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Q9BWX5 of Proteins GATA-type domain repeats
Uniprot ID:Q9BWX5
Protein name: Transcription factor GATA-5
Gene : GATA5
Protein Family:
Squence Length : 397
Sequnce
>Q9BWX5 398 MYQSLALAASPRQAAYADSGSFLHAPGAGSPMFVPPARVPSMLSYLSGCEPSPQPPELAARPGWAQTATADSSAFGPGSPHPPAAHPPGATAFPFAHSPSGPGSGGSAGGRDGSAYQGALLPREQFAAPLGRPVGTSYSATYPAYVSPDVAQSWTAGPFDGSVLHGLPGRRPTFVSDFLEEFPGEGRECVNCGALSTPLWRRDGTGHYLCNACGLYHKMNGVNRPLVRPQKRLSSSRRAGLCCTNCHTTNTTLWRRNSEGEPVCNACGLYMKLHGVPRPLAMKKESIQTRKRKPKTIAKARGSSGSTRNASASPSAVASTDSSAATSKAKPSLASPVCPGPSMAPQASGQEDDSLAPGHLEFKFEPEDFAFPSTAPSPQAGLRGALRQEAWCALALA
GATA-type domains repeats
ZN_FING 189 213 GATA-type 1 ZN_FING 243 267 GATA-type 2
Domin repeated regions
189 - 213 CVNCGALSTPLWRRDGTGHYLCNAC 243 - 267 CTNCHTTNTTLWRRNSEGEPVCNAC
Function
Transcription factor required during cardiovascular development (PubMed:23289003). Plays an important role in the transcriptional program(s) that underlies smooth muscle cell diversity (By similarity). Binds to the functionally important CEF-1 nuclear protein binding site in the cardiac-specific slow/cardiac troponin C transcriptional enhancer (PubMed:25543888)
Disease
"DISEASE: Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]: A disorder characterized by congenital developmental abnormalities involving structures of the heart Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, patent ductus arteriosus, and tetralogy of Fallot Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions CHTD5 inheritance can be autosomal dominant or recessive Note=The disease is caused by mutations affecting the gene represented in this entry"