Variant ID: 7-297040-A-C

NM_020223.3(FAM20C):c.1433A>C;(p.Asp478Ala)

This variant was identified in 10 publications




Publications:


FAM20C directly binds to and phosphorylates Periostin.

Scientific Reports
JH Lin, IP Lin, Y Ohyama, H Mochida, A Kudo, M Kaku, Y Mochida
Publication Date: 2020-10-13

Variant appearance in text: FAM20C: D478A
PubMed Link: 33051588
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
A Ben Djoudi Ouadda, MS Gauthier, D Susan-Resiga, E Girard, R Essalmani, M Black, J Marcinkiewicz, D Forget, J Hamelin, A Evagelidis, K Ly, R Day, L Galarneau, F Corbin, B Coulombe, A Çaku, VS Tagliabracci, NG Seidah
Publication Date: 2019-10

Variant appearance in text: FAM20C: D478A
PubMed Link: 31553664
Variant Present in the following documents:
  • Main text
View BVdb publication page



In vitro phosphorylation of von Willebrand factor by FAM20c enhances its ability to support platelet adhesion.

Journal Of Thrombosis And Haemostasis : Jth
Q Da, H Han, C Valladolid, M Fernández, T Khatlani, S Pradhan, J Nolasco, RK Matsunami, DA Engler, MA Cruz, KV Vijayan
Publication Date: 2019-06

Variant appearance in text: FAM20C: D478A
PubMed Link: 30864273
Variant Present in the following documents:
  • Main text
View BVdb publication page



Secretory kinase Fam20C tunes endoplasmic reticulum redox state via phosphorylation of Ero1α.

The Embo Journal
J Zhang, Q Zhu, X Wang, J Yu, X Chen, J Wang, X Wang, J Xiao, CC Wang, L Wang
Publication Date: 2018-07-13

Variant appearance in text: FAM20C: D478A
PubMed Link: 29858230
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure of Fam20A reveals a pseudokinase featuring a unique disulfide pattern and inverted ATP-binding.

Elife
J Cui, Q Zhu, H Zhang, MA Cianfrocco, AE Leschziner, JE Dixon, J Xiao
Publication Date: 2017-04-22

Variant appearance in text: FAM20C: D478A
PubMed Link: 28432788
Variant Present in the following documents:
  • Main text
View BVdb publication page



FAM20A binds to and regulates FAM20C localization.

Scientific Reports
Y Ohyama, JH Lin, N Govitvattana, IP Lin, S Venkitapathi, A Alamoudi, D Husein, C An, H Hotta, M Kaku, Y Mochida
Publication Date: 2016-06-13

Variant appearance in text: FAM20C: D478A
PubMed Link: 27292199
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Single Kinase Generates the Majority of the Secreted Phosphoproteome.

Cell
VS Tagliabracci, SE Wiley, X Guo, LN Kinch, E Durrant, J Wen, J Xiao, J Cui, KB Nguyen, JL Engel, JJ Coon, N Grishin, LA Pinna, DJ Pagliarini, JE Dixon
Publication Date: 2015-06-18

Variant appearance in text: FAM20C: D478A
PubMed Link: 26091039
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phosphorylation and Alternative Splicing of 7B2 Reduce Prohormone Convertase 2 Activation.

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

Variant appearance in text: FAM20C: D478A
PubMed Link: 25811241
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
I Lindberg, HW Pang, JP Stains, D Clark, AJ Yang, L Bonewald, KZ Li
Publication Date: 2015-03

Variant appearance in text: FAM20C: D478A
PubMed Link: 25195776
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
VS Tagliabracci, JL Engel, SE Wiley, J Xiao, DJ Gonzalez, H Nidumanda Appaiah, A Koller, V Nizet, KE White, JE Dixon
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



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000313766.5 c.1433A>C p.Asp478Ala missense_variant 8/10 -
ENST00000512382.1 n.639A>C - non_coding_transcript_exon_variant 2/2 -
ENST00000515795.1 n.1090A>C - non_coding_transcript_exon_variant 5/7 -
NM_020223.4 c.1433A>C p.Asp478Ala missense_variant 8/10 -