ID   DMRTA_HUMAN             Reviewed;         504 AA.
AC   Q5VZB9; A1L481; Q8N8Y9; Q9H4B9;
DT   27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT   07-DEC-2004, sequence version 1.
DT   03-AUG-2022, entry version 131.
DE   RecName: Full=Doublesex- and mab-3-related transcription factor A1;
GN   Name=DMRTA1; Synonyms=DMO;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Kidney;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15164053; DOI=10.1038/nature02465;
RA   Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA   Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA   Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA   Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA   Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA   Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA   Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA   Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA   Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA   Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA   Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA   Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA   Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA   Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA   Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA   Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA   Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA   Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA   McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA   Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA   Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA   Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA   Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA   West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA   Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA   Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA   Dunham I.;
RT   "DNA sequence and analysis of human chromosome 9.";
RL   Nature 429:369-374(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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   NUCLEOTIDE SEQUENCE [MRNA] OF 98-360, AND TISSUE SPECIFICITY.
RC   TISSUE=Testis;
RX   PubMed=11863363; DOI=10.1006/geno.2002.6711;
RA   Ottolenghi C., Fellous M., Barbieri M., McElreavey K.;
RT   "Novel paralogy relations among human chromosomes support a link between
RT   the phylogeny of doublesex-related genes and the evolution of sex
RT   determination.";
RL   Genomics 79:333-343(2002).
RN   [5]
RP   VARIANT [LARGE SCALE ANALYSIS] CYS-342.
RX   PubMed=16959974; DOI=10.1126/science.1133427;
RA   Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA   Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA   Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA   Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA   Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA   Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal cancers.";
RL   Science 314:268-274(2006).
CC   -!- INTERACTION:
CC       Q5VZB9; O60333-2: KIF1B; NbExp=3; IntAct=EBI-3939812, EBI-10975473;
CC       Q5VZB9; Q9Y3C5: RNF11; NbExp=3; IntAct=EBI-3939812, EBI-396669;
CC       Q5VZB9; O76024: WFS1; NbExp=3; IntAct=EBI-3939812, EBI-720609;
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00070}.
CC   -!- TISSUE SPECIFICITY: Expressed in liver, kidney, pancreas, prostate and
CC       weakly detected in testis and ovary. {ECO:0000269|PubMed:11863363}.
CC   -!- SIMILARITY: Belongs to the DMRT family. {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; AK096011; BAC04672.1; -; mRNA.
DR   EMBL; AL161730; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC130435; AAI30436.1; -; mRNA.
DR   EMBL; BC130437; AAI30438.1; -; mRNA.
DR   EMBL; AJ290954; CAC16590.1; -; mRNA.
DR   CCDS; CCDS6514.1; -.
DR   RefSeq; NP_071443.2; NM_022160.2.
DR   AlphaFoldDB; Q5VZB9; -.
DR   SMR; Q5VZB9; -.
DR   BioGRID; 122014; 3.
DR   IntAct; Q5VZB9; 6.
DR   STRING; 9606.ENSP00000319651; -.
DR   iPTMnet; Q5VZB9; -.
DR   PhosphoSitePlus; Q5VZB9; -.
DR   BioMuta; DMRTA1; -.
DR   DMDM; 74747785; -.
DR   MassIVE; Q5VZB9; -.
DR   PaxDb; Q5VZB9; -.
DR   PeptideAtlas; Q5VZB9; -.
DR   PRIDE; Q5VZB9; -.
DR   ProteomicsDB; 65689; -.
DR   Antibodypedia; 24917; 149 antibodies from 27 providers.
DR   DNASU; 63951; -.
DR   Ensembl; ENST00000325870.3; ENSP00000319651.1; ENSG00000176399.4.
DR   GeneID; 63951; -.
DR   KEGG; hsa:63951; -.
DR   MANE-Select; ENST00000325870.3; ENSP00000319651.1; NM_022160.3; NP_071443.2.
DR   UCSC; uc003zpp.2; human.
DR   CTD; 63951; -.
DR   DisGeNET; 63951; -.
DR   GeneCards; DMRTA1; -.
DR   HGNC; HGNC:13826; DMRTA1.
DR   HPA; ENSG00000176399; Tissue enhanced (liver).
DR   MIM; 614803; gene.
DR   neXtProt; NX_Q5VZB9; -.
DR   OpenTargets; ENSG00000176399; -.
DR   PharmGKB; PA27384; -.
DR   VEuPathDB; HostDB:ENSG00000176399; -.
DR   eggNOG; KOG3815; Eukaryota.
DR   GeneTree; ENSGT00940000160640; -.
DR   HOGENOM; CLU_038477_1_0_1; -.
DR   InParanoid; Q5VZB9; -.
DR   OMA; FYNGFMG; -.
DR   OrthoDB; 1573364at2759; -.
DR   PhylomeDB; Q5VZB9; -.
DR   TreeFam; TF317837; -.
DR   PathwayCommons; Q5VZB9; -.
DR   SignaLink; Q5VZB9; -.
DR   BioGRID-ORCS; 63951; 13 hits in 1095 CRISPR screens.
DR   GenomeRNAi; 63951; -.
DR   Pharos; Q5VZB9; Tbio.
DR   PRO; PR:Q5VZB9; -.
DR   Proteomes; UP000005640; Chromosome 9.
DR   RNAct; Q5VZB9; protein.
DR   Bgee; ENSG00000176399; Expressed in right lobe of liver and 78 other tissues.
DR   Genevisible; Q5VZB9; HS.
DR   GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR   GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR   GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR   GO; GO:0042802; F:identical protein binding; IEA:Ensembl.
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:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR   GO; GO:0007281; P:germ cell development; IBA:GO_Central.
DR   GO; GO:0060179; P:male mating behavior; IEA:Ensembl.
DR   GO; GO:0001541; P:ovarian follicle development; IEA:Ensembl.
DR   GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
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; IPR005173; DMA.
DR   InterPro; IPR026607; DMRT.
DR   InterPro; IPR009060; UBA-like_sf.
DR   PANTHER; PTHR12322; PTHR12322; 1.
DR   Pfam; PF00751; DM; 1.
DR   Pfam; PF03474; DMA; 1.
DR   SMART; SM00301; DM; 1.
DR   SUPFAM; SSF46934; SSF46934; 1.
DR   SUPFAM; SSF82927; SSF82927; 1.
DR   PROSITE; PS40000; DM_1; 1.
DR   PROSITE; PS50809; DM_2; 1.
PE   1: Evidence at protein level;
KW   DNA-binding; Metal-binding; Nucleus; Reference proteome; Transcription;
KW   Transcription regulation; Zinc.
FT   CHAIN           1..504
FT                   /note="Doublesex- and mab-3-related transcription factor
FT                   A1"
FT                   /id="PRO_0000242700"
FT   DOMAIN          327..362
FT                   /note="DMA"
FT                   /evidence="ECO:0000255"
FT   DNA_BIND        97..144
FT                   /note="DM"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00070"
FT   REGION          1..27
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          170..192
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          266..307
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        289..307
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VARIANT         342
FT                   /note="R -> C (in a colorectal cancer sample; somatic
FT                   mutation; dbSNP:rs372873186)"
FT                   /evidence="ECO:0000269|PubMed:16959974"
FT                   /id="VAR_036331"
FT   CONFLICT        212
FT                   /note="V -> F (in Ref. 1; BAC04672)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        314
FT                   /note="A -> S (in Ref. 1; BAC04672)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   504 AA;  53125 MW;  E482189FB80B6A6E CRC64;
     MERSQCGSRD RGVSGRPHLA PGLVVAAPPP PSPALPVPSG MQVPPAFLRP PSLFLRAAAA
     AAAAAAATSG SGGCPPAPGL ESGVGAVGCG YPRTPKCARC RNHGVVSALK GHKRFCRWRD
     CACAKCTLIA ERQRVMAAQV ALRRQQAQEE SEARGLQRLL CSGLSWPPGG RASGGGGRAE
     NPQSTGGPAA GAALGLGALR QASGSATPAF EVFQQDYPEE KQEQKESKCE SCQNGQEELI
     SKSHQLYLGS SSRSNGVIGK QSIGSSISEY SNKPDSILSP HPGEQSGGEE SPRSLSSSDL
     ESGNESEWVK DLTATKASLP TVSSRPRDPL DILTKIFPNY RRSRLEGILR FCKGDVVQAI
     EQVLNGKEHK PDNRNLANSE ELENTAFQRA SSFSLAGIGF GTLGNKSAFS PLQTTSASYG
     GDSSLYGVNP RVGISPLRLA YSSAGRGLSG FMSPYLTPGL VPTLPFRPAL DYAFSGMIRD
     SSYLSSKDSI TCGRLYFRPN QDNP