SOX30_MOUSE
ID SOX30_MOUSE Reviewed; 782 AA.
AC Q8CGW4;
DT 10-MAY-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=Transcription factor SOX-30;
GN Name=Sox30;
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].
RA Tissot C., Bardos J., Freemont P.;
RT "Characterization of Sox-30 as an rfp interacting protein.";
RL Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=10359848; DOI=10.1093/nar/27.12.2503;
RA Osaki E., Nishina Y., Inazawa J., Copeland N.G., Gilbert D.J.,
RA Jenkins N.A., Ohsugi M., Tezuka T., Yoshida M., Semba K.;
RT "Identification of a novel Sry-related gene and its germ cell-specific
RT expression.";
RL Nucleic Acids Res. 27:2503-2510(1999).
RN [3]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Testis;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [4]
RP TISSUE SPECIFICITY, AND SUBCELLULAR LOCATION.
RX PubMed=25609838; DOI=10.1095/biolreprod.114.126250;
RA Petit F.G., Kervarrec C., Jamin S.P., Smagulova F., Hao C., Becker E.,
RA Jegou B., Chalmel F., Primig M.;
RT "Combining RNA and protein profiling data with network interactions
RT identifies genes associated with spermatogenesis in mouse and human.";
RL Biol. Reprod. 92:71-71(2015).
RN [5]
RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE,
RP AND DISRUPTION PHENOTYPE.
RX PubMed=29866902; DOI=10.1242/dev.164855;
RA Bai S., Fu K., Yin H., Cui Y., Yue Q., Li W., Cheng L., Tan H., Liu X.,
RA Guo Y., Zhang Y., Xie J., He W., Wang Y., Feng H., Xin C., Zhang J.,
RA Lin M., Shen B., Sun Z., Guo X., Zheng K., Ye L.;
RT "Sox30 initiates transcription of haploid genes during late meiosis and
RT spermiogenesis in mouse testes.";
RL Development 145:0-0(2018).
RN [6]
RP ERRATUM OF PUBMED:29866902.
RX PubMed=31113793; DOI=10.1242/dev.179978;
RA Bai S., Fu K., Yin H., Cui Y., Yue Q., Li W., Cheng L., Tan H., Liu X.,
RA Guo Y., Zhang Y., Xie J., He W., Wang Y., Feng H., Xin C., Zhang J.,
RA Lin M., Shen B., Sun Z., Guo X., Zheng K., Ye L.;
RL Development 146:0-0(2019).
RN [7]
RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE,
RP INDUCTION BY RETINOIC ACID, AND DISRUPTION PHENOTYPE.
RX PubMed=29848638; DOI=10.1242/dev.164723;
RA Zhang D., Xie D., Lin X., Ma L., Chen J., Zhang D., Wang Y., Duo S.,
RA Feng Y., Zheng C., Jiang B., Ning Y., Han C.;
RT "The transcription factor SOX30 is a key regulator of mouse
RT spermiogenesis.";
RL Development 145:0-0(2018).
RN [8]
RP FUNCTION, INTERACTION WITH CTNNB1, TISSUE SPECIFICITY, AND DISRUPTION
RP PHENOTYPE.
RX PubMed=29739711; DOI=10.1016/j.ebiom.2018.04.026;
RA Han F., Liu W.B., Shi X.Y., Yang J.T., Zhang X., Li Z.M., Jiang X., Yin L.,
RA Li J.J., Huang C.S., Cao J., Liu J.Y.;
RT "SOX30 Inhibits Tumor Metastasis through Attenuating Wnt-Signaling via
RT Transcriptional and Posttranslational Regulation of beta-Catenin in Lung
RT Cancer.";
RL EBioMedicine 31:253-266(2018).
CC -!- FUNCTION: Acts as both a transcriptional activator and repressor
CC (PubMed:29866902, PubMed:29848638). Binds to the DNA sequence 5'-ACAAT-
CC 3' and shows a preference for guanine residues surrounding this core
CC motif (PubMed:29866902). Binds to its own promoter and activates its
CC own transcription (PubMed:29866902, PubMed:29848638). Required to
CC activate the expression of postmeiotic genes involved in spermiogenesis
CC (PubMed:29866902, PubMed:29848638). Binds to the promoter region of
CC CTNNB1 and represses its transcription which leads to inhibition of Wnt
CC signaling (PubMed:29739711). Also inhibits Wnt signaling by binding to
CC the CTNNB1 protein, preventing interaction of CTNNB1 with TCF7L2/TCF4
CC (By similarity). {ECO:0000250|UniProtKB:O94993,
CC ECO:0000269|PubMed:29739711, ECO:0000269|PubMed:29848638,
CC ECO:0000269|PubMed:29866902}.
CC -!- SUBUNIT: Interacts with CTNNB1, competitively inhibiting CTNNB1-
CC TCF7L2/TCF4 interaction. {ECO:0000269|PubMed:29739711}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25609838,
CC ECO:0000269|PubMed:29848638, ECO:0000269|PubMed:29866902}. Cytoplasm
CC {ECO:0000250|UniProtKB:O94993}. Note=Enriched at the chromocenter.
CC {ECO:0000269|PubMed:29848638}.
CC -!- TISSUE SPECIFICITY: Expressed in the lung (at protein level)
CC (PubMed:29739711). Expressed in testes (at protein level)
CC (PubMed:10359848, PubMed:29848638, PubMed:25609838). Expressed in
CC preleptotene spermatocytes, round spermatids, and elongated spermatids
CC in the testis (at protein level) (PubMed:29866902, PubMed:25609838).
CC Expressed in pachytene spermatocytes during stages 3 to 8 of
CC spermatogenesis (at protein level) (PubMed:29866902, PubMed:29848638,
CC PubMed:25609838). Increased expression in diplotene spermatocytes at
CC stage 9-11 and in metaphase spermatocytes or secondary spermatocytes at
CC stage 12 (PubMed:29848638, PubMed:25609838). Expressed in ovaries
CC (PubMed:29848638). {ECO:0000269|PubMed:10359848,
CC ECO:0000269|PubMed:25609838, ECO:0000269|PubMed:29739711,
CC ECO:0000269|PubMed:29848638, ECO:0000269|PubMed:29866902}.
CC -!- DEVELOPMENTAL STAGE: Expressed in the testes at 13.5 dpc
CC (PubMed:10359848, PubMed:29848638). Also expressed in the mesonephros,
CC metanephros, brain, lung, heart and stomach at 13.5 dpc
CC (PubMed:10359848). Expressed in the testes at 14.5 dpc
CC (PubMed:29848638). Expressed in the ovary at 13.5 and 14.5 dpc
CC (PubMed:29848638). Expressed weakly in the testes at postnatal day 14
CC (P14), strongly expressed from P21 onwards (PubMed:29866902). Expressed
CC in the nucleus of pachytene spermatocytes in stages 5 to 6 of
CC spermatogenesis (PubMed:29866902). Expressed in round spermatids and
CC increased expression in pachytene spermatocytes in stages 7 to 8 of
CC spermatogenesis (PubMed:29866902). Expressed in the nucleus of
CC diplotene spermatocytes in stages 11 to 12 of spermatogenesis, however
CC expression in the nuclei of spermatids is lost (PubMed:29866902).
CC {ECO:0000269|PubMed:10359848, ECO:0000269|PubMed:29848638,
CC ECO:0000269|PubMed:29866902}.
CC -!- INDUCTION: Induced in germline stem cells by retinoic acid.
CC {ECO:0000269|PubMed:29848638}.
CC -!- DISRUPTION PHENOTYPE: Knockout mice are viable, morphologically normal,
CC but males are sterile (PubMed:29866902, PubMed:29848638). Male mice
CC exhibit small testes and epididymis (PubMed:29848638). Multinuclear
CC syncytia present in the seminiferous tubules, with degenerated multi-
CC chromocenter round spermatids and multinucleated giant cells in the
CC epididymis lumen (PubMed:29848638). Increased numbers of apoptotic
CC cells in the testes and epididymis (PubMed:29848638). Increased
CC expression of CTNNB1, MYC, CCND1, and MMP7 in lung cells
CC (PubMed:29739711). Increase in diplotene spermatocytes in the testes,
CC indicative of defects in the later stages of meiosis (PubMed:29866902).
CC Developmental failure of the large nuclear docking acrosome to develop
CC during the cap phase of spermiogenesis (PubMed:29866902,
CC PubMed:29848638). In addition disruption of proacrosomic vesicle
CC translocation during spermatid differentiation results in the absence
CC of elongating spermatids and therefore viable sperm (PubMed:29866902).
CC No effect on transcription or processing of piRNA precursors
CC (PubMed:29866902). {ECO:0000269|PubMed:29739711,
CC ECO:0000269|PubMed:29848638, ECO:0000269|PubMed:29866902}.
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DR EMBL; AY005801; AAF99391.1; -; mRNA.
DR CCDS; CCDS24570.1; -.
DR RefSeq; NP_775560.1; NM_173384.2.
DR AlphaFoldDB; Q8CGW4; -.
DR SMR; Q8CGW4; -.
DR STRING; 10090.ENSMUSP00000037519; -.
DR iPTMnet; Q8CGW4; -.
DR PhosphoSitePlus; Q8CGW4; -.
DR MaxQB; Q8CGW4; -.
DR PaxDb; Q8CGW4; -.
DR PRIDE; Q8CGW4; -.
DR ProteomicsDB; 261114; -.
DR Antibodypedia; 1746; 224 antibodies from 29 providers.
DR DNASU; 214105; -.
DR Ensembl; ENSMUST00000049038; ENSMUSP00000037519; ENSMUSG00000040489.
DR GeneID; 214105; -.
DR KEGG; mmu:214105; -.
DR UCSC; uc011xtj.1; mouse.
DR CTD; 11063; -.
DR MGI; MGI:1341157; Sox30.
DR VEuPathDB; HostDB:ENSMUSG00000040489; -.
DR eggNOG; KOG0527; Eukaryota.
DR GeneTree; ENSGT00940000161042; -.
DR HOGENOM; CLU_021249_0_0_1; -.
DR InParanoid; Q8CGW4; -.
DR OMA; PFREYPD; -.
DR OrthoDB; 369754at2759; -.
DR PhylomeDB; Q8CGW4; -.
DR TreeFam; TF336594; -.
DR BioGRID-ORCS; 214105; 8 hits in 71 CRISPR screens.
DR ChiTaRS; Sox30; mouse.
DR PRO; PR:Q8CGW4; -.
DR Proteomes; UP000000589; Chromosome 11.
DR RNAct; Q8CGW4; protein.
DR Bgee; ENSMUSG00000040489; Expressed in ureteric bud trunk and 22 other tissues.
DR Genevisible; Q8CGW4; MM.
DR GO; GO:0010369; C:chromocenter; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005829; C:cytosol; ISO:MGI.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; ISO:MGI.
DR GO; GO:0005654; C:nucleoplasm; ISO:MGI.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0008013; F:beta-catenin binding; ISO:MGI.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IMP: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; IBA:GO_Central.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IMP:UniProtKB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; ISO:MGI.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; ISO:MGI.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IMP:UniProtKB.
DR GO; GO:0030178; P:negative regulation of Wnt signaling pathway; ISS:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:UniProtKB.
DR GO; GO:0120211; P:proacrosomal vesicle fusion; IMP:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; ISO:MGI.
DR GO; GO:0031960; P:response to corticosteroid; IEA:Ensembl.
DR GO; GO:0007286; P:spermatid development; IMP:UniProtKB.
DR Gene3D; 1.10.30.10; -; 1.
DR InterPro; IPR009071; HMG_box_dom.
DR InterPro; IPR036910; HMG_box_dom_sf.
DR Pfam; PF00505; HMG_box; 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; Nucleus; Reference proteome; Repressor;
KW Transcription; Transcription regulation.
FT CHAIN 1..782
FT /note="Transcription factor SOX-30"
FT /id="PRO_0000048775"
FT DNA_BIND 366..434
FT /note="HMG box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00267"
FT REGION 1..37
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 95..117
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 139..226
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 501..604
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 704..724
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 756..782
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 7..34
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 199..226
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 505..521
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 522..540
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 541..578
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 782 AA; 83938 MW; 0D1EEBB17BCB4F41 CRC64;
MERARPEPPP PPPPPPRQPP RPTPPRPLRP APPAQPVEAA TFRAAAAERS QSPSAQATAA
MAAVASSCGE AAAAGAQAAG TRRLLQVKPE QVLLLPPGGP GVPPAPDEGA AAAAAAAAAA
ASSAQARLLQ LRPELLLLPP QSAADGGPCR PELHPMQPRT LLVKAEKQEL GAGLDLSVGS
RRTTEAGPRA SRAAKLDGTG KALDGRRSDE KKAKLEAEEA PRDALKGGEG KSLLAIGEGV
IKTEEPDRPR DDCRLGTEAT SNGLVHSSKE AILAQPPSAF GPHQQDLRFP LTLHTVPPGA
RIQFQGPPPS ELIRLSKVPL TPVPIKMQSL LEPSVKIETK DVPLTVLPSD AGIPDTPFSK
DRNGHVKRPM NAFMVWARIH RPALAKANPA ANNAEISVQL GLEWNKLSEE QKKPYYDEAQ
KIKEKHREEF PGWVYQPRPG KRKRFPLSVS NVFSGTTQNI ISTNPTTIYP YRSPTYSVVI
PGLQNTITHP VGEAPPAIQL PTPAVQRPSP ITLFQPSVSS TGPVAVPPPS LTPRPSLPPQ
RFSGPSQTDI HRLPSGSSRS VKRSTPGSLE STTRIPAGAS TAHARFATSP IQPPKEYASV
STCPRSTPIP PATPIPHSHV YQPPPLGHPA TLFGTPPRFS FHHPYFLPGP HYFPSSTCPY
SRPPFGYGNF PSSMPECLGY YEDRYQKHEA IFSALNRDYP FRDYPDEHTH SEDSRSCESM
DGPPYYSSHG HGGEEYLNAM PTLDIGALEN VFTAPASAPS GVQQVNVTDS DEEEEEKVLR
NL
