ARID4B

Gene Information
 
Gene Symbol
ARID4B
 
Aliases
BCAA, BRCAA1, RBBP1L1, RBP1L1, SAP180
 
Entrez Gene ID
 
Gene Name
AT-rich interaction domain 4B
 
Chromosomal Location
1q42.3
 
HGNC ID
 
Summary
This gene encodes a protein with sequence similarity to retinoblastoma-binding protein-1. The encoded protein is a subunit of the histone deacetylase-dependant SIN3A transcriptional corepressor complex, which functions in diverse cellular processes including proliferation, differentiation, apoptosis, oncogenesis, and cell fate determination. The gene product is recognized by IgG antibody isolated from a breast cancer patient and appears to be a molecular marker associated with a broad range of human malignancies. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0006357 Biological process Regulation of transcription by RNA polymerase II IBA 21873635
GO:0005634 Cellular component Nucleus IBA 21873635
GO:0005515 Molecular function Protein binding IPI 20195357
GO:0044212 Molecular function Transcription regulatory region DNA binding IBA 21873635
Protein Information
 
Protein Name
AT-rich interactive domain-containing protein 4B, 180 kDa Sin3-associated polypeptide, ARID domain-containing protein 4B, AT rich interactive domain 4B (RBP1-like), Rb-binding protein homolog, SIN3A-associated protein 180, breast cancer-associated antigen 1, breast cancer-associated antigen BRCAA1, breast carcinoma-associated antigen, histone deacetylase complex subunit SAP180, retinoblastoma-binding protein 1-like 1, sin3-associated polypeptide p180
 
Function
Acts as a transcriptional repressor (PubMed:12724404). May function in the assembly and/or enzymatic activity of the Sin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes (PubMed:12724404). 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 ARID4A. Involved in spermatogenesis, together with ARID4A, where it functions as a transcriptional coactivator for AR (androgen receptor) 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. 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).
 
Refseq Proteins
 
UniProt
Pathways
 
Reactome
 

 

HDACs deacetylate histones

Interactions
 
STRING MINT IntAct
ENSP00000396688 P0C0L4
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Endocrine System Diseases
PCOS
Neoplasms
Adenoid Cystic Carcinoma
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
PCOS, Androgen excess, chronic anovulation, insulin resistance  
 
Rotterdam criteria 
Related 
Twenty obese women with PCOS, 18 obese women without PCOS 
PCOS was associated with significant metabolic alterations not attributed exclusively to androgen-related pathways, obesity, or MetS. Concentrations of essential amino acids and BCAA are increased in PCOS, which might result from or contribute to their insulin resistance 

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