ATP2C1 Gene Summary [Human]
The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
Details
| Type | Protein Coding |
| Official Symbol | ATP2C1 |
| Official Name | ATPase secretory pathway Ca2+ transporting 1 [Source:HGNC Symbol;Acc:HGNC:13211] |
| Ensembl ID | ENSG00000017260 |
| Bio databases IDs | |
| Aliases | ATPase secretory pathway Ca2+ transporting 1, secretory pathway Ca2+/Mn2+ ATPase 1, calcium-transporting ATPase type 2C member 1 |
| Synonyms | 1700121J11Rik, ATP2C1A, ATPase, Ca++-sequestering, ATPase secretory pathway Ca2+ transporting 1, BCPM, D930003G21Rik, HHD, hSPCA1, LOC103690457, PMR1, SPCA, SPCA1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ATP2C1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- magnesium-translocating P-type ATPase
- Cation transporter/ATPase, N-terminus
- sarco/endoplasmic reticulum calcium-translocating P-type ATPase
- ATP binding
- heavy metal translocating P-type ATPase
- E1-E2 ATPase
- plasma-membrane proton-efflux P-type ATPase
- copper-(or silver)-translocating P-type ATPase
- nucleotide-binding domain
- plasma-membrane calcium-translocating P-type ATPase
- P domain
- Na,H/K antiporter P-type ATPase alpha subunit
- potassium and/or sodium efflux P-type ATPase, fungal-type
- Cation transport ATPase (P-type)
- loop domain
- Cation transporting ATPase, C-terminus
- actuator domain
- Ca2+-transporting ATPase
- cation-transporting ATPase
- heavy metal-(Cd/Co/Hg/Pb/Zn)-translocating P-type ATPase
- golgi membrane calcium-translocating P-type ATPase
- calcium ion binding
- P-type ATPase of unknown pump specificity (type V)
- ATPase, P-type (transporting), HAD superfamily, subfamily IC
- manganese ion transporter
- P-type ATPase
- K+-transporting ATPase, B subunit
- manganese ion binding
- Haloacid Dehalogenase-like Hydrolases
- transporter
Pathways
Biological processes and signaling networks where the ATP2C1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial neoplasia
- epithelial cancer
- cancer
- infection
- cardiovascular disorder
- postmenopausal osteoporosis
- eclampsia
- rheumatoid arthritis
- Hailey-Hailey disease
- stage V chronic kidney disease
role in cell
- cell viability
- apoptosis
- replication in
- differentiation
- expression in
- quantity
- organization
- morphology
- abnormal morphology
- degradation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- juxtanuclear Golgi region
- perinuclear region
- cellular membrane
- Golgi Apparatus
- cytosol
- Golgi membrane
- Golgi stacks
- trans Golgi network
- secretory granules
- Golgi cisternae
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ATP2C1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of Golgi to plasma membrane protein transport
- calcium-dependent cell-cell adhesion
- Golgi calcium ion transport
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- epidermis development
- cellular calcium ion homeostasis
- manganese ion transport
- manganese ion transmembrane transport
- calcium ion transport
- calcium ion transmembrane transport
- actin cytoskeleton organization
- Golgi calcium ion homeostasis
Cellular Component
Where in the cell the gene product is active
- trans-Golgi network
- Golgi cisterna membrane
- membrane
- endoplasmic reticulum
- Golgi apparatus
- Golgi membrane
- cis-Golgi network membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- metal ion binding
- calcium-transporting ATPase activity