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] See more...

Aliases for RUNDC1 Gene

Aliases for RUNDC1 Gene

  • RUN Domain Containing 1 2 3 5
  • RUN Domain-Containing Protein 1 3 4
  • DKFZp761H0421 2
  • RUNDC1 5

External Ids for RUNDC1 Gene

Previous GeneCards Identifiers for RUNDC1 Gene

  • GC17P041506
  • GC17P038386
  • GC17P041132
  • GC17P036898
  • GC17P042981
  • GC17P043060
  • GC17P043708
  • GC17P043792
  • GC17P043729
  • GC17P043870
  • GC17P043142
  • GC17P043146
  • GC17P043180
  • GC17P043256
  • GC17P043318
  • GC17P043413
  • GC17P043490
  • GC17P043556

Summaries for RUNDC1 Gene

Entrez Gene Summary for RUNDC1 Gene

  • 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]

GeneCards Summary for RUNDC1 Gene

RUNDC1 (RUN Domain Containing 1) is a Protein Coding gene.

UniProtKB/Swiss-Prot Summary for RUNDC1 Gene

  • May play a role as p53/TP53 inhibitor and thus may have oncogenic activity.

Additional gene information for RUNDC1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RUNDC1 Gene

Genomics for RUNDC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RUNDC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RUNDC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RUNDC1

Top Transcription factor binding sites by QIAGEN in the RUNDC1 gene promoter:
  • AML1a
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • C/EBPalpha
  • FOXC1
  • Ik-3
  • Zic3

Genomic Locations for RUNDC1 Gene

Genomic Locations for RUNDC1 Gene
chr17:42,980,516-42,995,142
(GRCh38/hg38)
Size:
14,627 bases
Orientation:
Plus strand
chr17:41,132,582-41,145,707
(GRCh37/hg19)
Size:
13,126 bases
Orientation:
Plus strand

Genomic View for RUNDC1 Gene

Genes around RUNDC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RUNDC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RUNDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RUNDC1 Gene

Proteins for RUNDC1 Gene

  • Protein details for RUNDC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96C34-RUND1_HUMAN
    Recommended name:
    RUN domain-containing protein 1
    Protein Accession:
    Q96C34
    Secondary Accessions:
    • Q6Y2K8
    • Q8IXT9
    • Q8N3W1

    Protein attributes for RUNDC1 Gene

    Size:
    613 amino acids
    Molecular mass:
    67643 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH14873.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAO86728.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for RUNDC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RUNDC1 Gene

Post-translational modifications for RUNDC1 Gene

  • Ubiquitination at Lys383 and Lys495
  • Modification sites at PhosphoSitePlus

Other Protein References for RUNDC1 Gene

No data available for DME Specific Peptides for RUNDC1 Gene

Domains & Families for RUNDC1 Gene

Gene Families for RUNDC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RUNDC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RUNDC1 Gene

GenScript: Design optimal peptide antigens:
  • RUN domain-containing protein 1 (RUND1_HUMAN)
genes like me logo Genes that share domains with RUNDC1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RUNDC1 Gene

Function for RUNDC1 Gene

Molecular function for RUNDC1 Gene

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

Phenotypes From GWAS Catalog for RUNDC1 Gene

Gene Ontology (GO) - Molecular Function for RUNDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA 21873635
GO:0017137 Rab GTPase binding IBA 21873635
genes like me logo Genes that share ontologies with RUNDC1: view
genes like me logo Genes that share phenotypes with RUNDC1: view

Animal Models for RUNDC1 Gene

MGI Knock Outs for RUNDC1:
  • Rundc1 Rundc1<tm1b(EUCOMM)Wtsi>
  • Rundc1 Rundc1<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for RUNDC1 Gene

miRTarBase miRNAs that target RUNDC1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RUNDC1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RUNDC1 Gene

Localization for RUNDC1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RUNDC1 gene
Compartment Confidence
nucleus 2
cytosol 2
mitochondrion 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear speckles (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for RUNDC1 Gene

Pathways & Interactions for RUNDC1 Gene

PathCards logo

SuperPathways for RUNDC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RUNDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0006886 intracellular protein transport IBA 21873635
GO:0090630 activation of GTPase activity IBA 21873635
genes like me logo Genes that share ontologies with RUNDC1: view

No data available for Pathways by source and SIGNOR curated interactions for RUNDC1 Gene

Drugs & Compounds for RUNDC1 Gene

No Compound Related Data Available

Transcripts for RUNDC1 Gene

mRNA/cDNA for RUNDC1 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RUNDC1

Alternative Splicing Database (ASD) splice patterns (SP) for RUNDC1 Gene

No ASD Table

Relevant External Links for RUNDC1 Gene

GeneLoc Exon Structure for
RUNDC1

Expression for RUNDC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RUNDC1 Gene

Protein differential expression in normal tissues from HIPED for RUNDC1 Gene

This gene is overexpressed in Monocytes (56.8) and Islet of Langerhans (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RUNDC1 Gene



Protein tissue co-expression partners for RUNDC1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RUNDC1

SOURCE GeneReport for Unigene cluster for RUNDC1 Gene:

Hs.632255

Evidence on tissue expression from TISSUES for RUNDC1 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with RUNDC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RUNDC1 Gene

Orthologs for RUNDC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RUNDC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RUNDC1 30 31
  • 99.73 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RUNDC1 30 31
  • 90.76 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RUNDC1 30 31
  • 89.42 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rundc1 30 17 31
  • 87.35 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rundc1 30
  • 86.86 (n)
Oppossum
(Monodelphis domestica)
Mammalia RUNDC1 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RUNDC1 31
  • 75 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RUNDC1 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rundc1 30
  • 68.95 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2440 30
Zebrafish
(Danio rerio)
Actinopterygii LOC100537899 30
  • 67.28 (n)
RUNDC1 31
  • 63 (a)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12801 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG3703 30 31
  • 48.97 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004080 30
  • 47.9 (n)
Worm
(Caenorhabditis elegans)
Secernentea T19D7.4 31
  • 25 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2174 31
  • 29 (a)
OneToOne
Species where no ortholog for RUNDC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RUNDC1 Gene

ENSEMBL:
Gene Tree for RUNDC1 (if available)
TreeFam:
Gene Tree for RUNDC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RUNDC1: view image

Paralogs for RUNDC1 Gene

Pseudogenes.org Pseudogenes for RUNDC1 Gene

genes like me logo Genes that share paralogs with RUNDC1: view

No data available for Paralogs for RUNDC1 Gene

Variants for RUNDC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RUNDC1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs864622034 Uncertain Significance: Malignant tumor of prostate 42,990,326(+) G/C MISSENSE_VARIANT
rs1708875 - p.Trp160Arg
rs17853899 - p.Val4Ile
rs17857183 - p.Leu397Met
rs3744241 - p.Glu566Lys

Additional dbSNP identifiers (rs#s) for RUNDC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RUNDC1 Gene

Variant ID Type Subtype PubMed ID
esv2672913 CNV deletion 23128226
esv33998 OTHER inversion 15654335
nsv1146669 OTHER inversion 26484159
nsv457742 CNV loss 19166990
nsv483009 CNV gain 15286789
nsv575052 CNV loss 21841781

Variation tolerance for RUNDC1 Gene

Residual Variation Intolerance Score: 81.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.58; 56.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RUNDC1 Gene

Human Gene Mutation Database (HGMD)
RUNDC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RUNDC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RUNDC1 Gene

Disorders for RUNDC1 Gene

No disorders were found for RUNDC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RUNDC1 Gene

Publications for RUNDC1 Gene

  1. A high-throughput loss-of-function screening identifies novel p53 regulators. (PMID: 16929179) Llanos S … Serrano M (Cell cycle (Georgetown, Tex.) 2006) 2 3 4
  2. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3
  5. Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium. (PMID: 25652157) Jalali A … Bondy ML (Scientific reports 2015) 3

Products for RUNDC1 Gene

Sources for RUNDC1 Gene