PAX3_MOUSE
ID PAX3_MOUSE Reviewed; 479 AA.
AC P24610; Q3UFQ9; Q8BRE7; Q9CXI6;
DT 01-MAR-1992, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2005, sequence version 2.
DT 03-AUG-2022, entry version 193.
DE RecName: Full=Paired box protein Pax-3;
GN Name=Pax3; Synonyms=Pax-3;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=2022185; DOI=10.1002/j.1460-2075.1991.tb08054.x;
RA Goulding M.D., Chalepakis G., Deutsch U., Erselius J.R., Gruss P.;
RT "Pax-3, a novel murine DNA binding protein expressed during early
RT neurogenesis.";
RL EMBO J. 10:1135-1147(1991).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Head;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 219-260, DISEASE, AND FUNCTION.
RX PubMed=1682057; DOI=10.1016/0092-8674(91)90071-6;
RA Epstein D.J., Vekemans M., Gros P.;
RT "Splotch (Sp2H), a mutation affecting development of the mouse neural tube,
RT shows a deletion within the paired homeodomain of Pax-3.";
RL Cell 67:767-774(1991).
RN [4]
RP INTERACTION WITH TBX18.
RX PubMed=18644785; DOI=10.1074/jbc.m802723200;
RA Farin H.F., Mansouri A., Petry M., Kispert A.;
RT "T-box protein Tbx18 interacts with the paired box protein Pax3 in the
RT development of the paraxial mesoderm.";
RL J. Biol. Chem. 283:25372-25380(2008).
RN [5]
RP FUNCTION, AND INTERACTION WITH PAXBP1.
RX PubMed=22862948; DOI=10.1016/j.stem.2012.05.022;
RA Diao Y., Guo X., Li Y., Sun K., Lu L., Jiang L., Fu X., Zhu H., Sun H.,
RA Wang H., Wu Z.;
RT "Pax3/7BP is a Pax7- and Pax3-binding protein that regulates the
RT proliferation of muscle precursor cells by an epigenetic mechanism.";
RL Cell Stem Cell 11:231-241(2012).
RN [6]
RP VARIANT SPD ARG-42.
RX PubMed=8406487; DOI=10.1006/geno.1993.1333;
RA Vogan K.J., Epstein D.J., Trasler D.G., Gros P.;
RT "The splotch-delayed (Spd) mouse mutant carries a point mutation within the
RT paired box of the Pax-3 gene.";
RL Genomics 17:364-369(1993).
CC -!- FUNCTION: Transcription factor that may regulate cell proliferation,
CC migration and apoptosis. Involved in neural development and myogenesis.
CC Transcriptional activator of MITF, acting synergistically with SOX10
CC (By similarity). {ECO:0000250|UniProtKB:P23760,
CC ECO:0000269|PubMed:1682057, ECO:0000269|PubMed:22862948}.
CC -!- SUBUNIT: Can bind to DNA as homodimer or a heterodimer with PAX7.
CC Interacts with DAXX. Interacts with PAXBP1; the interaction links PAX3
CC to a WDR5-containing histone methyltransferase complex. Interacts with
CC TBX18. Interacts with SOX10 (By similarity).
CC {ECO:0000250|UniProtKB:P23760, ECO:0000269|PubMed:18644785,
CC ECO:0000269|PubMed:22862948}.
CC -!- INTERACTION:
CC P24610; P13405: Rb1; NbExp=3; IntAct=EBI-1208116, EBI-971782;
CC P24610; P55036: PSMD4; Xeno; NbExp=3; IntAct=EBI-1208116, EBI-359318;
CC P24610; P54727: RAD23B; Xeno; NbExp=4; IntAct=EBI-1208116, EBI-954531;
CC P24610; P28749: RBL1; Xeno; NbExp=3; IntAct=EBI-1208116, EBI-971402;
CC P24610; Q08999: RBL2; Xeno; NbExp=3; IntAct=EBI-1208116, EBI-971439;
CC P24610; P0CG47: UBB; Xeno; NbExp=2; IntAct=EBI-1208116, EBI-413034;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P23760}.
CC -!- DEVELOPMENTAL STAGE: Expressed during early neurogenesis.
CC -!- DISEASE: Note=The Splotch (Sp) mouse mutant displays defects in neural
CC tube closure in the form of exencephaly and spina bifida. The splotch-
CC delayed (Spd) phenotype is less severe than the other Sp alleles.
CC {ECO:0000269|PubMed:1682057}.
CC -!- SIMILARITY: Belongs to the paired homeobox family. {ECO:0000305}.
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DR EMBL; X59358; CAA42008.1; -; mRNA.
DR EMBL; AK014337; BAB29280.1; -; mRNA.
DR EMBL; AK045018; BAC32185.1; -; mRNA.
DR EMBL; AK148354; BAE28501.1; -; mRNA.
DR EMBL; S66429; AAB20359.1; -; mRNA.
DR EMBL; S66433; AAB20360.1; -; mRNA.
DR CCDS; CCDS15082.1; -.
DR PIR; S15031; S15031.
DR RefSeq; NP_001152992.1; NM_001159520.1.
DR RefSeq; NP_032807.3; NM_008781.4.
DR AlphaFoldDB; P24610; -.
DR SMR; P24610; -.
DR BioGRID; 202030; 21.
DR CORUM; P24610; -.
DR IntAct; P24610; 9.
DR MINT; P24610; -.
DR STRING; 10090.ENSMUSP00000004994; -.
DR iPTMnet; P24610; -.
DR PhosphoSitePlus; P24610; -.
DR MaxQB; P24610; -.
DR PaxDb; P24610; -.
DR PeptideAtlas; P24610; -.
DR PRIDE; P24610; -.
DR Antibodypedia; 4602; 547 antibodies from 45 providers.
DR DNASU; 18505; -.
DR Ensembl; ENSMUST00000087086; ENSMUSP00000084320; ENSMUSG00000004872.
DR GeneID; 18505; -.
DR KEGG; mmu:18505; -.
DR UCSC; uc007bqb.2; mouse.
DR CTD; 5077; -.
DR MGI; MGI:97487; Pax3.
DR VEuPathDB; HostDB:ENSMUSG00000004872; -.
DR eggNOG; KOG0849; Eukaryota.
DR GeneTree; ENSGT00940000156504; -.
DR HOGENOM; CLU_019281_8_0_1; -.
DR InParanoid; P24610; -.
DR OrthoDB; 1126858at2759; -.
DR PhylomeDB; P24610; -.
DR Reactome; R-MMU-3214847; HATs acetylate histones.
DR BioGRID-ORCS; 18505; 2 hits in 74 CRISPR screens.
DR ChiTaRS; Pax3; mouse.
DR PRO; PR:P24610; -.
DR Proteomes; UP000000589; Chromosome 1.
DR RNAct; P24610; protein.
DR Bgee; ENSMUSG00000004872; Expressed in trunk somite and 143 other tissues.
DR ExpressionAtlas; P24610; baseline and differential.
DR Genevisible; P24610; MM.
DR GO; GO:0005654; C:nucleoplasm; ISO:MGI.
DR GO; GO:0005634; C:nucleus; IDA:MGI.
DR GO; GO:0005667; C:transcription regulator complex; TAS:MGI.
DR GO; GO:0003682; F:chromatin binding; IDA:MGI.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; TAS:MGI.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IDA:MGI.
DR GO; GO:0071837; F:HMG box domain binding; ISO:MGI.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:MGI.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; ISO:MGI.
DR GO; GO:0001221; F:transcription coregulator binding; IPI:ARUK-UCL.
DR GO; GO:0048856; P:anatomical structure development; IBA:GO_Central.
DR GO; GO:0055007; P:cardiac muscle cell differentiation; NAS:UniProtKB.
DR GO; GO:0016477; P:cell migration; IMP:MGI.
DR GO; GO:0008283; P:cell population proliferation; IMP:MGI.
DR GO; GO:0048066; P:developmental pigmentation; IMP:MGI.
DR GO; GO:0007507; P:heart development; IMP:MGI.
DR GO; GO:0060594; P:mammary gland specification; IMP:MGI.
DR GO; GO:0007517; P:muscle organ development; IMP:MGI.
DR GO; GO:0051451; P:myoblast migration; IMP:MGI.
DR GO; GO:0051450; P:myoblast proliferation; IMP:MGI.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IGI:MGI.
DR GO; GO:0001755; P:neural crest cell migration; IMP:MGI.
DR GO; GO:0001843; P:neural tube closure; IMP:MGI.
DR GO; GO:0021915; P:neural tube development; IGI:MGI.
DR GO; GO:0048663; P:neuron fate commitment; IGI:MGI.
DR GO; GO:2000648; P:positive regulation of stem cell proliferation; IMP:MGI.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:MGI.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; ISO:MGI.
DR GO; GO:0014807; P:regulation of somitogenesis; IMP:MGI.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0035914; P:skeletal muscle cell differentiation; NAS:UniProtKB.
DR GO; GO:0060538; P:skeletal muscle organ development; IMP:MGI.
DR GO; GO:0021527; P:spinal cord association neuron differentiation; IGI:MGI.
DR GO; GO:0072089; P:stem cell proliferation; IMP:MGI.
DR CDD; cd00086; homeodomain; 1.
DR CDD; cd00131; PAX; 1.
DR Gene3D; 1.10.10.10; -; 2.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR043182; PAIRED_DNA-bd_dom.
DR InterPro; IPR001523; Paired_dom.
DR InterPro; IPR022106; Pax7_C.
DR InterPro; IPR043565; PAX_fam.
DR InterPro; IPR036388; WH-like_DNA-bd_sf.
DR PANTHER; PTHR45636; PTHR45636; 1.
DR Pfam; PF00046; Homeodomain; 1.
DR Pfam; PF00292; PAX; 1.
DR Pfam; PF12360; Pax7; 1.
DR PRINTS; PR00027; PAIREDBOX.
DR SMART; SM00389; HOX; 1.
DR SMART; SM00351; PAX; 1.
DR SUPFAM; SSF46689; SSF46689; 2.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
DR PROSITE; PS00034; PAIRED_1; 1.
DR PROSITE; PS51057; PAIRED_2; 1.
PE 1: Evidence at protein level;
KW Developmental protein; Disease variant; DNA-binding; Homeobox; Myogenesis;
KW Neurogenesis; Nucleus; Paired box; Phosphoprotein; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..479
FT /note="Paired box protein Pax-3"
FT /id="PRO_0000050179"
FT DNA_BIND 34..161
FT /note="Paired"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT DNA_BIND 219..278
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 1..21
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 37..93
FT /note="PAI subdomain"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT REGION 113..161
FT /note="RED subdomain"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT REGION 165..228
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 309..351
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 165..190
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 209..228
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 201
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P23760"
FT MOD_RES 205
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P23760"
FT MOD_RES 209
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P23760"
FT VARIANT 42
FT /note="G -> R (in Spd)"
FT /evidence="ECO:0000269|PubMed:8406487"
FT CONFLICT 140
FT /note="D -> G (in Ref. 2; BAC32185)"
FT /evidence="ECO:0000305"
FT CONFLICT 310
FT /note="T -> H (in Ref. 1; CAA42008)"
FT /evidence="ECO:0000305"
SQ 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
