The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent ... See more...

Aliases for ARID4A Gene

Aliases for ARID4A Gene

  • AT-Rich Interaction Domain 4A 2 3 5
  • Retinoblastoma-Binding Protein 1 2 3 4
  • AT-Rich Interactive Domain-Containing Protein 4A 3 4
  • AT Rich Interactive Domain 4A (RBP1-Like) 2 3
  • ARID Domain-Containing Protein 4A 3 4
  • RBBP-1 3 4
  • RBBP1 3 4
  • RBP1 3 4
  • RBP-1 3

External Ids for ARID4A Gene

Previous HGNC Symbols for ARID4A Gene

  • RBBP1

Previous GeneCards Identifiers for ARID4A Gene

  • GC14P056756
  • GC14P056757
  • GC14P057835
  • GC14P058766
  • GC14P038930

Summaries for ARID4A Gene

Entrez Gene Summary for ARID4A Gene

  • The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008]

GeneCards Summary for ARID4A Gene

ARID4A (AT-Rich Interaction Domain 4A) is a Protein Coding gene. Diseases associated with ARID4A include Retinoblastoma. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Chromatin organization. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is ARID4B.

UniProtKB/Swiss-Prot Summary for ARID4A Gene

  • DNA-binding protein which modulates activity of several transcription factors including RB1 (retinoblastoma-associated protein) and AR (androgen receptor) (By similarity). May function as part of an mSin3A repressor complex (PubMed:14581478). Has no intrinsic transcriptional activity (By similarity). Plays a role in the regulation of epigenetic modifications at the PWS/AS imprinting center near the SNRPN promoter, where it might function as part of a complex with RB1 and ARID4B (By similarity). Involved in spermatogenesis, together with ARID4B, where it acts as a transcriptional coactivator for AR and enhances expression of genes required for sperm maturation. Regulates expression of the tight junction protein CLDN3 in the testis, which is important for integrity of the blood-testis barrier (By similarity). Plays a role in myeloid homeostasis where it regulates the histone methylation state of bone marrow cells and expression of various genes involved in hematopoiesis. May function as a leukemia suppressor (By similarity).

Gene Wiki entry for ARID4A Gene

Additional gene information for ARID4A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARID4A Gene

Genomics for ARID4A Gene

GeneHancer (GH) Regulatory Elements for ARID4A Gene

Promoters and enhancers for ARID4A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J058296 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 507.2 +0.0 16 5.6 FOXK2 ZBTB40 ZNF217 EP300 TCF12 SIN3A NRF1 POLR2G SP1 GTF2E2 PSMA3-AS1 ARID4A ARMH4 ENSG00000258682 TIMM9 TOMM20L KIAA0586 ACTR10 lnc-ARID4A-2
GH14J058329 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 510.5 +33.0 33009 2.8 EP300 SIN3A ZNF300 RFX1 MYC MXI1 NFIC ZBTB17 ZNF384 BMI1 ARID4A PSMA3-AS1 TOMM20L ENSG00000258682 RNU6-341P HSALNG0101626
GH14J058344 Promoter 0.3 EPDnew 500.3 +46.3 46321 0.1 ARID4A TOMM20L HSALNG0101626 PSMA3-AS1
GH14J058242 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.6 -53.2 -53180 4.8 ZNF217 TCF12 SIN3A MYC NRF1 POLR2G SP1 GTF2E2 PHF8 FOS PSMA3 PSMA3-AS1 RNU6-341P ARID4A ARMH4 KIAA0586 HMGB1P14 ENSG00000258682
GH14J058238 Promoter/Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 12.8 -59.0 -59017 2.7 ZBTB40 NCOR1 GTF2E2 FOS TEAD4 ZNF639 ZBTB5 REST POLR2A NR3C1 TRK-CTT1-1 ARID4A DACT1 KIAA0586 ENSG00000258682 PSMA3-AS1 ARMH4 NONHSAG015102.2-002
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARID4A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARID4A

Top Transcription factor binding sites by QIAGEN in the ARID4A gene promoter:
  • Sp1
  • USF1

Genomic Locations for ARID4A Gene

Genomic Locations for ARID4A Gene
chr14:58,298,385-58,373,995
(GRCh38/hg38)
Size:
75,611 bases
Orientation:
Plus strand
chr14:58,765,103-58,840,605
(GRCh37/hg19)
Size:
75,503 bases
Orientation:
Plus strand

Genomic View for ARID4A Gene

Genes around ARID4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARID4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARID4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARID4A Gene

Proteins for ARID4A Gene

  • Protein details for ARID4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29374-ARI4A_HUMAN
    Recommended name:
    AT-rich interactive domain-containing protein 4A
    Protein Accession:
    P29374
    Secondary Accessions:
    • Q15991
    • Q15992
    • Q15993

    Protein attributes for ARID4A Gene

    Size:
    1257 amino acids
    Molecular mass:
    142752 Da
    Quaternary structure:
    • Identified in mSin3A corepressor complexes together with SIN3A, SIN3B, RBBP4, RBBP7, SAP30, BRMS1, HDAC1 and HDAC2 (PubMed:14581478). Interacts with BRMS1 (PubMed:14581478). Interacts with RB1 (PubMed:8414517, PubMed:8455946). Interacts with ARID4B (PubMed:17043311). Interacts with AR (PubMed:23487765).

    Three dimensional structures from OCA and Proteopedia for ARID4A Gene

    Alternative splice isoforms for ARID4A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARID4A Gene

Post-translational modifications for ARID4A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ARID4A Gene

Domains & Families for ARID4A Gene

Gene Families for ARID4A Gene

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

Protein Domains for ARID4A Gene

Blocks:
  • Tudor domain
  • ARID (AT-rich interaction domain) protein
  • Chromo domain
  • RBB1NT
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ARID4A Gene

GenScript: Design optimal peptide antigens:
  • Retinoblastoma-binding protein 1 (ARI4A_HUMAN)
  • ARID4A protein (Q05CG0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P29374

UniProtKB/Swiss-Prot:

ARI4A_HUMAN :
  • The function of the chromodomain-like region is uncertain (PubMed:22247551, PubMed:29408527). One study suggests that it mediates binding to lysine-methylated histone tails, with strongest affinity for H4K20me3 and H3K36me3 (PubMed:22247551). However, another study failed to find any interaction between this domain and histone H4K20me3 peptide (PubMed:29408527).
Domain:
  • The function of the chromodomain-like region is uncertain (PubMed:22247551, PubMed:29408527). One study suggests that it mediates binding to lysine-methylated histone tails, with strongest affinity for H4K20me3 and H3K36me3 (PubMed:22247551). However, another study failed to find any interaction between this domain and histone H4K20me3 peptide (PubMed:29408527).
genes like me logo Genes that share domains with ARID4A: view

Function for ARID4A Gene

Molecular function for ARID4A Gene

UniProtKB/Swiss-Prot Function:
DNA-binding protein which modulates activity of several transcription factors including RB1 (retinoblastoma-associated protein) and AR (androgen receptor) (By similarity). May function as part of an mSin3A repressor complex (PubMed:14581478). Has no intrinsic transcriptional activity (By similarity). Plays a role in the regulation of epigenetic modifications at the PWS/AS imprinting center near the SNRPN promoter, where it might function as part of a complex with RB1 and ARID4B (By similarity). Involved in spermatogenesis, together with ARID4B, where it acts as a transcriptional coactivator for AR and enhances expression of genes required for sperm maturation. Regulates expression of the tight junction protein CLDN3 in the testis, which is important for integrity of the blood-testis barrier (By similarity). Plays a role in myeloid homeostasis where it regulates the histone methylation state of bone marrow cells and expression of various genes involved in hematopoiesis. May function as a leukemia suppressor (By similarity).

Phenotypes From GWAS Catalog for ARID4A Gene

Gene Ontology (GO) - Molecular Function for ARID4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA 15640446
GO:0044212 transcription regulatory region DNA binding IBA 21873635
genes like me logo Genes that share ontologies with ARID4A: view
genes like me logo Genes that share phenotypes with ARID4A: view

Animal Models for ARID4A Gene

MGI Knock Outs for ARID4A:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARID4A Gene

Localization for ARID4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARID4A 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 ARID4A gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 4
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARID4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
GO:0017053 transcriptional repressor complex IDA 11283269
genes like me logo Genes that share ontologies with ARID4A: view

Pathways & Interactions for ARID4A Gene

genes like me logo Genes that share pathways with ARID4A: view

Pathways by source for ARID4A Gene

1 GeneGo (Thomson Reuters) pathway for ARID4A Gene
  • Transcription Sin3 and NuRD in transcription regulation

SIGNOR curated interactions for ARID4A Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ARID4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0006349 regulation of gene expression by genetic imprinting IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with ARID4A: view

Drugs & Compounds for ARID4A Gene

(1) Drugs for ARID4A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ARID4A: view

Transcripts for ARID4A Gene

mRNA/cDNA for ARID4A Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARID4A Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20
SP1: -
SP2: - -
SP3:
SP4:
SP5:
SP6: - -
SP7: -
SP8: -
SP9:

Relevant External Links for ARID4A Gene

GeneLoc Exon Structure for
ARID4A

Expression for ARID4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARID4A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARID4A Gene

This gene is overexpressed in Adrenal (23.4), Peripheral blood mononuclear cells (10.3), CD8 Tcells (9.3), and Blymphocyte (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARID4A Gene



Protein tissue co-expression partners for ARID4A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARID4A

SOURCE GeneReport for Unigene cluster for ARID4A Gene:

Hs.161000

Evidence on tissue expression from TISSUES for ARID4A Gene

  • Liver(4.2)
genes like me logo Genes that share expression patterns with ARID4A: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARID4A Gene

Orthologs for ARID4A Gene

This gene was present in the common ancestor of animals.

Orthologs for ARID4A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARID4A 31 30
  • 99.81 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ARID4A 31 30
  • 93.44 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ARID4A 31 30
  • 92.87 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Arid4a 17 31 30
  • 84.99 (n)
rat
(Rattus norvegicus)
Mammalia Arid4a 30
  • 82.61 (n)
oppossum
(Monodelphis domestica)
Mammalia ARID4A 31
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARID4A 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARID4A 31 30
  • 78.7 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARID4A 31
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arid4a 30
  • 68.01 (n)
Str.10513 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.32170 30
zebrafish
(Danio rerio)
Actinopterygii arid4a 31
  • 52 (a)
OneToOne
wufi14h03 30
worm
(Caenorhabditis elegans)
Secernentea arid-1 31
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 46 (a)
OneToMany
Cin.6900 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6900 30
Species where no ortholog for ARID4A 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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 ARID4A Gene

ENSEMBL:
Gene Tree for ARID4A (if available)
TreeFam:
Gene Tree for ARID4A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARID4A: view image

Paralogs for ARID4A Gene

Paralogs for ARID4A Gene

(1) SIMAP similar genes for ARID4A Gene using alignment to 6 proteins:

  • ARI4A_HUMAN
  • C9J1W3_HUMAN
  • C9JIF4_HUMAN
  • F8WAR5_HUMAN
  • H7C485_HUMAN
  • Q05CG0_HUMAN
genes like me logo Genes that share paralogs with ARID4A: view

Variants for ARID4A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARID4A Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs62621193 Uncertain Significance: not provided 58,365,301(+) G/A SPLICE_DONOR_VARIANT
rs1051858 - p.Thr779Ala
rs2230098 - p.Asn724Ser
rs34982206 - p.His412Pro

Additional dbSNP identifiers (rs#s) for ARID4A Gene

Structural Variations from Database of Genomic Variants (DGV) for ARID4A Gene

Variant ID Type Subtype PubMed ID
esv26881 CNV loss 19812545

Variation tolerance for ARID4A Gene

Residual Variation Intolerance Score: 10.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.44; 54.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARID4A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARID4A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARID4A Gene

Disorders for ARID4A Gene

MalaCards: The human disease database

(1) MalaCards diseases for ARID4A Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinoblastoma
  • rb1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ARID4A

genes like me logo Genes that share disorders with ARID4A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARID4A Gene

Publications for ARID4A Gene

  1. Alternative splicing of the RBP1 gene clusters in an internal exon that encodes potential phosphorylation sites. (PMID: 8455946) Otterson GA … Kaye FJ (Oncogene 1993) 2 3 4 23 54
  2. Cloning of cDNAs for cellular proteins that bind to the retinoblastoma gene product. (PMID: 1857421) Defeo-Jones D … Oliff A (Nature 1991) 2 3 4 23 54
  3. Breast cancer metastasis suppressor 1 (BRMS1) forms complexes with retinoblastoma-binding protein 1 (RBP1) and the mSin3 histone deacetylase complex and represses transcription. (PMID: 14581478) Meehan WJ … Welch DR (The Journal of biological chemistry 2004) 3 4 23 54
  4. Characterization of the retinoblastoma binding proteins RBP1 and RBP2. (PMID: 8414517) Fattaey AR … Defeo-Jones D (Oncogene 1993) 3 4 23 54
  5. Crystal structure of chromo barrel domain of RBBP1. (PMID: 29408527) Lei M … Liu Y (Biochemical and biophysical research communications 2018) 3 4 54

Products for ARID4A Gene

Sources for ARID4A Gene