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O14793

- GDF8_HUMAN

UniProt

O14793 - GDF8_HUMAN

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Protein
Growth/differentiation factor 8
Gene
MSTN, GDF8
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  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
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: Chromosome 2

Organism-specific databases

HGNCiHGNC:4223. MSTN.

Subcellular locationi

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323 Reviewed prediction
Add
BLAST
Propeptidei24 – 266243 Reviewed prediction
PRO_0000033950Add
BLAST
Chaini267 – 375109Growth/differentiation factor 8
PRO_0000033951Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi71 – 711N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi281 ↔ 340 By similarity
Disulfide bondi309 ↔ 372 By similarity
Disulfide bondi313 ↔ 374 By similarity
Disulfide bondi339 – 339Interchain By 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 FST3.2 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.

Family & Domainsi

Sequence similaritiesi

Belongs to the TGF-beta family.

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

« 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 9, 2014
This is version 126 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

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