PHACTR1

Chr 6p24.1

phosphatase and actin regulator 1

Aliases:: KIAA1733, dJ257A7.2
MANE:: ENST00000332995.12

OMIM: 608723 ↗NCBI: 221692 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PHACTR1 · Q9C0D0

v62025-08-01

Predicted Aligned Error matrix for PHACTR1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.4/ 100

Low

580 residues

Confidence breakdown

Very high(≥ 90)22%
Confident(70–90)15%
Low(50–70)18%
Very low(< 50)45%

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
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

genetic developmental and epileptic encephalopathy
0.63
coronary artery disorder
0.53
myocardial infarction
0.52
migraine disorder
0.51
angina pectoris
0.48
cardiovascular disorder
0.46
coronary atherosclerosis
0.44
myocardial ischemia
0.44
heart disorder
0.43
atherosclerosis
0.43

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

Protein function (UniProt)

Phosphatase and actin regulator 1

Binds actin monomers (G actin) and plays a role in multiple processes including the regulation of actin cytoskeleton dynamics, actin stress fibers formation, cell motility and survival, formation of tubules by endothelial cells, and regulation of PPP1CA activity (PubMed:21798305, PubMed:21939755). Involved in the regulation of cortical neuron migration and dendrite arborization (By similarity)