GATA5
entrez
140628
canonical
uniprot
Q9BWX5
canonical
ensembl
ENSG00000130700
resolver
ensp
ENSP00000252997
resolver
ensp
ENSP00000531247
resolver
ensp
ENSP00000531248
resolver
enst
ENST00000252997
resolver
enst
ENST00000861188
resolver
enst
ENST00000861189
resolver
genesymbol
GATA5
resolver
hgnc
HGNC:15802
resolver
uniprot
D9ZGF7
resolver
uniprot
Q17RE2
resolver
uniprot
Q86VU4
resolver
uniprot_entry
GATA5_HUMAN
resolver
uniprot_sec
D9ZGF7
resolver
uniprot_sec
Q17RE2
resolver
uniprot_sec
Q86VU4
resolver
amino_acid_sequence
MYQSLALAASPRQAAYADSGSFLHAPGAGSPMFVPPARVPSMLSYLSGCEPSPQPPELAARPGWAQTATADSSAFGPGSPHPPAAHPPGATAFPFAHSPSGPGSGGSAGGRDGSAYQGALLPREQFAAPLGRPVGTSYSATYPAYVSPDVAQSWTAGPFDGSVLHGLPGRRPTFVSDFLEEFPGEGRECVNCGALSTPLWRRDGTGHYLCNACGLYHKMNGVNRPLVRPQKRLSSSRRAGLCCTNCHTTNTTLWRRNSEGEPVCNACGLYMKLHGVPRPLAMKKESIQTRKRKPKTIAKARGSSGSTRNASASPSAVASTDSSAATSKAKPSLASPVCPGPSMAPQASGQEDDSLAPGHLEFKFEPEDFAFPSTAPSPQAGLRGALRQEAWCALALA
uniprot
proteins
disease_involvement
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. {ECO:0000269|PubMed:22483626, ECO:0000269|PubMed:22641149, ECO:0000269|PubMed:22961344, ECO:0000269|PubMed:23031282, ECO:0000269|PubMed:23175127, ECO:0000269|PubMed:23289003, ECO:0000269|PubMed:23295592, ECO:0000269|PubMed:24573614, ECO:0000269|PubMed:24638895, ECO:0000269|PubMed:25543888}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:P97489, ECO:0000269|PubMed:23289003, ECO:0000269|PubMed:25543888}.
uniprot
proteins
mass_dalton
41299
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
22483626
uniprot
proteins
pubmed
22641149
uniprot
proteins
pubmed
22961344
uniprot
proteins
pubmed
23031282
uniprot
proteins
pubmed
23175127
uniprot
proteins
pubmed
23289003
uniprot
proteins
pubmed
23295592
uniprot
proteins
pubmed
24573614
uniprot
proteins
pubmed
24638895
uniprot
proteins
pubmed
25543888
uniprot
proteins
sequence_length
397
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
uniprot
proteins