AlphaFold predicted structure
ATP2C1 · P98194

Mean pLDDT
83.4/ 100
Confident
919 residues
Confidence breakdown
- Very high(≥ 90)35%
- Confident(70–90)54%
- Low(50–70)8%
- Very low(< 50)4%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ATPase secretory pathway Ca2+ transporting 1
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Epidermolysis bullosa and congenital skin fragility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHailey-Hailey disease
Familial benign chronic pemphigus
restless legs syndrome
movement disorder
cutaneous lupus erythematosus
systemic lupus erythematosus
autoimmune disorder of musculoskeletal system
neurodegenerative disease
placenta praevia
hereditary disease
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Calcium-transporting ATPase type 2C member 1
ATP-driven pump that supplies the Golgi apparatus with Ca(2+) and Mn(2+) ions, both essential cofactors for processing and trafficking of newly synthesized proteins in the secretory pathway (PubMed:12707275, PubMed:16192278, PubMed:20439740, PubMed:21187401, PubMed:30923126). Within a catalytic cycle, acquires Ca(2+) or Mn(2+) ions on the cytoplasmic side of the membrane and delivers them to the lumenal side. The transfer of ions across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation that shifts the pump conformation from inward-facing to outward-facing state (PubMed:16192278, PubMed:16332677, PubMed:30923126). Plays a primary role in the maintenance of Ca(2+) homeostasis in the trans-Golgi compartment with a functional impact on Golgi and post-Golgi protein sorting as well as a structural impact on cisternae morphology (PubMed:14632183, PubMed:20439740). Responsible for loading the Golgi stores with Ca(2+) ions in keratinocytes, contributing to keratinocyte differentiation and epidermis integrity (PubMed:10615129, PubMed:14632183, PubMed:20439740). Participates in Ca(2+) and Mn(2+) ions uptake into the Golgi store of hippocampal neurons and regulates protein trafficking required for neural polarity (By similarity). May also play a role in the maintenance of Ca(2+) and Mn(2+) homeostasis and signaling in the cytosol while preventing cytotoxicity (PubMed:21187401)
ATP2C1 · P98194

Mean pLDDT
83.4/ 100
Confident
919 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0