DUX5_HUMAN
ID DUX5_HUMAN Reviewed; 197 AA.
AC Q96PT3;
DT 17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 25-MAY-2022, entry version 108.
DE RecName: Full=Double homeobox protein 5;
GN Name=DUX5;
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], ALTERNATIVE SPLICING, TISSUE
RP SPECIFICITY, AND DEVELOPMENTAL STAGE.
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=Q96PT3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96PT3-2; Sequence=VSP_020959;
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 a poly(A) addition signal.
CC -!- SIMILARITY: Belongs to the paired homeobox family. {ECO:0000305}.
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DR EMBL; AF133131; AAD33598.1; -; Genomic_DNA.
DR EMBL; AF133131; AAL02243.1; -; Genomic_DNA.
DR RefSeq; NP_036278.1; NM_012146.1. [Q96PT3-2]
DR RefSeq; NP_036281.2; NM_012149.2. [Q96PT3-1]
DR AlphaFoldDB; Q96PT3; -.
DR SMR; Q96PT3; -.
DR BioGRID; 117753; 6.
DR BioMuta; HGNC:3083; -.
DR DMDM; 74717113; -.
DR EPD; Q96PT3; -.
DR MassIVE; Q96PT3; -.
DR PeptideAtlas; Q96PT3; -.
DR PRIDE; Q96PT3; -.
DR DNASU; 26581; -.
DR GeneID; 26581; -.
DR GeneID; 26584; -.
DR KEGG; hsa:26581; -.
DR KEGG; hsa:26584; -.
DR CTD; 26581; -.
DR CTD; 26584; -.
DR DisGeNET; 26584; -.
DR GeneCards; DUX5; -.
DR HGNC; HGNC:3083; DUX5.
DR MIM; 611444; gene.
DR neXtProt; NX_Q96PT3; -.
DR PharmGKB; PA27535; -.
DR PharmGKB; PA27539; -.
DR InParanoid; Q96PT3; -.
DR PhylomeDB; Q96PT3; -.
DR Pharos; Q96PT3; Tdark.
DR PRO; PR:Q96PT3; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q96PT3; 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; 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 2: Evidence at transcript level;
KW Alternative splicing; DNA-binding; Homeobox; Nucleus; Reference proteome;
KW Repeat.
FT CHAIN 1..197
FT /note="Double homeobox protein 5"
FT /id="PRO_0000252414"
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 101..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_020959"
FT VARIANT 60
FT /note="A -> V (in dbSNP:rs10865697)"
FT /id="VAR_059347"
FT VARIANT 118
FT /note="P -> L (in dbSNP:rs9755233)"
FT /id="VAR_059348"
FT VARIANT 119
FT /note="Q -> P (in dbSNP:rs12374009)"
FT /id="VAR_059349"
FT VARIANT 180
FT /note="S -> A (in dbSNP:rs12632317)"
FT /id="VAR_059350"
FT VARIANT 180
FT /note="S -> T (in dbSNP:rs12632317)"
FT /id="VAR_059351"
SQ SEQUENCE 197 AA; 22164 MW; 9F20E036413853F4 CRC64;
MPAEVHGSPP ASLCPCQSVK FRPGLPEMAL LTALDDTLPE EAQGPGRRMI LLSTPSQSDA
LRACFERNLY PGIATKEELA QGIDIPEPRV QIWFQNERSC QLRQHRRQSR PWPGRRDPQK
GRRKRTAITG SQTALLLRAF EKDRFPGIAA REELARETGL PESRIQIWFQ NRRARHRGQS
GRAPTQASIR CNAAPIG
