SOX10_MOUSE
ID SOX10_MOUSE Reviewed; 466 AA.
AC Q04888; O08518; O09141; O54856; P70416;
DT 01-JUN-1994, integrated into UniProtKB/Swiss-Prot.
DT 15-JUL-1999, sequence version 2.
DT 03-AUG-2022, entry version 187.
DE RecName: Full=Transcription factor SOX-10;
DE AltName: Full=Protein SOX-21;
DE AltName: Full=Transcription factor SOX-M;
GN Name=Sox10; Synonyms=Sox-10, Sox21;
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], AND DISRUPTION PHENOTYPE.
RC STRAIN=C57BL/6J;
RX PubMed=9425902; DOI=10.1038/ng0198-60;
RA Southard-Smith E.M., Kos L., Pavan W.J.;
RT "Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse
RT model.";
RL Nat. Genet. 18:60-64(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], DISRUPTION PHENOTYPE, AND SUBCELLULAR LOCATION.
RC STRAIN=C57BL/6J;
RX PubMed=9560246; DOI=10.1073/pnas.95.9.5161;
RA Herbarth B., Pingault V., Bondurand N., Kuhlbrodt K., Hermans-Borgmeyer I.,
RA Puliti A., Lemort N., Goossens M., Wegner M.;
RT "Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse
RT model for human Hirschsprung disease.";
RL Proc. Natl. Acad. Sci. U.S.A. 95:5161-5165(1998).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=9760192; DOI=10.1007/s004390050793;
RA Pusch C., Hustert E., Pfeifer D., Sudbeck P., Kist R., Roe B., Wang Z.,
RA Balling R., Blin N., Scherer G.;
RT "The SOX10/Sox10 gene from human and mouse: sequence, expression, and
RT transactivation by the encoded HMG domain transcription factor.";
RL Hum. Genet. 103:115-123(1998).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC STRAIN=C3H/HeN;
RX PubMed=9027483; DOI=10.1006/geno.1996.4483;
RA Tani M., Shindo-Okada N., Hashimoto Y., Shiroishi T., Takenoshita S.,
RA Nagamachi Y., Yokota J.;
RT "Isolation of a novel Sry-related gene that is expressed in high-metastatic
RT K-1735 murine melanoma cells.";
RL Genomics 39:30-37(1997).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J, and FVB/N; TISSUE=Mammary gland, and Salivary gland;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 112-167.
RX PubMed=8441686; DOI=10.1093/nar/21.3.744;
RA Wright E.M., Snopek B., Koopman P.;
RT "Seven new members of the Sox gene family expressed during mouse
RT development.";
RL Nucleic Acids Res. 21:744-744(1993).
RN [7]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 114-167.
RC STRAIN=Swiss Webster; TISSUE=Embryonic tooth;
RX PubMed=8921394; DOI=10.1006/geno.1996.0548;
RA Stock D.W., Buchanan A.V., Zhao Z., Weiss K.M.;
RT "Numerous members of the Sox family of HMG box-containing genes are
RT expressed in developing mouse teeth.";
RL Genomics 37:234-237(1996).
RN [8]
RP SUBCELLULAR LOCATION, AND INTERACTION WITH ARMCX3.
RX PubMed=19304657; DOI=10.1074/jbc.m901177200;
RA Mou Z., Tapper A.R., Gardner P.D.;
RT "The armadillo repeat-containing protein, ARMCX3, physically and
RT functionally interacts with the developmental regulatory factor Sox10.";
RL J. Biol. Chem. 284:13629-13640(2009).
RN [9]
RP FUNCTION.
RX PubMed=24204311; DOI=10.1371/journal.pgen.1003907;
RA Hornig J., Froeb F., Vogl M.R., Hermans-Borgmeyer I., Tamm E.R., Wegner M.;
RT "The transcription factors Sox10 and Myrf define an essential regulatory
RT network module in differentiating oligodendrocytes.";
RL PLoS Genet. 9:E1003907-E1003907(2013).
RN [10]
RP FUNCTION, AND SUBUNIT.
RX PubMed=27532821; DOI=10.1002/glia.23044;
RA Muth K.N., Piefke S., Weider M., Sock E., Hermans-Borgmeyer I., Wegner M.,
RA Kuespert M.;
RT "The dual-specificity phosphatase Dusp15 is regulated by Sox10 and Myrf in
RT myelinating oligodendrocytes.";
RL Glia 64:2120-2132(2016).
RN [11]
RP DEVELOPMENTAL STAGE, AND TISSUE SPECIFICITY.
RX PubMed=26525805; DOI=10.1111/jnc.13414;
RA Baroti T., Schillinger A., Wegner M., Stolt C.C.;
RT "Sox13 functionally complements the related Sox5 and Sox6 as important
RT developmental modulators in mouse spinal cord oligodendrocytes.";
RL J. Neurochem. 136:316-328(2016).
CC -!- FUNCTION: Transcription factor that plays a central role in developing
CC and mature glia (PubMed:24204311, PubMed:27532821). Specifically
CC activates expression of myelin genes, during oligodendrocyte (OL)
CC maturation, such as DUSP15 and MYRF, thereby playing a central role in
CC oligodendrocyte maturation and CNS myelination (PubMed:24204311,
CC PubMed:27532821). Once induced, MYRF cooperates with SOX10 to implement
CC the myelination program (PubMed:24204311). Transcriptional activator of
CC MITF, acting synergistically with PAX3 (By similarity). Transcriptional
CC activator of MBP, via binding to the gene promoter (By similarity).
CC {ECO:0000250|UniProtKB:O55170, ECO:0000250|UniProtKB:P56693,
CC ECO:0000269|PubMed:24204311, ECO:0000269|PubMed:27532821}.
CC -!- SUBUNIT: Monomer (PubMed:27532821). Interacts with Armcx3 at the
CC mitochondrial outer membrane surface (PubMed:19304657). Interacts with
CC PAX3 (By similarity). {ECO:0000250|UniProtKB:P56693,
CC ECO:0000269|PubMed:19304657, ECO:0000269|PubMed:27532821}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19304657}. Nucleus
CC {ECO:0000269|PubMed:19304657, ECO:0000269|PubMed:9560246}.
CC Mitochondrion outer membrane; Peripheral membrane protein; Cytoplasmic
CC side {ECO:0000269|PubMed:19304657}.
CC -!- TISSUE SPECIFICITY: Expressed in oligodendroglia of the spinal tube (at
CC protein level). {ECO:0000269|PubMed:26525805}.
CC -!- DEVELOPMENTAL STAGE: Expressed in the motor neuron progenitor domain of
CC the spinal tube from 11.5 dpc to postnatal day 6.
CC {ECO:0000269|PubMed:26525805}.
CC -!- DOMAIN: The transactivation domains TAM and TAC (for transactivation
CC domain in the middle and at the C-terminus, respectively) are required
CC to contact transcriptional coactivators and basal transcriptional
CC machinery components and thereby induce gene transactivation.
CC {ECO:0000250|UniProtKB:P48436}.
CC -!- DISRUPTION PHENOTYPE: Defects in Sox10 are the cause of the mouse
CC mutant dominant megacolon (dom). While dom/+ heterozygous mice display
CC regional deficiencies of neural crest-derived enteric ganglia in the
CC distal colon, dom/dom homozygous animals are embryonic lethal.
CC {ECO:0000269|PubMed:9425902, ECO:0000269|PubMed:9560246}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAB49282.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAB99738.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF017182; AAB99738.1; ALT_INIT; mRNA.
DR EMBL; AF047043; AAC24564.1; -; mRNA.
DR EMBL; U66141; AAB49282.1; ALT_FRAME; mRNA.
DR EMBL; BC018551; AAH18551.1; -; mRNA.
DR EMBL; BC023356; AAH23356.1; -; mRNA.
DR EMBL; BC025171; AAH25171.1; -; mRNA.
DR EMBL; Z18959; CAA79484.1; -; mRNA.
DR EMBL; U70441; AAC52859.1; -; mRNA.
DR CCDS; CCDS49668.1; -.
DR PIR; S30242; S30242.
DR RefSeq; NP_035567.1; NM_011437.1.
DR AlphaFoldDB; Q04888; -.
DR SMR; Q04888; -.
DR BioGRID; 203397; 2.
DR STRING; 10090.ENSMUSP00000039466; -.
DR iPTMnet; Q04888; -.
DR PhosphoSitePlus; Q04888; -.
DR MaxQB; Q04888; -.
DR PaxDb; Q04888; -.
DR PeptideAtlas; Q04888; -.
DR PRIDE; Q04888; -.
DR ProteomicsDB; 257378; -.
DR Antibodypedia; 3774; 1004 antibodies from 48 providers.
DR Ensembl; ENSMUST00000040019; ENSMUSP00000039466; ENSMUSG00000033006.
DR Ensembl; ENSMUST00000230532; ENSMUSP00000155574; ENSMUSG00000033006.
DR GeneID; 20665; -.
DR KEGG; mmu:20665; -.
DR UCSC; uc007wsu.2; mouse.
DR CTD; 6663; -.
DR MGI; MGI:98358; Sox10.
DR VEuPathDB; HostDB:ENSMUSG00000033006; -.
DR eggNOG; KOG0527; Eukaryota.
DR GeneTree; ENSGT00940000158046; -.
DR HOGENOM; CLU_031800_0_0_1; -.
DR InParanoid; Q04888; -.
DR OMA; PPHYADQ; -.
DR OrthoDB; 782373at2759; -.
DR PhylomeDB; Q04888; -.
DR BioGRID-ORCS; 20665; 7 hits in 72 CRISPR screens.
DR ChiTaRS; Sox10; mouse.
DR PRO; PR:Q04888; -.
DR Proteomes; UP000000589; Chromosome 15.
DR RNAct; Q04888; protein.
DR Bgee; ENSMUSG00000033006; Expressed in vestibular membrane of cochlear duct and 221 other tissues.
DR ExpressionAtlas; Q04888; baseline and differential.
DR Genevisible; Q04888; MM.
DR GO; GO:0000785; C:chromatin; ISO:MGI.
DR GO; GO:0005737; C:cytoplasm; IDA:MGI.
DR GO; GO:0031315; C:extrinsic component of mitochondrial outer membrane; IDA:MGI.
DR GO; GO:0005654; C:nucleoplasm; ISO:MGI.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0003682; F:chromatin binding; IDA:MGI.
DR GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
DR GO; GO:0001216; F:DNA-binding transcription activator activity; ISS:UniProtKB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IDA:UniProtKB.
DR GO; GO:0140297; F:DNA-binding transcription factor binding; ISO:MGI.
DR GO; GO:0042802; F:identical protein binding; ISO:MGI.
DR GO; GO:1990841; F:promoter-specific chromatin binding; ISO:MGI.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:UniProtKB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; ISO:MGI.
DR GO; GO:0000976; F:transcription cis-regulatory region binding; IDA:MGI.
DR GO; GO:0030154; P:cell differentiation; IMP:MGI.
DR GO; GO:0048469; P:cell maturation; IMP:MGI.
DR GO; GO:0071393; P:cellular response to progesterone stimulus; IEA:Ensembl.
DR GO; GO:0071466; P:cellular response to xenobiotic stimulus; IEA:Ensembl.
DR GO; GO:0022010; P:central nervous system myelination; IMP:UniProtKB.
DR GO; GO:0048589; P:developmental growth; IMP:MGI.
DR GO; GO:0048546; P:digestive tract morphogenesis; IMP:MGI.
DR GO; GO:0048484; P:enteric nervous system development; IMP:UniProtKB.
DR GO; GO:0001701; P:in utero embryonic development; IGI:MGI.
DR GO; GO:0032808; P:lacrimal gland development; IMP:MGI.
DR GO; GO:0030318; P:melanocyte differentiation; IMP:MGI.
DR GO; GO:0061138; P:morphogenesis of a branching epithelium; IMP:MGI.
DR GO; GO:0002009; P:morphogenesis of an epithelium; IBA:GO_Central.
DR GO; GO:0043066; P:negative regulation of apoptotic process; IMP:UniProtKB.
DR GO; GO:0090090; P:negative regulation of canonical Wnt signaling pathway; IDA:UniProtKB.
DR GO; GO:0010626; P:negative regulation of Schwann cell proliferation; ISO:MGI.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; ISO:MGI.
DR GO; GO:0001755; P:neural crest cell migration; IMP:UniProtKB.
DR GO; GO:0007405; P:neuroblast proliferation; IMP:MGI.
DR GO; GO:0014003; P:oligodendrocyte development; IMP:UniProtKB.
DR GO; GO:0048709; P:oligodendrocyte differentiation; IMP:UniProtKB.
DR GO; GO:0007422; P:peripheral nervous system development; IGI:MGI.
DR GO; GO:0010628; P:positive regulation of gene expression; ISO:MGI.
DR GO; GO:0014015; P:positive regulation of gliogenesis; IMP:UniProtKB.
DR GO; GO:0031643; P:positive regulation of myelination; ISO:MGI.
DR GO; GO:0002052; P:positive regulation of neuroblast 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; IDA:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; ISO:MGI.
DR GO; GO:0006366; P:transcription by RNA polymerase II; IMP:MGI.
DR GO; GO:0006368; P:transcription elongation from RNA polymerase II promoter; ISO:MGI.
DR Gene3D; 1.10.30.10; -; 1.
DR InterPro; IPR009071; HMG_box_dom.
DR InterPro; IPR036910; HMG_box_dom_sf.
DR InterPro; IPR022151; Sox_N.
DR Pfam; PF00505; HMG_box; 1.
DR Pfam; PF12444; Sox_N; 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 Activator; Cytoplasm; DNA-binding; Membrane; Mitochondrion;
KW Mitochondrion outer membrane; Nucleus; Phosphoprotein; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..466
FT /note="Transcription factor SOX-10"
FT /id="PRO_0000048747"
FT DNA_BIND 104..172
FT /note="HMG box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00267"
FT REGION 1..67
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 62..102
FT /note="Dimerization (DIM)"
FT /evidence="ECO:0000250|UniProtKB:P56693"
FT REGION 160..200
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 213..275
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 228..310
FT /note="Transactivation domain (TAM)"
FT /evidence="ECO:0000250|UniProtKB:P56693"
FT REGION 344..375
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 353..466
FT /note="Transactivation domain (TAC)"
FT /evidence="ECO:0000250|UniProtKB:P56693"
FT REGION 433..466
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 53..67
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 160..184
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 251..266
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 357..375
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 436..466
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 24
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P56693"
FT VARIANT 11
FT /note="E -> V"
FT CONFLICT 41
FT /note="G -> V (in Ref. 4; AAB49282)"
FT /evidence="ECO:0000305"
FT CONFLICT 119
FT /note="R -> P (in Ref. 6; CAA79484)"
FT /evidence="ECO:0000305"
FT CONFLICT 357
FT /note="K -> E (in Ref. 4; AAB49282)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 466 AA; 49949 MW; 84862547F039E71F CRC64;
MAEEQDLSEV ELSPVGSEEP RCLSPGSAPS LGPDGGGGGS GLRASPGPGE LGKVKKEQQD
GEADDDKFPV CIREAVSQVL SGYDWTLVPM PVRVNGASKS KPHVKRPMNA FMVWAQAARR
KLADQYPHLH NAELSKTLGK LWRLLNESDK RPFIEEAERL RMQHKKDHPD YKYQPRRRKN
GKAAQGEAEC PGGEAEQGGA AAIQAHYKSA HLDHRHPEEG SPMSDGNPEH PSGQSHGPPT
PPTTPKTELQ SGKADPKRDG RSLGEGGKPH IDFGNVDIGE ISHEVMSNME TFDVTELDQY
LPPNGHPGHV GSYSAAGYGL GSALAVASGH SAWISKPPGV ALPTVSPPGV DAKAQVKTET
TGPQGPPHYT DQPSTSQIAY TSLSLPHYGS AFPSISRPQF DYSDHQPSGP YYGHAGQASG
LYSAFSYMGP SQRPLYTAIS DPSPSGPQSH SPTHWEQPVY TTLSRP
