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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ALPK1
alpha kinase 1
Chromosome 4 · 4q25
NCBI Gene: 80216Ensembl: ENSG00000073331.19HGNC: HGNC:20917UniProt: Q96QP1
46PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Kinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein serine/threonine kinase activityprotein bindingcentrosomecytosolretinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndromeAbnormality of the skeletal systemgenetic disorderobesity
✦AI Summary

ALPK1 (alpha-kinase 1) is a cytosolic pattern recognition receptor that detects bacterial pathogen-associated molecular patterns (PAMPs) and initiates innate immune responses 1. Specifically, ALPK1 recognizes and binds ADP-D-glycero-β-D-manno-heptose (ADP-heptose), a metabolite present in Gram-negative and some Gram-positive bacteria, with stronger responses to related heptose derivatives 2. ADP-heptose binding stimulates ALPK1's serine/threonine kinase activity to phosphorylate and activate TIFA, triggering pro-inflammatory NF-κB signaling 3. This pathway has significant disease relevance: gain-of-function ALPK1 mutations cause ROSAH syndrome (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, headache), a recognized autoinflammatory condition 3. Additionally, bacterial ALPK1 activation promotes colorectal cancer pathogenesis via increased IL-8 and anti-apoptotic gene expression 4, and drives metastasis by inducing ICAM1 expression on endothelial cells 5. Clinically, ADP-heptose accumulation with aging promotes clonal hematopoiesis of indeterminate potential (CHIP) expansion 6. ALPK1 agonists show promising therapeutic potential in cancer immunotherapy and hepatitis B treatment 78.

Sources cited
1
ALPK1 recognizes and binds ADP-heptose, stimulates kinase activity to phosphorylate TIFA and activate NF-κB signaling
PMID: 30111836
2
CDP- and UDP-heptoses are stronger ALPK1-dependent immune agonists than ADP-heptose
PMID: 39116220
3
Gain-of-function ALPK1 mutations cause ROSAH syndrome, an autoinflammatory disease with increased NF-κB signaling
PMID: 35868845
4
Fusobacterium nucleatum releases ADP-heptose activating ALPK1/TIFA/TRAF6 pathway, promoting colorectal cancer cell survival
PMID: 38126163
5
F. nucleatum-induced ALPK1 activation increases ICAM1 expression, promoting CRC cell adhesion and metastasis
PMID: 35220887
6
Age-related ADP-heptose accumulation binds ALPK1 to promote pre-leukaemic cell expansion in CHIP
PMID: 40269158
7
ALPK1 agonists induce antitumor immunity through dendritic cell activation and synergize with checkpoint inhibitors
PMID: 41372408
8
ALPK1 agonist DF-006 demonstrates antiviral efficacy in hepatitis B models via NF-κB pathway activation
PMID: 35699669
9
IFN-γ licenses ALPK1/TIFA pathway in monocytes through TIFA upregulation, promoting pathogenic ALPK1 mutations
PMID: 39868044
Disease Associationsⓘ21
retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndromeOpen Targets
0.72Strong
Abnormality of the skeletal systemOpen Targets
0.42Moderate
genetic disorderOpen Targets
0.42Moderate
obesityOpen Targets
0.28Weak
cataractOpen Targets
0.28Weak
trauma complicationOpen Targets
0.28Weak
corneal ulcerOpen Targets
0.27Weak
skin woundOpen Targets
0.27Weak
secondary malignant neoplasmOpen Targets
0.25Weak
corneal neovascularizationOpen Targets
0.25Weak
pancreatic adenocarcinomaOpen Targets
0.22Weak
male reproductive organ cancerOpen Targets
0.22Weak
insomniaOpen Targets
0.22Weak
neurodegenerative diseaseOpen Targets
0.15Weak
cancerOpen Targets
0.09Suggestive
goutOpen Targets
0.08Suggestive
colitisOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.06Suggestive
lymphatic system diseaseOpen Targets
0.06Suggestive
chronic kidney diseaseOpen Targets
0.06Suggestive
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndromeUniProt
Pathogenic Variants3
NM_025144.4(ALPK1):c.710C>T (p.Thr237Met)Pathogenic
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome|not provided|ALPK1-related disorder|Inborn genetic diseases
★★☆☆2025→ Residue 237
NM_025144.4(ALPK1):c.830C>T (p.Ser277Phe)Likely pathogenic
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
★☆☆☆2024→ Residue 277
NM_025144.4(ALPK1):c.761A>G (p.Tyr254Cys)Pathogenic
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
☆☆☆☆2023→ Residue 254
View on ClinVar ↗
Related Genes
TIFAProtein interaction64%TRIM52Shared pathway29%TRIM62Shared pathway25%DEFB131BShared pathway25%DEFB131AShared pathway25%DEFB134Shared pathway25%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
94%
Ovary
65%
Liver
55%
Brain
18%
Heart
17%
Gene Interaction Network
Click a node to explore
ALPK1TIFATRIM52TRIM62DEFB131BDEFB131ADEFB134
PROTEIN STRUCTURE
Preparing viewer…
PDB8ZD3 · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.92 [0.78–1.08]
RankingsWhere ALPK1 stands among ~20K protein-coding genes
  • #9,299of 20,598
    Most Researched46
  • #4,071of 5,498
    Most Pathogenic Variants3
  • #10,948of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedALPK1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The β-d-
PMID: 39116220
Science · 2024
1.00
2
PMID: 38935811
0.90
3
Agonists for cytosolic bacterial receptor ALPK1 induce antitumour immunity.
PMID: 41372408
Nature · 2026
0.80
4
PMID: 38126163
Gut Microbes · 2024
0.70
5
PMID: 35220887
Gut Microbes · 2022
0.60