FAM20C c.1433A>C ;(p.D478A)

Variant ID: 7-297040-A-C

NM_020223.3(FAM20C):c.1433A>C;(p.D478A)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Fam20C in Human Diseases: Emerging Biological Functions and Therapeutic Implications.

Frontiers In Molecular Biosciences
Xu, Rongsheng R; Tan, Huidan H; Zhang, Jiahui J; Yuan, Zhaoxin Z; Xie, Qiang Q; Zhang, Lan L
Publication Date: 2021

Variant appearance in text: FAM20C: D478A
PubMed Link: 34988120
Variant Present in the following documents:
  • Main text
  • fmolb-08-790172.pdf
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Proteolytic processing of secretory pathway kinase Fam20C by site-1 protease promotes biomineralization.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Chen, Xinxin X; Zhang, Jianchao J; Liu, Pulan P; Wei, Yangyang Y; Wang, Xi'e X; Xiao, Junyu J; Wang, Chih-Chen CC; Wang, Lei L
Publication Date: 2021-08-10

Variant appearance in text: FAM20C: D478A
PubMed Link: 34349020
Variant Present in the following documents:
  • Main text
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FAM20C directly binds to and phosphorylates Periostin.

Scientific Reports
Lin, Ju-Hsien JH; Lin, I-Ping IP; Ohyama, Yoshio Y; Mochida, Hanna H; Kudo, Akira A; Kaku, Masaru M; Mochida, Yoshiyuki Y
Publication Date: 2020-10-13

Variant appearance in text: FAM20C: D478A
PubMed Link: 33051588
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_74400.pdf
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Fam20C regulates protein secretion by Cab45 phosphorylation.

The Journal Of Cell Biology
Hecht, Tobias Karl-Heinz TK; Blank, Birgit B; Steger, Martin M; Lopez, Victor V; Beck, Gisela G; Ramazanov, Bulat B; Mann, Matthias M; Tagliabracci, Vincent V; von Blume, Julia J
Publication Date: 2020-06-01

Variant appearance in text: DMP4: D478A
PubMed Link: 32422653
Variant Present in the following documents:
  • Main text
  • JCB_201910089.pdf
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Phosphorylation switches protein disulfide isomerase activity to maintain proteostasis and attenuate ER stress.

The Embo Journal
Yu, Jiaojiao J; Li, Tao T; Liu, Yu Y; Wang, Xi X; Zhang, Jianchao J; Wang, Xi'e X; Shi, Guizhi G; Lou, Jizhong J; Wang, Likun L; Wang, Chih-Chen CC; Wang, Lei L
Publication Date: 2020-05-18

Variant appearance in text: FAM20C: D478A
PubMed Link: 32149426
Variant Present in the following documents:
  • Main text
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Ser-Phosphorylation of PCSK9 (Proprotein Convertase Subtilisin-Kexin 9) by Fam20C (Family With Sequence Similarity 20, Member C) Kinase Enhances Its Ability to Degrade the LDLR (Low-Density Lipoprotein Receptor).

Arteriosclerosis, Thrombosis, And Vascular Biology
Ben Djoudi Ouadda, Ali A; Gauthier, Marie-Soleil MS; Susan-Resiga, Delia D; Girard, Emmanuelle E; Essalmani, Rachid R; Black, Miles M; Marcinkiewicz, Jadwiga J; Forget, Diane D; Hamelin, Josée J; Evagelidis, Alexandra A; Ly, Kevin K; Day, Robert R; Galarneau, Luc L; Corbin, Francois F; Coulombe, Benoit B; Çaku, Artuela A; Tagliabracci, Vincent S VS; Seidah, Nabil G NG
Publication Date: 2019-10

Variant appearance in text: FAM20C: D478A
PubMed Link: 31553664
Variant Present in the following documents:
  • Main text
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In vitro phosphorylation of von Willebrand factor by FAM20c enhances its ability to support platelet adhesion.

Journal Of Thrombosis And Haemostasis : Jth
Da, Qi Q; Han, Hyojeong H; Valladolid, Christian C; Fernández, María M; Khatlani, Tanvir T; Pradhan, Subhashree S; Nolasco, Jennifer J; Matsunami, Risë K RK; Engler, David A DA; Cruz, Miguel A MA; Vijayan, K Vinod KV
Publication Date: 2019-06

Variant appearance in text: FAM20C: D478A
PubMed Link: 30864273
Variant Present in the following documents:
  • Main text
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A secretory pathway kinase regulates sarcoplasmic reticulum Ca2+ homeostasis and protects against heart failure.

Elife
Pollak, Adam J AJ; Liu, Canzhao C; Gudlur, Aparna A; Mayfield, Joshua E JE; Dalton, Nancy D ND; Gu, Yusu Y; Chen, Ju J; Heller Brown, Joan J; Hogan, Patrick G PG; Wiley, Sandra E SE; Peterson, Kirk L KL; Dixon, Jack E JE
Publication Date: 2018-12-06

Variant appearance in text: FAM20C: D478A
PubMed Link: 30520731
Variant Present in the following documents:
  • Main text
  • elife-41378.pdf
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Secretory kinase Fam20C tunes endoplasmic reticulum redox state via phosphorylation of Ero1α.

The Embo Journal
Zhang, Jianchao J; Zhu, Qinyu Q; Wang, Xi'e X; Yu, Jiaojiao J; Chen, Xinxin X; Wang, Jifeng J; Wang, Xi X; Xiao, Junyu J; Wang, Chih-Chen CC; Wang, Lei L
Publication Date: 2018-07-13

Variant appearance in text: FAM20C: D478A
PubMed Link: 29858230
Variant Present in the following documents:
  • Main text
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Structure of Fam20A reveals a pseudokinase featuring a unique disulfide pattern and inverted ATP-binding.

Elife
Cui, Jixin J; Zhu, Qinyu Q; Zhang, Hui H; Cianfrocco, Michael A MA; Leschziner, Andres E AE; Dixon, Jack E JE; Xiao, Junyu J
Publication Date: 2017-04-22

Variant appearance in text: FAM20C: D478A
PubMed Link: 28432788
Variant Present in the following documents:
  • Main text
  • elife-23990.pdf
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FAM20A binds to and regulates FAM20C localization.

Scientific Reports
Ohyama, Yoshio Y; Lin, Ju-Hsien JH; Govitvattana, Nattanan N; Lin, I-Ping IP; Venkitapathi, Sundharamani S; Alamoudi, Ahmed A; Husein, Dina D; An, Chunying C; Hotta, Hak H; Kaku, Masaru M; Mochida, Yoshiyuki Y
Publication Date: 2016-06-13

Variant appearance in text: FAM20C: D478A
PubMed Link: 27292199
Variant Present in the following documents:
  • Main text
  • srep27784.pdf
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A Single Kinase Generates the Majority of the Secreted Phosphoproteome.

Cell
Tagliabracci, Vincent S VS; Wiley, Sandra E SE; Guo, Xiao X; Kinch, Lisa N LN; Durrant, Eric E; Wen, Jianzhong J; Xiao, Junyu J; Cui, Jixin J; Nguyen, Kim B KB; Engel, James L JL; Coon, Joshua J JJ; Grishin, Nick N; Pinna, Lorenzo A LA; Pagliarini, David J DJ; Dixon, Jack E JE
Publication Date: 2015-06-18

Variant appearance in text: FAM20C: D478A
PubMed Link: 26091039
Variant Present in the following documents:
  • Main text
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Phosphorylation and Alternative Splicing of 7B2 Reduce Prohormone Convertase 2 Activation.

Molecular Endocrinology (Baltimore, Md.)
Ramos-Molina, Bruno B; Lindberg, Iris I
Publication Date: 2015-05

Variant appearance in text: FAM20C: D478A
PubMed Link: 25811241
Variant Present in the following documents:
  • Main text
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A secretory kinase complex regulates extracellular protein phosphorylation.

Elife
Cui, Jixin J; Xiao, Junyu J; Tagliabracci, Vincent S VS; Wen, Jianzhong J; Rahdar, Meghdad M; Dixon, Jack E JE
Publication Date: 2015-03-19

Variant appearance in text: FAM20C: D478A
PubMed Link: 25789606
Variant Present in the following documents:
  • Main text
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FGF23 is endogenously phosphorylated in bone cells.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Lindberg, Iris I; Pang, Hong Weng HW; Stains, Joseph P JP; Clark, David D; Yang, Austin J AJ; Bonewald, Lynda L; Li, Kevin Z KZ
Publication Date: 2015-03

Variant appearance in text: FAM20C: D478A
PubMed Link: 25195776
Variant Present in the following documents:
  • Main text
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Dynamic regulation of FGF23 by Fam20C phosphorylation, GalNAc-T3 glycosylation, and furin proteolysis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Tagliabracci, Vincent S VS; Engel, James L JL; Wiley, Sandra E SE; Xiao, Junyu J; Gonzalez, David J DJ; Nidumanda Appaiah, Hitesh H; Koller, Antonius A; Nizet, Victor V; White, Kenneth E KE; Dixon, Jack E JE
Publication Date: 2014-04-15

Variant appearance in text: FAM20C: D478A
PubMed Link: 24706917
Variant Present in the following documents:
  • Main text
View BVdb publication page