This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation, and possibly in chromatin structur... See more...

Aliases for ARID3A Gene

Aliases for ARID3A Gene

  • AT-Rich Interaction Domain 3A 2 3 5
  • AT-Rich Interactive Domain-Containing Protein 3A 3 4
  • AT Rich Interactive Domain 3A (BRIGHT-Like) 2 3
  • B-Cell Regulator Of IgH Transcription 3 4
  • ARID Domain-Containing Protein 3A 3 4
  • Dead Ringer-Like Protein 1 3 4
  • E2F-Binding Protein 1 3 4
  • E2FBP1 3 4
  • DRIL1 3 4
  • DRIL3 3 4
  • AT Rich Interactive Domain 3A (BRIGHT- Like) Protein 3
  • AT Rich Interactive Domain 3A (BRIGHT- Like) 2
  • Dead Ringer-Like 1 (Drosophila) 2
  • ARID Domain-Containing 3A 3
  • Dead Ringer-Like 1 3
  • BRIGHT 3
  • Bright 4
  • DRX 4

External Ids for ARID3A Gene

Previous HGNC Symbols for ARID3A Gene

  • DRIL1

Previous GeneCards Identifiers for ARID3A Gene

  • GC19P000880
  • GC19P000877
  • GC19P000699

Summaries for ARID3A Gene

Entrez Gene Summary for ARID3A Gene

  • This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation, and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]

GeneCards Summary for ARID3A Gene

ARID3A (AT-Rich Interaction Domain 3A) is a Protein Coding gene. Diseases associated with ARID3A include Retinitis Pigmentosa 18 and Hypercholesterolemia, Familial, 4. Among its related pathways are Direct p53 effectors and Gene Expression. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is ARID3B.

UniProtKB/Swiss-Prot Summary for ARID3A Gene

  • Transcription factor which may be involved in the control of cell cycle progression by the RB1/E2F1 pathway and in B-cell differentiation.

Gene Wiki entry for ARID3A Gene

Additional gene information for ARID3A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARID3A Gene

Genomics for ARID3A Gene

GeneHancer (GH) Regulatory Elements for ARID3A Gene

Promoters and enhancers for ARID3A 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 ARID3A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARID3A

Top Transcription factor binding sites by QIAGEN in the ARID3A gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • p53

Genomic Locations for ARID3A Gene

Genomic Locations for ARID3A Gene
chr19:925,781-975,939
(GRCh38/hg38)
Size:
50,159 bases
Orientation:
Plus strand
chr19:925,781-975,939
(GRCh37/hg19)
Size:
50,159 bases
Orientation:
Plus strand

Genomic View for ARID3A Gene

Genes around ARID3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARID3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARID3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARID3A Gene

Proteins for ARID3A Gene

  • Protein details for ARID3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99856-ARI3A_HUMAN
    Recommended name:
    AT-rich interactive domain-containing protein 3A
    Protein Accession:
    Q99856
    Secondary Accessions:
    • Q5I858
    • Q6P9C6
    • Q8IZA7
    • Q8N4Z3

    Protein attributes for ARID3A Gene

    Size:
    593 amino acids
    Molecular mass:
    62889 Da
    Quaternary structure:
    • Homodimer. Heterodimer with ARID3B. Interacts with E2F1. Interacts with GTF2I and BTK.
    SequenceCaution:
    • Sequence=AAW30734.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARID3A Gene

neXtProt entry for ARID3A Gene

Post-translational modifications for ARID3A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARID3A Gene

No data available for DME Specific Peptides for ARID3A Gene

Domains & Families for ARID3A Gene

Gene Families for ARID3A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ARID3A Gene

Blocks:
  • ARID (AT-rich interaction domain) protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ARID3A Gene

GenScript: Design optimal peptide antigens:
  • E2F-binding protein 1 (ARI3A_HUMAN)
genes like me logo Genes that share domains with ARID3A: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARID3A Gene

Function for ARID3A Gene

Molecular function for ARID3A Gene

UniProtKB/Swiss-Prot Function:
Transcription factor which may be involved in the control of cell cycle progression by the RB1/E2F1 pathway and in B-cell differentiation.
UniProtKB/Swiss-Prot Induction:
By p53/TP53 following DNA damage.

Phenotypes From GWAS Catalog for ARID3A Gene

Gene Ontology (GO) - Molecular Function for ARID3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IBA,IEA 21873635
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA --
genes like me logo Genes that share ontologies with ARID3A: view
genes like me logo Genes that share phenotypes with ARID3A: view

Animal Models for ARID3A Gene

MGI Knock Outs for ARID3A:

miRNA for ARID3A Gene

miRTarBase miRNAs that target ARID3A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARID3A Gene

Localization for ARID3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARID3A Gene

Nucleus. Cytoplasm. Note=Shuttles between nucleus and cytoplasm.

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 ARID3A gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
golgi apparatus 2
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARID3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with ARID3A: view

Pathways & Interactions for ARID3A Gene

genes like me logo Genes that share pathways with ARID3A: view

Gene Ontology (GO) - Biological Process for ARID3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest TAS --
GO:0045944 positive regulation of transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with ARID3A: view

No data available for SIGNOR curated interactions for ARID3A Gene

Drugs & Compounds for ARID3A Gene

No Compound Related Data Available

Transcripts for ARID3A Gene

mRNA/cDNA for ARID3A Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARID3A Gene

No ASD Table

Relevant External Links for ARID3A Gene

GeneLoc Exon Structure for
ARID3A

Expression for ARID3A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARID3A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ARID3A Gene

This gene is overexpressed in Whole Blood (x9.8).

Protein differential expression in normal tissues from HIPED for ARID3A Gene

This gene is overexpressed in Fetal gut (28.0), Placenta (19.2), and Monocytes (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARID3A Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARID3A

SOURCE GeneReport for Unigene cluster for ARID3A Gene:

Hs.501296

mRNA Expression by UniProt/SwissProt for ARID3A Gene:

Q99856-ARI3A_HUMAN
Tissue specificity: Widely expressed, with highest expression in skeletal muscle, thalamus, and colon.
genes like me logo Genes that share expression patterns with ARID3A: view

No data available for Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARID3A Gene

Orthologs for ARID3A Gene

This gene was present in the common ancestor of animals.

Orthologs for ARID3A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARID3A 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARID3A 31 30
  • 84.58 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARID3A 31
  • 84 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ARID3A 31 30
  • 81.7 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Arid3a 17 31 30
  • 78.89 (n)
rat
(Rattus norvegicus)
Mammalia Arid3a 30
  • 78.16 (n)
oppossum
(Monodelphis domestica)
Mammalia ARID3A 31
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARID3A 31 30
  • 73.54 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arid3a 30
  • 68.3 (n)
Str.11240 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.26694 30
zebrafish
(Danio rerio)
Actinopterygii LOC562799 30
  • 71 (n)
ARID3A 31
  • 59 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta retn 31
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cfi-1 31
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6971 31
  • 38 (a)
OneToMany
Species where no ortholog for ARID3A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 ARID3A Gene

ENSEMBL:
Gene Tree for ARID3A (if available)
TreeFam:
Gene Tree for ARID3A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARID3A: view image

Paralogs for ARID3A Gene

Paralogs for ARID3A Gene

(3) SIMAP similar genes for ARID3A Gene using alignment to 2 proteins:

  • ARI3A_HUMAN
  • K7EJ04_HUMAN
genes like me logo Genes that share paralogs with ARID3A: view

Variants for ARID3A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARID3A Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
727639 Benign: not provided 971,936(+) C/T SYNONYMOUS_VARIANT
783810 Benign: not provided 929,763(+) G/A MISSENSE_VARIANT
784382 Benign: not provided 968,475(+) G/A SYNONYMOUS_VARIANT
785596 Benign: not provided 966,714(+) A/G SYNONYMOUS_VARIANT
788008 Benign: not provided 966,831(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ARID3A Gene

Structural Variations from Database of Genomic Variants (DGV) for ARID3A Gene

Variant ID Type Subtype PubMed ID
dgv134n111 CNV deletion 26073780
esv1501734 CNV deletion 17803354
esv2665746 CNV deletion 23128226
esv2673891 CNV deletion 23128226
esv2717811 CNV deletion 23290073
esv2717812 CNV deletion 23290073
esv2717813 CNV deletion 23290073
esv2758743 CNV gain+loss 17122850
esv3453 CNV loss 18987735
esv3643377 CNV loss 21293372
esv3643378 CNV loss 21293372
esv3643379 CNV gain 21293372
nsv1072834 CNV deletion 25765185
nsv1072835 CNV deletion 25765185
nsv1127642 CNV deletion 24896259
nsv1160555 CNV deletion 26073780
nsv469845 CNV loss 16826518
nsv470101 CNV loss 18288195
nsv578188 CNV loss 21841781
nsv833704 CNV gain 17160897
nsv953938 CNV deletion 24416366
nsv9662 CNV gain 18304495

Variation tolerance for ARID3A Gene

Residual Variation Intolerance Score: 29.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.28; 40.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARID3A Gene

Human Gene Mutation Database (HGMD)
ARID3A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARID3A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARID3A Gene

Disorders for ARID3A Gene

MalaCards: The human disease database

(4) MalaCards diseases for ARID3A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 18
  • rp18
hypercholesterolemia, familial, 4
  • fhcl4
brain cancer
  • adult brain tumor
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ARID3A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ARID3A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARID3A Gene

Publications for ARID3A Gene

  1. The human dead ringer/bright homolog, DRIL1: cDNA cloning, gene structure, and mapping to D19S886, a marker on 19p13.3 that is strictly linked to the Peutz-Jeghers syndrome. (PMID: 9722953) Kortschak RD … Jenne DE (Genomics 1998) 2 3 4 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. A genome-wide association study of optic disc parameters. (PMID: 20548946) Ramdas WD … van Duijn CM (PLoS genetics 2010) 3 41 54
  4. Solution NMR structure of the ARID domain of human AT-rich interactive domain-containing protein 3A: a human cancer protein interaction network target. (PMID: 20455271) Liu G … Montelione GT (Proteins 2010) 3 4 54
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54

Products for ARID3A Gene