ARID5B

AT-rich interactive domain-containing protein 5B is a protein that in humans is encoded by the ARID5B gene.[5][6][7]

ARID5B
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1IG6, 2OEH
Identifiers
Aliases	ARID5B, DESRT, MRF-2, MRF2, AT-rich interaction domain 5B
External IDs	OMIM: 608538 MGI: 2175912 HomoloGene: 45872 GeneCards: ARID5B
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q21.2 Start 61,901,684 bp[1] End 62,096,944 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10|10 B5.2 Start 68,092,520 bp[2] End 68,278,740 bp[2]
Gene ontology Molecular function • DNA binding • RNA polymerase II regulatory region sequence-specific DNA binding • GO:0001105 transcription coactivator activity • GO:0001948 protein binding • GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific • histone demethylase activity • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • nucleoplasm • cell nucleus Biological process • regulation of transcription, DNA-templated • negative regulation of transcription from RNA polymerase II promoter • transcription, DNA-templated • liver development • negative regulation of transcription, DNA-templated • histone demethylation • kidney development • nitrogen compound metabolic process • male gonad development • female gonad development • post-embryonic development • fibroblast migration • adrenal gland development • multicellular organism growth • fat cell differentiation • platelet-derived growth factor receptor signaling pathway • cell development • muscle organ morphogenesis • skeletal system morphogenesis • positive regulation of sequence-specific DNA binding transcription factor activity • palate development • face morphogenesis • adipose tissue development • fat pad development • cellular response to leukemia inhibitory factor • positive regulation of nucleic acid-templated transcription • regulation of transcription from RNA polymerase II promoter Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	84159	71371
Ensembl	ENSG00000150347	ENSMUSG00000019947
UniProt	Q14865	Q8BM75
RefSeq (mRNA)	NM_001244638 NM_032199	NM_023598
RefSeq (protein)	NP_001231567 NP_115575	NP_076087
Location (UCSC)	Chr 10: 61.9 – 62.1 Mb	Chr 10: 68.09 – 68.28 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Alternative names for this gene include Modulator recognition factor 23.

Genomics

The gene is located on the long arm of chromosome 10 (10q21.2) on the 'plus' strand. It spans 195,261 base pairs in length. It encodes a protein of predicted length and molecular weight of 1188 amino acids and 132.375 kilo Daltons respectively.

Clinical importance

Through genome wide association studies (GWAS),some of the single nucleotide polymorphisms (SNPs) located in this gene has been noticed to be significantly associated with susceptibility [8][9][10] as well as treatment outcomes [11] of childhood acute lymphoblastic leukaemia in ethnically diverse populations.

References

1. GRCh38: Ensembl release 89: ENSG00000150347 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000019947 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Lahoud MH, Ristevski S, Venter DJ, Jermiin LS, Bertoncello I, Zavarsek S, Hasthorpe S, Drago J, de Kretser D, Hertzog PJ, Kola I (Aug 2001). "Gene targeting of Desrt, a novel ARID class DNA-binding protein, causes growth retardation and abnormal development of reproductive organs". Genome Research. 11 (8): 1327–34. doi:10.1101/gr.168801. PMID 11483573.
6. Zhu L, Hu J, Lin D, Whitson R, Itakura K, Chen Y (Aug 2001). "Dynamics of the Mrf-2 DNA-binding domain free and in complex with DNA". Biochemistry. 40 (31): 9142–50. doi:10.1021/bi010476a. PMID 11478881.
7. "Entrez Gene: ARID5B AT rich interactive domain 5B (MRF1-like)".
8. Xu H, Yang W, Perez-Andreu V, Devidas M, Fan Y, Cheng C, et al. (May 2013). "Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations". Journal of the National Cancer Institute. 105 (10): 733–42. doi:10.1093/jnci/djt042. PMC 3691938. PMID 23512250.
9. Treviño LR, Yang W, French D, Hunger SP, Carroll WL, Devidas M, et al. (September 2009). "Germline genomic variants associated with childhood acute lymphoblastic leukemia". Nature Genetics. 41 (9): 1001–5. doi:10.1038/ng.432. PMC 2762391. PMID 19684603.
10. Papaemmanuil E, Hosking FJ, Vijayakrishnan J, Price A, Olver B, Sheridan E, et al. (September 2009). "Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia". Nature Genetics. 41 (9): 1006–10. doi:10.1038/ng.430. PMC 4915548. PMID 19684604.
11. Xu H, Cheng C, Devidas M, Pei D, Fan Y, Yang W, et al. (March 2012). "ARID5B genetic polymorphisms contribute to racial disparities in the incidence and treatment outcome of childhood acute lymphoblastic leukemia". Journal of Clinical Oncology. 30 (7): 751–7. doi:10.1200/JCO.2011.38.0345. PMC 3295551. PMID 22291082.

External links

• Human ARID5B genome location and ARID5B gene details page in the UCSC Genome Browser.

Further reading

• Yuan YC, Whitson RH, Liu Q, Itakura K, Chen Y (Nov 1998). "A novel DNA-binding motif shares structural homology to DNA replication and repair nucleases and polymerases". Nature Structural Biology. 5 (11): 959–64. doi:10.1038/2934. PMID 9808040.
• Whitson RH, Huang T, Itakura K (May 1999). "The novel Mrf-2 DNA-binding domain recognizes a five-base core sequence through major and minor-groove contacts". Biochemical and Biophysical Research Communications. 258 (2): 326–31. doi:10.1006/bbrc.1999.0643. PMID 10329386.
• Patsialou A, Wilsker D, Moran E (2005). "DNA-binding properties of ARID family proteins". Nucleic Acids Research. 33 (1): 66–80. doi:10.1093/nar/gki145. PMC 546134. PMID 15640446.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (Nov 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.