AC T00679
XX
ID T00679
XX
DT 16.12.1992 (created); ewi.
DT 14.06.2013 (updated); mkl.
CO Copyright (C), QIAGEN.
XX
FA Pax-3
XX
SY hPax-3; hPax3; HuP2; PAX3.
XX
OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
XX
GE G003971 PAX3; HGNC: PAX3.
XX
CL C0018; paired-homeo; 3.2.1.1.1.1.
XX
SZ 479 AA; 53.0 kDa (gene) (calc.).
XX
SQ MTTLAGAVPRMMRPGPGQNYPRSGFPLEVSTPLGQGRVNQLGGVFINGRPLPNHIRHKIV
SQ EMAHHGIRPCVISRQLRVSHGCVSKILCRYQETGSIRPGAIGGSKPKQVTTPDVEKKIEE
SQ YKRENPGMFSWEIRDKLLKDAVCDRNTVPSVSSISRILRSKFGKGEEEEADLERKEAEES
SQ EKKAKHSIDGILSERASAPQSDEGSDIDSEPDLPLKRKQRRSRTTFTAEQLEELERAFER
SQ THYPDIYTREELAQRAKLTEARVQVWFSNRRARWRKQAGANQLMAFNHLIPGGFPPTAMP
SQ TLPTYQLSETSYQPTSIPQAVSDPSSTVHRPQPLPPSTVHQSTIPSNPDSSSAYCLPSTR
SQ HGFSSYTDSFVPPSGPSNPMNPTIGNGLSPQVMGLLTNHGGVPHQPQTDYALSPLTGGLE
SQ PTTTVSASCSQRLDHMKSLDSLPTSQSYCPPTYSTTGYSMDPVTGYQYGQYGQSKPWTF
XX
SC Swiss-Prot#P23760-1
XX
FT 34 159 
PF00292; 'Paired box' domain.
FT 34 159 
SM00351; pax3.
FT 34 161 
PS51057; PAIRED_2.
FT 196 479 
replaced by 196-206 in Pax-3B [8].
FT 196 479 
replaced by 196-215 in Pax-3A [8].
FT 217 277 
PS50071; HOMEOBOX_2.
FT 219 275 
PS50552; PAX.
FT 219 281 
SM00389; HOX_1.
FT 220 276 
PF00046; Homeobox domain.
XX
SF paired domain of the Paired-Gooseberry class [4];
SF alternative splice variants Pax-3A and -3B that lack the homeo domain [8];
SF chromosomal translocation t(2;
SF 13)(q35;
SF q14) causing alveolar rhabdomyosarcomas fuses Pax-3(1-391) with FKHR [4] [5];
SF in Pax-3-FKHR the forc head domain of FKHR is destroyed while the homeodomain and paired domain of Pax-3 are retained [10];
SF mutants causing Waardenburg syndrome are altered in DNA-binding or homodimerization;
SF heterodimerization with Pax-7 upon binding to palindromic homeo domain recognition sites [7];
SF protein interaction with hDaxx is mediated through the homeodomain and octapeptide domain [11];
XX
CP in the somite and in the dorsal region of the neutral tube (at the end of the third week, CS10) [12].
XX
FF activator, Pax-3-FKHR fusion protein is a more potent transcriptional activator than the normal Pax-3 although the binding to the e5 recognition sequence is significantly impaired compared to Pax-3 [10] [5];
FF mutations may cause Waardenburg's syndrome (sensorineural deafness, pigmentary abnormalities in iris and hair, eye displacement) [6];
FF hDaxx interacts with Pax-3 but not with Pax3-FKHR as a repressor [11];
XX
IN T02944 Daxx; human, Homo sapiens.
IN T00396 Pax-7-long; human, Homo sapiens.
XX
MX M00360 V$PAX3_01.
MX M00327 V$PAX3_B.
MX M00808 V$PAX_Q6.
XX
BS R15481.
BS R27791.
XX
DR TRANSPATH: MO000025101.
DR PATHODB: MT000024.
DR PATHODB: MT000025.
DR PATHODB: MT000026.
DR PATHODB: MT000027.
DR PATHODB: MT000028.
DR PATHODB: MT000029.
DR PATHODB: MT000030.
DR PATHODB: MT000031.
DR PATHODB: MT000033.
DR PATHODB: MT000036.
DR PATHODB: MT000038.
DR PATHODB: MT000039.
DR PATHODB: MT000040.
DR PATHODB: MT000041.
DR PATHODB: MT000042.
DR PATHODB: MT000043.
DR PATHODB: MT000044.
DR PATHODB: MT000045.
DR PATHODB: MT000046.
DR PATHODB: MT000047.
DR PATHODB: MT000048.
DR PATHODB: MT000049.
DR PATHODB: MT000050.
DR PATHODB: MT000051.
DR PATHODB: MT000052.
DR PATHODB: MT000053.
DR PATHODB: MT000054.
DR PATHODB: MT000055.
DR PATHODB: MT000056.
DR PATHODB: MT000057.
DR PATHODB: MT000058.
DR PATHODB: MT000059.
DR PATHODB: MT000060.
DR PATHODB: MT000061.
DR PATHODB: MT000062.
DR PATHODB: MT000063.
DR PATHODB: MT000064.
DR PATHODB: MT000065.
DR PATHODB: MT000066.
DR PATHODB: MT000067.
DR PATHODB: MT000068.
DR PATHODB: MT000069.
DR PATHODB: MT000070.
DR PATHODB: MT000071.
DR PATHODB: MT000072.
DR PATHODB: MT000073.
DR PATHODB: MT000074.
DR EMBL: M85237;
DR EMBL: X15043;
DR EMBL: X15252;
DR EMBL: X15253;
DR UniProtKB: P23760-1;
XX
RN [1]; RE0002796.
RX PUBMED: 2501086.
RA Burri M., Tromvoukis Y., Bopp D., Frigerio G., Noll M.
RT Conservation of the paired domain in metazoans and its structure in three isolated human genes
RL EMBO J. 8:1183-1190 (1989).
RN [2]; RE0002822.
RX PUBMED: 1347148.
RA Tassabehji M., Read A. P., Newton V. E., Harris R., Balling R., Gruss P., Strachan T.
RT Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
RL Nature 355:635-636 (1992).
RN [3]; RE0002823.
RX PUBMED: 1347149.
RA Baldwin C. T., Hoth C. F., Amos J. A., da-Silva E. O., Milunsky A.
RT An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
RL Nature 355:637-638 (1992).
RN [4]; RE0004208.
RX PUBMED: 8221646.
RA Shapiro D. N., Sublett J. E., Li B., Downing J. R., Naeve C. W.
RT Fusion of PAX3 to a member of the forkhead family of transcription factors in human alveolar rhabdomyosarcoma
RL Cancer Res. 53:5108-5112 (1993).
RN [5]; RE0004212.
RX PUBMED: 8275086.
RA Galili N., Davis R. J., Fredericks W. J., Mukhopadhyay S., Rauscher III F. J., Emanuel B. S., Rovera G., Barr F. G.
RT Fusion of a fork head domain to PAX-3 in the solid tumor alveolar rhabdomyosarcoma
RL Nat. Genet. 5:230-235 (1993).
RN [6]; RE0004245.
RX PUBMED: 7909605.
RA Chalepakis G., Goulding M., Read A., Strachan T., Gruss P.
RT Molecular basis of splotch and Waardenburg Pax-3 mutations
RL Proc. Natl. Acad. Sci. USA 91:3685-3689 (1994).
RN [7]; RE0004252.
RX PUBMED: 7527137.
RA Schaefer B. W., Czerny T., Bernasconi M., Genni M., Busslinger M.
RT Molecular cloning and characterization of a human PAX-7 cDNA expressed in normal and neoplastic myocytes
RL Nucleic Acids Res. 22:4574-4582 (1994).
RN [8]; RE0004255.
RX PUBMED: 7545913.
RA Tsukamoto K., Nakamura Y., Niikawa N.
RT Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues
RL Hum. Genet. 93:270-274 (1994).
RN [9]; RE0013821.
RX PUBMED: 9017978.
RA Morell R., Carey M. L., Lalwani A. K., Friedman T. B., Asher J. H. Jr.
RT Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1
RL Hum. Hered. 47:38-41 (1997).
RN [10]; RE0014045.
RX PUBMED: 7862145.
RA Fredericks W. J., Galili N., Mukhopadhyay S., Rovera G., Bennicelli J., Barr F. G., Rauscher F. J. 3rd.
RT The PAX3-FKHR fusion protein created by the t(2;13) translocation in alveolar rhabdomyosarcomas is a more potent transcriptional activator than PAX3
RL Mol. Cell. Biol. 15:1522-1535 (1995).
RN [11]; RE0014042.
RX PUBMED: 10393185.
RA Hollenbach A. D., Sublett J. E., McPherson C. J., Grosveld G.
RT The Pax3-FKHR oncoprotein is unresponsive to the Pax3-associated repressor hDaxx
RL EMBO J. 18:3702-3711 (1999).
RN [12]; RE0036083.
RX PUBMED: 12500905.
RA Fougerousse F., Durand M., Lopez S., Suel L., Demignon J., Thornton C., Ozaki H., Kawakami K., Barbet P., Beckmann J. S., Maire P.
RT Six and Eya expression during human somitogenesis and MyoD gene family activation.
RL J. Muscle Res. Cell. Motil. 23:255-264 (2002).
XX
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