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Paired box protein Pax-3

 PAX3_MOUSE              Reviewed;         479 AA.
P24610; Q3UFQ9; Q8BRE7; Q9CXI6;
01-MAR-1992, integrated into UniProtKB/Swiss-Prot.
01-MAR-2005, sequence version 2.
22-NOV-2017, entry version 167.
RecName: Full=Paired box protein Pax-3;
Name=Pax3; Synonyms=Pax-3;
Mus musculus (Mouse).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
Muroidea; Muridae; Murinae; Mus; Mus.
NCBI_TaxID=10090;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=2022185;
Goulding M.D., Chalepakis G., Deutsch U., Erselius J.R., Gruss P.;
"Pax-3, a novel murine DNA binding protein expressed during early
neurogenesis.";
EMBO J. 10:1135-1147(1991).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
STRAIN=C57BL/6J; TISSUE=Head;
PubMed=16141072; DOI=10.1126/science.1112014;
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M.,
Davis M.J., Wilming L.G., Aidinis V., Allen J.E.,
Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L.,
Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M.,
Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R.,
Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G.,
di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G.,
Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M.,
Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N.,
Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T.,
Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H.,
Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K.,
Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J.,
Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L.,
Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K.,
Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P.,
Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O.,
Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G.,
Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M.,
Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B.,
Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K.,
Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A.,
Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K.,
Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C.,
Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J.,
Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y.,
Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T.,
Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N.,
Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N.,
Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S.,
Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J.,
Hayashizaki Y.;
"The transcriptional landscape of the mammalian genome.";
Science 309:1559-1563(2005).
[3]
NUCLEOTIDE SEQUENCE [MRNA] OF 219-260, DISEASE, AND FUNCTION.
PubMed=1682057; DOI=10.1016/0092-8674(91)90071-6;
Epstein D.J., Vekemans M., Gros P.;
"Splotch (Sp2H), a mutation affecting development of the mouse neural
tube, shows a deletion within the paired homeodomain of Pax-3.";
Cell 67:767-774(1991).
[4]
INTERACTION WITH TBX18.
PubMed=18644785; DOI=10.1074/jbc.M802723200;
Farin H.F., Mansouri A., Petry M., Kispert A.;
"T-box protein Tbx18 interacts with the paired box protein Pax3 in the
development of the paraxial mesoderm.";
J. Biol. Chem. 283:25372-25380(2008).
[5]
FUNCTION, AND INTERACTION WITH PAXBP1.
PubMed=22862948; DOI=10.1016/j.stem.2012.05.022;
Diao Y., Guo X., Li Y., Sun K., Lu L., Jiang L., Fu X., Zhu H.,
Sun H., Wang H., Wu Z.;
"Pax3/7BP is a Pax7- and Pax3-binding protein that regulates the
proliferation of muscle precursor cells by an epigenetic mechanism.";
Cell Stem Cell 11:231-241(2012).
[6]
VARIANT SPD ARG-42.
PubMed=8406487; DOI=10.1006/geno.1993.1333;
Vogan K.J., Epstein D.J., Trasler D.G., Gros P.;
"The splotch-delayed (Spd) mouse mutant carries a point mutation
within the paired box of the Pax-3 gene.";
Genomics 17:364-369(1993).
-!- 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 (By similarity).
{ECO:0000250|UniProtKB:P23760, ECO:0000269|PubMed:1682057,
ECO:0000269|PubMed:22862948}.
-!- SUBUNIT: Can bind to DNA as homodimer or a heterodimer with PAX7.
Interacts with DAXX. Interacts with PAXBP1; the interaction links
PAX3 to a WDR5-containing histone methyltransferase complex.
Interacts with TBX18. Interacts with SOX10 (By similarity).
{ECO:0000250|UniProtKB:P23760, ECO:0000269|PubMed:18644785,
ECO:0000269|PubMed:22862948}.
-!- INTERACTION:
P55036:PSMD4 (xeno); NbExp=3; IntAct=EBI-1208116, EBI-359318;
P54727:RAD23B (xeno); NbExp=4; IntAct=EBI-1208116, EBI-954531;
P13405:Rb1; NbExp=3; IntAct=EBI-1208116, EBI-971782;
P28749:RBL1 (xeno); NbExp=3; IntAct=EBI-1208116, EBI-971402;
Q08999:RBL2 (xeno); NbExp=3; IntAct=EBI-1208116, EBI-971439;
P0CG47:UBB (xeno); NbExp=2; IntAct=EBI-1208116, EBI-413034;
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P23760}.
-!- DEVELOPMENTAL STAGE: Expressed during early neurogenesis.
-!- DISEASE: Note=The Splotch (Sp) mouse mutant displays defects in
neural tube closure in the form of exencephaly and spina bifida.
The splotch-delayed (Spd) phenotype is less severe than the other
Sp alleles. {ECO:0000269|PubMed:1682057}.
-!- SIMILARITY: Belongs to the paired homeobox family. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; X59358; CAA42008.1; -; mRNA.
EMBL; AK014337; BAB29280.1; -; mRNA.
EMBL; AK045018; BAC32185.1; -; mRNA.
EMBL; AK148354; BAE28501.1; -; mRNA.
EMBL; S66429; AAB20359.1; -; mRNA.
EMBL; S66433; AAB20360.1; -; mRNA.
CCDS; CCDS15082.1; -.
PIR; S15031; S15031.
RefSeq; NP_001152992.1; NM_001159520.1.
RefSeq; NP_032807.3; NM_008781.4.
UniGene; Mm.1371; -.
ProteinModelPortal; P24610; -.
SMR; P24610; -.
BioGrid; 202030; 21.
CORUM; P24610; -.
IntAct; P24610; 7.
MINT; MINT-4653013; -.
STRING; 10090.ENSMUSP00000004994; -.
iPTMnet; P24610; -.
PhosphoSitePlus; P24610; -.
MaxQB; P24610; -.
PaxDb; P24610; -.
PeptideAtlas; P24610; -.
PRIDE; P24610; -.
Ensembl; ENSMUST00000087086; ENSMUSP00000084320; ENSMUSG00000004872.
GeneID; 18505; -.
KEGG; mmu:18505; -.
UCSC; uc007bqb.2; mouse.
CTD; 5077; -.
MGI; MGI:97487; Pax3.
eggNOG; KOG0849; Eukaryota.
eggNOG; ENOG410XS01; LUCA.
GeneTree; ENSGT00680000099553; -.
HOGENOM; HOG000230939; -.
HOVERGEN; HBG009115; -.
InParanoid; P24610; -.
KO; K09381; -.
PhylomeDB; P24610; -.
Reactome; R-MMU-3214847; HATs acetylate histones.
ChiTaRS; Pax3; mouse.
PRO; PR:P24610; -.
Proteomes; UP000000589; Chromosome 1.
Bgee; ENSMUSG00000004872; -.
CleanEx; MM_PAX3; -.
ExpressionAtlas; P24610; baseline and differential.
Genevisible; P24610; MM.
GO; GO:0005654; C:nucleoplasm; ISO:MGI.
GO; GO:0005634; C:nucleus; IDA:MGI.
GO; GO:0005667; C:transcription factor complex; TAS:MGI.
GO; GO:0003682; F:chromatin binding; IDA:MGI.
GO; GO:0043565; F:sequence-specific DNA binding; IDA:MGI.
GO; GO:0003705; F:transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding; IDA:MGI.
GO; GO:0003700; F:transcription factor activity, sequence-specific DNA binding; TAS:MGI.
GO; GO:0055007; P:cardiac muscle cell differentiation; NAS:UniProtKB.
GO; GO:0016477; P:cell migration; IMP:MGI.
GO; GO:0008283; P:cell proliferation; IMP:MGI.
GO; GO:0048066; P:developmental pigmentation; IMP:MGI.
GO; GO:0007507; P:heart development; IMP:MGI.
GO; GO:0060594; P:mammary gland specification; IMP:MGI.
GO; GO:0007517; P:muscle organ development; IMP:MGI.
GO; GO:0000122; P:negative regulation of transcription from RNA polymerase II promoter; IGI:MGI.
GO; GO:0001755; P:neural crest cell migration; IMP:MGI.
GO; GO:0001843; P:neural tube closure; IMP:MGI.
GO; GO:0021915; P:neural tube development; IGI:MGI.
GO; GO:0048663; P:neuron fate commitment; IGI:MGI.
GO; GO:0008284; P:positive regulation of cell proliferation; IMP:MGI.
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; ISO:MGI.
GO; GO:0014807; P:regulation of somitogenesis; IMP:MGI.
GO; GO:0035914; P:skeletal muscle cell differentiation; NAS:UniProtKB.
GO; GO:0060538; P:skeletal muscle organ development; IMP:MGI.
GO; GO:0021527; P:spinal cord association neuron differentiation; IGI:MGI.
GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
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;
Complete proteome; Developmental protein; Disease mutation;
DNA-binding; Homeobox; Myogenesis; Neurogenesis; Nucleus; Paired box;
Phosphoprotein; Reference proteome; Transcription;
Transcription regulation.
CHAIN 1 479 Paired box protein Pax-3.
/FTId=PRO_0000050179.
DOMAIN 34 161 Paired. {ECO:0000255|PROSITE-
ProRule:PRU00381}.
DNA_BIND 219 278 Homeobox. {ECO:0000255|PROSITE-
ProRule:PRU00108}.
MOD_RES 201 201 Phosphoserine.
{ECO:0000250|UniProtKB:P23760}.
MOD_RES 205 205 Phosphoserine.
{ECO:0000250|UniProtKB:P23760}.
MOD_RES 209 209 Phosphoserine.
{ECO:0000250|UniProtKB:P23760}.
VARIANT 42 42 G -> R (in Spd).
{ECO:0000269|PubMed:8406487}.
CONFLICT 140 140 D -> G (in Ref. 2; BAC32185).
{ECO:0000305}.
CONFLICT 310 310 T -> H (in Ref. 1; CAA42008).
{ECO:0000305}.
SEQUENCE 479 AA; 52949 MW; 8806E551FFB755A0 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 QSTIPSNADS SSAYCLPSTR
HGFSSYTDSF VPPSGPSNPM NPTIGNGLSP QVMGLLTNHG GVPHQPQTDY ALSPLTGGLE
PTTTVSASCS QRLEHMKNVD SLPTSQPYCP PTYSTAGYSM DPVTGYQYGQ YGQSKPWTF


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