Identity
HGNC
LOCATION
3q22.1
LOCUSID
ALIAS
ATP2C1A,BCPM,HHD,PMR1,SPCA1,hSPCA1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 27032
MIM: 604384
HGNC: 13211
Ensembl: ENSG00000017260
Variants:
dbSNP: 27032
ClinVar: 27032
TCGA: ENSG00000017260
COSMIC: ATP2C1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Transmembrane transport of small molecules | REACTOME | R-HSA-382551 |
| Ion channel transport | REACTOME | R-HSA-983712 |
| Ion transport by P-type ATPases | REACTOME | R-HSA-936837 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36789506 | 2023 | Loss of ATP2C1 function promotes trafficking and degradation of NOTCH1: Implications for Hailey-Hailey disease. | 0 |
| 36789506 | 2023 | Loss of ATP2C1 function promotes trafficking and degradation of NOTCH1: Implications for Hailey-Hailey disease. | 0 |
| 35274376 | 2022 | Two novel mutations in the ATP2C1 gene found in Japanese patients with Hailey-Hailey disease. | 1 |
| 35787370 | 2022 | Calcium and the Ca-ATPase SPCA1 modulate plasma membrane abundance of ZIP8 and ZIP14 to regulate Mn(II) uptake in brain microvascular endothelial cells. | 6 |
| 35274376 | 2022 | Two novel mutations in the ATP2C1 gene found in Japanese patients with Hailey-Hailey disease. | 1 |
| 35787370 | 2022 | Calcium and the Ca-ATPase SPCA1 modulate plasma membrane abundance of ZIP8 and ZIP14 to regulate Mn(II) uptake in brain microvascular endothelial cells. | 6 |
| 33345454 | 2021 | Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review. | 3 |
| 33801794 | 2021 | Crosstalk among Calcium ATPases: PMCA, SERCA and SPCA in Mental Diseases. | 3 |
| 33926923 | 2021 | Genome-wide association study identifies RNF123 locus as associated with chronic widespread musculoskeletal pain. | 20 |
| 33345454 | 2021 | Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review. | 3 |
| 33801794 | 2021 | Crosstalk among Calcium ATPases: PMCA, SERCA and SPCA in Mental Diseases. | 3 |
| 33926923 | 2021 | Genome-wide association study identifies RNF123 locus as associated with chronic widespread musculoskeletal pain. | 20 |
| 31983024 | 2020 | Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease. | 1 |
| 32335229 | 2020 | SPCA1 governs the stability of TMEM165 in Hailey-Hailey disease. | 5 |
| 32817219 | 2020 | The Golgi Calcium ATPase Pump Plays an Essential Role in Adeno-associated Virus Trafficking and Transduction. | 14 |
Citation
Dessen P
ATP2C1 (ATPase secretory pathway Ca2+ transporting 1)
Atlas Genet Cytogenet Oncol Haematol. 2017-11-01
Online version: http://atlasgeneticsoncology.org/gene/57232/atp2c1-(atpase-secretory-pathway-ca2+-transporting-1)
