ArticlePloS one2012
The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 97 papers.
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Who cites it
97 citing papers in PubMed, 183 citations in OpenAlex.
- An AI-enabled structural atlas decodes kinase specificity across the human proteome.Nature biotechnology · 2026Article
- Comprehensive Analysis of the Putative Substratome of FAM20C, the Master Serine Kinase of the Secretory Pathway.Biomolecules · 2025Article
- Protein kinase FAM20C-when subcellular localization matters.FEBS letters · 2025Review
- Congenital disorders caused by aberrations in the biosynthesis of chondroitin/dermatan sulfate.Journal of human genetics · 2025Review
- Osteopontin: Its Properties, Recent Studies, and Potential Applications.International journal of molecular sciences · 2025Review
- Article
- FAM20C: A key protein kinase in multiple diseases.Genes & diseases · 2025Review
- A transgenic mouse line with a 58 kb fragment deletion shows skeletal defects.Scientific reports · 2025Article
- Mutant Fam20c knock-in mice recapitulate both lethal and non-lethal human Raine Syndrome.BMC molecular and cell biology · 2025Article
- Gingival proteomics reveals the role of TGF beta and YAP/TAZ signaling in Raine syndrome fibrosis.Scientific reports · 2024Article
- FAM20A is a golgi-localized Type II transmembrane protein.Scientific reports · 2024Article
- The Physiological Inorganic Polymers Biosilica and Polyphosphate as Key Drivers for Biomedical Materials in Regenerative Nanomedicine.International journal of nanomedicine · 2024Review
- An Introduction to Analytical Challenges, Approaches, and Applications in Mass Spectrometry-Based Secretomics.Molecular & cellular proteomics : MCP · 2023Review
- Fam20C overexpression in odontoblasts regulates dentin formation and odontoblast differentiation.Journal of molecular histology · 2023Article
- Fam20c regulates the calpain proteolysis system through phosphorylating Calpasatatin to maintain cell homeostasis.Journal of translational medicine · 2023Article
- Golgi-IP, a tool for multimodal analysis of Golgi molecular content.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Passing the post: roles of posttranslational modifications in the form and function of extracellular matrix.American journal of physiology. Cell physiology · 2023Review
- Intracranial calcification in Fam20c-deficient mice recapitulates human Raine syndrome.Neuroscience letters · 2023Article
- Regulation of secretory pathway kinase or kinase-like proteins in human cancers.Frontiers in immunology · 2023Review
- Compound heterozygousFrontiers in genetics · 2023Article
37 more citing papers are in PubMed but not listed here.
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
Abstract
Raine syndrome is caused by mutations in FAM20C, which had been reported to encode a secreted component of bone and teeth. We found that FAM20C encodes a Golgi-localized protein kinase, distantly related to the Golgi-localized kinase Four-jointed. Drosophila also encode a Golgi-localized protein kinase closely related to FAM20C. We show that FAM20C can phosphorylate secreted phosphoproteins, including both Casein and members of the SIBLING protein family, which modulate biomineralization, and we find that FAM20C phosphorylates a biologically active peptide at amino acids essential for inhibition of biomineralization. We also identify autophosphorylation of FAM20C, and characterize parameters of FAM20C's kinase activity, including its Km, pH and cation dependence, and substrate specificity. The biochemical properties of FAM20C match those of an enzymatic activity known as Golgi casein kinase. Introduction of point mutations identified in Raine syndrome patients into recombinant FAM20C impairs its normal localization and kinase activity. Our results identify FAM20C as a kinase for secreted phosphoproteins and establish a biochemical basis for Raine syndrome.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.