POU4F1
entrez
5457
canonical
uniprot
Q01851
canonical
ensembl
ENSG00000152192
resolver
ensp
ENSP00000366413
resolver
genesymbol
POU4F1
resolver
genesymbol_syn
BRN3A
resolver
genesymbol_syn
RDC1
resolver
hgnc
HGNC:9218
resolver
uniprot
Q14986
resolver
uniprot
Q15318
resolver
uniprot
Q5T227
resolver
uniprot_entry
PO4F1_HUMAN
resolver
uniprot_sec
Q14986
resolver
uniprot_sec
Q15318
resolver
uniprot_sec
Q5T227
resolver
amino_acid_sequence
MMSMNSKQPHFAMHPTLPEHKYPSLHSSSEAIRRACLPTPPLQSNLFASLDETLLARAEALAAVDIAVSQGKSHPFKPDATYHTMNSVPCTSTSTVPLAHHHHHHHHHQALEPGDLLDHISSPSLALMAGAGGAGAAAGGGGAHDGPGGGGGPGGGGGPGGGPGGGGGGGPGGGGGGPGGGLLGGSAHPHPHMHSLGHLSHPAAAAAMNMPSGLPHPGLVAAAAHHGAAAAAAAAAAGQVAAASAAAAVVGAAGLASICDSDTDPRELEAFAERFKQRRIKLGVTQADVGSALANLKIPGVGSLSQSTICRFESLTLSHNNMIALKPILQAWLEEAEGAQREKMNKPELFNGGEKKRKRTSIAAPEKRSLEAYFAVQPRPSSEKIAAIAEKLDLKKNVVRVWFCNQRQKQKRMKFSATY
uniprot
proteins
disease_involvement
DISEASE: Ataxia, intention tremor, and hypotonia syndrome, childhood-onset (ATITHS) [MIM:619352]: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, mildly impaired intellectual development with speech delay or learning disabilities, delayed walking due to ataxia, intention tremor, and hypotonia apparent from early childhood. Brain imaging shows cerebellar atrophy in some patients. {ECO:0000269|PubMed:33783914}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Multifunctional transcription factor with different regions mediating its different effects. Acts by binding (via its C-terminal domain) to sequences related to the consensus octamer motif 5'-ATGCAAAT-3' in the regulatory regions of its target genes. Regulates the expression of specific genes involved in differentiation and survival within a subset of neuronal lineages. It has been shown that activation of some of these genes requires its N-terminal domain, maybe through a neuronal-specific cofactor. Activates BCL2 expression and protects neuronal cells from apoptosis (via the N-terminal domain). Induces neuronal process outgrowth and the coordinate expression of genes encoding synaptic proteins. Exerts its major developmental effects in somatosensory neurons and in brainstem nuclei involved in motor control. Stimulates the binding affinity of the nuclear estrogene receptor ESR1 to DNA estrogen response element (ERE), and hence modulates ESR1-induced transcriptional activity. May positively regulate POU4F2 and POU4F3. Regulates dorsal root ganglion sensory neuron specification and axonal projection into the spinal cord. Plays a role in TNFSF11-mediated terminal osteoclast differentiation. Negatively regulates its own expression interacting directly with a highly conserved autoregulatory domain surrounding the transcription initiation site. {ECO:0000250|UniProtKB:P17208}.; FUNCTION: [Isoform 2]: Able to act as transcription factor, cannot regulate the expression of the same subset of genes than isoform 1. Does not have antiapoptotic effect on neuronal cells. {ECO:0000250|UniProtKB:P17208}.
uniprot
proteins
mass_dalton
42697
uniprot
proteins
protein_family
Class-4 subfamily
uniprot
proteins
protein_family
POU transcription factor family
uniprot
proteins
pubmed
12934100
uniprot
proteins
pubmed
1357630
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
33783914
uniprot
proteins
pubmed
7623109
uniprot
proteins
pubmed
8234287
uniprot
proteins
sequence_length
419
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12934100}. Cytoplasm {ECO:0000250|UniProtKB:P17208}.
uniprot
proteins