Family with sequence similarity 20, member C also known as FAM20C or DMP4 is a protein which in humans is encoded by the FAM20Cgene.[5][6][7] Fam20C, a Golgi localized protein kinase, is a serine kinase that phosphorylates both casein and other highly acidic proteins and members of the small integrin-binding ligand, the N-linked glycoproteins (SIBLING) family at the target motif SerXGlu.[8]
Dmp4 causes differentiation of mesenchymal stem cells into functional odontoblast cells and is likely to function as a regulator of dentin mineralization.[6][9] FAM20C is a secretory kinase, responsible for the phosphorylation of all secreted proteins, from milk to bone proteins.[8] Phosphorylation by Fam20C in the secretory pathway is essential for proper biomineralization of bone. The substrate specificity of FAM20C indicates, however, that it is not likely to account for the tyrosine phosphorylation of the secreted protein. The characterization of FAM20C as an active serine kinase in the Golgi apparatus provides a clear precedent that ATP dependent protein phosphorylation can take place in the secretory apparatus.[8][10][11] Fam20C knockout mice develop severe hypophosphatemic rickets due to an increased renal phosphate wasting that is likely attributed to the remarkable elevation of serum fibroblast growth factor 23 (FGF23),[12] while their dentin and enamel defects are largely independent from the hypophosphatemia and appear to be a local effects of phosphorylation failure in the secretory calcium-binding phosphoproteins (SCPPs)[12][13][14]
^ abcGRCm38: Ensembl release 89: ENSMUSG00000025854 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Nalbant D, Youn H, Nalbant SI, Sharma S, Cobos E, Beale EG, Du Y, Williams SC (2005). "FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells". BMC Genomics. 6: 11. doi:10.1186/1471-2164-6-11. PMC548683. PMID 15676076.
^ abHao J, Narayanan K, Muni T, Ramachandran A, George A (May 2007). "Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates odontoblast differentiation". The Journal of Biological Chemistry. 282 (21): 15357–65. doi:10.1074/jbc.M701547200. PMID 17369251.
^ abSimpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, Zackai EH, Al-Gazali LI, Hulskamp G, Kingston HM, Prescott TE, Ion A, Patton MA, Murday V, George A, Crosby AH (Nov 2007). "Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development". American Journal of Human Genetics. 81 (5): 906–12. doi:10.1086/522240. PMC2265657. PMID 17924334.
^ abcTagliabracci VS, Engel JL, Wen J, Wiley SE, Worby CA, Kinch LN, Xiao J, Grishin NV, Dixon JE (Jun 2012). "Secreted kinase phosphorylates extracellular proteins that regulate biomineralization". Science. 336 (6085): 1150–3. Bibcode:2012Sci...336.1150T. doi:10.1126/science.1217817. PMC3754843. PMID 22582013.
^Wang X, Hao J, Xie Y, Sun Y, Hernandez B, Yamoah AK, Prasad M, Zhu Q, Feng JQ, Qin C (Nov 2010). "Expression of FAM20C in the osteogenesis and odontogenesis of mouse". The Journal of Histochemistry and Cytochemistry. 58 (11): 957–67. doi:10.1369/jhc.2010.956565. PMC2958138. PMID 20644212.
^Yalak G, Vogel V (Dec 2012). "Extracellular phosphorylation and phosphorylated proteins: not just curiosities but physiologically important". Science Signaling. 5 (255): re7. doi:10.1126/scisignal.2003273. PMID 23250399. S2CID 205449.
^Tagliabracci VS, Pinna LA, Dixon JE (Mar 2013). "Secreted protein kinases". Trends in Biochemical Sciences. 38 (3): 121–30. doi:10.1016/j.tibs.2012.11.008. PMC3582740. PMID 23276407.
^ abWang X, Wang S, Li C, Gao T, Liu Y, Rangiani A, Sun Y, Hao J, George A, Lu Y, Groppe J, Yuan B, Feng JQ, Qin C (2012). "Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice". PLOS Genetics. 8 (5): e1002708. doi:10.1371/journal.pgen.1002708. PMC3355082. PMID 22615579.
^Wang X, Jung J, Liu Y, Yuan B, Lu Y, Feng JQ, Qin C (Nov 2013). "The specific role of FAM20C in amelogenesis". Journal of Dental Research. 92 (11): 995–9. doi:10.1177/0022034513504588. PMC3797537. PMID 24026952.
^Wang X, Wang J, Liu Y, Yuan B, Ruest LB, Feng JQ, Qin C (Feb 2015). "The specific role of FAM20C in dentinogenesis". Journal of Dental Research. 94 (2): 330–6. doi:10.1177/0022034514563334. PMC4300304. PMID 25515778.
Further readingedit
Hao J, Narayanan K, Muni T, Ramachandran A, George A (May 2007). "Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates odontoblast differentiation". The Journal of Biological Chemistry. 282 (21): 15357–65. doi:10.1074/jbc.M701547200. PMID 17369251.
Simpson MA, Scheuerle A, Hurst J, Patton MA, Stewart H, Crosby AH (Mar 2009). "Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia". Clinical Genetics. 75 (3): 271–6. doi:10.1111/j.1399-0004.2008.01118.x. PMID 19250384. S2CID 22696170.
This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it.
fam20c, family, with, sequence, similarity, member, also, known, dmp4, protein, which, humans, encoded, gene, fam20c, golgi, localized, protein, kinase, serine, kinase, that, phosphorylates, both, casein, other, highly, acidic, proteins, members, small, integr. Family with sequence similarity 20 member C also known as FAM20C or DMP4 is a protein which in humans is encoded by the FAM20C gene 5 6 7 Fam20C a Golgi localized protein kinase is a serine kinase that phosphorylates both casein and other highly acidic proteins and members of the small integrin binding ligand the N linked glycoproteins SIBLING family at the target motif SerXGlu 8 FAM20CIdentifiersAliasesFAM20C DMP 4 DMP4 GEF CK RNS family with sequence similarity 20 member C G CK golgi associated secretory pathway kinase FAM20C golgi associated secretory pathway kinaseExternal IDsOMIM 611061 MGI 2136853 HomoloGene 56879 GeneCards FAM20CGene location Human Chr Chromosome 7 human 1 Band7p22 3Start192 571 bp 1 End260 772 bp 1 Gene location Mouse Chr Chromosome 5 mouse 2 Band5 5 G2Start138 740 269 bp 2 End138 795 832 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inright lobe of liverkidneybody of stomachascending aortapopliteal arteryright coronary arteryleft coronary arteryfundustibial nerveprostateTop expressed inmolarmedial geniculate nucleusislet of Langerhansmedial dorsal nucleusolfactory bulbstria vascularisproximal tubulelateral geniculate nucleusleft lobe of liverperiodontal fiberMore reference expression dataBioGPSn aGene ontologyMolecular functiontransferase activity nucleotide binding calcium ion binding manganese ion binding metal ion binding kinase activity protein binding ATP binding protein serine threonine kinase activity phosphotransferase activity alcohol group as acceptorCellular componentGolgi apparatus extracellular region extracellular exosome extracellular space cytoplasm endoplasmic reticulum lumenBiological processskeletal system development phosphorylation positive regulation of bone mineralization osteoclast maturation biomineral tissue development regulation of fibroblast growth factor receptor signaling pathway dentinogenesis regulation of phosphorus metabolic process protein phosphorylation positive regulation of osteoblast differentiation enamel mineralization odontoblast differentiation ATP metabolic process post translational protein modificationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez5697580752EnsemblENSG00000177706ENSG00000281429ENSG00000282147ENSG00000288499ENSMUSG00000025854UniProtQ8IXL6Q5MJS3RefSeq mRNA NM 020223NM 030565NM 001359593RefSeq protein NP 064608NP 085042NP 001346522Location UCSC Chr 7 0 19 0 26 MbChr 5 138 74 138 8 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical significance 3 References 4 Further readingFunction editDmp4 causes differentiation of mesenchymal stem cells into functional odontoblast cells and is likely to function as a regulator of dentin mineralization 6 9 FAM20C is a secretory kinase responsible for the phosphorylation of all secreted proteins from milk to bone proteins 8 Phosphorylation by Fam20C in the secretory pathway is essential for proper biomineralization of bone The substrate specificity of FAM20C indicates however that it is not likely to account for the tyrosine phosphorylation of the secreted protein The characterization of FAM20C as an active serine kinase in the Golgi apparatus provides a clear precedent that ATP dependent protein phosphorylation can take place in the secretory apparatus 8 10 11 Fam20C knockout mice develop severe hypophosphatemic rickets due to an increased renal phosphate wasting that is likely attributed to the remarkable elevation of serum fibroblast growth factor 23 FGF23 12 while their dentin and enamel defects are largely independent from the hypophosphatemia and appear to be a local effects of phosphorylation failure in the secretory calcium binding phosphoproteins SCPPs 12 13 14 Clinical significance editMutations in the FAM20C gene are associated with Raine syndrome 7 References edit a b c ENSG00000281429 ENSG00000282147 ENSG00000288499 GRCh38 Ensembl release 89 ENSG00000177706 ENSG00000281429 ENSG00000282147 ENSG00000288499 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000025854 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Nalbant D Youn H Nalbant SI Sharma S Cobos E Beale EG Du Y Williams SC 2005 FAM20 an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells BMC Genomics 6 11 doi 10 1186 1471 2164 6 11 PMC 548683 PMID 15676076 a b Hao J Narayanan K Muni T Ramachandran A George A May 2007 Dentin matrix protein 4 a novel secretory calcium binding protein that modulates odontoblast differentiation The Journal of Biological Chemistry 282 21 15357 65 doi 10 1074 jbc M701547200 PMID 17369251 a b Simpson MA Hsu R Keir LS Hao J Sivapalan G Ernst LM Zackai EH Al Gazali LI Hulskamp G Kingston HM Prescott TE Ion A Patton MA Murday V George A Crosby AH Nov 2007 Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia Raine syndrome highlighting a crucial molecule in bone development American Journal of Human Genetics 81 5 906 12 doi 10 1086 522240 PMC 2265657 PMID 17924334 a b c Tagliabracci VS Engel JL Wen J Wiley SE Worby CA Kinch LN Xiao J Grishin NV Dixon JE Jun 2012 Secreted kinase phosphorylates extracellular proteins that regulate biomineralization Science 336 6085 1150 3 Bibcode 2012Sci 336 1150T doi 10 1126 science 1217817 PMC 3754843 PMID 22582013 Wang X Hao J Xie Y Sun Y Hernandez B Yamoah AK Prasad M Zhu Q Feng JQ Qin C Nov 2010 Expression of FAM20C in the osteogenesis and odontogenesis of mouse The Journal of Histochemistry and Cytochemistry 58 11 957 67 doi 10 1369 jhc 2010 956565 PMC 2958138 PMID 20644212 Yalak G Vogel V Dec 2012 Extracellular phosphorylation and phosphorylated proteins not just curiosities but physiologically important Science Signaling 5 255 re7 doi 10 1126 scisignal 2003273 PMID 23250399 S2CID 205449 Tagliabracci VS Pinna LA Dixon JE Mar 2013 Secreted protein kinases Trends in Biochemical Sciences 38 3 121 30 doi 10 1016 j tibs 2012 11 008 PMC 3582740 PMID 23276407 a b Wang X Wang S Li C Gao T Liu Y Rangiani A Sun Y Hao J George A Lu Y Groppe J Yuan B Feng JQ Qin C 2012 Inactivation of a novel FGF23 regulator FAM20C leads to hypophosphatemic rickets in mice PLOS Genetics 8 5 e1002708 doi 10 1371 journal pgen 1002708 PMC 3355082 PMID 22615579 Wang X Jung J Liu Y Yuan B Lu Y Feng JQ Qin C Nov 2013 The specific role of FAM20C in amelogenesis Journal of Dental Research 92 11 995 9 doi 10 1177 0022034513504588 PMC 3797537 PMID 24026952 Wang X Wang J Liu Y Yuan B Ruest LB Feng JQ Qin C Feb 2015 The specific role of FAM20C in dentinogenesis Journal of Dental Research 94 2 330 6 doi 10 1177 0022034514563334 PMC 4300304 PMID 25515778 Further reading editHao J Narayanan K Muni T Ramachandran A George A May 2007 Dentin matrix protein 4 a novel secretory calcium binding protein that modulates odontoblast differentiation The Journal of Biological Chemistry 282 21 15357 65 doi 10 1074 jbc M701547200 PMID 17369251 Simpson MA Scheuerle A Hurst J Patton MA Stewart H Crosby AH Mar 2009 Mutations in FAM20C also identified in non lethal osteosclerotic bone dysplasia Clinical Genetics 75 3 271 6 doi 10 1111 j 1399 0004 2008 01118 x PMID 19250384 S2CID 22696170 nbsp This article on a gene on human chromosome 7 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title FAM20C amp oldid 1188012076, wikipedia, wiki, book, books, library,
