MYOCD
entrez
93649
canonical
uniprot
Q8IZQ8
canonical
ensembl
ENSG00000141052
resolver
ensp
ENSP00000341835
resolver
ensp
ENSP00000401678
resolver
ensp
ENSP00000530925
resolver
ensp
ENSP00000638191
resolver
genesymbol
MYOCD
resolver
genesymbol_syn
MYCD
resolver
hgnc
HGNC:16067
resolver
uniprot
Q5UBU5
resolver
uniprot
Q8N7Q1
resolver
uniprot_entry
MYCD_HUMAN
resolver
uniprot_sec
Q5UBU5
resolver
uniprot_sec
Q8N7Q1
resolver
amino_acid_sequence
MTLLGSEHSLLIRSKFRSVLQLRLQQRRTQEQLANQGIIPPLKRPAEFHEQRKHLDSDKAKNSLKRKARNRCNSADLVNMHILQASTAERSIPTAQMKLKRARLADDLNEKIALRPGPLELVEKNILPVDSAVKEAIKGNQVSFSKSTDAFAFEEDSSSDGLSPDQTRSEDPQNSAGSPPDAKASDTPSTGSLGTNQDLASGSENDRNDSASQPSHQSDAGKQGLGPPSTPIAVHAAVKSKSLGDSKNRHKKPKDPKPKVKKLKYHQYIPPDQKAEKSPPPMDSAYARLLQQQQLFLQLQILSQQQQQQQHRFSYLGMHQAQLKEPNEQMVRNPNSSSTPLSNTPLSPVKNSFSGQTGVSSFKPGPLPPNLDDLKVSELRQQLRIRGLPVSGTKTALMDRLRPFQDCSGNPVPNFGDITTVTFPVTPNTLPNYQSSSSTSALSNGFYHFGSTSSSPPISPASSDLSVAGSLPDTFNDASPSFGLHPSPVHVCTEESLMSSLNGGSVPSELDGLDSEKDKMLVEKQKVINELTWKLQQEQRQVEELRMQLQKQKRNNCSEKKPLPFLAASIKQEEAVSSCPFASQVPVKRQSSSSECHPPACEAAQLQPLGNAHCVESSDQTNVLSSTFLSPQCSPQHSPLGAVKSPQHISLPPSPNNPHFLPSSSGAQGEGHRVSSPISSQVCTAQMAGLHSSDKVGPKFSIPSPTFSKSSSAISEVTQPPSYEDAVKQQMTRSQQMDELLDVLIESGEMPADAREDHSCLQKVPKIPRSSRSPTAVLTKPSASFEQASSGSQIPFDPYATDSDEHLEVLLNSQSPLGKMSDVTLLKIGSEEPHFDGIMDGFSGKAAEDLFNAHEILPGPLSPMQTQFSPSSVDSNGLQLSFTESPWETMEWLDLTPPNSTPGFSALTTSSPSIFNIDFLDVTDLNLNSSMDLHLQQW
uniprot
proteins
disease_involvement
DISEASE: Megabladder, congenital (MGBL) [MIM:618719]: An autosomal dominant congenital anomaly characterized by a massively dilated urinary bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, and incomplete penetrance. Affected males frequently die in utero. {ECO:0000269|PubMed:31513549}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Smooth muscle cells (SM) and cardiac muscle cells-specific transcriptional factor which uses the canonical single or multiple CArG boxes DNA sequence. Acts as a cofactor of serum response factor (SRF) with the potential to modulate SRF-target genes. Plays a crucial role in cardiogenesis, urinary bladder development, and differentiation of the smooth muscle cell lineage (myogenesis) (By similarity). Positively regulates the transcription of genes involved in vascular smooth muscle contraction (By similarity). {ECO:0000250, ECO:0000250|UniProtKB:Q8R5I7, ECO:0000269|PubMed:12640126, ECO:0000269|PubMed:31513549}.
uniprot
proteins
mass_dalton
101997
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated; by STUB1/CHIP at the C-terminus, leading to its degradation by the proteasome (By similarity). Phosphorylation by GSK3B is required for STUB1/CHIP-mediated ubiquitination (By similarity). {ECO:0000250|UniProtKB:Q8R5I7}.; PTM: Phosphorylation negatively regulates the intrinsic myocardin transcriptional activity (By similarity). Phosphorylated; by GSK3B (By similarity). {ECO:0000250|UniProtKB:Q8R5I7, ECO:0000250|UniProtKB:Q8VIM5}.
uniprot
proteins
pubmed
12397177
uniprot
proteins
pubmed
12640126
uniprot
proteins
pubmed
12920479
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15907818
uniprot
proteins
pubmed
16054032
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
20385216
uniprot
proteins
pubmed
31513549
uniprot
proteins
sequence_length
938
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
uniprot
proteins