GDF3
entrez
9573
canonical
uniprot
Q9NR23
canonical
ensembl
ENSG00000184344
resolver
ensp
ENSP00000331745
resolver
enst
ENST00000329913
resolver
genesymbol
GDF3
resolver
hgnc
HGNC:4218
resolver
uniprot
Q8NEJ4
resolver
uniprot_entry
GDF3_HUMAN
resolver
uniprot_sec
Q8NEJ4
resolver
amino_acid_sequence
MLRFLPDLAFSFLLILALGQAVQFQEYVFLQFLGLDKAPSPQKFQPVPYILKKIFQDREAAATTGVSRDLCYVKELGVRGNVLRFLPDQGFFLYPKKISQASSCLQKLLYFNLSAIKEREQLTLAQLGLDLGPNSYYNLGPELELALFLVQEPHVWGQTTPKPGKMFVLRSVPWPQGAVHFNLLDVAKDWNDNPRKNFGLFLEILVKEDRDSGVNFQPEDTCARLRCSLHASLLVVTLNPDQCHPSRKRRAAIPVPKLSCKNLCHRHQLFINFRDLGWHKWIIAPKGFMANYCHGECPFSLTISLNSSNYAFMQALMHAVDPEIPQAVCIPTKLSPISMLYQDNNDNVILRHYEDMVVDECGCG
uniprot
proteins
disease_involvement
DISEASE: Klippel-Feil syndrome 3, autosomal dominant (KFS3) [MIM:613702]: A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. {ECO:0000269|PubMed:19864492}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Microphthalmia/Coloboma 6 (MCOPCB6) [MIM:613703]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). {ECO:0000269|PubMed:19864492}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Microphthalmia, isolated, 7 (MCOP7) [MIM:613704]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. {ECO:0000269|PubMed:19864492}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Growth factor involved in early embryonic development and adipose-tissue homeostasis. During embryogenesis controls formation of anterior visceral endoderm and mesoderm and the establishment of anterior-posterior identity through a receptor complex comprising the receptor ACVR1B and the coreceptor CRIPTO (By similarity). Regulates adipose-tissue homeostasis and energy balance under nutrient overload in part by signaling through the receptor complex based on ACVR1C and CRIPTO/Cripto (PubMed:21805089). {ECO:0000250|UniProtKB:Q07104, ECO:0000269|PubMed:21805089}.
uniprot
proteins
mass_dalton
41387
uniprot
proteins
post_translational_modification
PTM: Synthesized as large precursor molecule that undergo proteolytic cleavage, releasing the pro-domain from the active, receptor binding, C-terminal region of the molecule. {ECO:0000305}.
uniprot
proteins
protein_family
TGF-beta family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
19864492
uniprot
proteins
pubmed
21805089
uniprot
proteins
sequence_length
364
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:19864492, ECO:0000269|PubMed:21805089}. Cytoplasm {ECO:0000269|PubMed:19864492, ECO:0000269|PubMed:21805089}. Note=Mainly accumulated in the cytoplasm. {ECO:0000269|PubMed:21805089}.
uniprot
proteins