PITX1

Chr 5q31.1

paired like homeodomain 1

Aliases:: PTX1, POTX
MANE:: ENST00000265340.12

OMIM: 602149 ↗NCBI: 5307 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

PITX1 · P78337

v62025-08-01

Predicted Aligned Error matrix for PITX1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

61.1/ 100

Low

314 residues

Confidence breakdown

Very high(≥ 90)17%
Confident(70–90)6%
Low(50–70)43%
Very low(< 50)34%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
VACTERL-like phenotypes

Disease associations (Open Targets)

clubfoot
0.74
brachydactyly-elbow wrist dysplasia syndrome
0.67
Brachydactyly - elbow wrist dysplasia
0.65
Talipes equinovarus
0.49
neurodegenerative disease
0.48
dentures
0.40
familial clubfoot with or without associated lower limb anomalies
0.37
polydactyly
0.37
familial clubfoot due to PITX1 point mutation
0.37
colorectal cancer
0.37

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

Protein function (UniProt)

Pituitary homeobox 1

Sequence-specific transcription factor that binds gene promoters and activates their transcription. May play a role in the development of anterior structures, and in particular, the brain and facies and in specifying the identity or structure of hindlimb