ATP2B1
ATPase Plasma Membrane Ca2+ Transporting 1
Gene Information Card
| Symbol | ATP2B1 |
|---|---|
| Full Name | ATPase Plasma Membrane Ca2+ Transporting 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q21.33 |
| NCBI Gene ID | 490 ncbi.nlm.nih.gov/gene/490 |
| Ensembl ID | ENSG00000070961 |
| UniProt ID | P20020 |
| OMIM ID | 108731 |
| HGNC ID | 814 |
| Aliases | PMCA1, ATP2B1a, ATP2B1b |
Description
ATP2B1 encodes the plasma membrane calcium-transporting ATPase 1 (PMCA1), a P-type ATPase that pumps calcium ions out of cells, maintaining intracellular calcium homeostasis. It is ubiquitously expressed and critical for signal transduction, muscle contraction, and neuronal function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | Altered calcium handling in vascular smooth muscle cells affects blood pressure regulation. | ClinVar, OMIM |
| Hearing loss | Impaired calcium extrusion in cochlear hair cells leads to auditory dysfunction. | OMIM, NCBI |
| X-linked intellectual disability | Disrupted calcium signaling in neurons affects synaptic plasticity. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 15.2 | Medium |
| Liver | 8.3 | Low |
| Kidney | 18.7 | Medium |
| Lung | 10.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | High expression |
| HeLa | 11.5 | Moderate expression |
| K562 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Reduced calcium pump activity |
| c.2567G>A (p.Gly856Asp) | Missense | <0.01% | Altered ATP binding |
| c.3456_3457del | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt ATP binding reduce calcium efflux.
Gain of Function (GOF)
Not reported in ATP2B1.
Dominant Negative (DN)
Missense mutations that impair pump function may exert dominant-negative effects in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion transport | • ATP binding |
| • plasma membrane | • calcium-transporting ATPase activity |
| • ion transmembrane transport |
Pathways
• Calcium signaling pathway
• Smooth muscle contraction
• Alzheimer disease
Protein Summary
PMCA1 is a 1220-amino acid integral membrane protein with 10 transmembrane domains, a large cytoplasmic loop containing the ATP-binding and phosphorylation sites, and a C-terminal regulatory domain. It uses ATP to transport Ca2+ from the cytosol to the extracellular space, playing a key role in calcium homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP2B1 Knockout HEK293 Cell Line | EDJ-KQ1548 | Human | 490 | Details Get a Quote |
| ATP2B1 Knockout A-549 Cell Line | EDJ-KQ19858 | Human | 490 | Details Get a Quote |
| ATP2B1 Knockout HCT 116 Cell Line | EDJ-KQ21222 | Human | 490 | Details Get a Quote |
| ATP2B1 Knockout HeLa Cell Line | EDJ-KQ21223 | Human | 490 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
