ALPK1

Chr 4q25

alpha kinase 1

Aliases:: Lak, FLJ22670, KIAA1527
MANE:: ENST00000650871.1

OMIM: 607347 ↗NCBI: 80216 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ALPK1 · Q96QP1

v62025-08-01

Predicted Aligned Error matrix for ALPK1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.6/ 100

Low

1,244 residues

Confidence breakdown

Very high(≥ 90)35%
Confident(70–90)21%
Low(50–70)4%
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)

Autoinflammatory disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal central nervous system disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
0.74
hereditary disease
0.42
Abnormality of the skeletal system
0.36
obesity disorder
0.27
cataract
0.26
secondary malignant neoplasm
0.25
trauma complication
0.25
insomnia
0.25
corneal neovascularization
0.24
male reproductive organ cancer
0.24

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

Protein function (UniProt)

Alpha-protein kinase 1

Serine/threonine-protein kinase that detects bacterial pathogen-associated molecular pattern metabolites (PAMPs) and initiates an innate immune response, a critical step for pathogen elimination and engagement of adaptive immunity (PubMed:28222186, PubMed:28877472, PubMed:30111836). Specifically recognizes and binds ADP-D-glycero-beta-D-manno-heptose (ADP-Heptose), a potent PAMP present in all Gram-negative and some Gram-positive bacteria (PubMed:30111836). ADP-Heptose-binding stimulates its kinase activity to phosphorylate and activate TIFA, triggering pro-inflammatory NF-kappa-B signaling (PubMed:30111836, PubMed:35868845, PubMed:38060563). May be involved in monosodium urate monohydrate (MSU)-induced inflammation by mediating phosphorylation of unconventional myosin MYO9A (PubMed:27169898). May also play a role in apical protein transport by mediating phosphorylation of unconventional myosin MYO1A (PubMed:15883161). May play a role in ciliogenesis (PubMed:30967659)