ATP2B1 (ATPase plasma membrane Ca2+ transporting 1)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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490 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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ATPase plasma membrane Ca2+ transporting 1 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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ATP2B1 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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MRD66, PMCA1, PMCA1kb |
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Chromosome
Chromosome number
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12 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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12q21.33 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||||||||||||||||||||||||||||||||
| UniProt ID | P20020 | ||||||||||||||||||||||||||||||||||||||||
| Protein name | Plasma membrane calcium-transporting ATPase 1 (EC 7.2.2.10) (Plasma membrane calcium ATPase isoform 1) (PMCA1) (Plasma membrane calcium pump isoform 1) | ||||||||||||||||||||||||||||||||||||||||
| Protein function | Catalyzes the hydrolysis of ATP coupled with the transport of calcium from the cytoplasm to the extracellular space thereby maintaining intracellular calcium homeostasis (PubMed:35358416). Plays a role in blood pressure regulation through regula | ||||||||||||||||||||||||||||||||||||||||
| PDB | 6A69 | ||||||||||||||||||||||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Isoform B: Ubiquitously expressed. Isoform C: Found in brain cortex, skeletal muscle and heart muscle. Isoform D: Has only been found in fetal skeletal muscle. Isoform K: Found in small intestine and liver. Abundantly expressed in the | ||||||||||||||||||||||||||||||||||||||||
| Sequence | |||||||||||||||||||||||||||||||||||||||||
| Sequence length | 1220 | ||||||||||||||||||||||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||||||||||||||||||||||
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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