC1 RUN domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 146923, updated on 17-Jun-2019

    Summary

    Official Symbol
    RUNDC1provided by HGNC
    Official Full Name
    RUN domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25418
    See related
    Ensembl:ENSG00000198863
    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
    Summary
    This gene encodes a protein that contains a RUN (RPIP8, UNC-14 and NESCA) domain and a coiled coil domain. The encoded protein may negatively regulate p53 transcriptional activity. This gene is a potential candidate gene for predisposition to glioma in humans. [provided by RefSeq, May 2017]
    Expression
    Ubiquitous expression in brain (RPKM 7.5), thyroid (RPKM 6.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See RUNDC1 in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (42980516..42995142)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41132527..41145713)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RNY4 pseudogene 2 Neighboring gene PTGES3L-AARSD1 readthrough Neighboring gene alanyl-tRNA synthetase domain containing 1 Neighboring gene prostaglandin E synthase 3 like Neighboring gene ribosomal protein L27 Neighboring gene interferon induced protein 35

    Genomic regions, transcripts, and products

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp761H0421

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Rab GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    activation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    cell IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    RUN domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

    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_054922.1 RefSeqGene

      Range
      5053..19634
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001321381.3NP_001308310.2  RUN domain-containing protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).
      Source sequence(s)
      AC055866
      Conserved Domains (2) summary
      pfam02759
      Location:431582
      RUN; RUN domain
      cl25732
      Location:161288
      SMC_N; RecF/RecN/SMC N terminal domain
    2. NM_173079.5NP_775102.3  RUN domain-containing protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon in the 5' coding region compared to variant 2. The encoded isoform (1) is shorter than isoform 2.
      Source sequence(s)
      AC055866
      Consensus CDS
      CCDS11448.1
      Related
      ENSP00000354622.1, ENST00000361677.5
      Conserved Domains (2) summary
      pfam02759
      Location:429580
      RUN; RUN domain
      cl25732
      Location:169286
      SMC_N; RecF/RecN/SMC N terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      42980516..42995142
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257078.4XP_005257135.1  RUN domain-containing protein 1 isoform X1

      Conserved Domains (1) summary
      pfam02759
      Location:432583
      RUN; RUN domain
    2. XM_005257080.4XP_005257137.1  RUN domain-containing protein 1 isoform X2

      Conserved Domains (1) summary
      pfam02759
      Location:430581
      RUN; RUN domain
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