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 |
|---|---|---|---|---|---|
OMIM IDMIM:108730 Ensembl IDEnsembl:ENSG00000196296 HGNC IDHGNC:HGNC:811 PHARMGKB IDPA25105 Map Location16p11.2 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ATP2A1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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.