ATP2A1
Summary: This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 | MIM:108730 | Ensembl:ENSG00000196296 | HGNC:HGNC:811 | PA25105 | 16p11.2 |
GO terms in ATP2A1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0005388 | calcium-transporting ATPase activity |
| MF | IDA | GO:0005388 | calcium-transporting ATPase activity |
| MF | TAS | GO:0005388 | calcium-transporting ATPase activity |
| MF | IMP | GO:0005509 | calcium ion binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IBA | GO:0008553 | proton-exporting ATPase activity, phosphorylative mechanism |
| MF | IPI | GO:0042803 | protein homodimerization activity |
| CC | IEA | GO:0005739 | mitochondrion |
| CC | TAS | GO:0005789 | endoplasmic reticulum membrane |
| CC | NAS | GO:0016021 | integral component of membrane |
| CC | NAS | GO:0016529 | sarcoplasmic reticulum |
| CC | TAS | GO:0031095 | platelet dense tubular network membrane |
| CC | IBA | GO:0033017 | sarcoplasmic reticulum membrane |
| CC | IC | GO:0033017 | sarcoplasmic reticulum membrane |
| CC | ISS | GO:0033017 | sarcoplasmic reticulum membrane |
| CC | TAS | GO:0033017 | sarcoplasmic reticulum membrane |
| CC | IC | GO:0034704 | calcium channel complex |
| BP | IMP | GO:0006816 | calcium ion transport |
| BP | IBA | GO:0006874 | cellular calcium ion homeostasis |
| BP | IMP | GO:0008637 | apoptotic mitochondrial changes |
| BP | IDA | GO:0031448 | positive regulation of fast-twitch skeletal muscle fiber contraction |
| BP | IMP | GO:0032470 | positive regulation of endoplasmic reticulum calcium ion concentration |
| BP | IMP | GO:0032471 | negative regulation of endoplasmic reticulum calcium ion concentration |
| BP | TAS | GO:0034220 | ion transmembrane transport |
| BP | IMP | GO:0034976 | response to endoplasmic reticulum stress |
| BP | IMP | GO:0051561 | positive regulation of mitochondrial calcium ion concentration |
| BP | IMP | GO:0051659 | maintenance of mitochondrion location |
| BP | IMP | GO:0070059 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress |
| BP | IMP | GO:0070509 | calcium ion import |
| BP | IBA | GO:0070588 | calcium ion transmembrane transport |
| BP | IEA | GO:0070588 | calcium ion transmembrane transport |
| BP | IDA | GO:0090076 | relaxation of skeletal muscle |
| BP | IEA | GO:0099132 | ATP hydrolysis coupled cation transmembrane transport |
| BP | TAS | GO:1903779 | regulation of cardiac conduction |
Gene expression in normal tissue: ATP2A1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ATP2A1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-157118 | Signaling by NOTCH |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1912420 | Pre-NOTCH Processing in Golgi |
| reactome | R-HSA-1912422 | Pre-NOTCH Expression and Processing |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-397014 | Muscle contraction |
| reactome | R-HSA-418346 | Platelet homeostasis |
| reactome | R-HSA-418359 | Reduction of cytosolic Ca++ levels |
| reactome | R-HSA-418360 | Platelet calcium homeostasis |
| reactome | R-HSA-5576891 | Cardiac conduction |
| reactome | R-HSA-5578775 | Ion homeostasis |
| reactome | R-HSA-936837 | Ion transport by P-type ATPases |
| reactome | R-HSA-983712 | Ion channel transport |
| biocarta | nfatpathway | nfat and hypertrophy of the heart |
| pharmgkb | PA152241951 | Celecoxib Pathway, Pharmacodynamics |
| pharmgkb | PA2033 | Antiarrhythmic Pathway, Pharmacodynamics |
| kegg | hsa04020 | Calcium signaling pathway - Homo sapiens (human) |
| kegg | hsa04022 | cGMP-PKG signaling pathway - Homo sapiens (human) |
| kegg | hsa04972 | Pancreatic secretion - Homo sapiens (human) |
| kegg | hsa05010 | Alzheimer,s disease - Homo sapiens (human) |
| wikipathways | WP2059 | Alzheimers Disease |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ATP2A1
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.