Jump to content
 







Main menu
   


Navigation  



Main page
Contents
Current events
Random article
About Wikipedia
Contact us
Donate
 




Contribute  



Help
Learn to edit
Community portal
Recent changes
Upload file
 








Search  

































Create account

Log in
 









Create account
 Log in
 




Pages for logged out editors learn more  



Contributions
Talk
 



















Contents

   



(Top)
 


1 Function  





2 Clinical significance  





3 References  





4 Further reading  














FAM20C






العربية
مصرى
 

Edit links
 









Article
Talk
 

















Read
Edit
View history
 








Tools
   


Actions  



Read
Edit
View history
 




General  



What links here
Related changes
Upload file
Special pages
Permanent link
Page information
Cite this page
Get shortened URL
Download QR code
Wikidata item
 




Print/export  



Download as PDF
Printable version
 
















Appearance
   

 






From Wikipedia, the free encyclopedia
 


FAM20C
Identifiers
AliasesFAM20C, 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 kinase
External IDsOMIM: 611061; MGI: 2136853; HomoloGene: 56879; GeneCards: FAM20C; OMA:FAM20C - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_020223

NM_030565
NM_001359593

RefSeq (protein)

NP_064608

NP_085042
NP_001346522

Location (UCSC)Chr 7: 0.19 – 0.26 MbChr 5: 138.74 – 138.8 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Family with sequence similarity 20, member C also known as FAM20CorDMP4 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]

Function[edit]

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]

Clinical significance[edit]

Mutations in the FAM20C gene are associated with Raine syndrome.[7]

References[edit]

  • ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025854Ensembl, 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[edit]

  • 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.

  • t
  • e

  • Retrieved from "https://en.wikipedia.org/w/index.php?title=FAM20C&oldid=1188012076"

    Categories: 
    Genes on human chromosome 7
    Human chromosome 7 gene stubs
    Hidden categories: 
    Articles with short description
    Short description matches Wikidata
    All stub articles
     



    This page was last edited on 2 December 2023, at 21:09 (UTC).

    Text is available under the Creative Commons Attribution-ShareAlike License 4.0; additional terms may apply. By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia Foundation, Inc., a non-profit organization.



    Privacy policy

    About Wikipedia

    Disclaimers

    Contact Wikipedia

    Code of Conduct

    Developers

    Statistics

    Cookie statement

    Mobile view



    Wikimedia Foundation
    Powered by MediaWiki