POU4F1

Chr 13q31.1

POU class 4 homeobox 1

Aliases:: RDC-1
MANE:: ENST00000377208.7

OMIM: 601632 ↗NCBI: 5457 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

POU4F1 · Q01851

v62025-08-01

Predicted Aligned Error matrix for POU4F1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

60.8/ 100

Low

419 residues

Confidence breakdown

Very high(≥ 90)24%
Confident(70–90)9%
Low(50–70)18%
Very low(< 50)50%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

ataxia, intention tremor, and hypotonia syndrome, childhood-onset
0.71
neurodegenerative disease
0.53
Non-progressive cerebellar ataxia with intellectual disability
0.40
enthesopathy
0.39
ovarian neoplasm
0.33
smoking initiation
0.25
alcohol drinking
0.25
Abnormality of the skeletal system
0.21
urolithiasis
0.21
cholelithiasis
0.21

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

POU domain, class 4, transcription factor 1

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