Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Growth/differentiation factor 8

Gene

MSTN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Acts specifically as a negative regulator of skeletal muscle growth.

GO - Molecular functioni

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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Cytokine, Growth factor

Keywords - Ligandi

Heparin-binding

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
ProteomesiUP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:4223. MSTN.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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

Organism-specific databases

MIMi614160. phenotype.
Orphaneti275534. Myostatin-related muscle hypertrophy.
PharmGKBiPA162396253.

Polymorphism and mutation databases

BioMutaiMSTN.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323Sequence AnalysisAdd
BLAST
Propeptidei24 – 266243Sequence AnalysisPRO_0000033950Add
BLAST
Chaini267 – 375109Growth/differentiation factor 8PRO_0000033951Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi71 – 711N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi281 ↔ 340By similarity
Disulfide bondi309 ↔ 372By similarity
Disulfide bondi313 ↔ 374By similarity
Disulfide bondi339 – 339InterchainBy similarity

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiO14793.
PeptideAtlasiO14793.
PRIDEiO14793.

PTM databases

PhosphoSiteiO14793.

Expressioni

Gene expression databases

BgeeiO14793.
CleanExiHS_MSTN.
ExpressionAtlasiO14793. baseline and differential.
GenevisibleiO14793. HS.

Organism-specific databases

HPAiCAB009963.

Interactioni

Subunit structurei

Homodimer; disulfide-linked (By similarity). Interacts with WFIKKN2, leading to inhibit its activity. Interacts with FST3.By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself2EBI-8542977,EBI-8542977
ACVR2BQ137054EBI-8542977,EBI-1383577
BMP1P134972EBI-8542977,EBI-489827
FURINP099582EBI-8542977,EBI-1056807
WFIKKN1Q96NZ84EBI-8542977,EBI-2363713

Protein-protein interaction databases

BioGridi108929. 3 interactions.
IntActiO14793. 4 interactions.
STRINGi9606.ENSP00000260950.

Structurei

3D structure databases

ProteinModelPortaliO14793.
SMRiO14793. Positions 49-375.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TGF-beta family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG310007.
GeneTreeiENSGT00760000119112.
HOGENOMiHOG000006566.
HOVERGENiHBG000217.
InParanoidiO14793.
KOiK05497.
OMAiNPFLEVR.
OrthoDBiEOG74R1Q4.
PhylomeDBiO14793.
TreeFamiTF318514.

Family and domain databases

Gene3Di2.10.90.10. 1 hit.
InterProiIPR029034. Cystine-knot_cytokine.
IPR015616. GDF_8.
IPR001839. TGF-b_C.
IPR001111. TGF-b_N.
IPR015615. TGF-beta-rel.
IPR017948. TGFb_CS.
[Graphical view]
PANTHERiPTHR11848. PTHR11848. 1 hit.
PTHR11848:SF13. PTHR11848:SF13. 1 hit.
PfamiPF00019. TGF_beta. 1 hit.
PF00688. TGFb_propeptide. 1 hit.
[Graphical view]
SMARTiSM00204. TGFB. 1 hit.
[Graphical view]
SUPFAMiSSF57501. SSF57501. 1 hit.
PROSITEiPS00250. TGF_BETA_1. 1 hit.
PS51362. TGF_BETA_2. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti55 – 551A → T.1 Publication
Corresponds to variant rs1805085 [ dbSNP | Ensembl ].
VAR_014475
Natural varianti153 – 1531K → R.1 Publication
Corresponds to variant rs1805086 [ dbSNP | Ensembl ].
VAR_014476
Natural varianti348 – 3481I → T.
Corresponds to variant rs34780010 [ dbSNP | Ensembl ].
VAR_052575
Natural varianti371 – 3711R → G.
Corresponds to variant rs16823988 [ dbSNP | Ensembl ].
VAR_052576

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.
UCSCiuc002urp.3. human.

Keywords - Coding sequence diversityi

Polymorphism

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

ProteinModelPortaliO14793.
SMRiO14793. Positions 49-375.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108929. 3 interactions.
IntActiO14793. 4 interactions.
STRINGi9606.ENSP00000260950.

PTM databases

PhosphoSiteiO14793.

Polymorphism and mutation databases

BioMutaiMSTN.

Proteomic databases

PaxDbiO14793.
PeptideAtlasiO14793.
PRIDEiO14793.

Protocols and materials databases

DNASUi2660.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000260950; ENSP00000260950; ENSG00000138379.
GeneIDi2660.
KEGGihsa:2660.
UCSCiuc002urp.3. human.

Organism-specific databases

CTDi2660.
GeneCardsiGC02M190920.
GeneReviewsiMSTN.
HGNCiHGNC:4223. MSTN.
HPAiCAB009963.
MIMi601788. gene.
614160. phenotype.
neXtProtiNX_O14793.
Orphaneti275534. Myostatin-related muscle hypertrophy.
PharmGKBiPA162396253.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG310007.
GeneTreeiENSGT00760000119112.
HOGENOMiHOG000006566.
HOVERGENiHBG000217.
InParanoidiO14793.
KOiK05497.
OMAiNPFLEVR.
OrthoDBiEOG74R1Q4.
PhylomeDBiO14793.
TreeFamiTF318514.

Miscellaneous databases

GeneWikiiMyostatin.
GenomeRNAii2660.
NextBioi10500.
PROiO14793.
SOURCEiSearch...

Gene expression databases

BgeeiO14793.
CleanExiHS_MSTN.
ExpressionAtlasiO14793. baseline and differential.
GenevisibleiO14793. HS.

Family and domain databases

Gene3Di2.10.90.10. 1 hit.
InterProiIPR029034. Cystine-knot_cytokine.
IPR015616. GDF_8.
IPR001839. TGF-b_C.
IPR001111. TGF-b_N.
IPR015615. TGF-beta-rel.
IPR017948. TGFb_CS.
[Graphical view]
PANTHERiPTHR11848. PTHR11848. 1 hit.
PTHR11848:SF13. PTHR11848:SF13. 1 hit.
PfamiPF00019. TGF_beta. 1 hit.
PF00688. TGFb_propeptide. 1 hit.
[Graphical view]
SMARTiSM00204. TGFB. 1 hit.
[Graphical view]
SUPFAMiSSF57501. SSF57501. 1 hit.
PROSITEiPS00250. TGF_BETA_1. 1 hit.
PS51362. TGF_BETA_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Double muscling in cattle due to mutations in the myostatin gene."
    McPherron A.C., Lee S.-J.
    Proc. Natl. Acad. Sci. U.S.A. 94:12457-12461(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Skeletal muscle.
  2. "Organization of the human myostatin gene and expression in healthy men and HIV-infected men with muscle wasting."
    Gonzalez-Cadavid N.F., Taylor W.E., Yarasheski K., Sinha-Hikim I., Ma K., Ezzat S., Shen R., Lalani R., Asa S., Mamita M., Nair G., Arver S., Bhasin S.
    Proc. Natl. Acad. Sci. U.S.A. 95:14938-14943(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Muscle.
  3. "Human adaptive evolution at myostatin (GDF8), a regulator of muscle growth."
    Saunders M.A., Good J.M., Lawrence E.C., Ferrell R.E., Li W.H., Nachman M.W.
    Am. J. Hum. Genet. 79:1089-1097(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-55 AND ARG-153.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Colon.
  5. "Regulation of myostatin in vivo by growth and differentiation factor-associated serum protein-1: a novel protein with protease inhibitor and follistatin domains."
    Hill J.J., Qiu Y., Hewick R.M., Wolfman N.M.
    Mol. Endocrinol. 17:1144-1154(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH WFIKKN2.
  6. "Myostatin mutation associated with gross muscle hypertrophy in a child."
    Schuelke M., Wagner K.R., Stolz L.E., Hubner C., Riebel T., Komen W., Braun T., Tobin J.F., Lee S.J.
    N. Engl. J. Med. 350:2682-2688(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN MSLHP.
  7. "Characterization of follistatin-related gene as a negative regulatory factor for activin family members during mouse heart development."
    Takehara-Kasamatsu Y., Tsuchida K., Nakatani M., Murakami T., Kurisaki A., Hashimoto O., Ohuchi H., Kurose H., Mori K., Kagami S., Noji S., Sugino H.
    J. Med. Invest. 54:276-288(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH FSTL3.

Entry informationi

Entry nameiGDF8_HUMAN
AccessioniPrimary (citable) accession number: O14793
Secondary accession number(s): A1C2J7, A1C2K0, Q6B0H2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 1, 1998
Last modified: July 22, 2015
This is version 135 of the entry and version 1 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.