PANK4

Chr 1p36.32

pantothenate kinase 4 (inactive)

Aliases:: FLJ10782
MANE:: ENST00000378466.9

OMIM: 606162 ↗NCBI: 55229 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PANK4 · Q9NVE7

v62025-08-01

Predicted Aligned Error matrix for PANK4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.9/ 100

Confident

773 residues

Confidence breakdown

Very high(≥ 90)62%
Confident(70–90)28%
Low(50–70)4%
Very low(< 50)6%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Bilateral congenital or childhood onset cataracts
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

cataract 49
0.42
Posterior polar cataract
0.39
early-onset posterior polar cataract
0.37
neurodegenerative disease
0.35
malunion fracture
0.26
atrial fibrillation
0.15
obesity disorder
0.14
inflammatory bowel disease
0.12
early-onset non-syndromic cataract
0.11
early-onset zonular cataract
0.10

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

Protein function (UniProt)

4'-phosphopantetheine phosphatase

Phosphatase which shows a preference for 4'-phosphopantetheine and its oxidatively damaged forms (sulfonate or S-sulfonate), providing strong indirect evidence that the phosphatase activity pre-empts damage in the coenzyme A (CoA) pathway (PubMed:27322068). Hydrolyzing excess 4'-phosphopantetheine could constitute a directed overflow mechanism to prevent its oxidation to the S-sulfonate, sulfonate, or other forms (PubMed:27322068). Hydrolyzing 4'-phosphopantetheine sulfonate or S-sulfonate would forestall their conversion to inactive forms of CoA and acyl carrier protein (PubMed:27322068). May play a role in the physiological regulation of CoA intracellular levels (Probable)