DMRT1_CHICK
ID DMRT1_CHICK Reviewed; 365 AA.
AC Q9PTQ7; D3Y4D9; E9LT10; F1N8U8; Q9PTB5;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 18-APR-2012, sequence version 2.
DT 03-AUG-2022, entry version 125.
DE RecName: Full=Doublesex- and mab-3-related transcription factor 1;
GN Name=DMRT1;
OS Gallus gallus (Chicken).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda;
OC Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae;
OC Phasianinae; Gallus.
OX NCBI_TaxID=9031;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Gonad;
RA Zhao D.B.;
RL Submitted (JAN-2010) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Red jungle fowl;
RX PubMed=15592404; DOI=10.1038/nature03154;
RA Hillier L.W., Miller W., Birney E., Warren W., Hardison R.C., Ponting C.P.,
RA Bork P., Burt D.W., Groenen M.A.M., Delany M.E., Dodgson J.B.,
RA Chinwalla A.T., Cliften P.F., Clifton S.W., Delehaunty K.D., Fronick C.,
RA Fulton R.S., Graves T.A., Kremitzki C., Layman D., Magrini V.,
RA McPherson J.D., Miner T.L., Minx P., Nash W.E., Nhan M.N., Nelson J.O.,
RA Oddy L.G., Pohl C.S., Randall-Maher J., Smith S.M., Wallis J.W.,
RA Yang S.-P., Romanov M.N., Rondelli C.M., Paton B., Smith J., Morrice D.,
RA Daniels L., Tempest H.G., Robertson L., Masabanda J.S., Griffin D.K.,
RA Vignal A., Fillon V., Jacobbson L., Kerje S., Andersson L.,
RA Crooijmans R.P., Aerts J., van der Poel J.J., Ellegren H., Caldwell R.B.,
RA Hubbard S.J., Grafham D.V., Kierzek A.M., McLaren S.R., Overton I.M.,
RA Arakawa H., Beattie K.J., Bezzubov Y., Boardman P.E., Bonfield J.K.,
RA Croning M.D.R., Davies R.M., Francis M.D., Humphray S.J., Scott C.E.,
RA Taylor R.G., Tickle C., Brown W.R.A., Rogers J., Buerstedde J.-M.,
RA Wilson S.A., Stubbs L., Ovcharenko I., Gordon L., Lucas S., Miller M.M.,
RA Inoko H., Shiina T., Kaufman J., Salomonsen J., Skjoedt K., Wong G.K.-S.,
RA Wang J., Liu B., Wang J., Yu J., Yang H., Nefedov M., Koriabine M.,
RA Dejong P.J., Goodstadt L., Webber C., Dickens N.J., Letunic I., Suyama M.,
RA Torrents D., von Mering C., Zdobnov E.M., Makova K., Nekrutenko A.,
RA Elnitski L., Eswara P., King D.C., Yang S.-P., Tyekucheva S.,
RA Radakrishnan A., Harris R.S., Chiaromonte F., Taylor J., He J.,
RA Rijnkels M., Griffiths-Jones S., Ureta-Vidal A., Hoffman M.M., Severin J.,
RA Searle S.M.J., Law A.S., Speed D., Waddington D., Cheng Z., Tuzun E.,
RA Eichler E., Bao Z., Flicek P., Shteynberg D.D., Brent M.R., Bye J.M.,
RA Huckle E.J., Chatterji S., Dewey C., Pachter L., Kouranov A.,
RA Mourelatos Z., Hatzigeorgiou A.G., Paterson A.H., Ivarie R., Brandstrom M.,
RA Axelsson E., Backstrom N., Berlin S., Webster M.T., Pourquie O.,
RA Reymond A., Ucla C., Antonarakis S.E., Long M., Emerson J.J., Betran E.,
RA Dupanloup I., Kaessmann H., Hinrichs A.S., Bejerano G., Furey T.S.,
RA Harte R.A., Raney B., Siepel A., Kent W.J., Haussler D., Eyras E.,
RA Castelo R., Abril J.F., Castellano S., Camara F., Parra G., Guigo R.,
RA Bourque G., Tesler G., Pevzner P.A., Smit A., Fulton L.A., Mardis E.R.,
RA Wilson R.K.;
RT "Sequence and comparative analysis of the chicken genome provide unique
RT perspectives on vertebrate evolution.";
RL Nature 432:695-716(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 19-362 (ISOFORM 2), TISSUE SPECIFICITY, AND
RP DEVELOPMENTAL STAGE.
RX PubMed=10965136; DOI=10.1159/000015626;
RA Shan Z., Nanda I., Wang Y., Schmid M., Vortkamp A., Haaf T.;
RT "Sex-specific expression of an evolutionarily conserved male regulatory
RT gene, DMRT1, in birds.";
RL Cytogenet. Cell Genet. 89:252-257(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 55-365 (ISOFORM 1).
RX PubMed=10080173; DOI=10.1038/6769;
RA Nanda I., Shan Z., Schartl M., Burt D.W., Koehler M., Nothwang H.-G.,
RA Gruetzner F., Paton I.R., Windsor D., Dunn I., Engel W., Staeheli P.,
RA Mizuno S., Haaf T., Schmid M.;
RT "300 million years of conserved synteny between chicken Z and human
RT chromosome 9.";
RL Nat. Genet. 21:258-259(1999).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 55-365 (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Testis;
RX PubMed=10545231; DOI=10.1006/dbio.1999.9461;
RA Raymond C.S., Kettlewell J.R., Hirsch B., Bardwell V.J., Zarkower D.;
RT "Expression of Dmrt1 in the genital ridge of mouse and chicken embryos
RT suggests a role in vertebrate sexual development.";
RL Dev. Biol. 215:208-220(1999).
RN [6]
RP FUNCTION.
RX PubMed=19710650; DOI=10.1038/nature08298;
RA Smith C.A., Roeszler K.N., Ohnesorg T., Cummins D.M., Farlie P.G.,
RA Doran T.J., Sinclair A.H.;
RT "The avian Z-linked gene DMRT1 is required for male sex determination in
RT the chicken.";
RL Nature 461:267-271(2009).
CC -!- FUNCTION: Transcription factor that plays a key role in male sex
CC determination. Acts both as a transcription repressor and repressor.
CC {ECO:0000269|PubMed:19710650}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00070}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9PTQ7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9PTQ7-2; Sequence=VSP_042966;
CC -!- TISSUE SPECIFICITY: Expressed in the genital ridge and Wolffian duct
CC prior to sexual differentiation and is expressed at higher levels in ZZ
CC than in ZW embryos. {ECO:0000269|PubMed:10545231,
CC ECO:0000269|PubMed:10965136}.
CC -!- DEVELOPMENTAL STAGE: Expressed at stage 19 before sexual
CC differentiation, at stage 25 when the genital ridges are forming and
CC also at stage 31 when sexual differentiation is beginning. Also
CC expressed from stage 25 in the Wolffian ducts. More abundant in ZZ
CC (male) than ZW (female) gonads. {ECO:0000269|PubMed:10965136}.
CC -!- MISCELLANEOUS: Knockdown of DMRT1 in early embryos results in the
CC feminization of male gonads, affecting tissue organization, gene
CC expression and germ cell distribution. These experiments are in support
CC of the Z dosage hypothesis for avian sex determination or at least, for
CC gonadal sex development: according to this theory ZZ males would have a
CC higher dosage of DMRT1 which would initiate testicular differentiation
CC and expression of the key conserved Sertoli cell differentiation
CC factor, SOX9 (PubMed:19710650). {ECO:0000305|PubMed:19710650}.
CC -!- SIMILARITY: Belongs to the DMRT family. {ECO:0000305}.
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DR EMBL; GU396269; ADD16917.1; -; mRNA.
DR EMBL; AADN02078046; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AADN02078047; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AADN02078048; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AADN02078049; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AADN02078050; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; HQ127225; ADW41582.1; -; mRNA.
DR EMBL; AF123456; AAF19666.1; -; mRNA.
DR EMBL; AF211349; AAF19034.1; -; mRNA.
DR AlphaFoldDB; Q9PTQ7; -.
DR SMR; Q9PTQ7; -.
DR STRING; 9031.ENSGALP00000037648; -.
DR PaxDb; Q9PTQ7; -.
DR VEuPathDB; HostDB:geneid_769693; -.
DR eggNOG; KOG3815; Eukaryota.
DR InParanoid; Q9PTQ7; -.
DR Proteomes; UP000000539; Unplaced.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0007281; P:germ cell development; IBA:GO_Central.
DR GO; GO:0030238; P:male sex determination; TAS:AgBase.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0072520; P:seminiferous tubule development; NAS:AgBase.
DR GO; GO:0007548; P:sex differentiation; IBA:GO_Central.
DR Gene3D; 4.10.1040.10; -; 1.
DR InterPro; IPR001275; DM_DNA-bd.
DR InterPro; IPR036407; DM_DNA-bd_sf.
DR InterPro; IPR026607; DMRT.
DR InterPro; IPR022114; DMRT1-like.
DR PANTHER; PTHR12322; PTHR12322; 2.
DR Pfam; PF00751; DM; 1.
DR Pfam; PF12374; Dmrt1; 1.
DR SMART; SM00301; DM; 1.
DR SUPFAM; SSF82927; SSF82927; 1.
DR PROSITE; PS40000; DM_1; 1.
DR PROSITE; PS50809; DM_2; 1.
PE 2: Evidence at transcript level;
KW Activator; Alternative splicing; Developmental protein; Differentiation;
KW DNA-binding; Metal-binding; Nucleus; Reference proteome; Repressor;
KW Sexual differentiation; Transcription; Transcription regulation; Zinc.
FT CHAIN 1..365
FT /note="Doublesex- and mab-3-related transcription factor 1"
FT /id="PRO_0000207045"
FT DNA_BIND 63..109
FT /note="DM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00070"
FT REGION 1..47
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 120..170
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 316..365
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 137..165
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 316..342
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 358..365
FT /note="VSPVLEGE -> LSAST (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10965136"
FT /id="VSP_042966"
FT CONFLICT 27
FT /note="V -> A (in Ref. 3; ADW41582)"
FT /evidence="ECO:0000305"
FT CONFLICT 56
FT /note="A -> G (in Ref. 5; AAF19034)"
FT /evidence="ECO:0000305"
FT CONFLICT 108
FT /note="A -> V (in Ref. 4; AAF19666)"
FT /evidence="ECO:0000305"
FT CONFLICT 124
FT /note="I -> V (in Ref. 1; ADD16917)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 365 AA; 38836 MW; 5F7576EFEA7B7F5C CRC64;
MPGDSPVVSK RAAPKPRRAA MPGDSPVVSK PPDGAGPGDK AGGLGKAAAQ MAAAPAAGKK
LPRLPKCARC RNHGYSSPLK GHKRFCMWRD CQCKKCSLIA ERQRVMAAQV ALRRQQAQEE
ELGISHPVPL PSAPEPVVKK SSSSSSCLLQ DSSSPAHSTS TVAAAAASAP PEGRMLIQDI
PSIPSRGHLE STSDLVVDST YYSSFYQPSL YPYYNNLYNY SQYQMAVATE SSSSETGGTF
VGSAMKNSLR SLPATYMSSQ SGKQWQMKGM ENRHAMSSQY RMCSYYPPTS YLGQGVGSPT
CVTQILASED TPSYSESKAR VFSPPSSQDS GLGCLSSSES TKGDLECEPH QEPGAFAVSP
VLEGE
