GDF11
entrez
10220
canonical
uniprot
O95390
canonical
ensembl
ENSG00000135414
resolver
ensp
ENSP00000257868
resolver
ensp
ENSP00000448390
resolver
enst
ENST00000257868
resolver
genesymbol
GDF11
resolver
genesymbol_syn
BMP11
resolver
hgnc
HGNC:4216
resolver
uniprot
Q9UID1
resolver
uniprot
Q9UID2
resolver
uniprot_entry
GDF11_HUMAN
resolver
uniprot_sec
Q9UID1
resolver
uniprot_sec
Q9UID2
resolver
amino_acid_sequence
MVLAAPLLLGFLLLALELRPRGEAAEGPAAAAAAAAAAAAAGVGGERSSRPAPSVAPEPDGCPVCVWRQHSRELRLESIKSQILSKLRLKEAPNISREVVKQLLPKAPPLQQILDLHDFQGDALQPEDFLEEDEYHATTETVISMAQETDPAVQTDGSPLCCHFHFSPKVMFTKVLKAQLWVYLRPVPRPATVYLQILRLKPLTGEGTAGGGGGGRRHIRIRSLKIELHSRSGHWQSIDFKQVLHSWFRQPQSNWGIEINAFDPSGTDLAVTSLGPGAEGLHPFMELRVLENTKRSRRNLGLDCDEHSSESRCCRYPLTVDFEAFGWDWIIAPKRYKANYCSGQCEYMFMQKYPHTHLVQQANPRGSAGPCCTPTKMSPINMLYFNDKQQIIYGKIPGMVVDRCGCS
uniprot
proteins
disease_involvement
DISEASE: Vertebral hypersegmentation and orofacial anomalies (VHO) [MIM:619122]: An autosomal dominant disease characterized by supernumerary ribs, supernumerary cervical, thoracic and/or lumbar vertebrae, and orofacial anomalies such as cleft lip with or without cleft palate in most patients. {ECO:0000269|PubMed:31215115}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Secreted signal that acts globally to regulate anterior/posterior axial patterning during development. May play critical roles in patterning both mesodermal and neural tissues (By similarity). It is required for proper vertebral patterning and orofacial development (PubMed:31215115). Signals through activin receptors type-2, ACVR2A and ACVR2B, and activin receptors type-1, ACVR1B, ACVR1C and TGFBR1 leading to the phosphorylation of SMAD2 and SMAD3 (PubMed:28257634). {ECO:0000250|UniProtKB:Q9Z1W4, ECO:0000269|PubMed:28257634, ECO:0000269|PubMed:31215115}.
uniprot
proteins
mass_dalton
45091
uniprot
proteins
post_translational_modification
PTM: Synthesized as large precursor molecule that undergoes proteolytic cleavage by furin-like proteases (PubMed:31215115). This produces an inactive form consisting of the mature C-terminal portion non-covalently bound to its cleaved N-terminal propeptide. Activation of the mature form requires additional cleavage of the propeptide by a tolloid-like metalloproteinase. {ECO:0000250|UniProtKB:Q9Z1W4, ECO:0000269|PubMed:31215115}.
uniprot
proteins
protein_family
TGF-beta family
uniprot
proteins
pubmed
10075854
uniprot
proteins
pubmed
10391213
uniprot
proteins
pubmed
26919518
uniprot
proteins
pubmed
28257634
uniprot
proteins
pubmed
31215115
uniprot
proteins
sequence_length
407
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
uniprot
proteins