ID A1C2E8_HUMAN Unreviewed; 375 AA.
AC A1C2E8;
DT 23-JAN-2007, integrated into UniProtKB/TrEMBL.
DT 23-JAN-2007, sequence version 1.
DT 27-MAR-2024, entry version 93.
DE RecName: Full=Growth/differentiation factor 8 {ECO:0000256|ARBA:ARBA00023852, ECO:0000256|RuleBase:RU369049};
DE Short=GDF-8 {ECO:0000256|RuleBase:RU369049};
DE AltName: Full=Myostatin {ECO:0000256|ARBA:ARBA00031866, ECO:0000256|RuleBase:RU369049};
GN Name=GDF8 {ECO:0000313|EMBL:ABI48370.1};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606 {ECO:0000313|EMBL:ABI48370.1};
RN [1] {ECO:0000313|EMBL:ABI48370.1}
RP NUCLEOTIDE SEQUENCE.
RX PubMed=17186467; DOI=10.1086/509707;
RA Saunders M.A., Good J.M., Lawrence E.C., Ferell R.E., Li W.-H.,
RA Nachman M.W.;
RT "Human adaptive evolution at myostatin (GDF8), a regulator of muscle
RT growth.";
RL Am. J. Hum. Genet. 79:1089-1097(2006).
CC -!- FUNCTION: Acts specifically as a negative regulator of skeletal muscle
CC growth. {ECO:0000256|ARBA:ARBA00023756, ECO:0000256|RuleBase:RU369049}.
CC -!- SUBUNIT: Homodimer; disulfide-linked. Interacts with WFIKKN2, leading
CC to inhibit its activity. Interacts with FSTL3.
CC {ECO:0000256|RuleBase:RU369049}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000256|ARBA:ARBA00004613,
CC ECO:0000256|RuleBase:RU369049}.
CC -!- SIMILARITY: Belongs to the TGF-beta family.
CC {ECO:0000256|ARBA:ARBA00006656, ECO:0000256|RuleBase:RU000354}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; DQ927047; ABI48370.1; -; Genomic_DNA.
DR EMBL; DQ927052; ABI48375.1; -; Genomic_DNA.
DR EMBL; DQ927060; ABI48383.1; -; Genomic_DNA.
DR EMBL; DQ927071; ABI48394.1; -; Genomic_DNA.
DR EMBL; DQ927076; ABI48399.1; -; Genomic_DNA.
DR EMBL; DQ927077; ABI48400.1; -; Genomic_DNA.
DR EMBL; DQ927095; ABI48418.1; -; Genomic_DNA.
DR EMBL; DQ927108; ABI48431.1; -; Genomic_DNA.
DR EMBL; DQ927112; ABI48435.1; -; Genomic_DNA.
DR EMBL; DQ927115; ABI48438.1; -; Genomic_DNA.
DR EMBL; DQ927118; ABI48441.1; -; Genomic_DNA.
DR EMBL; DQ927142; ABI48465.1; -; Genomic_DNA.
DR PeptideAtlas; A1C2E8; -.
DR GO; GO:0005615; C:extracellular space; IEA:UniProtKB-UniRule.
DR GO; GO:0005125; F:cytokine activity; IEA:UniProtKB-UniRule.
DR GO; GO:0008083; F:growth factor activity; IEA:UniProtKB-UniRule.
DR GO; GO:2000818; P:negative regulation of myoblast proliferation; ISS:AgBase.
DR GO; GO:1902725; P:negative regulation of satellite cell differentiation; ISS:AgBase.
DR GO; GO:1902723; P:negative regulation of skeletal muscle satellite cell proliferation; ISS:AgBase.
DR CDD; cd19388; TGF_beta_GDF8; 1.
DR Gene3D; 2.60.120.970; -; 1.
DR Gene3D; 2.10.90.10; Cystine-knot cytokines; 1.
DR InterPro; IPR029034; Cystine-knot_cytokine.
DR InterPro; IPR001839; TGF-b_C.
DR InterPro; IPR001111; TGF-b_propeptide.
DR InterPro; IPR015615; TGF-beta-rel.
DR InterPro; IPR017948; TGFb_CS.
DR PANTHER; PTHR11848:SF150; GROWTH_DIFFERENTIATION FACTOR 8; 1.
DR PANTHER; PTHR11848; TGF-BETA FAMILY; 1.
DR Pfam; PF00019; TGF_beta; 1.
DR Pfam; PF00688; TGFb_propeptide; 1.
DR SMART; SM00204; TGFB; 1.
DR SUPFAM; SSF57501; Cystine-knot cytokines; 1.
DR PROSITE; PS00250; TGF_BETA_1; 1.
DR PROSITE; PS51362; TGF_BETA_2; 1.
PE 3: Inferred from homology;
KW Cleavage on pair of basic residues {ECO:0000256|RuleBase:RU369049};
KW Cytokine {ECO:0000256|ARBA:ARBA00022514, ECO:0000256|RuleBase:RU369049};
KW Disulfide bond {ECO:0000256|RuleBase:RU369049};
KW Glycoprotein {ECO:0000256|ARBA:ARBA00023180};
KW Growth factor {ECO:0000256|ARBA:ARBA00023030,
KW ECO:0000256|RuleBase:RU000354};
KW Secreted {ECO:0000256|ARBA:ARBA00022525, ECO:0000256|RuleBase:RU369049};
KW Signal {ECO:0000256|RuleBase:RU369049, ECO:0000256|SAM:SignalP}.
FT SIGNAL 1..18
FT /evidence="ECO:0000256|SAM:SignalP"
FT CHAIN 19..375
FT /note="Growth/differentiation factor 8"
FT /evidence="ECO:0000256|SAM:SignalP"
FT /id="PRO_5010102106"
FT DOMAIN 263..375
FT /note="TGF-beta family profile"
FT /evidence="ECO:0000259|PROSITE:PS51362"
SQ SEQUENCE 375 AA; 42790 MW; E907E6DCF82C97F2 CRC64;
MQKLQLCVYI YLFMLIVAGP VDLNENSEQK ENVEKEGLCN ACTWRQNTKS SRIEXIKIQI
LSKLRLETAP NISKDVIRQL LPKAPPLREL IDQYDVQRDD SSDGSLEDDD YHATTETIIT
MPTESDFLMQ VDGKPKCCFF KFSSKIQYNK VVKAQLWIYL RPVETPTTVF VQILRLIKPM
KDGTRYTGIR SLKLDMNPGT GIWQSIDVKT VLQNWLKQPE SNLGIEIKAL DENGHDLAVT
FPGPGEDGLN PFLEVKVTDT PKRSRRDFGL DCDEHSTESR CCRYPLTVDF EAFGWDWIIA
PKRYKANYCS GECEFVFLQK YPHTHLVHQA NPRGSAGPCC TPTKMSPINM LYFNGKEQII
YGKIPAMVVD RCGCS
//