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Doublesex- and mab-3-related transcription factor 3

 DMRT3_HUMAN             Reviewed;         472 AA.
Q9NQL9; Q7LA03; Q7LCH8; Q96SC7; Q9NRQ9;
20-FEB-2007, integrated into UniProtKB/Swiss-Prot.
01-OCT-2000, sequence version 1.
25-OCT-2017, entry version 119.
RecName: Full=Doublesex- and mab-3-related transcription factor 3;
Name=DMRT3; Synonyms=DMRTA3;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15164053; DOI=10.1038/nature02465;
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E.,
Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C.,
Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S.,
Babbage A.K., Babbage S., Bagguley C.L., Bailey J., Banerjee R.,
Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P.,
Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W.,
Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G.,
Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M.,
Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W.,
Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A.,
Frankland J.A., French L., Fricker D.G., Garner P., Garnett J.,
Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
Kimberley A.M., King A., Knights A., Laird G.K., Langford C.,
Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M.,
Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S.,
McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J.,
Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R.,
Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M.,
Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M.,
Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A.,
Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P.,
Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W.,
Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S.,
Rogers J., Dunham I.;
"DNA sequence and analysis of human chromosome 9.";
Nature 429:369-374(2004).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Colon;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[3]
NUCLEOTIDE SEQUENCE [MRNA] OF 46-169.
TISSUE=Testis;
PubMed=11863363; DOI=10.1006/geno.2002.6711;
Ottolenghi C., Fellous M., Barbieri M., McElreavey K.;
"Novel paralogy relations among human chromosomes support a link
between the phylogeny of doublesex-related genes and the evolution of
sex determination.";
Genomics 79:333-343(2002).
[4]
NUCLEOTIDE SEQUENCE [MRNA] OF 130-472, TISSUE SPECIFICITY, AND
DEVELOPMENTAL STAGE.
PubMed=10729223; DOI=10.1006/geno.2000.6121;
Ottolenghi C., Veitia R., Quintana-Murci L., Torchard D., Scapoli L.,
Souleyreau-Therville N., Beckmann J., Fellous M., McElreavey K.;
"The region on 9p associated with 46,XY sex reversal contains several
transcripts expressed in the urogenital system and a novel doublesex-
related domain.";
Genomics 64:170-178(2000).
[5]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=18669648; DOI=10.1073/pnas.0805139105;
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
Elledge S.J., Gygi S.P.;
"A quantitative atlas of mitotic phosphorylation.";
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
-!- FUNCTION: Probable transcription factor that plays a role in
configuring the spinal circuits controlling stride in vertebrates.
Involved in neuronal specification within specific subdivision of
spinal cord neurons and in the development of a coordinated
locomotor network controlling limb movements. May regulate
transcription during sexual development (By similarity).
{ECO:0000250}.
-!- INTERACTION:
Q08117-2:AES; NbExp=4; IntAct=EBI-9679045, EBI-11741437;
Q86V38:ATN1; NbExp=4; IntAct=EBI-9679045, EBI-11954292;
O95273:CCNDBP1; NbExp=3; IntAct=EBI-9679045, EBI-748961;
A8MQ03:CYSRT1; NbExp=4; IntAct=EBI-9679045, EBI-3867333;
Q13643:FHL3; NbExp=4; IntAct=EBI-9679045, EBI-741101;
O15353:FOXN1; NbExp=4; IntAct=EBI-9679045, EBI-11319000;
Q0VD86:INCA1; NbExp=5; IntAct=EBI-9679045, EBI-6509505;
O75525:KHDRBS3; NbExp=3; IntAct=EBI-9679045, EBI-722504;
Q15323:KRT31; NbExp=5; IntAct=EBI-9679045, EBI-948001;
Q6A162:KRT40; NbExp=5; IntAct=EBI-9679045, EBI-10171697;
Q9BYS1:KRTAP1-5; NbExp=4; IntAct=EBI-9679045, EBI-11741292;
P60409:KRTAP10-7; NbExp=3; IntAct=EBI-9679045, EBI-10172290;
P60410:KRTAP10-8; NbExp=5; IntAct=EBI-9679045, EBI-10171774;
P60411:KRTAP10-9; NbExp=5; IntAct=EBI-9679045, EBI-10172052;
P26371:KRTAP5-9; NbExp=3; IntAct=EBI-9679045, EBI-3958099;
Q9BYQ4:KRTAP9-2; NbExp=4; IntAct=EBI-9679045, EBI-1044640;
Q99750:MDFI; NbExp=5; IntAct=EBI-9679045, EBI-724076;
Q9UJV3-2:MID2; NbExp=5; IntAct=EBI-9679045, EBI-10172526;
Q5JR59:MTUS2; NbExp=3; IntAct=EBI-9679045, EBI-742948;
Q7Z3S9:NOTCH2NL; NbExp=5; IntAct=EBI-9679045, EBI-945833;
O15162:PLSCR1; NbExp=3; IntAct=EBI-9679045, EBI-740019;
P25788:PSMA3; NbExp=3; IntAct=EBI-9679045, EBI-348380;
Q93062:RBPMS; NbExp=3; IntAct=EBI-9679045, EBI-740322;
Q04864:REL; NbExp=3; IntAct=EBI-9679045, EBI-307352;
P21673:SAT1; NbExp=5; IntAct=EBI-9679045, EBI-711613;
P15884:TCF4; NbExp=3; IntAct=EBI-9679045, EBI-533224;
Q13077:TRAF1; NbExp=3; IntAct=EBI-9679045, EBI-359224;
P36406:TRIM23; NbExp=3; IntAct=EBI-9679045, EBI-740098;
P14373:TRIM27; NbExp=5; IntAct=EBI-9679045, EBI-719493;
Q15654:TRIP6; NbExp=3; IntAct=EBI-9679045, EBI-742327;
Q8TF42:UBASH3B; NbExp=3; IntAct=EBI-9679045, EBI-1380492;
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-
ProRule:PRU00070}.
-!- TISSUE SPECIFICITY: Expressed in testis.
{ECO:0000269|PubMed:10729223}.
-!- DEVELOPMENTAL STAGE: Expressed in 4 to 5 weeks embryos.
{ECO:0000269|PubMed:10729223}.
-!- MISCELLANEOUS: DMRT3 is a marker for a subset of spinal cord
neurons (dI6).
-!- SIMILARITY: Belongs to the DMRT family. {ECO:0000305}.
-!- WEB RESOURCE: Name=Protein Spotlight; Note=A gait on the wildside
- Issue 154 of November 2013;
URL="http://web.expasy.org/spotlight/back_issues/154/";
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EMBL; AL136365; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC113584; AAI13585.1; -; mRNA.
EMBL; BC117245; AAI17246.1; -; mRNA.
EMBL; AJ301581; CAC37947.1; -; mRNA.
EMBL; AF193873; AAF78892.1; -; mRNA.
CCDS; CCDS6443.1; -.
RefSeq; NP_067063.1; NM_021240.3.
UniGene; Hs.189174; -.
UniGene; Hs.672740; -.
UniGene; Hs.744394; -.
ProteinModelPortal; Q9NQL9; -.
SMR; Q9NQL9; -.
BioGrid; 121844; 26.
IntAct; Q9NQL9; 69.
iPTMnet; Q9NQL9; -.
PhosphoSitePlus; Q9NQL9; -.
DMDM; 74752905; -.
PaxDb; Q9NQL9; -.
PeptideAtlas; Q9NQL9; -.
PRIDE; Q9NQL9; -.
Ensembl; ENST00000190165; ENSP00000190165; ENSG00000064218.
GeneID; 58524; -.
KEGG; hsa:58524; -.
UCSC; uc003zgw.3; human.
CTD; 58524; -.
DisGeNET; 58524; -.
EuPathDB; HostDB:ENSG00000064218.4; -.
GeneCards; DMRT3; -.
HGNC; HGNC:13909; DMRT3.
MIM; 614754; gene.
neXtProt; NX_Q9NQL9; -.
OpenTargets; ENSG00000064218; -.
PharmGKB; PA27383; -.
eggNOG; KOG3815; Eukaryota.
eggNOG; ENOG410XSK9; LUCA.
GeneTree; ENSGT00550000074486; -.
HOGENOM; HOG000112230; -.
HOVERGEN; HBG080568; -.
InParanoid; Q9NQL9; -.
KO; K19490; -.
OMA; SNGHLFE; -.
OrthoDB; EOG091G08TD; -.
PhylomeDB; Q9NQL9; -.
TreeFam; TF317837; -.
GenomeRNAi; 58524; -.
PRO; PR:Q9NQL9; -.
Proteomes; UP000005640; Chromosome 9.
Bgee; ENSG00000064218; -.
CleanEx; HS_DMRT3; -.
ExpressionAtlas; Q9NQL9; baseline and differential.
Genevisible; Q9NQL9; HS.
GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
GO; GO:0046982; F:protein heterodimerization activity; IEA:Ensembl.
GO; GO:0043565; F:sequence-specific DNA binding; IEA:Ensembl.
GO; GO:0003700; F:transcription factor activity, sequence-specific DNA binding; IEA:InterPro.
GO; GO:0007628; P:adult walking behavior; IEA:Ensembl.
GO; GO:0046661; P:male sex differentiation; IEA:Ensembl.
GO; GO:0042487; P:regulation of odontogenesis of dentin-containing tooth; IEA:Ensembl.
GO; GO:0007548; P:sex differentiation; NAS:UniProtKB.
GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
GO; GO:0019226; P:transmission of nerve impulse; IEA:Ensembl.
GO; GO:0021521; P:ventral spinal cord interneuron specification; IEA:Ensembl.
Gene3D; 4.10.1040.10; -; 1.
InterPro; IPR001275; DM_DNA-bd.
InterPro; IPR036407; DM_DNA-bd_sf.
InterPro; IPR005173; DMA.
InterPro; IPR026607; DMRT/dsx/mab-3.
InterPro; IPR009060; UBA-like.
PANTHER; PTHR12322; PTHR12322; 1.
Pfam; PF00751; DM; 1.
Pfam; PF03474; DMA; 1.
SMART; SM00301; DM; 1.
SUPFAM; SSF46934; SSF46934; 1.
SUPFAM; SSF82927; SSF82927; 1.
PROSITE; PS40000; DM_1; 1.
PROSITE; PS50809; DM_2; 1.
1: Evidence at protein level;
Complete proteome; Developmental protein; Differentiation;
DNA-binding; Metal-binding; Nucleus; Polymorphism; Reference proteome;
Sexual differentiation; Transcription; Transcription regulation; Zinc.
CHAIN 1 472 Doublesex- and mab-3-related
transcription factor 3.
/FTId=PRO_0000277794.
DNA_BIND 29 76 DM. {ECO:0000255|PROSITE-
ProRule:PRU00070}.
VARIANT 164 164 A -> T (in dbSNP:rs10978001).
/FTId=VAR_030591.
VARIANT 261 261 N -> T (in dbSNP:rs7854621).
/FTId=VAR_030592.
VARIANT 356 356 G -> V (in dbSNP:rs16927037).
/FTId=VAR_030593.
SEQUENCE 472 AA; 51199 MW; BD76C5BE0B100A50 CRC64;
MNGYGSPYLY MGGPVSQPPR APLQRTPKCA RCRNHGVLSW LKGHKRYCRF KDCTCEKCIL
IIERQRVMAA QVALRRQQAN ESLESLIPDS LRALPGPPPP GDAVAAPQPP PASQPSQPQP
PRPAAELAAA AALRWTAEPQ PGALQAQLAK PDLTEERLGD GKSADNTEVF SDKDTDQRSS
PDVAKSKGCF TPESPEIVSV EEGGYAVQKN GGNPESRPDS PKCHAEQNHL LIEGPSGTVS
LPFSLKANRP PLEVLKKIFP NQKPTVLELI LKGCGGDLVS AVEVLLSSRS SVTGAERTSA
EPESLALPSN GHIFEHTLSS YPISSSKWSV GSAFRVPDTL RFSADSSNVV PSPLAGPLQP
PFPQPPRYPL MLRNTLARSQ SSPFLPNDVT LWNTMTLQQQ YQLRSQYVSP FPSNSTSVFR
SSPVLPARAT EDPRISIPDD GCPFVSKQSI YTEDDYDERS DSSDSRTLNT SS


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