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FAM20C
an atypical serine protein kinase that localizes within the Golgi apparatus and is secreted. Distantly related to the Drosophila Golgi-localized kinase Four-jointed. Phosphorylates secretory proteins including the caseins and members of the small integrin-binding ligand, N-linked glycoprotein (SIBLING) protein family, which modulate biomineralization. Colocalizes with the Golgi resident protein GM130. Preferentially phosphorylates its targets within the S-x-E/pS motif. Requires Mn2+ as an alternative to Mg2+ as the activating cation. Defects in FAM20C are the cause of Raine syndrome (RNS). RNS is an autosomal recessive osteosclerotic bone dysplasia with neonatal lethal outcome. Clinical features include generalized osteosclerosis, craniofacial dysplasia and microcephaly. Two isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
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| Protein type: Secreted, signal peptide; Protein kinase, Ser/Thr (non-receptor); Secreted; EC 2.7.11.1 |
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Cellular Component: extracellular region
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Molecular Function: protein serine/threonine kinase activity; metal ion binding
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Biological Process: biomineral formation
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Reference #:
Q8IXL6 (UniProtKB)
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| Alt. Names/Synonyms: Dentin matrix protein 4; DKFZp547C074; DMP-4; DMP4; FAM20C; family with sequence similarity 20, member C; Protein FAM20C; RNS |
| Gene Symbols: FAM20C |
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Molecular weight: 66,234 Da
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Basal Isoelectric point: 7.65
Predict pI for various phosphorylation states
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