AC T00396
XX
ID T00396
XX
DT 16.12.1992 (created); ewi.
DT 04.10.2012 (updated); mkl.
CO Copyright (C), QIAGEN.
XX
FA Pax-7-long
XX
SY hPax-7; hPax7; HuP1; PAX7.
XX
OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
XX
GE G004662 PAX7; HGNC: PAX7.
XX
CL C0018; paired-homeo; 3.2.1.1.2.1.
XX
SZ 520 AA; 56.9 kDa (cDNA) (calc.).
XX
SQ MAALPGTVPRMMRPAPGQNYPRTGFPLEVSTPLGQGRVNQLGGVFINGRPLPNHIRHKIV
SQ EMAHHGIRPCVISRQLRVSHGCVSKILCRYQETGSIRPGAIGGSKPRQVATPDVEKKIEE
SQ YKRENPGMFSWEIRDRLLKDGHCDRSTVPSGLVSSISRVLRIKFGKKEEEDEADKKEDDG
SQ EKKAKHSIDGILGDKGNRLDEGSDVESEPDLPLKRKQRRSRTTFTAEQLEELEKAFERTH
SQ YPDIYTREELAQRTKLTEARVQVWFSNRRARWRKQAGANQLAAFNHLLPGGFPPTGMPTL
SQ PPYQLPDSTYPTTTISQDGGSTVHRPQPLPPSTMHQGGLAAAAAAADTSSAYGARHSFSS
SQ YSDSFMNPAAPSNHMNPVSNGLSPQVMSILGNPSAVPPQPQADFSISPLHGGLDSATSIS
SQ ASCSQRADSIKPGDSLPTSQAYCPPTYSTTGYSVDPVAGYQYGQYGQSECLVPWASPVPI
SQ PSPTPRASCLFMESYKVVSGWGMSISQMEKLKSSQMEQFT
XX
SC Swiss-Prot#P23759-1
XX
FT 34 161 
PF00292; 'Paired box' domain.
FT 34 161 
SM00351; pax3.
FT 34 163 
PS51057; PAIRED_2.
FT 50 442 
PF00478; IMP dehydrogenase / GMP reductase domain.
FT 215 275 
PS50071; HOMEOBOX_2.
FT 217 273 
PS50552; PAX.
FT 217 279 
SM00389; HOX_1.
FT 218 274 
PF00046; Homeobox domain.
FT 342 467 
trans-activation domain [2].
XX
SF cooperative binding to palindromic TAAT-sites as homodimer or as heterodimer with Pax-3 [2];
SF chromosomal translocation t(1;
SF 13)(p36;
SF q14) fuses Pax-7-long with FKHR causing a variant of alveolar rhabdomyosarcoma [4];
SF probably protein interaction with hDaxx [5];
XX
CP high levels in rhabdomyosarcomas, very low in primary myoblasts [2].
XX
FF moderate activator [2];
FF absence of Sonic hedgehog (Shh) blocks expression of (mouse) Pax-3/7 [3];
XX
IN T02944 Daxx; human, Homo sapiens.
IN T00679 Pax-3; human, Homo sapiens.
IN T00396 Pax-7-long; human, Homo sapiens.
XX
MX M01339 V$PAX7_01.
XX
DR TRANSPATH: MO000024896.
DR EMBL: X15042;
DR EMBL: X15250;
DR EMBL: X15251;
DR EMBL: Z35141;
DR UniProtKB: P23759-1;
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]; 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 [3]; RE0006702.
RX PUBMED: 8929535.
RA Ericson J., Morton S., Kawakami A., Roelink H., Jessell T. M.
RT Two critical periods of Sonic Hedgehog signaling required for the specification of motor neuron identity
RL Cell 87:661-673 (1996).
RN [4]; RE0014051.
RX PUBMED: 8187070.
RA Davis R. J., D'Cruz C. M., Lovell M. A., Biegel J. A., Barr F. G.
RT Fusion of PAX7 to FKHR by the variant t(1;13)(p36;q14) translocation in alveolar rhabdomyosarcoma
RL Cancer Res. 54:2869-2872 (1994).
RN [5]; 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).
XX
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