PDX1

Chr 13q12.2

pancreatic and duodenal homeobox 1

Aliases:: IDX-1, STF-1, PDX-1, MODY4, GSF
MANE:: ENST00000381033.5

OMIM: 600733 ↗NCBI: 3651 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

PDX1 · P52945

v62025-08-01

Predicted Aligned Error matrix for PDX1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.1/ 100

Low

283 residues

Confidence breakdown

Very high(≥ 90)19%
Confident(70–90)11%
Low(50–70)43%
Very low(< 50)28%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Diabetes with additional phenotypes suggestive of a monogenic aetiology
BIALLELIC, autosomal or pseudoautosomal
Familial diabetes
BIALLELIC, autosomal or pseudoautosomal
Monogenic diabetes
BIALLELIC, autosomal or pseudoautosomal
Neonatal diabetes
BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Structural basal ganglia disorders
BIALLELIC, autosomal or pseudoautosomal
Multi-organ autoimmune diabetes
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

pancreatic agenesis 1
0.72
maturity-onset diabetes of the young type 4
0.71
MODY
0.71
Partial pancreatic agenesis
0.64
permanent neonatal diabetes mellitus
0.59
type 2 diabetes mellitus
0.56
maturity-onset diabetes of the young
0.48
scoliosis
0.38
hypothyroidism
0.30
exocrine pancreatic carcinoma
0.27

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

Protein function (UniProt)

Pancreas/duodenum homeobox protein 1

Activates insulin, somatostatin, glucokinase, islet amyloid polypeptide and glucose transporter type 2 gene transcription. Particularly involved in glucose-dependent regulation of insulin gene transcription. As part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. Binds preferentially the DNA motif 5'-[CT]TAAT[TG]-3'. During development, specifies the early pancreatic epithelium, permitting its proliferation, branching and subsequent differentiation. At adult stage, required for maintaining the hormone-producing phenotype of the beta-cell