DUX3_HUMAN
ID DUX3_HUMAN Reviewed; 197 AA.
AC Q96PT4; Q9UND2;
DT 17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 25-MAY-2022, entry version 106.
DE RecName: Full=Putative double homeobox protein 3;
GN Name=DUX3;
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 [GENOMIC DNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY,
RP ALTERNATIVE SPLICING, AND DEVELOPMENTAL STAGE.
RC TISSUE=Blood;
RX PubMed=11245978; DOI=10.1016/s0378-1119(00)00602-8;
RA Beckers M.-C., Gabrieels J., van der Maarel S., De Vriese A., Frants R.R.,
RA Collen D., Belayew A.;
RT "Active genes in junk DNA? Characterization of DUX genes embedded within
RT 3.3 kb repeated elements.";
RL Gene 264:51-57(2001).
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96PT4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96PT4-2; Sequence=VSP_020958;
CC -!- TISSUE SPECIFICITY: Expressed in hepatoma Hep3B cells.
CC {ECO:0000269|PubMed:11245978}.
CC -!- DEVELOPMENTAL STAGE: Expressed in fetal tissue.
CC {ECO:0000269|PubMed:11245978}.
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. May be
CC functional despite lack of introns and of a poly(A) addition signal.
CC -!- SIMILARITY: Belongs to the paired homeobox family. {ECO:0000305}.
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DR EMBL; AF133130; AAL02242.1; -; Genomic_DNA.
DR EMBL; AF133130; AAD33597.1; -; Genomic_DNA.
DR AlphaFoldDB; Q96PT4; -.
DR SMR; Q96PT4; -.
DR BioGRID; 117751; 27.
DR IntAct; Q96PT4; 4.
DR MINT; Q96PT4; -.
DR BioMuta; HGNC:3081; -.
DR DMDM; 74717114; -.
DR MassIVE; Q96PT4; -.
DR PeptideAtlas; Q96PT4; -.
DR PRIDE; Q96PT4; -.
DR DNASU; 26582; -.
DR GeneCards; DUX3; -.
DR HGNC; HGNC:3081; DUX3.
DR MIM; 611443; gene.
DR neXtProt; NX_Q96PT4; -.
DR PharmGKB; PA27537; -.
DR InParanoid; Q96PT4; -.
DR PhylomeDB; Q96PT4; -.
DR PathwayCommons; Q96PT4; -.
DR SignaLink; Q96PT4; -.
DR Pharos; Q96PT4; Tdark.
DR PRO; PR:Q96PT4; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q96PT4; protein.
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:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
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; 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 2: Evidence at transcript level;
KW Alternative splicing; DNA-binding; Homeobox; Nucleus; Reference proteome;
KW Repeat.
FT CHAIN 1..197
FT /note="Putative double homeobox protein 3"
FT /id="PRO_0000252412"
FT DNA_BIND 46..105
FT /note="Homeobox 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT DNA_BIND 121..180
FT /note="Homeobox 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 102..127
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..27
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_020958"
SQ SEQUENCE 197 AA; 22130 MW; 4545E2738BFCE954 CRC64;
MPAEVHGSPP ASLCPCPSVK FRPGLPAMAL LTALDDTLPE EAQGPGRRMI LLSTPSQSDA
LRACFERNLY PGIATKEQLA QGIDIPEPRV QIWFQNERSC QLRQHRRQSR PWPGRRDPQK
GRRKRTAITG SQTALLLRAF EKDRFPGIPA REELARETGL PESRIQLWFQ NRRARHWGQS
GRAPTQASIR CNAAPIG