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Protein

Growth/differentiation factor 8

Gene

MSTN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Acts specifically as a negative regulator of skeletal muscle growth.By similarity

GO - Molecular functioni

  • cytokine activity Source: GO_Central
  • growth factor activity Source: ProtInc
  • heparin binding Source: UniProtKB-KW
  • identical protein binding Source: UniProtKB
  • protein homodimerization activity Source: Ensembl
  • signaling receptor binding Source: BHF-UCL
  • transforming growth factor beta receptor binding Source: GO_Central

GO - Biological processi

Keywordsi

Molecular functionCytokine, Growth factor, Heparin-binding

Enzyme and pathway databases

SIGNORiO14793

Names & Taxonomyi

Protein namesi
Recommended name:
Growth/differentiation factor 8
Short name:
GDF-8
Alternative name(s):
Myostatin
Gene namesi
Name:MSTN
Synonyms:GDF8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000138379.4
HGNCiHGNC:4223 MSTN
MIMi601788 gene
neXtProtiNX_O14793

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Muscle hypertrophy (MSLHP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition characterized by increased muscle bulk and strength. Affected individuals are exceptionally strong.
See also OMIM:614160

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi267D → N: Decreases SMAD3 protein signal transduction; when associated with L-268. 1 Publication1
Mutagenesisi268F → L: Decreases SMAD3 protein signal transduction; when associated with N-267. 1 Publication1
Mutagenesisi312E → Q: Slightly decreased SMAD3 protein signal transduction. 1 Publication1
Mutagenesisi315F → Y: Increases SMAD3 protein signal transduction; when associated with M-316 and M-318. 1 Publication1
Mutagenesisi316V → M: Increases SMAD3 protein signal transduction; when associated with Y-315 and M-318. 1 Publication1
Mutagenesisi318L → M: Increases SMAD3 protein signal transduction; when associated with Y-315 and M-316. 1 Publication1
Mutagenesisi328H → Q: Increases SMAD3 protein signal transduction. 1 Publication1
Mutagenesisi355G → D: Increases SMAD3 protein signal transduction; when associated with Q-357. 1 Publication1
Mutagenesisi357E → Q: Increases SMAD3 protein signal transduction; when associated with D-355. 1 Publication1
Mutagenesisi366A → G: Increases SMAD3 protein signal transduction. 1 Publication1

Organism-specific databases

DisGeNETi2660
GeneReviewsiMSTN
MalaCardsiMSTN
MIMi614160 phenotype
OpenTargetsiENSG00000138379
Orphaneti275534 Myostatin-related muscle hypertrophy
PharmGKBiPA162396253

Chemistry databases

ChEMBLiCHEMBL3407325
DrugBankiDB05915 MYO-029

Polymorphism and mutation databases

BioMutaiMSTN

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
PropeptideiPRO_000003395024 – 266Sequence analysisAdd BLAST243
ChainiPRO_0000033951267 – 375Growth/differentiation factor 8Add BLAST109

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi71N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi272 ↔ 282Combined sources1 Publication
Disulfide bondi281 ↔ 340Combined sources1 Publication
Disulfide bondi309 ↔ 372Combined sources1 Publication
Disulfide bondi313 ↔ 374Combined sources1 Publication
Disulfide bondi339InterchainCombined sources1 Publication

Post-translational modificationi

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.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei98 – 99CleavageBy similarity2

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiO14793
PeptideAtlasiO14793
PRIDEiO14793
ProteomicsDBi48243

PTM databases

iPTMnetiO14793
PhosphoSitePlusiO14793

Expressioni

Gene expression databases

BgeeiENSG00000138379 Expressed in 98 organ(s), highest expression level in quadriceps femoris
CleanExiHS_MSTN
ExpressionAtlasiO14793 baseline and differential
GenevisibleiO14793 HS

Organism-specific databases

HPAiCAB009963

Interactioni

Subunit structurei

Homodimer; disulfide-linked (PubMed:27625211). Interacts with WFIKKN2, leading to inhibit its activity (PubMed:12595574). Interacts with FST3 (PubMed:17878677).3 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108929, 3 interactors
IntActiO14793, 4 interactors
MINTiO14793
STRINGi9606.ENSP00000260950

Chemistry databases

BindingDBiO14793

Structurei

Secondary structure

1375
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO14793
SMRiO14793
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TGF-beta family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3900 Eukaryota
ENOG410XT8Z LUCA
GeneTreeiENSGT00910000143982
HOGENOMiHOG000006566
HOVERGENiHBG000217
InParanoidiO14793
KOiK05497
OMAiNTKYSRI
OrthoDBiEOG091G078V
PhylomeDBiO14793
TreeFamiTF318514

Family and domain databases

Gene3Di2.10.90.10, 1 hit
InterProiView protein in InterPro
IPR029034 Cystine-knot_cytokine
IPR015616 GDF_8
IPR001839 TGF-b_C
IPR001111 TGF-b_propeptide
IPR015615 TGF-beta-rel
IPR017948 TGFb_CS
PANTHERiPTHR11848 PTHR11848, 1 hit
PTHR11848:SF150 PTHR11848:SF150, 1 hit
PfamiView protein in Pfam
PF00019 TGF_beta, 1 hit
PF00688 TGFb_propeptide, 1 hit
SMARTiView protein in SMART
SM00204 TGFB, 1 hit
SUPFAMiSSF57501 SSF57501, 1 hit
PROSITEiView protein in PROSITE
PS00250 TGF_BETA_1, 1 hit
PS51362 TGF_BETA_2, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

O14793-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MQKLQLCVYI YLFMLIVAGP VDLNENSEQK ENVEKEGLCN ACTWRQNTKS
60 70 80 90 100
SRIEAIKIQI LSKLRLETAP NISKDVIRQL LPKAPPLREL IDQYDVQRDD
110 120 130 140 150
SSDGSLEDDD YHATTETIIT MPTESDFLMQ VDGKPKCCFF KFSSKIQYNK
160 170 180 190 200
VVKAQLWIYL RPVETPTTVF VQILRLIKPM KDGTRYTGIR SLKLDMNPGT
210 220 230 240 250
GIWQSIDVKT VLQNWLKQPE SNLGIEIKAL DENGHDLAVT FPGPGEDGLN
260 270 280 290 300
PFLEVKVTDT PKRSRRDFGL DCDEHSTESR CCRYPLTVDF EAFGWDWIIA
310 320 330 340 350
PKRYKANYCS GECEFVFLQK YPHTHLVHQA NPRGSAGPCC TPTKMSPINM
360 370
LYFNGKEQII YGKIPAMVVD RCGCS
Length:375
Mass (Da):42,750
Last modified:January 1, 1998 - v1
Checksum:iEBFF6129725E6AFA
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01447555A → T1 PublicationCorresponds to variant dbSNP:rs1805085EnsemblClinVar.1
Natural variantiVAR_014476153K → R1 PublicationCorresponds to variant dbSNP:rs1805086EnsemblClinVar.1
Natural variantiVAR_052575348I → T. Corresponds to variant dbSNP:rs34780010Ensembl.1
Natural variantiVAR_052576371R → G. Corresponds to variant dbSNP:rs16823988Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF019627 mRNA Translation: AAB86694.1
AF104922 mRNA Translation: AAC96327.1
DQ927096 Genomic DNA Translation: ABI48419.1
DQ927098 Genomic DNA Translation: ABI48421.1
DQ927099 Genomic DNA Translation: ABI48422.1
BC074757 mRNA Translation: AAH74757.2
CCDSiCCDS2303.1
RefSeqiNP_005250.1, NM_005259.2
UniGeneiHs.41565

Genome annotation databases

EnsembliENST00000260950; ENSP00000260950; ENSG00000138379
GeneIDi2660
KEGGihsa:2660

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Wikipedia

Myostatin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF019627 mRNA Translation: AAB86694.1
AF104922 mRNA Translation: AAC96327.1
DQ927096 Genomic DNA Translation: ABI48419.1
DQ927098 Genomic DNA Translation: ABI48421.1
DQ927099 Genomic DNA Translation: ABI48422.1
BC074757 mRNA Translation: AAH74757.2
CCDSiCCDS2303.1
RefSeqiNP_005250.1, NM_005259.2
UniGeneiHs.41565

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5F3BX-ray1.76C/D267-375[»]
5F3HX-ray2.70I/J/K/L268-375[»]
5NTUX-ray2.58A/B43-375[»]
5NXSX-ray4.19A/B43-375[»]
ProteinModelPortaliO14793
SMRiO14793
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108929, 3 interactors
IntActiO14793, 4 interactors
MINTiO14793
STRINGi9606.ENSP00000260950

Chemistry databases

BindingDBiO14793
ChEMBLiCHEMBL3407325
DrugBankiDB05915 MYO-029

PTM databases

iPTMnetiO14793
PhosphoSitePlusiO14793

Polymorphism and mutation databases

BioMutaiMSTN

Proteomic databases

PaxDbiO14793
PeptideAtlasiO14793
PRIDEiO14793
ProteomicsDBi48243

Protocols and materials databases

DNASUi2660
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000260950; ENSP00000260950; ENSG00000138379
GeneIDi2660
KEGGihsa:2660

Organism-specific databases

CTDi2660
DisGeNETi2660
EuPathDBiHostDB:ENSG00000138379.4
GeneCardsiMSTN
GeneReviewsiMSTN
HGNCiHGNC:4223 MSTN
HPAiCAB009963
MalaCardsiMSTN
MIMi601788 gene
614160 phenotype
neXtProtiNX_O14793
OpenTargetsiENSG00000138379
Orphaneti275534 Myostatin-related muscle hypertrophy
PharmGKBiPA162396253
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3900 Eukaryota
ENOG410XT8Z LUCA
GeneTreeiENSGT00910000143982
HOGENOMiHOG000006566
HOVERGENiHBG000217
InParanoidiO14793
KOiK05497
OMAiNTKYSRI
OrthoDBiEOG091G078V
PhylomeDBiO14793
TreeFamiTF318514

Enzyme and pathway databases

SIGNORiO14793

Miscellaneous databases

GeneWikiiMyostatin
GenomeRNAii2660
PROiPR:O14793
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138379 Expressed in 98 organ(s), highest expression level in quadriceps femoris
CleanExiHS_MSTN
ExpressionAtlasiO14793 baseline and differential
GenevisibleiO14793 HS

Family and domain databases

Gene3Di2.10.90.10, 1 hit
InterProiView protein in InterPro
IPR029034 Cystine-knot_cytokine
IPR015616 GDF_8
IPR001839 TGF-b_C
IPR001111 TGF-b_propeptide
IPR015615 TGF-beta-rel
IPR017948 TGFb_CS
PANTHERiPTHR11848 PTHR11848, 1 hit
PTHR11848:SF150 PTHR11848:SF150, 1 hit
PfamiView protein in Pfam
PF00019 TGF_beta, 1 hit
PF00688 TGFb_propeptide, 1 hit
SMARTiView protein in SMART
SM00204 TGFB, 1 hit
SUPFAMiSSF57501 SSF57501, 1 hit
PROSITEiView protein in PROSITE
PS00250 TGF_BETA_1, 1 hit
PS51362 TGF_BETA_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGDF8_HUMAN
AccessioniPrimary (citable) accession number: O14793
Secondary accession number(s): A1C2J7, A1C2K0, Q6B0H2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 1, 1998
Last modified: November 7, 2018
This is version 163 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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