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

    Gene ID: 146923, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RUNDC1provided by HGNC
    Official Full Name
    RUN domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25418
    See related
    Ensembl:ENSG00000198863 MIM:619250; AllianceGenome:HGNC:25418
    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
    Also known as
    RUND1
    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
    mouse all
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    Genomic context

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    See RUNDC1 in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42980565..42995142)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43837837..43852418)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41132582..41147159)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene PTGES3L-AARSD1 readthrough Neighboring gene alanyl-tRNA synthetase domain containing 1 Neighboring gene MPRA-validated peak2851 silencer Neighboring gene prostaglandin E synthase 3 like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41124646-41125212 Neighboring gene MPRA-validated peak2852 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12229 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8549 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41142673-41143174 Neighboring gene uncharacterized LOC124904006 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:41149993-41151192 Neighboring gene ribosomal protein L27 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12233 Neighboring gene interferon induced protein 35

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp761H0421

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    RUN domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

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    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_054922.2 RefSeqGene

      Range
      5002..19579
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001321381.3 → NP_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:431 → 582
      RUN; RUN domain
      cl25732
      Location:161 → 288
      SMC_N; RecF/RecN/SMC N terminal domain

    2. NM_001394222.1 → NP_001381151.1  RUN domain-containing protein 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC055866
      Conserved Domains (2) summary
      TIGR04523
      Location:169 → 278
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      pfam02759
      Location:430 → 581
      RUN; RUN domain

    3. NM_173079.5 → NP_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
      UniProtKB/Swiss-Prot
      Q6Y2K8, Q8IXT9, Q8N3W1, Q96C34
      Related
      ENSP00000354622.1, ENST00000361677.6
      Conserved Domains (2) summary
      pfam02759
      Location:429 → 580
      RUN; RUN domain
      cl25732
      Location:169 → 286
      SMC_N; RecF/RecN/SMC N terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      42980565..42995142
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257078.5 → XP_005257135.1  RUN domain-containing protein 1 isoform X1

      Conserved Domains (1) summary
      pfam02759
      Location:432 → 583
      RUN; RUN domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      43837837..43852418
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315222.1 → XP_054171197.1  RUN domain-containing protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96C34.3 GenPept UniProtKB/Swiss-Prot:Q96C34

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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