ID   DUX1_HUMAN              Reviewed;         170 AA.
AC   O43812;
DT   17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT   01-JUN-1998, sequence version 1.
DT   25-MAY-2022, entry version 130.
DE   RecName: Full=Double homeobox protein 1;
GN   Name=DUX1;
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 [MRNA], FUNCTION, SUBCELLULAR LOCATION, AND TISSUE
RP   SPECIFICITY.
RC   TISSUE=Rhabdomyosarcoma;
RX   PubMed=9736770; DOI=10.1093/hmg/7.11.1681;
RA   Ding H., Beckers M.-C., Plaisance S., Marynen P., Collen D., Belayew A.;
RT   "Characterization of a double homeodomain protein (DUX1) encoded by a cDNA
RT   homologous to 3.3-kb dispersed repeated elements.";
RL   Hum. Mol. Genet. 7:1681-1694(1998).
RN   [2]
RP   SUBCELLULAR LOCATION.
RX   PubMed=15709750; DOI=10.1021/bi047992w;
RA   Oestlund C., Garcia-Carrasquillo R.M., Belayew A., Worman H.J.;
RT   "Intracellular trafficking and dynamics of double homeodomain proteins.";
RL   Biochemistry 44:2378-2384(2005).
CC   -!- FUNCTION: Probable transcription activator. Binds the P5 DNA element
CC       sequence 5'-GATCTGAGTCTAATTGAGAATTACTGTAC-3'.
CC       {ECO:0000269|PubMed:9736770}.
CC   -!- INTERACTION:
CC       O43812; P17661: DES; NbExp=4; IntAct=EBI-11599346, EBI-1055572;
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108,
CC       ECO:0000269|PubMed:15709750, ECO:0000269|PubMed:9736770}. Note=Actively
CC       transported through the nuclear pore complex (NPC).
CC   -!- TISSUE SPECIFICITY: Expressed in rhabdomyosarcoma TE671 cells as well
CC       as in several other normal and cancer cells.
CC       {ECO:0000269|PubMed:9736770}.
CC   -!- DOMAIN: Homeobox domain 2 confers nuclear targeting.
CC   -!- MISCELLANEOUS: DUX genes are present in 3.3-kilobase elements, a tandem
CC       repeat family scattered in the genome found on the short arms of all
CC       acrocentric chromosomes as well as on several other chromosomes.
CC   -!- SIMILARITY: Belongs to the paired homeobox 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; AJ001481; CAA04776.1; -; mRNA.
DR   RefSeq; NP_036278.1; NM_012146.1.
DR   AlphaFoldDB; O43812; -.
DR   SMR; O43812; -.
DR   BioGRID; 117753; 6.
DR   IntAct; O43812; 7.
DR   TCDB; 1.I.1.1.3; the nuclear pore complex (npc) family.
DR   BioMuta; HGNC:3079; -.
DR   MassIVE; O43812; -.
DR   PeptideAtlas; O43812; -.
DR   PRIDE; O43812; -.
DR   DNASU; 26584; -.
DR   GeneID; 26584; -.
DR   KEGG; hsa:26584; -.
DR   CTD; 26584; -.
DR   DisGeNET; 26584; -.
DR   GeneCards; DUX1; -.
DR   HGNC; HGNC:3079; DUX1.
DR   MIM; 611441; gene.
DR   neXtProt; NX_O43812; -.
DR   PharmGKB; PA27535; -.
DR   InParanoid; O43812; -.
DR   PhylomeDB; O43812; -.
DR   PathwayCommons; O43812; -.
DR   SignaLink; O43812; -.
DR   GenomeRNAi; 26584; -.
DR   Pharos; O43812; Tbio.
DR   PRO; PR:O43812; -.
DR   Proteomes; UP000005640; Unplaced.
DR   RNAct; O43812; protein.
DR   GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR   GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR   GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR   GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR   GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR   GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR   CDD; cd00086; homeodomain; 2.
DR   InterPro; IPR009057; Homeobox-like_sf.
DR   InterPro; IPR017970; Homeobox_CS.
DR   InterPro; IPR001356; Homeobox_dom.
DR   InterPro; IPR000047; HTH_motif.
DR   Pfam; PF00046; Homeodomain; 2.
DR   PRINTS; PR00031; HTHREPRESSR.
DR   SMART; SM00389; HOX; 2.
DR   SUPFAM; SSF46689; SSF46689; 2.
DR   PROSITE; PS00027; HOMEOBOX_1; 1.
DR   PROSITE; PS50071; HOMEOBOX_2; 2.
PE   1: Evidence at protein level;
KW   Activator; DNA-binding; Homeobox; Nucleus; Reference proteome; Repeat;
KW   Transcription; Transcription regulation.
FT   CHAIN           1..170
FT                   /note="Double homeobox protein 1"
FT                   /id="PRO_0000252410"
FT   DNA_BIND        19..78
FT                   /note="Homeobox 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT   DNA_BIND        94..153
FT                   /note="Homeobox 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT   REGION          75..100
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   SEQUENCE   170 AA;  19347 MW;  7E3B34169B081F08 CRC64;
     MALLTALDDT LPEEAQGPGR RMILLSTPSQ SDALRACFER NLYPGIATKE ELAQGIDIPE
     PRVQIWFQNE RSCQLRQHRR QSRPWPGRRD PQKGRRKRTA ITGSQTALLL RAFEKDRFPG
     IAAREELARE TGLPESRIQI WFQNRRARHR GQSGRAPTQA SIRCNAAPIG