DMRTB_HUMAN
ID DMRTB_HUMAN Reviewed; 342 AA.
AC Q96MA1; Q96SD2;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=Doublesex- and mab-3-related transcription factor B1;
GN Name=DMRTB1;
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=Testis;
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=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 7-342, 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).
CC -!- INTERACTION:
CC Q96MA1; Q0VD86: INCA1; NbExp=3; IntAct=EBI-954466, EBI-6509505;
CC Q96MA1; Q3LI72: KRTAP19-5; NbExp=3; IntAct=EBI-954466, EBI-1048945;
CC Q96MA1; Q3LI70: KRTAP19-6; NbExp=3; IntAct=EBI-954466, EBI-12805508;
CC Q96MA1; Q3LI59: KRTAP21-2; NbExp=3; IntAct=EBI-954466, EBI-18395721;
CC Q96MA1; Q8IUC2: KRTAP8-1; NbExp=3; IntAct=EBI-954466, EBI-10261141;
CC Q96MA1; Q9BTL3: RAMAC; NbExp=3; IntAct=EBI-954466, EBI-744023;
CC Q96MA1; Q08117-2: TLE5; NbExp=3; IntAct=EBI-954466, EBI-11741437;
CC Q96MA1; O94900: TOX; NbExp=3; IntAct=EBI-954466, EBI-9088321;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00070}.
CC -!- TISSUE SPECIFICITY: Testis. {ECO:0000269|PubMed:11863363}.
CC -!- SIMILARITY: Belongs to the DMRT family. {ECO:0000305}.
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DR EMBL; AK057273; BAB71407.1; -; mRNA.
DR EMBL; AL365445; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471059; EAX06736.1; -; Genomic_DNA.
DR EMBL; AJ291671; CAC40654.1; -; mRNA.
DR CCDS; CCDS581.1; -.
DR RefSeq; NP_149056.1; NM_033067.2.
DR AlphaFoldDB; Q96MA1; -.
DR SMR; Q96MA1; -.
DR BioGRID; 122012; 121.
DR IntAct; Q96MA1; 20.
DR MINT; Q96MA1; -.
DR STRING; 9606.ENSP00000360500; -.
DR iPTMnet; Q96MA1; -.
DR PhosphoSitePlus; Q96MA1; -.
DR BioMuta; DMRTB1; -.
DR DMDM; 74752030; -.
DR MassIVE; Q96MA1; -.
DR PaxDb; Q96MA1; -.
DR PeptideAtlas; Q96MA1; -.
DR PRIDE; Q96MA1; -.
DR ProteomicsDB; 77325; -.
DR Antibodypedia; 19214; 94 antibodies from 21 providers.
DR DNASU; 63948; -.
DR Ensembl; ENST00000371445.3; ENSP00000360500.3; ENSG00000143006.7.
DR GeneID; 63948; -.
DR KEGG; hsa:63948; -.
DR MANE-Select; ENST00000371445.3; ENSP00000360500.3; NM_033067.3; NP_149056.1.
DR UCSC; uc001cvq.2; human.
DR CTD; 63948; -.
DR DisGeNET; 63948; -.
DR GeneCards; DMRTB1; -.
DR HGNC; HGNC:13913; DMRTB1.
DR HPA; ENSG00000143006; Tissue enriched (testis).
DR MIM; 614805; gene.
DR neXtProt; NX_Q96MA1; -.
DR OpenTargets; ENSG00000143006; -.
DR PharmGKB; PA27386; -.
DR VEuPathDB; HostDB:ENSG00000143006; -.
DR eggNOG; KOG3815; Eukaryota.
DR GeneTree; ENSGT00940000161912; -.
DR HOGENOM; CLU_073336_0_0_1; -.
DR InParanoid; Q96MA1; -.
DR OMA; VRTPKCS; -.
DR OrthoDB; 1042183at2759; -.
DR PhylomeDB; Q96MA1; -.
DR TreeFam; TF317837; -.
DR PathwayCommons; Q96MA1; -.
DR SignaLink; Q96MA1; -.
DR BioGRID-ORCS; 63948; 29 hits in 1091 CRISPR screens.
DR GenomeRNAi; 63948; -.
DR Pharos; Q96MA1; Tdark.
DR PRO; PR:Q96MA1; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q96MA1; protein.
DR Bgee; ENSG00000143006; Expressed in oocyte and 30 other tissues.
DR Genevisible; Q96MA1; 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: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: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; IPR026607; DMRT.
DR PANTHER; PTHR12322; PTHR12322; 1.
DR Pfam; PF00751; DM; 1.
DR SMART; SM00301; DM; 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..342
FT /note="Doublesex- and mab-3-related transcription factor
FT B1"
FT /id="PRO_0000316012"
FT DNA_BIND 11..58
FT /note="DM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00070"
FT REGION 91..131
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 245..342
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 260..307
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 326..342
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 342 AA; 36205 MW; 18B0D5B0A6DB03EB CRC64;
MADKMVRTPK CSRCRNHGFL VPVKGHAGKC RWKQCLCEKC YLISERQKIM AAQKVLKTQA
AEEEQEAALC AQGPKQASGA AAAAPAPVPV PAASLRPLSP GTPSGDADPG PEGRAAACFF
EQPPRGRNPG PRALQPVLGG RSHVEPSERA AVAMPSLAGP PFGAEAAGSG YPGPLDLRRP
MRTVPGPLFT DFVRPLNINP DRALGPEYPG GSSMHPYCPF PLGYLDAPPG VPLQQGFRHV
SRSQYQGGGL VSEPGGDFQP SYYLPPPPPP LPPLPPLPPQ PQFLPPGYLS ALHFLPPPPP
PPPPSSFSLT VLFDTDKENT DDQDAEVLSG EPSQPSSQEQ SD
