POU5F1

Chr 6p21.33

POU class 5 homeobox 1

Aliases:: OCT3, Oct4, MGC22487, OCT-4, Oct3/4
MANE:: ENST00000259915.13

OMIM: 164177 ↗NCBI: 5460 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

POU5F1 · Q01860

v62025-08-01

Predicted Aligned Error matrix for POU5F1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.6/ 100

Low

360 residues

Confidence breakdown

Very high(≥ 90)31%
Confident(70–90)7%
Low(50–70)19%
Very low(< 50)44%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Primary ovarian insufficiency
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

neurodegenerative disease
0.55
gastric carcinoma
0.42
lung carcinoma
0.40
hidradenoma
0.37
myoepithelial tumor
0.37
breast carcinoma
0.31
non-small cell lung carcinoma
0.30
head and neck squamous cell carcinoma
0.30
urinary bladder carcinoma
0.30
acute myeloid leukemia
0.30

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

Protein function (UniProt)

POU domain, class 5, transcription factor 1

Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Forms a trimeric complex with SOX2 or SOX15 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. Critical for early embryogenesis and for embryonic stem cell pluripotency

Curated MONDO disease pages that list POU5F1 among their top associated genes.

gastric carcinomaRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with POU5F1