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

Gene ID: 146923, updated on 15-Sep-2022

Summary

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

See RUNDC1 in Genome Data Viewer
Location:
17q21.31
Exon count:
6
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42980565..42995142)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43837837..43852418)
105.20220307 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 prostaglandin E synthase 3 like Neighboring gene uncharacterized LOC124904006 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
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_001321381.3NP_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_001394222.1NP_001381151.1  RUN domain-containing protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC055866
    Conserved Domains (2) summary
    TIGR04523
    Location:169278
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    pfam02759
    Location:430581
    RUN; RUN domain
  3. 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
    UniProtKB/Swiss-Prot
    Q8N3W1
    Related
    ENSP00000354622.1, ENST00000361677.6
    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 110 details...Open this link in a new tab

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_005257078.5XP_005257135.1  RUN domain-containing protein 1 isoform X1

    Conserved Domains (1) summary
    pfam02759
    Location:432583
    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)