ALPK1
Function
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). 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).
Involvement in disease
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
ROSAH
An autosomal dominant disorder characterized by decreased vision associated with optic nerve edema, evident in childhood. Low-grade ocular inflammation is common in affected individuals. Later in childhood or the second decade of life, patients have increasing visual impairment, abnormal cone function and loss of rod function. By the third decade of life, visual acuity ranges from counting fingers to no light perception. Patients also show anhidrosis, splenomegaly, mild pancytopenia, and most experience headaches that may be migraine-like in nature.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily.
Tissue Specificity
Highly expressed in liver. Expressed in the optic nerve and retinal pigmented epithelium. Lower expression is observed in the macula and extramacular retina (PubMed:30967659).
Cellular localization
- Cytoplasm
- Cytosol
- Cytoplasm
- Cytoskeleton
- Spindle pole
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Cell projection
- Cilium
- Localized at the base of primary cilia.
Alternative names
KIAA1527, LAK, ALPK1, Alpha-protein kinase 1, Chromosome 4 kinase, Lymphocyte alpha-protein kinase