PSKH1

Chr 16q22.1

protein serine kinase H1

MANE:: ENST00000291041.6

OMIM: 177015 ↗NCBI: 5681 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PSKH1 · P11801

v62025-08-01

Predicted Aligned Error matrix for PSKH1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.6/ 100

Confident

424 residues

Confidence breakdown

Very high(≥ 90)49%
Confident(70–90)18%
Low(50–70)7%
Very low(< 50)27%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Cholestasis
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

cholestasis, progressive familial intrahepatic, 13
0.64
neurodegenerative disease
0.37
lysosomal storage disease
0.37
Alzheimer disease
0.37
multiple sclerosis
0.37
Parkinson disease
0.37
idiopathic pulmonary fibrosis
0.16
hypothyroidism
0.14
alcohol drinking
0.09
metabolic syndrome
0.08

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

Protein function (UniProt)

Serine/threonine-protein kinase H1

Serine/threonine protein kinase that may be involved in the regulation of pre-mRNA processing. It may phosphorylate components of nuclear splice factor compartments (SFC), such as non-snRNP splicing factors containing a serine/arginine-rich domain (SR proteins). Reversible phosphorylation of SR proteins may cause their release into the nucleoplasm and change their local concentration, thereby influencing alternative splicing