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O14793

- GDF8_HUMAN

UniProt

O14793 - GDF8_HUMAN

Protein

Growth/differentiation factor 8

Gene

MSTN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 1 (01 Jan 1998)
      Previous versions | rss
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    Functioni

    Acts specifically as a negative regulator of skeletal muscle growth.

    GO - Molecular functioni

    1. growth factor activity Source: ProtInc
    2. heparin binding Source: UniProtKB-KW
    3. identical protein binding Source: IntAct
    4. protein binding Source: IntAct
    5. receptor binding Source: HGNC

    GO - Biological processi

    1. muscle organ development Source: ProtInc
    2. negative regulation of muscle hypertrophy Source: Ensembl
    3. negative regulation of skeletal muscle tissue growth Source: Ensembl
    4. ovulation cycle process Source: Ensembl
    5. positive regulation of transcription, DNA-templated Source: HGNC
    6. response to electrical stimulus Source: Ensembl
    7. response to estrogen Source: Ensembl
    8. response to ethanol Source: Ensembl
    9. response to glucocorticoid Source: Ensembl
    10. response to gravity Source: Ensembl
    11. response to heat Source: Ensembl
    12. response to muscle activity Source: Ensembl
    13. response to testosterone Source: Ensembl
    14. skeletal muscle atrophy Source: Ensembl
    15. skeletal muscle tissue regeneration Source: Ensembl
    16. transforming growth factor beta receptor signaling pathway Source: Ensembl

    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: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:4223. MSTN.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: Ensembl
    2. extracellular space Source: UniProtKB-KW

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Muscle hypertrophy (MSLHP) [MIM:614160]: A condition characterized by increased muscle bulk and strength. Affected individuals are exceptionally strong.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

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

    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

    ArrayExpressiO14793.
    BgeeiO14793.
    CleanExiHS_MSTN.
    GenevestigatoriO14793.

    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
    WFIKKN1Q96NZ84EBI-8542977,EBI-2363713

    Protein-protein interaction databases

    BioGridi108929. 4 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.
    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

    MQKLQLCVYI YLFMLIVAGP VDLNENSEQK ENVEKEGLCN ACTWRQNTKS    50
    SRIEAIKIQI LSKLRLETAP NISKDVIRQL LPKAPPLREL IDQYDVQRDD 100
    SSDGSLEDDD YHATTETIIT MPTESDFLMQ VDGKPKCCFF KFSSKIQYNK 150
    VVKAQLWIYL RPVETPTTVF VQILRLIKPM KDGTRYTGIR SLKLDMNPGT 200
    GIWQSIDVKT VLQNWLKQPE SNLGIEIKAL DENGHDLAVT FPGPGEDGLN 250
    PFLEVKVTDT PKRSRRDFGL DCDEHSTESR CCRYPLTVDF EAFGWDWIIA 300
    PKRYKANYCS GECEFVFLQK YPHTHLVHQA NPRGSAGPCC TPTKMSPINM 350
    LYFNGKEQII YGKIPAMVVD RCGCS 375
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS2303.1.
    RefSeqi NP_005250.1. NM_005259.2.
    UniGenei Hs.41565.

    3D structure databases

    ProteinModelPortali O14793.
    SMRi O14793. Positions 49-375.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108929. 4 interactions.
    IntActi O14793. 4 interactions.
    STRINGi 9606.ENSP00000260950.

    PTM databases

    PhosphoSitei O14793.

    Proteomic databases

    PaxDbi O14793.
    PeptideAtlasi O14793.
    PRIDEi O14793.

    Protocols and materials databases

    DNASUi 2660.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000260950 ; ENSP00000260950 ; ENSG00000138379 .
    GeneIDi 2660.
    KEGGi hsa:2660.
    UCSCi uc002urp.3. human.

    Organism-specific databases

    CTDi 2660.
    GeneCardsi GC02M190920.
    GeneReviewsi MSTN.
    HGNCi HGNC:4223. MSTN.
    HPAi CAB009963.
    MIMi 601788. gene.
    614160. phenotype.
    neXtProti NX_O14793.
    Orphaneti 275534. Myostatin-related muscle hypertrophy.
    PharmGKBi PA162396253.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG310007.
    HOGENOMi HOG000006566.
    HOVERGENi HBG000217.
    InParanoidi O14793.
    KOi K05497.
    OMAi NPFLEVR.
    OrthoDBi EOG74R1Q4.
    PhylomeDBi O14793.
    TreeFami TF318514.

    Miscellaneous databases

    GeneWikii Myostatin.
    GenomeRNAii 2660.
    NextBioi 10500.
    PROi O14793.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O14793.
    Bgeei O14793.
    CleanExi HS_MSTN.
    Genevestigatori O14793.

    Family and domain databases

    Gene3Di 2.10.90.10. 1 hit.
    InterProi IPR029034. Cystine-knot_cytokine.
    IPR015616. GDF_8.
    IPR001839. TGF-b_C.
    IPR001111. TGF-b_N.
    IPR015615. TGF-beta-rel.
    IPR017948. TGFb_CS.
    [Graphical view ]
    PANTHERi PTHR11848. PTHR11848. 1 hit.
    PTHR11848:SF13. PTHR11848:SF13. 1 hit.
    Pfami PF00019. TGF_beta. 1 hit.
    PF00688. TGFb_propeptide. 1 hit.
    [Graphical view ]
    SMARTi SM00204. TGFB. 1 hit.
    [Graphical view ]
    SUPFAMi SSF57501. SSF57501. 1 hit.
    PROSITEi PS00250. TGF_BETA_1. 1 hit.
    PS51362. TGF_BETA_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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: October 1, 2014
    This is version 127 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