2mbv

Structural highlights

Function

LMO4_MOUSE Probable transcriptional factor.DEAF1_MOUSE Transcription factor that binds to sequence with multiple copies of 5'-TTC[CG]G-3' present in its own promoter and that of the HNRPA2B1 gene. Down-regulates transcription of these genes. Binds to the retinoic acid response element (RARE) 5'-AGGGTTCACCGAAAGTTCA-3'. Activates the proenkephalin gene independently of promoter binding, probably through protein-protein interaction (By similarity). Regulates epithelial cell proliferation and side-branching in the mammary gland. Required for neural tube closure and skeletal patterning. Controls the expression of peripheral tissue antigens in pancreatic lymph nodes. Isoform 1 displays greater transcriptional activity than isoform 2. Isoform 2 may inhibit transcriptional activity of isoform 1 by interacting with it and retaining it in the cytoplasm. Transcriptional activator of EIF4G3 (By similarity). May also involved in behavior (PubMed:24726472).[UniProtKB:O75398]^{[1] [2] [3] [4]}

References

1. ↑ Hahm K, Sum EY, Fujiwara Y, Lindeman GJ, Visvader JE, Orkin SH. Defective neural tube closure and anteroposterior patterning in mice lacking the LIM protein LMO4 or its interacting partner Deaf-1. Mol Cell Biol. 2004 Mar;24(5):2074-82. PMID:14966286 doi:10.1128/MCB.24.5.2074-2082.2004
2. ↑ Barker HE, Smyth GK, Wettenhall J, Ward TA, Bath ML, Lindeman GJ, Visvader JE. Deaf-1 regulates epithelial cell proliferation and side-branching in the mammary gland. BMC Dev Biol. 2008 Oct 1;8:94. doi: 10.1186/1471-213X-8-94. PMID:18826651 doi:10.1186/1471-213X-8-94
3. ↑ Yip L, Su L, Sheng D, Chang P, Atkinson M, Czesak M, Albert PR, Collier AR, Turley SJ, Fathman CG, Creusot RJ. Deaf1 isoforms control the expression of genes encoding peripheral tissue antigens in the pancreatic lymph nodes during type 1 diabetes. Nat Immunol. 2009 Sep;10(9):1026-33. doi: 10.1038/ni.1773. Epub 2009 Aug 9. PMID:19668219 doi:10.1038/ni.1773
4. ↑ Vulto-van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, de Rocker N, Newhall KJ, Raghavan R, Reardon SN, Jarrett K, McIntyre T, Bulinski J, Ownby SL, Huggenvik JI, McKnight GS, Rose GM, Cai X, Willaert A, Zweier C, Endele S, de Ligt J, van Bon BW, Lugtenberg D, de Vries PF, Veltman JA, van Bokhoven H, Brunner HG, Rauch A, de Brouwer AP, Carvill GL, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Menten B, Collard MW, de Vries BB. Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. Am J Hum Genet. 2014 May 1;94(5):649-61. PMID:24726472 doi:10.1016/j.ajhg.2014.03.013