Q6RFH8
uniprot
Q6RFH8
canonical
amino_acid_sequence
MALPTPSDSTLPAEARGRGRRRRLVWTPSQSEALRACFERNPYPGIATRERLAQAIGIPEPRVQIWFQNERSRQLRQHRRESRPWPGRRGPPEGRRKRTAVTGSQTALLLRAFEKDRFPGIAAREELARETGLPESRIQIWFQNRRARHPGQGGRAPAQAGGLCSAAPGGGHPAPSWVAFAHTGAWGTGLPAPHVPCAPGALPQGAFVSQAARAAPALQPSQAAPAEGISQPAPARGDFAYAAPAPPDGALSHPQAPRWPPHPGKSREDRDPQRDGLPGPCAVAQPGPAQAGPQGQGVLAPPTSQGSPWWGWGRGPQVAGAAWEPQAGAAPPPQPAPPDASAASTDASHPGASQPLQEPGRSSTVTSSLLYELL
uniprot
proteins
disease_involvement
DISEASE: Note=Up-regulated in myoblasts of facioscapulohumeral muscular dystrophy (FSHD) patients (at protein level) (PubMed:19829708). Overexpression in primary myoblasts results in disorganized myotubes, troponin T delocalization, and abnormal beta-catenin accumulation following differentiation, suggesting that DUX4L9 up-regulation may contribute to DUX4 toxicity in FSHD (PubMed:29329560). {ECO:0000269|PubMed:19829708, ECO:0000269|PubMed:29329560}.
uniprot
proteins
function
FUNCTION: Down-regulates MYOD1 expression and may up-regulate MYF5 expression (PubMed:19829708). May regulate microRNA (miRNA) transcription, up-regulating the expression of some myogenic miRNAs, including MIR1-1, MIR133A2, MIR133B and MIR206 (PubMed:24145033). Impairs the differentiation of myoblasts and may be involved in muscle regeneration (PubMed:18723017, PubMed:36882853). Reduces DUX4-induced nuclear localization of CTNNB1/beta-catenin and its subsequent activation of target genes (PubMed:36158201). {ECO:0000269|PubMed:18723017, ECO:0000269|PubMed:19829708, ECO:0000269|PubMed:24145033, ECO:0000269|PubMed:36158201, ECO:0000269|PubMed:36882853}.
uniprot
proteins
mass_dalton
39442
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
18723017
uniprot
proteins
pubmed
19829708
uniprot
proteins
pubmed
24145033
uniprot
proteins
pubmed
26816005
uniprot
proteins
pubmed
29329560
uniprot
proteins
pubmed
36158201
uniprot
proteins
pubmed
36882853
uniprot
proteins
sequence_length
374
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:19829708, ECO:0000269|PubMed:26816005, ECO:0000269|PubMed:36882853}. Cytoplasm {ECO:0000269|PubMed:26816005, ECO:0000269|PubMed:36882853}. Note=Localizes to the nucleus in proliferating muscle cells but is predominantly cytoplasmic in muscle cells following differentiation. {ECO:0000269|PubMed:26816005}.
uniprot
proteins