PTF1A

Chr 10p12.2

pancreas associated transcription factor 1a

Aliases:: PTF1-p48, bHLHa29, p48
MANE:: ENST00000376504.4

OMIM: 607194 ↗NCBI: 256297 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

PTF1A · Q7RTS3

v62025-08-01

Predicted Aligned Error matrix for PTF1A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

60.4/ 100

Low

328 residues

Confidence breakdown

Very high(≥ 90)18%
Confident(70–90)10%
Low(50–70)32%
Very low(< 50)40%

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
BIALLELIC, autosomal or pseudoautosomal
Cerebellar hypoplasia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Diabetes with additional phenotypes suggestive of a monogenic aetiology
BIALLELIC, autosomal or pseudoautosomal
Familial diabetes
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Neonatal diabetes
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
0.76
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
0.71
pancreatic agenesis
0.56
pancreatic agenesis 2
0.56
permanent neonatal diabetes mellitus
0.51
Partial pancreatic agenesis
0.46
MODY
0.34
maturity-onset diabetes of the young
0.34
neurodegenerative disease
0.29
kallikrein, decreased urinary activity of
0.27

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

Protein function (UniProt)

Pancreas transcription factor 1 subunit alpha

Transcription factor implicated in the cell fate determination in various organs. Binds to the E-box consensus sequence 5'-CANNTG-3'. Plays a role in early and late pancreas development and differentiation. Important for determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. May be involved in the maintenance of exocrine pancreas-specific gene expression including ELA1 and amylase. Required for the formation of pancreatic acinar and ductal cells. Plays an important role in cerebellar development. Directly regulated by FOXN4 and RORC during retinal development, FOXN4-PTF1A pathway plays a central role in directing the differentiation of retinal progenitors towards horizontal and amacrine fates