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Gene Symbol |
ARID4B |
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Aliases |
BCAA, BRCAA1, RBBP1L1, RBP1L1, SAP180 |
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Entrez Gene ID |
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Gene Name |
AT-rich interaction domain 4B |
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Chromosomal Location |
1q42.3 |
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HGNC ID |
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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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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Protein Information |
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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 |
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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). |
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UniProt |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000396688 |
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P0C0L4 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Endocrine System Diseases |
PCOS |
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Neoplasms |
Adenoid Cystic Carcinoma |
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References |
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PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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PCOS, Androgen excess, chronic anovulation, insulin resistance |
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Rotterdam criteria |
Related
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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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