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

Gene ID: 146923, updated on 2-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
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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 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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Related articles in PubMed

  1. Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium. Jalali A, et al. Sci Rep, 2015 Feb 5. PMID 25652157, Free PMC Article
  2. Gene expression analysis on a photodiode array-based bioluminescence analyzer by using sensitivity-improved SRPP. Song Q, et al. Analyst, 2010 Jun. PMID 20498880
  3. A high-throughput loss-of-function screening identifies novel p53 regulators. Llanos S, et al. Cell Cycle, 2006 Aug. PMID 16929179
  4. 14-3-3ζ negatively regulates mitochondrial biogenesis in GBM residual cells. Rajendra J, et al. Heliyon, 2021 Nov. PMID 34825085, Free PMC Article
  5. Proteome-scale mapping of binding sites in the unstructured regions of the human proteome. Benz C, et al. Mol Syst Biol, 2022 Jan. PMID 35044719, Free PMC Article

See all (16) citations in PubMed

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)

Genotypes

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

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