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SOLH1_MOUSE
ID   SOLH1_MOUSE             Reviewed;         357 AA.
AC   Q6IUP1; B2RTA1;
DT   15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT   05-JUL-2004, sequence version 1.
DT   03-AUG-2022, entry version 118.
DE   RecName: Full=Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1;
GN   Name=Sohlh1; Synonyms=Gm110, Tohlh1;
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], FUNCTION, SUBCELLULAR LOCATION, TISSUE
RP   SPECIFICITY, DEVELOPMENTAL STAGE, AND DISRUPTION PHENOTYPE.
RC   STRAIN=C57BL/6J;
RX   PubMed=16690745; DOI=10.1073/pnas.0601083103;
RA   Pangas S.A., Choi Y., Ballow D.J., Zhao Y., Westphal H., Matzuk M.M.,
RA   Rajkovic A.;
RT   "Oogenesis requires germ cell-specific transcriptional regulators Sohlh1
RT   and Lhx8.";
RL   Proc. Natl. Acad. Sci. U.S.A. 103:8090-8095(2006).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC   STRAIN=C57BL/6J;
RX   PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA   Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA   Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA   Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA   Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA   Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA   Eichler E.E., Ponting C.P.;
RT   "Lineage-specific biology revealed by a finished genome assembly of the
RT   mouse.";
RL   PLoS Biol. 7:E1000112-E1000112(2009).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain;
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   [4]
RP   FUNCTION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, AND DISRUPTION
RP   PHENOTYPE.
RX   PubMed=16564520; DOI=10.1016/j.ydbio.2006.02.027;
RA   Ballow D., Meistrich M.L., Matzuk M., Rajkovic A.;
RT   "Sohlh1 is essential for spermatogonial differentiation.";
RL   Dev. Biol. 294:161-167(2006).
RN   [5]
RP   INDUCTION.
RX   PubMed=20951351; DOI=10.1016/j.devcel.2010.09.010;
RA   Matson C.K., Murphy M.W., Griswold M.D., Yoshida S., Bardwell V.J.,
RA   Zarkower D.;
RT   "The mammalian doublesex homolog DMRT1 is a transcriptional gatekeeper that
RT   controls the mitosis versus meiosis decision in male germ cells.";
RL   Dev. Cell 19:612-624(2010).
RN   [6]
RP   TISSUE SPECIFICITY, FUNCTION, AND SUBUNIT.
RX   PubMed=22056784; DOI=10.1016/j.ydbio.2011.10.027;
RA   Suzuki H., Ahn H.W., Chu T., Bowden W., Gassei K., Orwig K., Rajkovic A.;
RT   "SOHLH1 and SOHLH2 coordinate spermatogonial differentiation.";
RL   Dev. Biol. 361:301-312(2012).
RN   [7]
RP   DISRUPTION PHENOTYPE, FUNCTION, SUBCELLULAR LOCATION, AND DEVELOPMENTAL
RP   STAGE.
RX   PubMed=28504655; DOI=10.1172/jci90281;
RA   Shin Y.H., Ren Y., Suzuki H., Golnoski K.J., Ahn H.W., Mico V.,
RA   Rajkovic A.;
RT   "Transcription factors SOHLH1 and SOHLH2 coordinate oocyte differentiation
RT   without affecting meiosis I.";
RL   J. Clin. Invest. 127:2106-2117(2017).
CC   -!- FUNCTION: Transcription regulator of both male and female germline
CC       differentiation. Suppresses genes involved in spermatogonial stem cells
CC       maintenance, and induces genes important for spermatogonial
CC       differentiation (PubMed:22056784). Coordinates oocyte differentiation
CC       without affecting meiosis I (PubMed:28504655).
CC       {ECO:0000269|PubMed:22056784, ECO:0000269|PubMed:28504655}.
CC   -!- SUBUNIT: Forms both hetero- and homodimers with SOHLH2.
CC       {ECO:0000269|PubMed:22056784}.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16690745,
CC       ECO:0000269|PubMed:28504655}. Nucleus {ECO:0000255|PROSITE-
CC       ProRule:PRU00981, ECO:0000269|PubMed:16690745,
CC       ECO:0000269|PubMed:28504655}.
CC   -!- TISSUE SPECIFICITY: In males, it is mainly expressed in testis, while
CC       in females it is mainly expressed in ovary. In testis, it is
CC       exclusively expressed in spermatogonia, with a preference for
CC       prespermatogonia and type A spermatogonia. In ovary, it is detected in
CC       germ cell cysts, primordial follicles, and primary follicles but is
CC       undetectable by the secondary follicle stage (at protein level).
CC       Expressed in the majority of spermatogonia in adult animals, but not in
CC       the most undifferentiated spermatogonial population (PubMed:22056784).
CC       {ECO:0000269|PubMed:16564520, ECO:0000269|PubMed:16690745,
CC       ECO:0000269|PubMed:22056784}.
CC   -!- DEVELOPMENTAL STAGE: In male testis, it is expressed as early as 12.5
CC       dpc. After birth, it localizes to type A spermatogonia in 7-day-old
CC       testis and adult testis, but not in spermatocytes. In spermatogonia, it
CC       is initially detected in stage IV Aal spermatogonia and strongly
CC       expressed in Aal, A1, A2, A3, A4, intermediate and type B spermatogonia
CC       (at protein level). In ovary, it is detected at 15.5 dpc, when oocytes
CC       have entered meiosis I, although a low level expression is detectable
CC       at 13.5 dpc. Expressed in oocytes of germ cell cysts as well as
CC       primordial follicles in the newborn ovary. In adult ovaries, it is
CC       preferentially expressed in primordial oocytes but disappear rapidly as
CC       the oocytes are recruited to form primary and secondary (multilayer and
CC       preantral) follicles. During oocyte differentiation, protein appearance
CC       at 15.5 dpc correlates with SOHLH2 translocation from the cytoplasm
CC       into the nucleus and is dependent on SOHLH2 expression
CC       (PubMed:28504655). {ECO:0000269|PubMed:16564520,
CC       ECO:0000269|PubMed:16690745, ECO:0000269|PubMed:28504655}.
CC   -!- INDUCTION: Transcription is activated by DMRT1 in undifferentiated
CC       spermatogonia. {ECO:0000269|PubMed:20951351}.
CC   -!- DISRUPTION PHENOTYPE: Knockout mice are infertile. Males lacking SOHLH1
CC       display disrupted spermatogonial differentiation into spermatocytes and
CC       show a strong down-regulation Lhx8 and Neurog3/Ngn3 genes
CC       (PubMed:16564520). Females display perturbed follicular formation,
CC       probably partially due to down-regulation of Nobox and Figla, 2 genes
CC       required for folliculogenesis (PubMed:16690745). Fertility could be
CC       restored by conditional expression of a SOHLH1 transgene after the
CC       onset of meiosis (PubMed:28504655). {ECO:0000269|PubMed:16564520,
CC       ECO:0000269|PubMed:16690745, ECO:0000269|PubMed:28504655}.
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DR   EMBL; AY623913; AAT39886.1; -; mRNA.
DR   EMBL; AL731682; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC139189; AAI39190.1; -; mRNA.
DR   EMBL; BC139190; AAI39191.1; -; mRNA.
DR   CCDS; CCDS15793.1; -.
DR   RefSeq; NP_001001714.1; NM_001001714.1.
DR   AlphaFoldDB; Q6IUP1; -.
DR   STRING; 10090.ENSMUSP00000076253; -.
DR   PhosphoSitePlus; Q6IUP1; -.
DR   PaxDb; Q6IUP1; -.
DR   PRIDE; Q6IUP1; -.
DR   ProteomicsDB; 257543; -.
DR   Antibodypedia; 32071; 148 antibodies from 21 providers.
DR   DNASU; 227631; -.
DR   Ensembl; ENSMUST00000076989; ENSMUSP00000076253; ENSMUSG00000059625.
DR   GeneID; 227631; -.
DR   KEGG; mmu:227631; -.
DR   UCSC; uc008itn.1; mouse.
DR   CTD; 402381; -.
DR   MGI; MGI:2684956; Sohlh1.
DR   VEuPathDB; HostDB:ENSMUSG00000059625; -.
DR   eggNOG; ENOG502TDNY; Eukaryota.
DR   GeneTree; ENSGT00390000000656; -.
DR   HOGENOM; CLU_066456_0_0_1; -.
DR   InParanoid; Q6IUP1; -.
DR   OMA; CCEDSAQ; -.
DR   OrthoDB; 1106310at2759; -.
DR   PhylomeDB; Q6IUP1; -.
DR   TreeFam; TF336841; -.
DR   BioGRID-ORCS; 227631; 1 hit in 74 CRISPR screens.
DR   PRO; PR:Q6IUP1; -.
DR   Proteomes; UP000000589; Chromosome 2.
DR   RNAct; Q6IUP1; protein.
DR   Bgee; ENSMUSG00000059625; Expressed in gonadal ridge and 12 other tissues.
DR   Genevisible; Q6IUP1; MM.
DR   GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR   GO; GO:0001673; C:male germ cell nucleus; IDA:MGI.
DR   GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR   GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR   GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:MGI.
DR   GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR   GO; GO:0042802; F:identical protein binding; IPI:MGI.
DR   GO; GO:0046982; F:protein heterodimerization activity; IDA:UniProtKB.
DR   GO; GO:0042803; F:protein homodimerization activity; IDA:UniProtKB.
DR   GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR   GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR   GO; GO:0030154; P:cell differentiation; IDA:UniProtKB.
DR   GO; GO:0009994; P:oocyte differentiation; IDA:UniProtKB.
DR   GO; GO:0048477; P:oogenesis; IMP:MGI.
DR   GO; GO:0001541; P:ovarian follicle development; IMP:MGI.
DR   GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR   GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:MGI.
DR   GO; GO:0010468; P:regulation of gene expression; IMP:MGI.
DR   GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR   GO; GO:0007283; P:spermatogenesis; IDA:UniProtKB.
DR   Gene3D; 4.10.280.10; -; 1.
DR   InterPro; IPR011598; bHLH_dom.
DR   InterPro; IPR036638; HLH_DNA-bd_sf.
DR   InterPro; IPR032668; SOHLH1.
DR   PANTHER; PTHR16223:SF14; PTHR16223:SF14; 1.
DR   Pfam; PF00010; HLH; 1.
DR   SUPFAM; SSF47459; SSF47459; 1.
DR   PROSITE; PS50888; BHLH; 1.
PE   1: Evidence at protein level;
KW   Cytoplasm; Developmental protein; Differentiation; DNA-binding; Nucleus;
KW   Reference proteome; Spermatogenesis; Transcription;
KW   Transcription regulation.
FT   CHAIN           1..357
FT                   /note="Spermatogenesis- and oogenesis-specific basic helix-
FT                   loop-helix-containing protein 1"
FT                   /id="PRO_0000315699"
FT   DOMAIN          54..105
FT                   /note="bHLH"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT   REGION          1..40
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          145..210
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        17..40
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        191..205
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   SEQUENCE   357 AA;  38188 MW;  09F71E4D591997CA CRC64;
     MASGGHERAN EDYRVSGITG CSKTPQPETQ DSLQTSSQSS ALCTAPVAAA NLGPSLRRNV
     VSERERRRRI SLSCEHLRAL LPQFDGRRED MASVLEMSVY FLQLAHSMDP SWEQLSVPQP
     PQEMWHMWQG DVLQVTLANQ IADSKPDSGI AKPSAVSRVQ DPPCFGMLDT DQSQATERES
     ELLERPSSCP GHRQSALSFS EPESSSLGPG LPPWIPHSWQ PATPEASDIV PGGSHQVASL
     AGDPESSGML AEEANLVLAS VPDARYTTGA GSDVVDGAPF LMTTNPDWWL GSVEGRGGPA
     LARSSPVDGA EPSFIGDPEL CSQELQAGPG ELWGLDFGSP GLALKDEADS IFPDFFP
 
 
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