Human Gene ARID5B (uc001jlt.2) Description and Page Index
Description: Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA. RefSeq Summary (NM_032199): This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]. Transcript (Including UTRs) Position: hg19 chr10:63,661,013-63,856,707 Size: 195,695 Total Exon Count: 10 Strand: + Coding Region Position: hg19 chr10:63,661,469-63,852,789 Size: 191,321 Coding Exon Count: 10
ID:ARI5B_HUMAN DESCRIPTION: RecName: Full=AT-rich interactive domain-containing protein 5B; Short=ARID domain-containing protein 5B; AltName: Full=MRF1-like protein; AltName: Full=Modulator recognition factor 2; Short=MRF-2; FUNCTION: Transcription coactivator that binds to the 5'-AATA[CT]- 3' core sequence and plays a key role in adipogenesis and liver development. Acts by forming a complex with phosphorylated PHF2, which mediates demethylation at Lys-336, leading to target the PHF2-ARID5B complex to target promoters, where PHF2 mediates demethylation of dimethylated 'Lys-9' of histone H3 (H3K9me2), followed by transcription activation of target genes. The PHF2- ARID5B complex acts as a coactivator of HNF4A in liver. Required for adipogenesis: regulates triglyceride metabolism in adipocytes by regulating expression of adipogenic genes. Overexpression leads to induction of smooth muscle marker genes, suggesting that it may also act as a regulator of smooth muscle cell differentiation and proliferation. Represses the cytomegalovirus enhancer. SUBCELLULAR LOCATION: Nucleus (By similarity). TISSUE SPECIFICITY: Widely expressed, including in liver (at protein level). DOMAIN: The ARID domain mediates the interaction with DNA. PTM: Methylation at Lys-336 prevents DNA-binding. Demethylation by PHF2 promotes recruitment of the PHF2-ARID5B complex to promoters. DISEASE: Note=Defects in ARID5B may be a cause of susceptibility to coronary atherosclerosis in the Japanese population. DISEASE: Defects in ARID5B may be a cause of susceptibility to acute lymphoblastic leukemia (ALL) [MIM:613065]. Note=ALL is a subtype of acute leukemia, a cancer of the white blood cells. ALL is a malignant disease of bone marrow and the most common malignancy diagnosed in children. The malignant cells are lymphoid precursor cells (lymphoblasts) that are arrested in an early stage of development. The lymphoblasts replace the normal marrow elements, resulting in a marked decrease in the production of normal blood cells. Consequently, anemia, thrombocytopenia, and neutropenia occur to varying degrees. The lymphoblasts also proliferate in organs other than the marrow, particularly the liver, spleen, and lymphonodes. SIMILARITY: Belongs to the ARID5B family. SIMILARITY: Contains 1 ARID domain. SEQUENCE CAUTION: Sequence=AAH15120.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH36831.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH66345.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAI07801.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAB15012.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
Genetic Association Studies of Complex Diseases and Disorders
Acute lymphoblastic leukemia (childhood) Papaemmanuil ,et al. 2009, Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia, Nature genetics 2009 41- 9 : 1006-10.
Acute lymphoblastic leukemia (childhood) Trevino ,et al. 2009, Germline genomic variants associated with childhood acute lymphoblastic leukemia, Nature genetics 2009 41- 9 : 1001-5.
germline variants affect susceptibility to, and characteristics of, specific ALL subtypes.
Arthritis, Rheumatoid Yukinori Okada et al. Nature genetics 2012, Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population., Nature genetics.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q14865
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0003677 DNA binding GO:0003713 transcription coactivator activity GO:0005515 protein binding GO:0032452 histone demethylase activity GO:0044212 transcription regulatory region DNA binding