POU3F3
entrez
5455
canonical
uniprot
P20264
canonical
ensembl
ENSG00000198914
resolver
ensp
ENSP00000355001
resolver
ensp
ENSP00000501036
resolver
enst
ENST00000361360
resolver
enst
ENST00000674056
resolver
genesymbol
POU3F3
resolver
genesymbol_syn
BRN1
resolver
genesymbol_syn
OTF8
resolver
hgnc
HGNC:9216
resolver
uniprot
P78379
resolver
uniprot
Q4ZG25
resolver
uniprot_entry
PO3F3_HUMAN
resolver
uniprot_sec
P78379
resolver
uniprot_sec
Q4ZG25
resolver
amino_acid_sequence
MATAASNPYLPGNSLLAAGSIVHSDAAGAGGGGGGGGGGGGGGAGGGGGGMQPGSAAVTSGAYRGDPSSVKMVQSDFMQGAMAASNGGHMLSHAHQWVTALPHAAAAAAAAAAAAVEASSPWSGSAVGMAGSPQQPPQPPPPPPQGPDVKGGAGRDDLHAGTALHHRGPPHLGPPPPPPHQGHPGGWGAAAAAAAAAAAAAAAAHLPSMAGGQQPPPQSLLYSQPGGFTVNGMLSAPPGPGGGGGGAGGGAQSLVHPGLVRGDTPELAEHHHHHHHHAHPHPPHPHHAQGPPHHGGGGGGAGPGLNSHDPHSDEDTPTSDDLEQFAKQFKQRRIKLGFTQADVGLALGTLYGNVFSQTTICRFEALQLSFKNMCKLKPLLNKWLEEADSSTGSPTSIDKIAAQGRKRKKRTSIEVSVKGALESHFLKCPKPSAQEITNLADSLQLEKEVVRVWFCNRRQKEKRMTPPGIQQQTPDDVYSQVGTVSADTPPPHHGLQTSVQ
uniprot
proteins
disease_involvement
DISEASE: Snijders Blok-Fisher syndrome (SNIBFIS) [MIM:618604]: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia, intellectual disability, autistic features, impairments in speech and language skills, and dysmorphic features including abnormal, cupped, or prominent ears and ocular anomalies. {ECO:0000269|PubMed:31303265}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor that acts synergistically with SOX11 and SOX4. Plays a role in neuronal development (PubMed:31303265). Is implicated in an enhancer activity at the embryonic met-mesencephalic junction; the enhancer element contains the octamer motif (5'-ATTTGCAT-3') (By similarity). {ECO:0000250|UniProtKB:P31361, ECO:0000250|UniProtKB:Q63262, ECO:0000269|PubMed:31303265}.
uniprot
proteins
mass_dalton
50327
uniprot
proteins
protein_family
Class-3 subfamily
uniprot
proteins
protein_family
POU transcription factor family
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
2739723
uniprot
proteins
pubmed
31303265
uniprot
proteins
pubmed
8703082
uniprot
proteins
sequence_length
500
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:31303265}.
uniprot
proteins