SOX18
entrez
54345
canonical
uniprot
P35713
canonical
ensembl
ENSG00000203883
resolver
ensp
ENSP00000341815
resolver
enst
ENST00000340356
resolver
genesymbol
SOX18
resolver
hgnc
HGNC:11194
resolver
uniprot
Q0VGA9
resolver
uniprot
Q9NPH8
resolver
uniprot_entry
SOX18_HUMAN
resolver
uniprot_sec
Q0VGA9
resolver
uniprot_sec
Q9NPH8
resolver
amino_acid_sequence
MQRSPPGYGAQDDPPARRDCAWAPGHGAAADTRGLAAGPAALAAPAAPASPPSPQRSPPRSPEPGRYGLSPAGRGERQAADESRIRRPMNAFMVWAKDERKRLAQQNPDLHNAVLSKMLGKAWKELNAAEKRPFVEEAERLRVQHLRDHPNYKYRPRRKKQARKARRLEPGLLLPGLAPPQPPPEPFPAASGSARAFRELPPLGAEFDGLGLPTPERSPLDGLEPGEAAFFPPPAAPEDCALRPFRAPYAPTELSRDPGGCYGAPLAEALRTAPPAAPLAGLYYGTLGTPGPYPGPLSPPPEAPPLESAEPLGPAADLWADVDLTEFDQYLNCSRTRPDAPGLPYHVALAKLGPRAMSCPEESSLISALSDASSAVYYSACISG
uniprot
proteins
disease_involvement
DISEASE: Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]: A syndrome characterized by absent eyebrows and eyelashes, lymphatic edemas of the inferior members or eyelids, and peripheral vein anomalies. {ECO:0000269|PubMed:12740761}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (HLTRS) [MIM:137940]: A syndrome characterized by sparse hair, lymphatic edemas, peripheral vein anomalies, and renal disease. {ECO:0000269|PubMed:12740761, ECO:0000269|PubMed:24697860}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional activator that binds to the consensus sequence 5'-AACAAAG-3' in the promoter of target genes and plays an essential role in embryonic cardiovascular development and lymphangiogenesis. Activates transcription of PROX1 and other genes coding for lymphatic endothelial markers. Plays an essential role in triggering the differentiation of lymph vessels, but is not required for the maintenance of differentiated lymphatic endothelial cells. Plays an important role in postnatal angiogenesis, where it is functionally redundant with SOX17. Interaction with MEF2C enhances transcriptional activation. Besides, required for normal hair development. {ECO:0000250|UniProtKB:P43680}.
uniprot
proteins
mass_dalton
40891
uniprot
proteins
mutagenesis
MUTAGEN 330..331; /note="YL->QS: Greatly reduced transactivating activity."; /evidence="ECO:0000269|PubMed:17603017
uniprot
proteins
pubmed
10807548
uniprot
proteins
pubmed
10858556
uniprot
proteins
pubmed
11130989
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12740761
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1614875
uniprot
proteins
pubmed
17603017
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24697860
uniprot
proteins
sequence_length
384
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}.
uniprot
proteins