MSTN
entrez
2660
canonical
uniprot
O14793
canonical
ensembl
ENSG00000138379
resolver
ensp
ENSP00000260950
resolver
enst
ENST00000260950
resolver
genesymbol
MSTN
resolver
genesymbol_syn
GDF8
resolver
hgnc
HGNC:4223
resolver
uniprot
A1C2J7
resolver
uniprot
A1C2K0
resolver
uniprot
Q6B0H2
resolver
uniprot_entry
GDF8_HUMAN
resolver
uniprot_sec
A1C2J7
resolver
uniprot_sec
A1C2K0
resolver
uniprot_sec
Q6B0H2
resolver
amino_acid_sequence
MQKLQLCVYIYLFMLIVAGPVDLNENSEQKENVEKEGLCNACTWRQNTKSSRIEAIKIQILSKLRLETAPNISKDVIRQLLPKAPPLRELIDQYDVQRDDSSDGSLEDDDYHATTETIITMPTESDFLMQVDGKPKCCFFKFSSKIQYNKVVKAQLWIYLRPVETPTTVFVQILRLIKPMKDGTRYTGIRSLKLDMNPGTGIWQSIDVKTVLQNWLKQPESNLGIEIKALDENGHDLAVTFPGPGEDGLNPFLEVKVTDTPKRSRRDFGLDCDEHSTESRCCRYPLTVDFEAFGWDWIIAPKRYKANYCSGECEFVFLQKYPHTHLVHQANPRGSAGPCCTPTKMSPINMLYFNGKEQIIYGKIPAMVVDRCGCS
uniprot
proteins
disease_involvement
DISEASE: Muscle hypertrophy (MSLHP) [MIM:614160]: A condition characterized by increased muscle bulk and strength. Affected individuals are exceptionally strong. {ECO:0000269|PubMed:15215484}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts specifically as a negative regulator of skeletal muscle growth. {ECO:0000250|UniProtKB:O08689}.
uniprot
proteins
mass_dalton
42750
uniprot
proteins
mutagenesis
MUTAGEN 267; /note="D->N: Decreases SMAD3 protein signal transduction; when associated with L-268."; /evidence="ECO:0000269|PubMed:28257634"; MUTAGEN 268; /note="F->L: Decreases SMAD3 protein signal transduction; when associated with N-267."; /evidence="ECO:0000269|PubMed:28257634"; MUTAGEN 312; /note="E->Q: Slightly decreased SMAD3 protein signal transduction."; /evidence="ECO:0000269|PubMed:28257634"; MUTAGEN 315; /note="F->Y: Increases SMAD3 protein signal transduction; when associated with M-316 and M-318."; /evidence="ECO:0000269|PubMed:28257634"; MUTAGEN 316; /note="V->M: Increases SMAD3 protein signal transduction; when associated with Y-315 and M-318."; /evidence="ECO:0000269|PubMed:28257634"; MUTAGEN 318; /note="L->M: Increases SMAD3 protein signal transduction; when associated with Y-315 and M-316."; /evidence="ECO:0000269|PubMed:28257634"; MUTAGEN 328; /note="H->Q: Increases SMAD3 protein signal transduction."; /evidence="ECO:0000269|PubMed:28257634"; MUTAGEN 355; /note="G->D: Increases SMAD3 protein signal transduction; when associated with Q-357."; /evidence="ECO:0000269|PubMed:28257634"; MUTAGEN 357; /note="E->Q: Increases SMAD3 protein signal transduction; when associated with D-355."; /evidence="ECO:0000269|PubMed:28257634"; MUTAGEN 366; /note="A->G: Increases SMAD3 protein signal transduction."; /evidence="ECO:0000269|PubMed:28257634
uniprot
proteins
post_translational_modification
PTM: Synthesized as large precursor molecule that undergoes proteolytic cleavage to generate an N-terminal propeptide and a disulfide linked C-terminal dimer, which is the biologically active molecule. The circulating form consists of a latent complex of the C-terminal dimer and other proteins, including its propeptide, which maintain the C-terminal dimer in a latent, inactive state. Ligand activation requires additional cleavage of the prodomain by a tolloid-like metalloproteinase. {ECO:0000250|UniProtKB:O08689}.
uniprot
proteins
protein_family
TGF-beta family
uniprot
proteins
pubmed
12595574
uniprot
proteins
pubmed
15215484
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17186467
uniprot
proteins
pubmed
17878677
uniprot
proteins
pubmed
27625211
uniprot
proteins
pubmed
28257634
uniprot
proteins
pubmed
9356471
uniprot
proteins
pubmed
9843994
uniprot
proteins
sequence_length
375
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:O08689}.
uniprot
proteins