GDF1
entrez
2657
canonical
uniprot
P27539
canonical
ensembl
ENSG00000130283
resolver
ensp
ENSP00000247005
resolver
ensp
ENSP00000707800
resolver
enst
ENST00000247005
resolver
genesymbol
GDF1
resolver
hgnc
HGNC:4214
resolver
uniprot
O43344
resolver
uniprot_entry
GDF1_HUMAN
resolver
uniprot_sec
O43344
resolver
amino_acid_sequence
MPPPQQGPCGHHLLLLLALLLPSLPLTRAPVPPGPAAALLQALGLRDEPQGAPRLRPVPPVMWRLFRRRDPQETRSGSRRTSPGVTLQPCHVEELGVAGNIVRHIPDRGAPTRASEPASAAGHCPEWTVVFDLSAVEPAERPSRARLELRFAAAAAAAPEGGWELSVAQAGQGAGADPGPVLLRQLVPALGPPVRAELLGAAWARNASWPRSLRLALALRPRAPAACARLAEASLLLVTLDPRLCHPLARPRRDAEPVLGGGPGGACRARRLYVSFREVGWHRWVIAPRGFLANYCQGQCALPVALSGSGGPPALNHAVLRALMHAAAPGAADLPCCVPARLSPISVLFFDNSDNVVLRQYEDMVVDECGCR
uniprot
proteins
disease_involvement
DISEASE: Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. {ECO:0000269|PubMed:17924340}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Congenital heart defects, multiple types, 6 (CHTD6) [MIM:613854]: An autosomal dominant disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include tetralogy of Fallot, transposition of the great arteries, double-outlet right ventricle, total anomalous pulmonary venous return, pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect, and hypoplastic left or right ventricle. {ECO:0000269|PubMed:17924340, ECO:0000269|PubMed:28991257}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Tetralogy of Fallot (TOF) [MIM:187500]: A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. {ECO:0000269|PubMed:17924340}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Right atrial isomerism (RAI) [MIM:208530]: A severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. {ECO:0000269|PubMed:20413652, ECO:0000269|PubMed:28991257}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May mediate cell differentiation events during embryonic development.
uniprot
proteins
mass_dalton
39475
uniprot
proteins
protein_family
TGF-beta family
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
17924340
uniprot
proteins
pubmed
2034669
uniprot
proteins
pubmed
20413652
uniprot
proteins
pubmed
28991257
uniprot
proteins
sequence_length
372
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted.
uniprot
proteins