SOX3_MOUSE
ID SOX3_MOUSE Reviewed; 375 AA.
AC P53784; Q80XF1;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT 27-JUL-2011, sequence version 2.
DT 25-MAY-2022, entry version 140.
DE RecName: Full=Transcription factor SOX-3;
GN Name=Sox3; Synonyms=Sox-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 [GENOMIC DNA].
RC STRAIN=129;
RX PubMed=8625802; DOI=10.1242/dev.122.2.509;
RA Collignon J., Sockanathan S., Hacker A., Cohen-Tannoudji M., Norris D.,
RA Rastan S., Stevanovic M., Goodfellow P.N., Lovell-Badge R.;
RT "A comparison of the properties of Sox-3 with Sry and two related genes,
RT Sox-1 and Sox-2.";
RL Development 122:509-520(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND TISSUE SPECIFICITY.
RC STRAIN=129/Sv;
RX PubMed=12748963; DOI=10.1002/gene.10193;
RA Brunelli S., Silva Casey E., Bell D., Harland R., Lovell-Badge R.;
RT "Expression of Sox3 throughout the developing central nervous system is
RT dependent on the combined action of discrete, evolutionarily conserved
RT regulatory elements.";
RL Genesis 36:12-24(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC STRAIN=129/Ola;
RX PubMed=15456859; DOI=10.1128/mcb.24.20.8834-8846.2004;
RA Tanaka S., Kamachi Y., Tanouchi A., Hamada H., Jing N., Kondoh H.;
RT "Interplay of SOX and POU factors in regulation of the nestin gene in
RT neural primordial cells.";
RL Mol. Cell. Biol. 24:8834-8846(2004).
RN [4]
RP FUNCTION.
RX PubMed=14981518; DOI=10.1038/ng1309;
RA Rizzoti K., Brunelli S., Carmignac D., Thomas P.Q., Robinson I.C.,
RA Lovell-Badge R.;
RT "SOX3 is required during the formation of the hypothalamo-pituitary axis.";
RL Nat. Genet. 36:247-255(2004).
RN [5]
RP TISSUE SPECIFICITY.
RX PubMed=16167084; DOI=10.1172/jci24156;
RA Bowl M.R., Nesbit M.A., Harding B., Levy E., Jefferson A., Volpi E.,
RA Rizzoti K., Lovell-Badge R., Schlessinger D., Whyte M.P., Thakker R.V.;
RT "An interstitial deletion-insertion involving chromosomes 2p25.3 and
RT Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.";
RL J. Clin. Invest. 115:2822-2831(2005).
RN [6]
RP FUNCTION, AND INTERACTION WITH SOX2 AND FGFR1.
RX PubMed=17728342; DOI=10.1242/dev.007906;
RA Rizzoti K., Lovell-Badge R.;
RT "SOX3 activity during pharyngeal segmentation is required for craniofacial
RT morphogenesis.";
RL Development 134:3437-3448(2007).
RN [7]
RP FUNCTION.
RX PubMed=21183788; DOI=10.1172/jci42580;
RA Sutton E., Hughes J., White S., Sekido R., Tan J., Arboleda V., Rogers N.,
RA Knower K., Rowley L., Eyre H., Rizzoti K., McAninch D., Goncalves J.,
RA Slee J., Turbitt E., Bruno D., Bengtsson H., Harley V., Vilain E.,
RA Sinclair A., Lovell-Badge R., Thomas P.;
RT "Identification of SOX3 as an XX male sex reversal gene in mice and
RT humans.";
RL J. Clin. Invest. 121:328-341(2011).
CC -!- FUNCTION: Transcription factor required during the formation of the
CC hypothalamo-pituitary axis. May function as a switch in neuronal
CC development. Keeps neural cells undifferentiated by counteracting the
CC activity of proneural proteins and suppresses neuronal differentiation.
CC Required also within the pharyngeal epithelia for craniofacial
CC morphogenesis. Controls a genetic switch in male development. Is
CC necessary for initiating male sex determination by directing the
CC development of supporting cell precursors (pre-Sertoli cells) as
CC Sertoli rather than granulosa cells. {ECO:0000269|PubMed:14981518,
CC ECO:0000269|PubMed:17728342, ECO:0000269|PubMed:21183788}.
CC -!- SUBUNIT: Interacts with SOX2 and FGFR1. {ECO:0000269|PubMed:17728342}.
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- TISSUE SPECIFICITY: Expressed in developing parathyroids of mouse
CC embryos between 10.5 and 15.5 days post-coitum (PubMed:16167084).
CC Expressed in the developing central nervous system (PubMed:12748963).
CC Expressed in the developing urogenital ridge.
CC {ECO:0000269|PubMed:12748963, ECO:0000269|PubMed:16167084}.
CC -!- DOMAIN: The 9aaTAD motif is a transactivation domain present in a large
CC number of yeast and animal transcription factors.
CC {ECO:0000250|UniProtKB:P41225}.
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DR EMBL; X94125; CAA63845.1; -; Genomic_DNA.
DR EMBL; AF434675; AAL40744.1; -; Genomic_DNA.
DR EMBL; AB108674; BAC75669.1; -; mRNA.
DR PIR; S10948; S10948.
DR AlphaFoldDB; P53784; -.
DR SMR; P53784; -.
DR STRING; 10090.ENSMUSP00000115237; -.
DR iPTMnet; P53784; -.
DR PhosphoSitePlus; P53784; -.
DR MaxQB; P53784; -.
DR PaxDb; P53784; -.
DR PRIDE; P53784; -.
DR ProteomicsDB; 261115; -.
DR MGI; MGI:98365; Sox3.
DR eggNOG; KOG0527; Eukaryota.
DR InParanoid; P53784; -.
DR Reactome; R-MMU-3769402; Deactivation of the beta-catenin transactivating complex.
DR ChiTaRS; Sox3; mouse.
DR PRO; PR:P53784; -.
DR Proteomes; UP000000589; Unplaced.
DR RNAct; P53784; protein.
DR GO; GO:0005654; C:nucleoplasm; ISO:MGI.
DR GO; GO:0003677; F:DNA binding; IDA:MGI.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; ISO:MGI.
DR GO; GO:0009653; P:anatomical structure morphogenesis; IBA:GO_Central.
DR GO; GO:0009887; P:animal organ morphogenesis; IMP:MGI.
DR GO; GO:0030154; P:cell differentiation; IBA:GO_Central.
DR GO; GO:0060324; P:face development; IMP:UniProtKB.
DR GO; GO:0030900; P:forebrain development; IMP:MGI.
DR GO; GO:0021854; P:hypothalamus development; IMP:UniProtKB.
DR GO; GO:0045665; P:negative regulation of neuron differentiation; ISS:UniProtKB.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0021983; P:pituitary gland development; IMP:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IBA:GO_Central.
DR GO; GO:0007423; P:sensory organ development; IMP:UniProtKB.
DR GO; GO:0060009; P:Sertoli cell development; IEP:UniProtKB.
DR GO; GO:0007530; P:sex determination; IMP:UniProtKB.
DR GO; GO:0048515; P:spermatid differentiation; IMP:MGI.
DR Gene3D; 1.10.30.10; -; 1.
DR InterPro; IPR009071; HMG_box_dom.
DR InterPro; IPR036910; HMG_box_dom_sf.
DR InterPro; IPR029550; SOX-3.
DR InterPro; IPR022097; SOX_fam.
DR PANTHER; PTHR10270:SF111; PTHR10270:SF111; 1.
DR Pfam; PF00505; HMG_box; 1.
DR Pfam; PF12336; SOXp; 1.
DR SMART; SM00398; HMG; 1.
DR SUPFAM; SSF47095; SSF47095; 1.
DR PROSITE; PS50118; HMG_BOX_2; 1.
PE 1: Evidence at protein level;
KW Developmental protein; DNA-binding; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..375
FT /note="Transcription factor SOX-3"
FT /id="PRO_0000048721"
FT DNA_BIND 69..137
FT /note="HMG box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00267"
FT REGION 1..69
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 325..336
FT /note="9aaTAD"
FT /evidence="ECO:0000250|UniProtKB:P41225"
FT CONFLICT 160
FT /note="L -> P (in Ref. 1; CAA63845 and 2; AAL40744)"
FT /evidence="ECO:0000305"
FT CONFLICT 315
FT /note="A -> R (in Ref. 1; CAA63845 and 2; AAL40744)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 375 AA; 37789 MW; 3E117E20D40BFE34 CRC64;
MYSLLETELK NPVGPPTPAA GTGVPAAPGA AGKSGANPAG GANAGNGGSG GANGGGGGGG
GGGSDQDRVK RPMNAFMVWS RGQRRKMALE NPKMHNSEIS KRLGADWKLL TDAEKRPFID
EAKRLRAVHM KEYPDYKYRP RRKTKTLLKK DKYSLPGGLL PPGAAAAAAA AAAAAAASSP
VGVGQRLDTY THVNGWANGA YSLVQEQLGY AQPPSMSSPP PPPALPQMHR YDMAGLQYSP
MMPPGAQSYM NAAAAAAAAS GYGGMAPSAA AAAAAAYGQQ PATAAAAAAA AAAMSLGPMG
SVVKSEPSSP PPAIASHSQR ACLGDLRDMI SMYLPPGGDA ADAASPLPGG RLHGVHQHYQ
GAGTAVNGTV PLTHI
