Gene name: DUX4

Uniprot entry:

Q9UBX2

Protein names:

Double homeobox protein 4 (Double homeobox protein 10)

Protein sequence:

1_MALPT 6_ PSDST 11_ LPAEA 16_ RGRGR 21_ RRRLV 26_ WTPSQ 31_ SEALR 36_ ACFER 41_ NPYPG 46_ IATRE 51_ RLAQA 56_ IGIPE 61_ PRVQI 66_ WFQNE 71_ RSRQL 76_ RQHRR 81_ ESRPW 86_ PGRRG 91_ PPEGR 96_ RKRTA 101_ VTGSQ 106_ TALLL 111_ RAFEK 116_ DRFPG 121_ IAARE 126_ ELARE 131_ TGLPE 136_ SRIQI 141_ WFQNR 146_ RARHP 151_ GQGGR 156_ APAQA 161_ GGLCS 166_ AAPGG 171_ GHPAP 176_ SWVAF 181_ AHTGA 186_ WGTGL 191_ PAPHV 196_ PCAPG 201_ ALPQG 206_ AFVSQ 211_ AARAA 216_ PALQP 221_ SQAAP 226_ AEGIS 231_ QPAPA 236_ RGDFA 241_ YAAPA 246_ PPDGA 251_ LSHPQ 256_ APRWP 261_ PHPGK 266_ SREDR 271_ DPQRD 276_ GLPGP 281_ CAVAQ 286_ PGPAQ 291_ AGPQG 296_ QGVLA 301_ PPTSQ 306_ GSPWW 311_ GWGRG 316_ PQVAG 321_ AAWEP 326_ QAGAA 331_ PPPQP 336_ APPDA 341_ SASAR 346_ QGQMQ 351_ GIPAP 356_ SQALQ 361_ EPAPW 366_ SALPC 371_ GLLLD 376_ ELLAS 381_ PEFLQ 386_ QAQPL 391_ LETEA 396_ PGELE 401_ ASEEA 406_ ASLEA 411_ PLSEE 416_EYRAL

Protein annotations

Protein functions:

1: Transcription factor that is selectively and transiently expressed in cleavage-stage embryos (PubMed:28459457). Binds to double-stranded DNA elements with the consensus sequence 5'-TAATCTAATCA-3' (PubMed:28459454, PubMed:28459457, PubMed:29572508, PubMed:30315230, PubMed:30540931). Binds to chromatin containing histone H3 acetylated at 'Lys-27' (H3K27ac) and promotes deacetylation of H3K27ac. In parallel, binds to chromatin that lacks histone H3 acetylation at 'Lys-27' (H3K27ac) and recruits EP300 and CREBBP to promote acetylation of histone H3 at 'Lys-27' at new sites (PubMed:26951377). Involved in transcriptional regulation of numerous genes, primarily as transcriptional activator, but also mediates repression of a set of target genes (PubMed:17984056, PubMed:26951377, PubMed:27378237, PubMed:28459454, PubMed:28459457, PubMed:29572508, PubMed:29618456, PubMed:30540931). Promotes expression of ZSCAN4 and KDM4E, two proteins with essential roles during early embryogenesis (PubMed:26951377, PubMed:27378237, PubMed:28459457, PubMed:29618456). Promotes nuclear translocation of CTNNB1/beta-catenin and its subsequent activation of target genes (PubMed:36158201). Heterologous expression in cultured embryonic stem cells mediates transcription of HERVL retrotransposons and transcripts derived from ACRO1 and HSATII satellite repeats (PubMed:28459457). May activate expression of PITX1 (PubMed:17984056). May regulate microRNA (miRNA) expression (PubMed:24145033). Inappropriate expression can inhibit myogenesis and promote apoptosis (PubMed:26951377, PubMed:28935672, PubMed:29618456)

2: Probably inactive as a transcriptional activator, due to the absence of the C-terminal region that is important for transcriptional activation. Can inhibit transcriptional activation mediated by isoform 1. Heterologous expression of isoform 2 has no deleterious effect on cell survival