SOX17
entrez
64321
canonical
uniprot
Q9H6I2
canonical
ensembl
ENSG00000164736
resolver
ensp
ENSP00000297316
resolver
enst
ENST00000297316
resolver
genesymbol
SOX17
resolver
hgnc
HGNC:18122
resolver
uniprot_entry
SOX17_HUMAN
resolver
amino_acid_sequence
MSSPDAGYASDDQSQTQSALPAVMAGLGPCPWAESLSPIGDMKVKGEAPANSGAPAGAAGRAKGESRIRRPMNAFMVWAKDERKRLAQQNPDLHNAELSKMLGKSWKALTLAEKRPFVEEAERLRVQHMQDHPNYKYRPRRRKQVKRLKRVEGGFLHGLAEPQAAALGPEGGRVAMDGLGLQFPEQGFPAGPPLLPPHMGGHYRDCQSLGAPPLDGYPLPTPDTSPLDGVDPDPAFFAAPMPGDCPAAGTYSYAQVSDYAGPPEPPAGPMHPRLGPEPAGPSIPGLLAPPSALHVYYGAMGSPGAGGGRGFQMQPQHQHQHQHQHHPPGPGQPSPPPEALPCRDGTDPSQPAELLGEVDRTEFEQYLHFVCKPEMGLPYQGHDSGVNLPDSHGAISSVVSDASSAVYYCNYPDV
uniprot
proteins
disease_involvement
DISEASE: Vesicoureteral reflux 3 (VUR3) [MIM:613674]: A disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease. {ECO:0000269|PubMed:20960469}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Pulmonary hypertension, primary, 7 (PPH7) [MIM:621248]: A form of primary pulmonary hypertension, a disease defined by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. Primary pulmonary hypertension exhibits incomplete penetrance, sex bias and variable age of onset, both within and between families. PPH7 is an autosomal dominant form. {ECO:0000269|PubMed:29650961, ECO:0000269|PubMed:33952808, ECO:0000269|PubMed:35618278, ECO:0000269|PubMed:37895315}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a transcription regulator that binds target promoter DNA (PubMed:33952808). Binds to the sequences 5'-AACAAT-'3 or 5'-AACAAAG-3'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt signaling. Promotes degradation of activated CTNNB1. Plays a key role in the regulation of embryonic development. Required for normal development of the definitive gut endoderm. Required for normal looping of the embryonic heart tube. Plays an important role in embryonic and postnatal vascular development, including development of arteries. Plays an important role in postnatal angiogenesis, where it is functionally redundant with SOX18. Required for the generation and maintenance of fetal hematopoietic stem cells, and for fetal hematopoiesis. Probable transcriptional activator in the premeiotic germ cells. {ECO:0000250|UniProtKB:Q61473, ECO:0000269|PubMed:33952808}.
uniprot
proteins
mass_dalton
44117
uniprot
proteins
pubmed
11786926
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
20960469
uniprot
proteins
pubmed
27592148
uniprot
proteins
pubmed
28566479
uniprot
proteins
pubmed
29650961
uniprot
proteins
pubmed
33952808
uniprot
proteins
pubmed
34342803
uniprot
proteins
pubmed
35618278
uniprot
proteins
pubmed
37895315
uniprot
proteins
sequence_length
414
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}.
uniprot
proteins