EBF3
entrez
253738
canonical
uniprot
Q9H4W6
canonical
ensembl
ENSG00000108001
resolver
ensp
ENSP00000347463
resolver
ensp
ENSP00000357637
resolver
ensp
ENSP00000387543
resolver
ensp
ENSP00000574952
resolver
ensp
ENSP00000632382
resolver
enst
ENST00000440978
resolver
genesymbol
EBF3
resolver
genesymbol_syn
COE3
resolver
hgnc
HGNC:19087
resolver
uniprot
A0AUY1
resolver
uniprot
H0Y3W9
resolver
uniprot
Q5T6H9
resolver
uniprot
Q9H4W5
resolver
uniprot_entry
COE3_HUMAN
resolver
uniprot_entry
H0Y3W9_HUMAN
resolver
uniprot_sec
A0AUY1
resolver
uniprot_sec
Q5T6H9
resolver
uniprot_sec
Q9H4W5
resolver
amino_acid_sequence
MFGIQENIPRGGTTMKEEPLGSGMNPVRSWMHTAGVVDANTAAQSGVGLARAHFEKQPPSNLRKSNFFHFVLALYDRQGQPVEIERTAFVDFVEKEKEPNNEKTNNGIHYKLQLLYSNGVRTEQDLYVRLIDSMTKQAIVYEGQDKNPEMCRVLLTHEIMCSRCCDKKSCGNRNETPSDPVIIDRFFLKFFLKCNQNCLKNAGNPRDMRRFQVVVSTTVNVDGHVLAVSDNMFVHNNSKHGRRARRLDPSEGTAPSYLENATPCIKAISPSEGWTTGGATVIIIGDNFFDGLQVVFGTMLVWSELITPHAIRVQTPPRHIPGVVEVTLSYKSKQFCKGAPGRFVYTALNEPTIDYGFQRLQKVIPRHPGDPERLPKEVLLKRAADLVEALYGMPHNNQEIILKRAADIAEALYSVPRNHNQIPTLGNNPAHTGMMGVNSFSSQLAVNVSETSQANDQVGYSRNTSSVSPRGYVPSSTPQQSNYNTVSTSMNGYGSGAMASLGVPGSPGFLNGSSANSPYGIVPSSPTMAASSVTLPSNCSSTHGIFSFSPANVISAVKQKSAFAPVVRPQASPPPSCTSANGNGLQAMSGLVVPPM
uniprot
proteins
disease_involvement
DISEASE: Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330]: An autosomal dominant neurodevelopmental syndrome characterized by global developmental delay, moderate to severe intellectual disability, cerebellar ataxia, hypotonia, speech delay, variable dysmorphic features, and genitourinary abnormalities including vesicoureteric reflux. {ECO:0000269|PubMed:28017370, ECO:0000269|PubMed:28017372, ECO:0000269|PubMed:28017373}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional activator (PubMed:28017370, PubMed:28017372, PubMed:28017373). Recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3' (By similarity). {ECO:0000250|UniProtKB:Q07802, ECO:0000269|PubMed:28017370, ECO:0000269|PubMed:28017372, ECO:0000269|PubMed:28017373}.
uniprot
proteins
mass_dalton
64864
uniprot
proteins
protein_family
COE family
uniprot
proteins
pubmed
12355068
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20592035
uniprot
proteins
pubmed
28017370
uniprot
proteins
pubmed
28017372
uniprot
proteins
pubmed
28017373
uniprot
proteins
sequence_length
596
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28017373}.
uniprot
proteins