| Tbio | Plasma membrane calcium-transporting ATPase 1 |
This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell.
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 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
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 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count |
|---|---|
| Hypertensive disease | 292 |
| Disease | Target Count | P-value |
|---|---|---|
| osteosarcoma | 7950 | 7.1e-07 |
| Breast cancer | 3578 | 5.8e-06 |
| glioblastoma | 5792 | 1.7e-05 |
| ovarian cancer | 8520 | 2.2e-05 |
| atypical teratoid / rhabdoid tumor | 5112 | 3.4e-05 |
| cystic fibrosis | 1696 | 1.2e-04 |
| medulloblastoma | 720 | 2.7e-04 |
| pituitary cancer | 1972 | 5.1e-04 |
| adrenocortical carcinoma | 1428 | 7.4e-04 |
| primary Sjogren syndrome | 735 | 1.3e-03 |
| tuberculosis | 2010 | 1.4e-03 |
| astrocytic glioma | 2597 | 2.0e-03 |
| medulloblastoma, large-cell | 6241 | 2.4e-03 |
| adult high grade glioma | 3801 | 2.6e-03 |
| Astrocytoma, Pilocytic | 3081 | 3.2e-03 |
| primitive neuroectodermal tumor | 3035 | 3.4e-03 |
| ulcerative colitis | 1819 | 4.5e-03 |
| psoriasis | 6694 | 3.5e-02 |
| Barrett's esophagus | 182 | 3.6e-02 |
| Gaucher disease type 1 | 180 | 4.1e-02 |
| Parkinson's disease | 392 | 4.1e-02 |
| Rheumatoid arthritis | 1191 | 4.7e-02 |
| oligodendroglioma | 2850 | 4.8e-02 |
| ependymoma | 4679 | 5.0e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Essential Hypertension | 94 | 0.0 | 3.0 |
| Eye and adnexa disease | 18 | 0.0 | 0.9 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Autosomal dominant nonsyndromic deafness 25 | 6 | 3.802 | 1.9 |
| Schnyder Corneal Dystrophy | 23 | 3.794 | 1.9 |
| Disease | log2 FC | p |
|---|---|---|
| adrenocortical carcinoma | 1.112 | 7.4e-04 |
| adult high grade glioma | -1.400 | 2.6e-03 |
| astrocytic glioma | -2.000 | 2.0e-03 |
| Astrocytoma, Pilocytic | -1.500 | 3.2e-03 |
| atypical teratoid / rhabdoid tumor | -2.500 | 3.4e-05 |
| Barrett's esophagus | 1.100 | 3.6e-02 |
| Breast cancer | -1.100 | 5.8e-06 |
| cystic fibrosis | 1.136 | 1.2e-04 |
| ependymoma | -1.600 | 5.0e-02 |
| Gaucher disease type 1 | -1.500 | 4.1e-02 |
| glioblastoma | -1.300 | 1.7e-05 |
| medulloblastoma | -1.100 | 2.7e-04 |
| medulloblastoma, large-cell | -1.600 | 2.4e-03 |
| oligodendroglioma | -1.500 | 4.8e-02 |
| osteosarcoma | 3.233 | 7.1e-07 |
| ovarian cancer | -1.900 | 2.2e-05 |
| Parkinson's disease | -1.500 | 4.1e-02 |
| pituitary cancer | 1.200 | 5.1e-04 |
| primary Sjogren syndrome | 1.200 | 1.3e-03 |
| primitive neuroectodermal tumor | -1.700 | 3.4e-03 |
| psoriasis | 1.100 | 3.5e-02 |
| Rheumatoid arthritis | 1.500 | 4.7e-02 |
| tuberculosis | -1.700 | 1.4e-03 |
| ulcerative colitis | -1.140 | 4.5e-03 |
MGDMANNSVAYSGVKNSLKEANHDGDFGITLAELRALMELRSTDALRKIQESYGDVYGICTKLKTSPNEG 1 - 70 LSGNPADLERREAVFGKNFIPPKKPKTFLQLVWEALQDVTLIILEIAAIVSLGLSFYQPPEGDNALCGEV 71 - 140 SVGEEEGEGETGWIEGAAILLSVVCVVLVTAFNDWSKEKQFRGLQSRIEQEQKFTVIRGGQVIQIPVADI 141 - 210 TVGDIAQVKYGDLLPADGILIQGNDLKIDESSLTGESDHVKKSLDKDPLLLSGTHVMEGSGRMVVTAVGV 211 - 280 NSQTGIIFTLLGAGGEEEEKKDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEKDKK 281 - 350 KANLPKKEKSVLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFF 351 - 420 IIGVTVLVVAVPEGLPLAVTISLAYSVKKMMKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQA 421 - 490 YINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSKILPPEKEGGLPRHVGNKTECALLGLLLDLKRDY 491 - 560 QDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFSKGASEIILKKCFKILSANGEAKVFRPRDRD 561 - 630 DIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLTCIAVVGIEDPVRPEVPDAIKKCQRA 631 - 700 GITVRMVTGDNINTARAIATKCGILHPGEDFLCLEGKDFNRRIRNEKGEIEQERIDKIWPKLRVLARSSP 701 - 770 TDKHTLVKGIIDSTVSDQRQVVAVTGDGTNDGPALKKADVGFAMGIAGTDVAKEASDIILTDDNFTSIVK 771 - 840 AVMWGRNVYDSISKFLQFQLTVNVVAVIVAFTGACITQDSPLKAVQMLWVNLIMDTLASLALATEPPTES 841 - 910 LLLRKPYGRNKPLISRTMMKNILGHAFYQLVVVFTLLFAGEKFFDIDSGRNAPLHAPPSEHYTIVFNTFV 911 - 980 LMQLFNEINARKIHGERNVFEGIFNNAIFCTIVLGTFVVQIIIVQFGGKPFSCSELSIEQWLWSIFLGMG 981 - 1050 TLLWGQLISTIPTSRLKFLKEAGHGTQKEEIPEEELAEDVEEIDHAERELRRGQILWFRGLNRIQTQMDV 1051 - 1120 VNAFQSGSSIQGALRRQPSIASQHHDVTNISTPTHIRVVNAFRSSLYEGLEKPESRSSIHNFMTHPEFRI 1121 - 1190 EDSEPHIPLIDDTDAEDDAPTKRNSSPPPSPNKNNNAVDSGIHLTIEMNKSATSSSPGSPLHSLETSL 1191 - 1258 //
