TRANSFAC FACTOR TABLE, Release 2017.2 - public - 2017-06-30, (C) QIAGEN

AC T00677 XX ID T00677 XX DT 16.12.1992 (created); ewi. DT 31.05.2010 (updated); ada. CO Copyright (C), QIAGEN. XX FA Pax-1 XX SY HuP48 (human); mPax-1; mPax1; Pax-1; PAX1. XX OS mouse, Mus musculus OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; rodentia; myomorpha; muridae; murinae XX GE G009198 Pax1. XX HO Pox meso, P29 (Drosophila). XX CL C0017; paired; XX SF no homeo domain; SF pI(calc) = 10.1; XX CP (embryo 8.5 days:) ventromedial part of somites, (embryo 9.5-10-5 days:) sclerotome cells, (embryo 12.5 days:) invertebral discs anlagen [6]; (embryo 14.5 days:) perichordal zone [3] [6]; (newborn:) ventral part of annulus fibrosus [6] [6] [3]. EX forelimb bud,,,Theiler Stage 17; detectable; RNA-in situ hybridization (not further specified); RNA (undefined); [9]. EX sclerotome,,,Theiler Stage 15; detectable; RNA-in situ hybridization (not further specified); RNA (undefined); [9]. XX FF activator [1]; FF involved in control of embryogenesis [4]; FF oncogenic potential, depending on an intact paired domain [4]; FF mutations cause Undulated phenotype (alterations in the vertebral column, sternum, scapula, facial skeleton an thymus), e. g. G18S within the paired domain [5] [2]; FF Undulated mutations causes a decreasing DNA-binding affinity and changing sequence specificity or a reduced amount of Pax-1 transcript [5] [1]; FF Pax-1 deficient mice lack vertebral bodies, invertebral discs and proximal part of the ribs [6]; FF notochord and dorsal root ganglia do not develop normally in undulated mice [6]; XX MX M00326 V$PAX1_B. MX M00808 V$PAX_Q6. XX BS R02802. BS R02803. BS R02804. BS R02805. BS R02806. BS R02807. BS R02808. BS R02230. XX DR TRANSPATH: MO000046033. DR PATHODB: MT000034. DR UniProtKB: P09084; PAX1_MOUSE. XX RN [1]; RE0002787. RX PUBMED: 1889089. RA Chalepakis G., Fritsch R., Fickenscher H., Deutsch U., Goulding M., Gruss P. RT The molecular basis of the undulated/Pax-1 mutation RL Cell 66:873-884 (1991). RN [2]; RE0002788. RX PUBMED: 3180219. RA Balling R., Deutsch U., Gruss P. RT undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1 RL Cell 55:531-535 (1988). RN [3]; RE0002789. RX PUBMED: 2453291. RA Deutsch U., Dressler G. R., Gruss P. RT Pax 1, a member of a paired box homologous murine gene family, is expressed in segmented structures during development RL Cell 53:617-625 (1988). RN [4]; RE0004244. RX PUBMED: 8099544. RA Maulbecker C. C., Gruss P. RT The oncogenic potential of Pax genes RL EMBO J. 12:2361-2367 (1993). RN [5]; RE0014119. RX PUBMED: 7875377. RA Dietrich S., Gruss P. RT undulated phenotypes suggest a role of Pax-1 for the development of vertebral and extravertebral structures RL Dev. Biol. 167:529-548 (1995). RN [6]; RE0014279. RX PUBMED: 8026324. RA Wallin J., Wilting J., Koseki H., Fritsch R., Christ B., Balling R. RT The role of Pax-1 in axial skeleton development RL Development 120:1109-1121 (1994). RN [7]; RE0014283. RX PUBMED: 7649395. RA Neubueser A., Koseki H., Balling R. RT Characterization and developmental expression of Pax9, a paired-box-containing gene related to Pax1 RL Dev. Biol. 170:701-716 (1995). RN [8]; RE0014313. RX PUBMED: 8625814. RA Song D. L., Chalepakis G., Gruss P., Joyner A. L. RT Two Pax-binding sites are required for early embryonic brain expression of an Engrailed-2 transgene RL Development 122:627-635 (1996). RN [9]; RE0013362. RX PUBMED: 9256352. RA Tribioli C., Frasch M., Lufkin T. RT Bapx1: an evolutionary conserved homologue of the Drosophila bagpipe homeobox gene is expressed in splanchnic mesoderm and the embryonic skeleton RL Mech. Dev. 65:145-162 (1997). XX //