ATP2B4 - ATPase plasma membrane Ca2+ transporting 4 Gene
Also Known as MXRA1; PMCA4; ATP2B2; PMCA4b; PMCA4x
Species: Homo sapiens
About ATP2B4
This gene has 7 transcripts (splice variants), 219 orthologues and 21 paralogues. Ubiquitous expression in endometrium (RPKM 66.6), fat (RPKM 45.1) and 23 other tissues.
Summary
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 against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these Enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
ATP2B4 Products (8)
| mRNA | Protein | Name |
|---|---|---|
| NM_001365783.2 | NP_001352712.1 | plasma membrane calcium-transporting ATPase 4 isoform 4c |
| NM_001365784.2 | NP_001352713.1 | plasma membrane calcium-transporting ATPase 4 isoform 4c |
| NM_001684.5 | NP_001675.3 | plasma membrane calcium-transporting ATPase 4 isoform 4b |
| NM_001001396.3 | NP_001001396.1 | plasma membrane calcium-transporting ATPase 4 isoform 4a |
| NM_001001396.3 | NP_001001396.1 | plasma membrane calcium-transporting ATPase 4 isoform 4a |
| NM_001365783.2 | NP_001352712.1 | plasma membrane calcium-transporting ATPase 4 isoform 4c |
| NM_001365784.2 | NP_001352713.1 | plasma membrane calcium-transporting ATPase 4 isoform 4c |
| NM_001684.5 | NP_001675.3 | plasma membrane calcium-transporting ATPase 4 isoform 4b |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| enables P-type calcium transporter activity |
IMP
IMP: Inferred from mutant phenotype
|
8530416 | GOA |
| enables calcium ion transmembrane transporter activity |
IDA
IDA: Inferred from direct assay
|
23549614 | GOA |
| enables calmodulin binding |
IDA
IDA: Inferred from direct assay
|
8530416 | GOA |
| enables nitric-oxide synthase binding |
IPI
IPI: Inferred from physical interaction
|
11591728 | GOA |
| enables nitric-oxide synthase inhibitor activity |
IDA
IDA: Inferred from direct assay
|
11591728 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11274188 | GOA |
| enables protein phosphatase 2B binding |
IDA
IDA: Inferred from direct assay
|
19287093 | GOA |
| enables protein phosphatase 2B binding |
IMP
IMP: Inferred from mutant phenotype
|
25147342 | GOA |
| enables protein phosphatase 2B binding |
IPI
IPI: Inferred from physical interaction
|
15955804 | GOA |
| Cellular Component GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| located in T-tubule |
IDA
IDA: Inferred from direct assay
|
19287093 | GOA |
| located in Z disc |
IDA
IDA: Inferred from direct assay
|
19287093 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
8530416 | GOA |
| located in membrane raft |
IDA
IDA: Inferred from direct assay
|
23549614 | GOA |
ATP2B4 Protein Structure
ATPase-IIB_Ca: cl36924 (19 - 1051)
ATP_Ca_trans_C: pfam12424 (1088 - 1134)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1205 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
plasma membrane calcium-transporting ATPase 4 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| X-Linked Cerebellar Ataxia |
|
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| Cerebellar Angioblastoma |
|
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| Nemaline Myopathy 6 |
|
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| Schnyder Corneal Dystrophy |
|
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| Long Qt Syndrome |
|
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| Malaria |
|
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| Alpha-Thalassemia |
|
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| Hereditary Spastic Paraplegia |
|
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | ATP2B4 | MGD | MGI:88111 |
| Macaca mulatta | ATP2B4 | VGNC | VGNC:70183 |
| Bos taurus | ATP2B4 | VGNC | VGNC:97243 |
| Felis catus | ATP2B4 | VGNC | VGNC:68639 |
| Rattus norvegicus | ATP2B4 | RGD | RGD:621305 |
| Canis familiaris | ATP2B4 | VGNC | VGNC:38259 |
| Others | ATP2B4 | NCBI |