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2 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GASK1A
golgi associated kinase 1A
Chromosome 3 · 3p22.1
NCBI Gene: 729085Ensembl: ENSG00000144649.11HGNC: HGNC:24485UniProt: Q9UFP1
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Golgi apparatusextracellular regionendoplasmic reticulumcaveolaosteoarthritis, hipAbnormality of the skeletal systemmedical procedureupper extremity fracture
✦AI Summary

Based on limited published evidence, GASK1A is a Golgi-associated kinase localized to the endoplasmic reticulum, Golgi apparatus, and extracellular region. The related protein FAM198A, a secreted kinase family member, undergoes proteolytic maturation in the Golgi apparatus and is transported via caveolae biogenesis vesicles 1. DNA methylation changes in GASK1A-related sequences have been associated with placental development and small for gestational age outcomes, with methylation patterns influenced by maternal folic acid supplementation and fetal sex 2. However, direct functional studies of GASK1A specifically are lacking.

Sources cited
1
FAM198A, a secreted kinase family member, undergoes proteolytic cleavage in the Golgi apparatus and transport via caveolae biogenesis pathway from the ER
PMID: 30188967
2
DNA methylation changes in FAM198A sequences are associated with small for gestational age and influenced by maternal folic acid supplementation status
PMID: 31596135
⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
osteoarthritis, hipOpen Targets
0.48Moderate
Abnormality of the skeletal systemOpen Targets
0.44Moderate
medical procedureOpen Targets
0.34Weak
upper extremity fractureOpen Targets
0.31Weak
total hip arthroplastyOpen Targets
0.25Weak
concussionOpen Targets
0.21Weak
cesarean sectionOpen Targets
0.04Suggestive
Intrahepatic cholestasis of pregnancyOpen Targets
0.04Suggestive
Self-injurious behaviorOpen Targets
0.04Suggestive
nephrotic syndromeOpen Targets
0.04Suggestive
spondylolisthesisOpen Targets
0.02Suggestive
Acute hepatic failureOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
psoriasisOpen Targets
0.00Suggestive
cholangiocarcinomaOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FAM20BProtein interaction71%FAM20CProtein interaction71%
Tissue Expression6 tissues
Liver
100%
Ovary
69%
Lung
19%
Brain
16%
Heart
10%
Bone Marrow
4%
Gene Interaction Network
Click a node to explore
GASK1AFAM20BFAM20C
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9UFP1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.33LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.04 [0.81–1.33]
RankingsWhere GASK1A stands among ~20K protein-coding genes
  • #17,061of 20,598
    Most Researched10
  • #13,991of 17,882
    Most Constrained (LOEUF)1.33
Genes detectedGASK1A
Sources retrieved2 papers
Response time—
📄 Sources
2
1
Fam198a, a member of secreted kinase, secrets through caveolae biogenesis pathway.
PMID: 30188967
Acta Biochim Biophys Sin (Shanghai) · 2018
1.00
2
Genome-wide DNA methylation changes in placenta tissues associated with small for gestational age newborns; cohort study in the Chinese population.
PMID: 31596135
Epigenomics · 2019
0.50