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Paired box protein Pax-3 (HuP2)

 PAX3_HUMAN              Reviewed;         479 AA.
P23760; G5E9C1; Q16448; Q494Z3; Q494Z4; Q53T90; Q6GSJ9; Q86UQ2;
Q86UQ3;
01-NOV-1991, integrated into UniProtKB/Swiss-Prot.
01-NOV-1995, sequence version 2.
22-NOV-2017, entry version 197.
RecName: Full=Paired box protein Pax-3;
AltName: Full=HuP2;
Name=PAX3; Synonyms=HUP2;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PAX3G AND PAX3H), AND ALTERNATIVE
SPLICING.
PubMed=14639621; DOI=10.1002/ijc.11527;
Parker C.J., Shawcross S.G., Li H., Wang Q.-Y., Herrington C.S.,
Kumar S., MacKie R.M., Prime W., Renne I.G., Sisley K., Kumar P.;
"Expression of PAX 3 alternatively spliced transcripts and
identification of two new isoforms in human tumors of neural crest
origin.";
Int. J. Cancer 108:314-320(2004).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7).
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15815621; DOI=10.1038/nature03466;
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
Waterston R.H., Wilson R.K.;
"Generation and annotation of the DNA sequences of human chromosomes 2
and 4.";
Nature 434:724-731(2005).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS PAX3B; 6 AND 7).
TISSUE=Skin;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-29 AND 197-479.
PubMed=7782066; DOI=10.1016/0888-7543(95)80076-X;
Macina R.A., Barr F.G., Galili N., Riethman H.C.;
"Genomic organization of the human PAX3 gene: DNA sequence analysis of
the region disrupted in alveolar rhabdomyosarcoma.";
Genomics 26:1-8(1995).
[7]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 30-195.
PubMed=2501086;
Burri M., Tromvoukis Y., Bopp D., Frigerio G., Noll M.;
"Conservation of the paired domain in metazoans and its structure in
three isolated human genes.";
EMBO J. 8:1183-1190(1989).
[8]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 196-392, AND VARIANTS WS1 LEU-45
AND ASP-99.
PubMed=7981674; DOI=10.1093/hmg/3.7.1069;
Tassabehji M., Newton V.E., Leverton K., Turnbull K., Seemanova E.,
Kunze J., Sperling K., Strachan T., Read A.P.;
"PAX3 gene structure and mutations: close analogies between
Waardenburg syndrome and the Splotch mouse.";
Hum. Mol. Genet. 3:1069-1074(1994).
[9]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PAX3A AND PAX3B).
PubMed=7545913; DOI=10.1007/BF00212021;
Tsukamoto K., Nakamura Y., Niikawa N.;
"Isolation of two isoforms of the PAX3 gene transcripts and their
tissue-specific alternative expression in human adult tissues.";
Hum. Genet. 93:270-274(1994).
[10]
NUCLEOTIDE SEQUENCE OF 1-319 (ISOFORM 6/7), AND CHROMOSOMAL
TRANSLOCATION WITH NCOA1.
PubMed=15313887; DOI=10.1158/0008-5472.CAN-04-0844;
Wachtel M., Dettling M., Koscielniak E., Stegmaier S., Treuner J.,
Simon-Klingenstein K., Buehlmann P., Niggli F.K., Schaefer B.W.;
"Gene expression signatures identify rhabdomyosarcoma subtypes and
detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1.";
Cancer Res. 64:5539-5545(2004).
[11]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 56-74, AND VARIANT WS1
63-ALA--ILE-67 DEL.
PubMed=1347148; DOI=10.1038/355635a0;
Tassabehji M., Read A.P., Newton V.E., Harris R., Balling R.,
Gruss P., Strachan T.;
"Waardenburg's syndrome patients have mutations in the human homologue
of the Pax-3 paired box gene.";
Nature 355:635-636(1992).
[12]
NUCLEOTIDE SEQUENCE OF 265-319.
Lalwani A.K., Ploplis B., Fex J., Grundfast K.M., San Agustin T.B.,
Wilcox E.R.;
Submitted (MAR-1996) to the EMBL/GenBank/DDBJ databases.
[13]
INVOLVEMENT IN RMS2, AND CHROMOSOMAL TRANSLOCATION WITH FOXO1.
PubMed=8275086; DOI=10.1038/ng1193-230;
Galili N., Davis R.J., Fredericks W.J., Mukhopadhyay S.,
Rauscher F.J. III, Emanuel B.S., Rovera G., Barr F.G.;
"Fusion of a fork head domain gene to PAX3 in the solid tumour
alveolar rhabdomyosarcoma.";
Nat. Genet. 5:230-235(1993).
[14]
INTERACTION WITH DAXX.
PubMed=10393185; DOI=10.1093/emboj/18.13.3702;
Hollenbach A.D., Sublett J.E., McPherson C.J., Grosveld G.;
"The Pax3-FKHR oncoprotein is unresponsive to the Pax3-associated
repressor hDaxx.";
EMBO J. 18:3702-3711(1999).
[15]
INVOLVEMENT IN WS1.
PubMed=1303193; DOI=10.1093/hmg/1.4.243;
Morell R., Friedman T.B., Moeljopawiro S., Hartono S., Asher J.H. Jr.;
"A frameshift mutation in the HuP2 paired domain of the probable human
homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1
in an Indonesian family.";
Hum. Mol. Genet. 1:243-247(1992).
[16]
ALTERNATIVE SPLICING, AND FUNCTION.
PubMed=16951170; DOI=10.1158/0008-5472.CAN-06-0947;
Wang Q., Kumar S., Slevin M., Kumar P.;
"Functional analysis of alternative isoforms of the transcription
factor PAX3 in melanocytes in vitro.";
Cancer Res. 66:8574-8580(2006).
[17]
PHOSPHORYLATION AT SER-201; SER-205 AND SER-209.
PubMed=21440083; DOI=10.1016/j.biocel.2011.03.010;
Dietz K.N., Miller P.J., Iyengar A.S., Loupe J.M., Hollenbach A.D.;
"Identification of serines 201 and 209 as sites of Pax3
phosphorylation and the altered phosphorylation status of Pax3-FOXO1
during early myogenic differentiation.";
Int. J. Biochem. Cell Biol. 43:936-945(2011).
[18]
FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH SOX10, AND
CHARACTERIZATION OF VARIANT WS1 ASP-80.
PubMed=21965087; DOI=10.1007/s00439-011-1098-2;
Zhang H., Chen H., Luo H., An J., Sun L., Mei L., He C., Jiang L.,
Jiang W., Xia K., Li J.D., Feng Y.;
"Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10
mutations: report of a dominant-negative SOX10 mutation in Waardenburg
syndrome type II.";
Hum. Genet. 131:491-503(2012).
[19]
X-RAY CRYSTALLOGRAPHY (1.95 ANGSTROMS) OF 219-278 IN COMPLEX WITH DNA,
AND SUBUNIT.
PubMed=19199574; DOI=10.1021/bi802052y;
Birrane G., Soni A., Ladias J.A.;
"Structural basis for DNA recognition by the human PAX3 homeodomain.";
Biochemistry 48:1148-1155(2009).
[20]
VARIANT WS1 LEU-50.
PubMed=1347149; DOI=10.1038/355637a0;
Baldwin C.T., Hoth C.F., Amos J.A., Da-Silva E.O., Milunsky A.;
"An exonic mutation in the HuP2 paired domain gene causes
Waardenburg's syndrome.";
Nature 355:637-638(1992).
[21]
VARIANT WS1 ALA-81.
PubMed=8490648; DOI=10.1038/ng0193-26;
Tassabehji M., Read A.P., Newton V.E., Patton M., Gruss P., Harris R.,
Strachan T.;
"Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and
type 2.";
Nat. Genet. 3:26-30(1993).
[22]
VARIANTS WS3 HIS-47 AND WS1 LEU-56.
PubMed=8447316;
Hoth C.F., Milunsky A., Lipsky N., Sheffer R., Clarren S.K.,
Baldwin C.T.;
"Mutations in the paired domain of the human PAX3 gene cause Klein-
Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I
(WS-I).";
Am. J. Hum. Genet. 52:455-462(1993).
[23]
VARIANT WS1 VAL-62.
PubMed=7833953; DOI=10.1002/humu.1380040310;
Pierpont J.W., Doolan L.D., Amann K., Snead G.R., Erickson R.P.;
"A single base pair substitution within the paired box of PAX3 in an
individual with Waardenburg syndrome type 1 (WS1).";
Hum. Mutat. 4:227-228(1994).
[24]
VARIANTS WS1 PHE-265 AND GLY-271.
PubMed=7825605;
Lalwani A.K., Brister J.R., Fex J., Grundfast K.M., Ploplis B.,
San Agustin T.B., Wilcox E.R.;
"Further elucidation of the genomic structure of PAX3, and
identification of two different point mutations within the PAX3
homeobox that cause Waardenburg syndrome type 1 in two families.";
Am. J. Hum. Genet. 56:75-83(1995).
[25]
VARIANT WS3 PHE-84.
PubMed=7726174;
Zlotogora J., Lerer I., Bar-David S., Ergaz Z., Abeliovich D.;
"Homozygosity for Waardenburg syndrome.";
Am. J. Hum. Genet. 56:1173-1178(1995).
[26]
VARIANTS WS1 MET-60; GLU-85 AND SER-238.
PubMed=8533800; DOI=10.1002/ajmg.1320580205;
Baldwin C.T., Hoth C.F., Macina R.A., Milunsky A.;
"Mutations in PAX3 that cause Waardenburg syndrome type I: ten new
mutations and review of the literature.";
Am. J. Med. Genet. 58:115-122(1995).
[27]
VARIANTS WS1 MET-78; ALA-81; ASP-99; CYS-266; CYS-270; CYS-271 AND
HIS-271, AND VARIANT LYS-315.
PubMed=8589691; DOI=10.1093/hmg/4.11.2131;
Tassabehji M., Newton V.E., Liu X.-Z., Brady A., Donnai D.,
Krajewska-Walasek M., Murday V., Norman A., Obersztyn E., Reardon W.,
Rice J.C., Trembath R., Wieacker P., Whiteford M., Winter R.,
Read A.P.;
"The mutational spectrum in Waardenburg syndrome.";
Hum. Mol. Genet. 4:2131-2137(1995).
[28]
VARIANTS WS1 ARG-48; 223-ARG--PHE-479 DEL; CYS-270; HIS-271 AND
LYS-273, AND VARIANT LYS-315.
PubMed=8845842; DOI=10.1093/hmg/5.4.497;
Pandya A., Xia X.-J., Landa B.L., Arnos K.S., Israel J., Lloyd J.,
James A.L., Diehl S.R., Blanton S.H., Nance W.E.;
"Phenotypic variation in Waardenburg syndrome: mutational
heterogeneity, modifier genes or polygenic background?";
Hum. Mol. Genet. 5:497-502(1996).
[29]
VARIANT CDHS LYS-47.
PubMed=8664898;
DOI=10.1002/(SICI)1098-1004(1996)7:1<30::AID-HUMU4>3.3.CO;2-H;
Asher J.H. Jr., Sommer A., Morell R., Friedman T.B.;
"Missense mutation in the paired domain of PAX3 causes craniofacial-
deafness-hand syndrome.";
Hum. Mutat. 7:30-35(1996).
[30]
VARIANT LYS-315.
PubMed=8863157; DOI=10.1136/jmg.33.8.655;
Hol F.A., Geurds M.P.A., Chatkupt S., Shugart Y.Y., Balling R.,
Schrander-Stumpel C.T.R.M., Johnson W.G., Hamel B.C.J.,
Mariman E.C.M.;
"PAX genes and human neural tube defects: an amino acid substitution
in PAX1 in a patient with spina bifida.";
J. Med. Genet. 33:655-660(1996).
[31]
VARIANT WS1 PHE-59.
PubMed=9067759;
DOI=10.1002/(SICI)1098-1004(1997)9:2<177::AID-HUMU11>3.0.CO;2-#;
Soejima H., Fujimoto M., Tsukamoto K., Matsumoto N., Yoshiura K.,
Fukushima Y., Jinno Y., Niikawa N.;
"Three novel PAX3 mutations observed in patients with Waardenburg
syndrome type 1.";
Hum. Mutat. 9:177-180(1997).
[32]
VARIANT WS1 VAL-62.
PubMed=9452070;
Hol F.A., Geurds M.P.A., Cremers C.W.R.J., Hamel B.C.J.,
Mariman E.C.M.;
"Identification of two PAX3 mutations causing Waardenburg syndrome,
one within the paired domain (M62V) and the other downstream of the
homeodomain (Q282X).";
Hum. Mutat. Suppl. 1:S145-S147(1998).
[33]
VARIANT WS1 HIS-391.
PubMed=9541113; DOI=10.1136/jmg.35.3.248;
Carey M.L., Friedman T.B., Asher J.H. Jr., Innis J.W.;
"Septo-optic dysplasia and WS1 in the proband of a WS1 family
segregating for a novel mutation in PAX3 exon 7.";
J. Med. Genet. 35:248-250(1998).
[34]
VARIANT LYS-315.
PubMed=9584079; DOI=10.1006/mcpr.1997.0149;
Wang C., Kim E., Attaie A., Smith T.N., Wilcox E.R., Lalwani A.K.;
"A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg
syndrome type 2.";
Mol. Cell. Probes 12:55-57(1998).
[35]
VARIANT WS1 ASN-59.
Markova T.G., Shevtsov S.P., Moskolenko L.N., Lantsov A.A.,
Schwartz E.I.;
"A novel missense mutation Ile59Asn in the PAX3 gene in a family with
Waardenburg syndrome type I.";
Hum. Mutat. 13:85-85(1999).
[36]
VARIANT WS3 CYS-270.
Bottani A., Antonarakis S.E., Blouin J.-L.;
Submitted (MAY-1999) to UniProtKB.
[37]
VARIANT WS1 LEU-73.
PubMed=10779847; DOI=10.1076/1381-6810(200003)2111-IFT025;
Sotirova V.N., Rezaie T.M., Khoshsorour M.M., Sarfarazi M.;
"Identification of a novel mutation in the paired domain of PAX3 in an
Iranian family with Waardenburg syndrome type I.";
Ophthalmic Genet. 21:25-28(2000).
[38]
VARIANT WS1 MET-60, AND VARIANT WS3 HIS-90.
PubMed=12949970; DOI=10.1002/ajmg.a.20260;
Wollnik B., Tukel T., Uyguner O., Ghanbari A., Kayserili H.,
Emiroglu M., Yuksel-Apak M.;
"Homozygous and heterozygous inheritance of PAX3 mutations causes
different types of Waardenburg syndrome.";
Am. J. Med. Genet. A 122:42-45(2003).
[39]
VARIANT WS1 PRO-234.
PubMed=16971891;
Qin W., Shu A., Qian X., Gao J., Xing Q., Zhang J., Zheng Y., Li X.,
Li S., Feng G., He L.;
"A novel mutation of PAX3 in a Chinese family with Waardenburg
syndrome.";
Mol. Vis. 12:1001-1008(2006).
[40]
VARIANTS WS1 ASP-80; 223-ARG--PHE-479 DEL; PRO-234 AND HIS-271.
PubMed=20478267; DOI=10.1016/j.bbrc.2010.05.066;
Chen H., Jiang L., Xie Z., Mei L., He C., Hu Z., Xia K., Feng Y.;
"Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients
with type I or type II Waardenburg syndrome.";
Biochem. Biophys. Res. Commun. 397:70-74(2010).
-!- FUNCTION: Transcription factor that may regulate cell
proliferation, migration and apoptosis. Involved in neural
development and myogenesis. Transcriptional activator of MITF,
acting synergistically with SOX10 (PubMed:21965087).
{ECO:0000269|PubMed:16951170, ECO:0000269|PubMed:21965087}.
-!- SUBUNIT: Can bind to DNA as a homodimer or a heterodimer with
PAX7. Interacts with PAXBP1; the interaction links PAX3 to a WDR5-
containing histone methyltransferase complex. Interacts with DAXX.
Interacts with TBX18. Interacts with SOX10 (PubMed:21965087).
{ECO:0000250|UniProtKB:P24610, ECO:0000269|PubMed:10393185,
ECO:0000269|PubMed:19199574, ECO:0000269|PubMed:21965087}.
-!- INTERACTION:
P20265:POU3F2; NbExp=2; IntAct=EBI-1167564, EBI-1167176;
P56693:SOX10; NbExp=2; IntAct=EBI-1167564, EBI-1167533;
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21965087}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=8;
Name=Pax3; Synonyms=Pax3C;
IsoId=P23760-1; Sequence=Displayed;
Name=Pax3A;
IsoId=P23760-2; Sequence=VSP_002355, VSP_002356;
Name=Pax3B;
IsoId=P23760-3; Sequence=VSP_002357, VSP_002358;
Name=Pax3G;
IsoId=P23760-4; Sequence=VSP_042004;
Name=Pax3H;
IsoId=P23760-5; Sequence=VSP_042005;
Name=6;
IsoId=P23760-6; Sequence=VSP_043634, VSP_043635;
Note=No experimental confirmation available.;
Name=7;
IsoId=P23760-7; Sequence=VSP_043635;
Name=Pax3E;
IsoId=P23760-8; Sequence=VSP_044915;
-!- DISEASE: Waardenburg syndrome 1 (WS1) [MIM:193500]: WS1 is an
autosomal dominant disorder characterized by non-progressive
sensorineural deafness, pigmentary disturbances such as frontal
white blaze of hair, heterochromia of irides, white eyelashes,
leukoderma, and wide bridge of nose owing to lateral displacement
of the inner canthus of each eye (dystopia canthorum). WS1 shows
variable clinical expression and some affected individuals do not
manifest hearing impairment or iris pigmentation disturbances.
Dystopia canthorum is the most consistent sign and is found in 98%
of the patients. {ECO:0000269|PubMed:10779847,
ECO:0000269|PubMed:12949970, ECO:0000269|PubMed:1303193,
ECO:0000269|PubMed:1347148, ECO:0000269|PubMed:1347149,
ECO:0000269|PubMed:16971891, ECO:0000269|PubMed:20478267,
ECO:0000269|PubMed:21965087, ECO:0000269|PubMed:7825605,
ECO:0000269|PubMed:7833953, ECO:0000269|PubMed:7981674,
ECO:0000269|PubMed:8447316, ECO:0000269|PubMed:8490648,
ECO:0000269|PubMed:8533800, ECO:0000269|PubMed:8589691,
ECO:0000269|PubMed:8845842, ECO:0000269|PubMed:9067759,
ECO:0000269|PubMed:9452070, ECO:0000269|PubMed:9541113,
ECO:0000269|Ref.35}. Note=The disease is caused by mutations
affecting the gene represented in this entry.
-!- DISEASE: Waardenburg syndrome 3 (WS3) [MIM:148820]: WS3 is an
autosomal dominant disorder characterized by sensorineural
deafness, pigmentary disturbances, dystopia canthorum and limb
anomalies such as hypoplasia of the musculoskeletal system,
flexion contractures, fusion of the carpal bones, syndactylies.
{ECO:0000269|PubMed:12949970, ECO:0000269|PubMed:7726174,
ECO:0000269|PubMed:8447316, ECO:0000269|Ref.36}. Note=The disease
is caused by mutations affecting the gene represented in this
entry.
-!- DISEASE: Craniofacial-deafness-hand syndrome (CDHS) [MIM:122880]:
Thought to be an autosomal dominant disease which comprises
absence or hypoplasia of the nasal bones, hypoplastic maxilla,
small and short nose with thin nares, limited movement of the
wrist, short palpebral fissures, ulnar deviation of the fingers,
hypertelorism and profound sensory-neural deafness.
{ECO:0000269|PubMed:8664898}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Rhabdomyosarcoma 2 (RMS2) [MIM:268220]: A form of
rhabdomyosarcoma, a highly malignant tumor of striated muscle
derived from primitive mesenchymal cells and exhibiting
differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is
one of the most frequently occurring soft tissue sarcomas and the
most common in children. It occurs in four forms: alveolar,
pleomorphic, embryonal and botryoidal rhabdomyosarcomas.
{ECO:0000269|PubMed:8275086}. Note=The gene represented in this
entry is involved in disease pathogenesis. A chromosomal
aberration involving PAX3 is found in rhabdomyosarcoma.
Translocation (2;13)(q35;q14) with FOXO1. The resulting protein is
a transcriptional activator. {ECO:0000269|PubMed:8275086}.
-!- DISEASE: Note=A chromosomal aberration involving PAX3 is a cause
of rhabdomyosarcoma. Translocation t(2;2)(q35;p23) with NCOA1
generates the NCOA1-PAX3 oncogene consisting of the N-terminus
part of PAX3 and the C-terminus part of NCOA1. The fusion protein
acts as a transcriptional activator. Rhabdomyosarcoma is the most
common soft tissue carcinoma in childhood, representing 5-8% of
all malignancies in children. {ECO:0000269|PubMed:15313887}.
-!- SIMILARITY: Belongs to the paired homeobox family. {ECO:0000305}.
-!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
and Haematology;
URL="http://atlasgeneticsoncology.org/Genes/PAX3ID70ch2q35.html";
-----------------------------------------------------------------------
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
Distributed under the Creative Commons Attribution-NoDerivs License
-----------------------------------------------------------------------
EMBL; AY251279; AAP13872.1; -; mRNA.
EMBL; AY251280; AAP13873.1; -; mRNA.
EMBL; AK291278; BAF83967.1; -; mRNA.
EMBL; AC010980; AAY14900.1; -; Genomic_DNA.
EMBL; AC012591; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471063; EAW70789.1; -; Genomic_DNA.
EMBL; CH471063; EAW70791.1; -; Genomic_DNA.
EMBL; CH471063; EAW70794.1; -; Genomic_DNA.
EMBL; CH471063; EAW70796.1; -; Genomic_DNA.
EMBL; BC063547; AAH63547.1; -; mRNA.
EMBL; BC101299; AAI01300.1; -; mRNA.
EMBL; BC101300; AAI01301.1; -; mRNA.
EMBL; BC101301; AAI01302.1; -; mRNA.
EMBL; BC101302; AAI01303.1; -; mRNA.
EMBL; BC114363; AAI14364.1; -; mRNA.
EMBL; U12263; AAA80573.1; -; Genomic_DNA.
EMBL; U12259; AAA80574.1; -; Genomic_DNA.
EMBL; U12258; AAA80574.1; JOINED; Genomic_DNA.
EMBL; U12260; AAA80574.1; JOINED; Genomic_DNA.
EMBL; U12262; AAA80574.1; JOINED; Genomic_DNA.
EMBL; X15043; CAA33145.1; -; Genomic_DNA.
EMBL; X15252; CAA33145.1; JOINED; Genomic_DNA.
EMBL; X15253; CAA33145.1; JOINED; Genomic_DNA.
EMBL; Z29972; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; Z29973; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; Z29974; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; S69369; AAB30167.1; -; mRNA.
EMBL; S69370; AAB30168.1; -; mRNA.
EMBL; AY633656; AAT47737.1; -; mRNA.
EMBL; S83614; AAB21476.1; -; Genomic_DNA.
EMBL; L10614; AAA91849.1; -; Genomic_DNA.
CCDS; CCDS2448.1; -. [P23760-8]
CCDS; CCDS2449.1; -. [P23760-5]
CCDS; CCDS2450.1; -. [P23760-4]
CCDS; CCDS2451.1; -. [P23760-3]
CCDS; CCDS42825.1; -. [P23760-7]
CCDS; CCDS42826.1; -. [P23760-1]
CCDS; CCDS46522.1; -. [P23760-6]
CCDS; CCDS46523.1; -. [P23760-2]
PIR; I54276; I54276.
PIR; I68547; I68547.
PIR; S06960; S06960.
RefSeq; NP_000429.2; NM_000438.5. [P23760-2]
RefSeq; NP_001120838.1; NM_001127366.2. [P23760-6]
RefSeq; NP_039230.1; NM_013942.4. [P23760-3]
RefSeq; NP_852122.1; NM_181457.3. [P23760-1]
RefSeq; NP_852123.1; NM_181458.3. [P23760-7]
RefSeq; NP_852124.1; NM_181459.3. [P23760-8]
RefSeq; NP_852125.1; NM_181460.3. [P23760-5]
RefSeq; NP_852126.1; NM_181461.3. [P23760-4]
UniGene; Hs.42146; -.
PDB; 3CMY; X-ray; 1.95 A; A=219-278.
PDBsum; 3CMY; -.
ProteinModelPortal; P23760; -.
SMR; P23760; -.
BioGrid; 111111; 21.
CORUM; P23760; -.
IntAct; P23760; 11.
MINT; MINT-202884; -.
STRING; 9606.ENSP00000375921; -.
iPTMnet; P23760; -.
PhosphoSitePlus; P23760; -.
BioMuta; PAX3; -.
DMDM; 1172022; -.
EPD; P23760; -.
MaxQB; P23760; -.
PaxDb; P23760; -.
PeptideAtlas; P23760; -.
PRIDE; P23760; -.
DNASU; 5077; -.
Ensembl; ENST00000258387; ENSP00000258387; ENSG00000135903. [P23760-3]
Ensembl; ENST00000336840; ENSP00000338767; ENSG00000135903. [P23760-5]
Ensembl; ENST00000344493; ENSP00000342092; ENSG00000135903. [P23760-4]
Ensembl; ENST00000350526; ENSP00000343052; ENSG00000135903. [P23760-1]
Ensembl; ENST00000392069; ENSP00000375921; ENSG00000135903. [P23760-8]
Ensembl; ENST00000392070; ENSP00000375922; ENSG00000135903. [P23760-7]
Ensembl; ENST00000409551; ENSP00000386750; ENSG00000135903. [P23760-6]
Ensembl; ENST00000409828; ENSP00000386817; ENSG00000135903. [P23760-2]
GeneID; 5077; -.
KEGG; hsa:5077; -.
UCSC; uc002vmt.3; human. [P23760-1]
CTD; 5077; -.
DisGeNET; 5077; -.
EuPathDB; HostDB:ENSG00000135903.18; -.
GeneCards; PAX3; -.
GeneReviews; PAX3; -.
HGNC; HGNC:8617; PAX3.
HPA; HPA063659; -.
HPA; HPA069000; -.
MalaCards; PAX3; -.
MIM; 122880; phenotype.
MIM; 148820; phenotype.
MIM; 193500; phenotype.
MIM; 268220; phenotype.
MIM; 606597; gene.
neXtProt; NX_P23760; -.
OpenTargets; ENSG00000135903; -.
Orphanet; 99756; Alveolar rhabdomyosarcoma.
Orphanet; 1529; Craniofacial-deafness-hand syndrome.
Orphanet; 894; Waardenburg syndrome type 1.
Orphanet; 896; Waardenburg syndrome type 3.
PharmGKB; PA32957; -.
eggNOG; KOG0849; Eukaryota.
eggNOG; ENOG410XS01; LUCA.
GeneTree; ENSGT00680000099553; -.
HOGENOM; HOG000230939; -.
HOVERGEN; HBG009115; -.
InParanoid; P23760; -.
KO; K09381; -.
OMA; VHQSTLP; -.
OrthoDB; EOG091G0S4E; -.
PhylomeDB; P23760; -.
TreeFam; TF351610; -.
Reactome; R-HSA-3214847; HATs acetylate histones.
SignaLink; P23760; -.
SIGNOR; P23760; -.
ChiTaRS; PAX3; human.
EvolutionaryTrace; P23760; -.
GeneWiki; PAX3; -.
GenomeRNAi; 5077; -.
PRO; PR:P23760; -.
Proteomes; UP000005640; Chromosome 2.
Bgee; ENSG00000135903; -.
CleanEx; HS_PAX3; -.
ExpressionAtlas; P23760; baseline and differential.
Genevisible; P23760; HS.
GO; GO:0005654; C:nucleoplasm; IDA:HPA.
GO; GO:0071837; F:HMG box domain binding; IEA:Ensembl.
GO; GO:0043565; F:sequence-specific DNA binding; IDA:MGI.
GO; GO:0003700; F:transcription factor activity, sequence-specific DNA binding; TAS:ProtInc.
GO; GO:0009887; P:animal organ morphogenesis; TAS:ProtInc.
GO; GO:0006915; P:apoptotic process; TAS:ProtInc.
GO; GO:0007517; P:muscle organ development; IEA:UniProtKB-KW.
GO; GO:0007399; P:nervous system development; IEA:UniProtKB-KW.
GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; IDA:MGI.
GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:MGI.
GO; GO:0007605; P:sensory perception of sound; TAS:ProtInc.
GO; GO:0006366; P:transcription from RNA polymerase II promoter; TAS:ProtInc.
CDD; cd00086; homeodomain; 1.
CDD; cd00131; PAX; 1.
Gene3D; 1.10.10.10; -; 2.
InterPro; IPR009057; Homeobox-like_sf.
InterPro; IPR017970; Homeobox_CS.
InterPro; IPR001356; Homeobox_dom.
InterPro; IPR001523; Paired_dom.
InterPro; IPR022106; Pax7_C.
InterPro; IPR036388; WH-like_DNA-bd_sf.
Pfam; PF00046; Homeobox; 1.
Pfam; PF00292; PAX; 1.
Pfam; PF12360; Pax7; 1.
PRINTS; PR00027; PAIREDBOX.
SMART; SM00389; HOX; 1.
SMART; SM00351; PAX; 1.
SUPFAM; SSF46689; SSF46689; 2.
PROSITE; PS00027; HOMEOBOX_1; 1.
PROSITE; PS50071; HOMEOBOX_2; 1.
PROSITE; PS00034; PAIRED_1; 1.
PROSITE; PS51057; PAIRED_2; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Chromosomal rearrangement;
Complete proteome; Deafness; Developmental protein; Disease mutation;
DNA-binding; Homeobox; Myogenesis; Neurogenesis; Nucleus; Paired box;
Phosphoprotein; Polymorphism; Proto-oncogene; Reference proteome;
Transcription; Transcription regulation; Waardenburg syndrome.
CHAIN 1 479 Paired box protein Pax-3.
/FTId=PRO_0000050178.
DOMAIN 34 161 Paired. {ECO:0000255|PROSITE-
ProRule:PRU00381}.
DNA_BIND 219 278 Homeobox. {ECO:0000255|PROSITE-
ProRule:PRU00108}.
SITE 319 320 Breakpoint for translocation to form
PAX3-NCOA1 oncogene.
MOD_RES 201 201 Phosphoserine.
{ECO:0000269|PubMed:21440083}.
MOD_RES 205 205 Phosphoserine.
{ECO:0000269|PubMed:21440083}.
MOD_RES 209 209 Phosphoserine.
{ECO:0000269|PubMed:21440083}.
VAR_SEQ 108 108 Missing (in isoform 6).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_043634.
VAR_SEQ 196 215 ASAPQSDEGSDIDSEPDLPL -> GKRWRLGRRTCWVTWRA
SAS (in isoform Pax3A).
{ECO:0000303|PubMed:7545913}.
/FTId=VSP_002355.
VAR_SEQ 196 206 ASAPQSDEGSD -> GKALVSGVSSH (in isoform
Pax3B). {ECO:0000303|PubMed:15489334,
ECO:0000303|PubMed:7545913}.
/FTId=VSP_002357.
VAR_SEQ 207 479 Missing (in isoform Pax3B).
{ECO:0000303|PubMed:15489334,
ECO:0000303|PubMed:7545913}.
/FTId=VSP_002358.
VAR_SEQ 216 479 Missing (in isoform Pax3A).
{ECO:0000303|PubMed:7545913}.
/FTId=VSP_002356.
VAR_SEQ 393 479 MGLLTNHGGVPHQPQTDYALSPLTGGLEPTTTVSASCSQRL
DHMKSLDSLPTSQSYCPPTYSTTGYSMDPVTGYQYGQYGQS
KPWTF -> PFIISSQISRK (in isoform Pax3G).
{ECO:0000303|PubMed:14639621}.
/FTId=VSP_042004.
VAR_SEQ 393 479 MGLLTNHGGVPHQPQTDYALSPLTGGLEPTTTVSASCSQRL
DHMKSLDSLPTSQSYCPPTYSTTGYSMDPVTGYQYGQYGQS
KPWTF -> PFIISSQISLGFKSF (in isoform
Pax3H). {ECO:0000303|PubMed:14639621}.
/FTId=VSP_042005.
VAR_SEQ 475 479 KPWTF -> AFHYLKPDIA (in isoform 6 and
isoform 7). {ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_043635.
VAR_SEQ 475 479 KPWTF -> AFHYLKPDIAWFQILLNTFDKSSGEEEDLEQ
(in isoform Pax3E). {ECO:0000305}.
/FTId=VSP_044915.
VARIANT 45 45 F -> L (in WS1).
{ECO:0000269|PubMed:7981674}.
/FTId=VAR_003790.
VARIANT 47 47 N -> H (in WS3; dbSNP:rs104893653).
{ECO:0000269|PubMed:8447316}.
/FTId=VAR_003791.
VARIANT 47 47 N -> K (in CDHS; dbSNP:rs104893652).
{ECO:0000269|PubMed:8664898}.
/FTId=VAR_003792.
VARIANT 48 48 G -> R (in WS1).
{ECO:0000269|PubMed:8845842}.
/FTId=VAR_017533.
VARIANT 50 50 P -> L (in WS1; important hearing loss;
dbSNP:rs104893650).
{ECO:0000269|PubMed:1347149}.
/FTId=VAR_003793.
VARIANT 56 56 R -> L (in WS1; associated with
meningomyelocele; dbSNP:rs267606931).
{ECO:0000269|PubMed:8447316}.
/FTId=VAR_003794.
VARIANT 59 59 I -> F (in WS1).
{ECO:0000269|PubMed:9067759}.
/FTId=VAR_003795.
VARIANT 59 59 I -> N (in WS1). {ECO:0000269|Ref.35}.
/FTId=VAR_003796.
VARIANT 60 60 V -> M (in WS1).
{ECO:0000269|PubMed:12949970,
ECO:0000269|PubMed:8533800}.
/FTId=VAR_003797.
VARIANT 62 62 M -> V (in WS1).
{ECO:0000269|PubMed:7833953,
ECO:0000269|PubMed:9452070}.
/FTId=VAR_003798.
VARIANT 63 67 Missing (in WS1).
{ECO:0000269|PubMed:1347148}.
/FTId=VAR_003799.
VARIANT 73 73 S -> L (in WS1).
{ECO:0000269|PubMed:10779847}.
/FTId=VAR_013640.
VARIANT 78 78 V -> M (in WS1).
{ECO:0000269|PubMed:8589691}.
/FTId=VAR_017534.
VARIANT 80 80 H -> D (in WS1; results in decreased
transcriptional activation of MITF; no
effect on localization to nucleus; no
effect on interaction with SOX10).
{ECO:0000269|PubMed:20478267,
ECO:0000269|PubMed:21965087}.
/FTId=VAR_079619.
VARIANT 81 81 G -> A (in WS1; originally classified as
Waardenburg syndrome type 2;
dbSNP:rs587776586).
{ECO:0000269|PubMed:8490648,
ECO:0000269|PubMed:8589691}.
/FTId=VAR_003800.
VARIANT 84 84 S -> F (in WS3; dbSNP:rs104893651).
{ECO:0000269|PubMed:7726174}.
/FTId=VAR_003801.
VARIANT 85 85 K -> E (in WS1).
{ECO:0000269|PubMed:8533800}.
/FTId=VAR_003802.
VARIANT 90 90 Y -> H (in WS3; dbSNP:rs28939096).
{ECO:0000269|PubMed:12949970}.
/FTId=VAR_017535.
VARIANT 99 99 G -> D (in WS1).
{ECO:0000269|PubMed:7981674,
ECO:0000269|PubMed:8589691}.
/FTId=VAR_003803.
VARIANT 223 479 Missing (in WS1).
{ECO:0000269|PubMed:20478267,
ECO:0000269|PubMed:8845842}.
/FTId=VAR_079620.
VARIANT 234 234 L -> P (in WS1).
{ECO:0000269|PubMed:16971891,
ECO:0000269|PubMed:20478267}.
/FTId=VAR_079621.
VARIANT 238 238 F -> S (in WS1).
{ECO:0000269|PubMed:8533800}.
/FTId=VAR_003804.
VARIANT 265 265 V -> F (in WS1).
{ECO:0000269|PubMed:7825605}.
/FTId=VAR_003805.
VARIANT 266 266 W -> C (in WS1).
{ECO:0000269|PubMed:8589691}.
/FTId=VAR_017536.
VARIANT 270 270 R -> C (in WS1 and WS3).
{ECO:0000269|PubMed:8589691,
ECO:0000269|PubMed:8845842,
ECO:0000269|Ref.36}.
/FTId=VAR_013619.
VARIANT 271 271 R -> C (in WS1).
{ECO:0000269|PubMed:8589691}.
/FTId=VAR_017537.
VARIANT 271 271 R -> G (in WS1).
{ECO:0000269|PubMed:7825605}.
/FTId=VAR_003806.
VARIANT 271 271 R -> H (in WS1; associated with K-273 in
one family; dbSNP:rs774528745).
{ECO:0000269|PubMed:20478267,
ECO:0000269|PubMed:8589691,
ECO:0000269|PubMed:8845842}.
/FTId=VAR_017538.
VARIANT 273 273 R -> K (in WS1; associated with H-271 in
one family; unknown pathological
significance).
{ECO:0000269|PubMed:8845842}.
/FTId=VAR_017539.
VARIANT 315 315 T -> K (in dbSNP:rs2234675).
{ECO:0000269|PubMed:8589691,
ECO:0000269|PubMed:8845842,
ECO:0000269|PubMed:8863157,
ECO:0000269|PubMed:9584079}.
/FTId=VAR_003807.
VARIANT 391 391 Q -> H (in WS1).
{ECO:0000269|PubMed:9541113}.
/FTId=VAR_013641.
CONFLICT 358 358 S -> R (in Ref. 1; AAP13872/AAP13873).
{ECO:0000305}.
HELIX 228 240 {ECO:0000244|PDB:3CMY}.
HELIX 246 256 {ECO:0000244|PDB:3CMY}.
HELIX 260 276 {ECO:0000244|PDB:3CMY}.
SEQUENCE 479 AA; 52968 MW; 8AFCA674E3ACB4FE CRC64;
MTTLAGAVPR MMRPGPGQNY PRSGFPLEVS TPLGQGRVNQ LGGVFINGRP LPNHIRHKIV
EMAHHGIRPC VISRQLRVSH GCVSKILCRY QETGSIRPGA IGGSKPKQVT TPDVEKKIEE
YKRENPGMFS WEIRDKLLKD AVCDRNTVPS VSSISRILRS KFGKGEEEEA DLERKEAEES
EKKAKHSIDG ILSERASAPQ SDEGSDIDSE PDLPLKRKQR RSRTTFTAEQ LEELERAFER
THYPDIYTRE ELAQRAKLTE ARVQVWFSNR RARWRKQAGA NQLMAFNHLI PGGFPPTAMP
TLPTYQLSET SYQPTSIPQA VSDPSSTVHR PQPLPPSTVH QSTIPSNPDS SSAYCLPSTR
HGFSSYTDSF VPPSGPSNPM NPTIGNGLSP QVMGLLTNHG GVPHQPQTDY ALSPLTGGLE
PTTTVSASCS QRLDHMKSLD SLPTSQSYCP PTYSTTGYSM DPVTGYQYGQ YGQSKPWTF


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