O14793 · GDF8_HUMAN
- ProteinGrowth/differentiation factor 8
- GeneMSTN
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids375 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Acts specifically as a negative regulator of skeletal muscle growth.
Features
Showing features for site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Site | 98-99 | Cleavage | ||||
Sequence: RD |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Molecular function
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameGrowth/differentiation factor 8
- Short namesGDF-8
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionO14793
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Muscle hypertrophy (MSLHP)
- Note
- DescriptionA condition characterized by increased muscle bulk and strength. Affected individuals are exceptionally strong.
- See alsoMIM:614160
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_014475 | 55 | in dbSNP:rs1805085 | |||
Sequence: A → T | ||||||
Natural variant | VAR_014476 | 153 | in dbSNP:rs1805086 | |||
Sequence: K → R | ||||||
Mutagenesis | 267 | Decreases SMAD3 protein signal transduction; when associated with L-268. | ||||
Sequence: D → N | ||||||
Mutagenesis | 268 | Decreases SMAD3 protein signal transduction; when associated with N-267. | ||||
Sequence: F → L | ||||||
Mutagenesis | 312 | Slightly decreased SMAD3 protein signal transduction. | ||||
Sequence: E → Q | ||||||
Mutagenesis | 315 | Increases SMAD3 protein signal transduction; when associated with M-316 and M-318. | ||||
Sequence: F → Y | ||||||
Mutagenesis | 316 | Increases SMAD3 protein signal transduction; when associated with Y-315 and M-318. | ||||
Sequence: V → M | ||||||
Mutagenesis | 318 | Increases SMAD3 protein signal transduction; when associated with Y-315 and M-316. | ||||
Sequence: L → M | ||||||
Mutagenesis | 328 | Increases SMAD3 protein signal transduction. | ||||
Sequence: H → Q | ||||||
Natural variant | VAR_052575 | 348 | in dbSNP:rs34780010 | |||
Sequence: I → T | ||||||
Mutagenesis | 355 | Increases SMAD3 protein signal transduction; when associated with Q-357. | ||||
Sequence: G → D | ||||||
Mutagenesis | 357 | Increases SMAD3 protein signal transduction; when associated with D-355. | ||||
Sequence: E → Q | ||||||
Mutagenesis | 366 | Increases SMAD3 protein signal transduction. | ||||
Sequence: A → G | ||||||
Natural variant | VAR_052576 | 371 | in dbSNP:rs16823988 | |||
Sequence: R → G |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 424 variants from UniProt as well as other sources including ClinVar and dbSNP.
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for signal, propeptide, glycosylation, chain, disulfide bond.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Signal | 1-23 | |||||
Sequence: MQKLQLCVYIYLFMLIVAGPVDL | ||||||
Propeptide | PRO_0000033950 | 24-266 | ||||
Sequence: NENSEQKENVEKEGLCNACTWRQNTKSSRIEAIKIQILSKLRLETAPNISKDVIRQLLPKAPPLRELIDQYDVQRDDSSDGSLEDDDYHATTETIITMPTESDFLMQVDGKPKCCFFKFSSKIQYNKVVKAQLWIYLRPVETPTTVFVQILRLIKPMKDGTRYTGIRSLKLDMNPGTGIWQSIDVKTVLQNWLKQPESNLGIEIKALDENGHDLAVTFPGPGEDGLNPFLEVKVTDTPKRSRR | ||||||
Glycosylation | 71 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Chain | PRO_0000033951 | 267-375 | Growth/differentiation factor 8 | |||
Sequence: DFGLDCDEHSTESRCCRYPLTVDFEAFGWDWIIAPKRYKANYCSGECEFVFLQKYPHTHLVHQANPRGSAGPCCTPTKMSPINMLYFNGKEQIIYGKIPAMVVDRCGCS | ||||||
Disulfide bond | 272↔282 | |||||
Sequence: CDEHSTESRCC | ||||||
Disulfide bond | 281↔340 | |||||
Sequence: CCRYPLTVDFEAFGWDWIIAPKRYKANYCSGECEFVFLQKYPHTHLVHQANPRGSAGPCC | ||||||
Disulfide bond | 309↔372 | |||||
Sequence: CSGECEFVFLQKYPHTHLVHQANPRGSAGPCCTPTKMSPINMLYFNGKEQIIYGKIPAMVVDRC | ||||||
Disulfide bond | 313↔374 | |||||
Sequence: CEFVFLQKYPHTHLVHQANPRGSAGPCCTPTKMSPINMLYFNGKEQIIYGKIPAMVVDRCGC | ||||||
Disulfide bond | 339 | Interchain | ||||
Sequence: C |
Post-translational modification
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.
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Homodimer; disulfide-linked (PubMed:27625211).
Interacts with WFIKKN2, leading to inhibit its activity (PubMed:12595574).
Interacts with FST3 (PubMed:17878677).
Interacts with WFIKKN2, leading to inhibit its activity (PubMed:12595574).
Interacts with FST3 (PubMed:17878677).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | O14793 | ACVR2B Q13705 | 4 | EBI-8542977, EBI-1383577 | |
BINARY | O14793 | BMP1 P13497 | 3 | EBI-8542977, EBI-489827 | |
BINARY | O14793 | FURIN P09958 | 2 | EBI-8542977, EBI-1056807 | |
BINARY | O14793 | MSTN O14793 | 6 | EBI-8542977, EBI-8542977 | |
BINARY | O14793 | WFIKKN1 Q96NZ8 | 4 | EBI-8542977, EBI-2363713 | |
BINARY | PRO_0000033950 | MSTN PRO_0000033951 O14793 | 3 | EBI-20717185, EBI-20717179 |
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Sequence
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
- Length375
- Mass (Da)42,750
- Last updated1998-01-01 v1
- ChecksumEBFF6129725E6AFA
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF019627 EMBL· GenBank· DDBJ | AAB86694.1 EMBL· GenBank· DDBJ | mRNA | ||
AF104922 EMBL· GenBank· DDBJ | AAC96327.1 EMBL· GenBank· DDBJ | mRNA | ||
DQ927096 EMBL· GenBank· DDBJ | ABI48419.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
DQ927098 EMBL· GenBank· DDBJ | ABI48421.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
DQ927099 EMBL· GenBank· DDBJ | ABI48422.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC074757 EMBL· GenBank· DDBJ | AAH74757.2 EMBL· GenBank· DDBJ | mRNA |