ATP2A1 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1)

2003-06-01  

Identity

HGNC
ATP2A1
LOCATION
16p11.2
LOCUSID
487
ALIAS
ATP2A,SERCA1

Other Information

Locus ID:

NCBI: 487
MIM: 108730
HGNC: 811
Ensembl: ENSG00000196296

Variants:

dbSNP: 487
ClinVar: 487
TCGA: ENSG00000196296
COSMIC: ATP2A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196296ENST00000357084O14983
ENSG00000196296ENST00000395503O14983
ENSG00000196296ENST00000536376O14983
ENSG00000196296ENST00000562185H3BUU3
ENSG00000196296ENST00000563975H3BVB2
ENSG00000196296ENST00000564112H3BUT9
ENSG00000196296ENST00000564470H3BTF1
ENSG00000196296ENST00000564732H3BTW4

Expression (GTEx)

0
500
1000
1500
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Calcium signaling pathwayKEGGko04020
Alzheimer's diseaseKEGGko05010
Calcium signaling pathwayKEGGhsa04020
Alzheimer's diseaseKEGGhsa05010
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
HemostasisREACTOMER-HSA-109582
Platelet homeostasisREACTOMER-HSA-418346
Platelet calcium homeostasisREACTOMER-HSA-418360
Reduction of cytosolic Ca++ levelsREACTOMER-HSA-418359
Signal TransductionREACTOMER-HSA-162582
Signaling by NOTCHREACTOMER-HSA-157118
Pre-NOTCH Expression and ProcessingREACTOMER-HSA-1912422
Pre-NOTCH Processing in GolgiREACTOMER-HSA-1912420
Muscle contractionREACTOMER-HSA-397014
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ion transport by P-type ATPasesREACTOMER-HSA-936837
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA448871celecoxibChemicalPathwayassociated22336956

References

Pubmed IDYearTitleCitations
159727232005Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.91
215764922011Structural topology of phospholamban pentamer in lipid bilayers by a hybrid solution and solid-state NMR method.77
125256982003Modeling of the inhibitory interaction of phospholamban with the Ca2+ ATPase.65
190616392008Role of SERCA1 truncated isoform in the proapoptotic calcium transfer from ER to mitochondria during ER stress.63
177283222007Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1.45
126923022003Sarcolipin regulates sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA) by binding to transmembrane helices alone or in association with phospholamban.44
129753742003Dissection of the functional differences between sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA) 1 and 2 isoforms and characterization of Darier disease (SERCA2) mutants by steady-state and transient kinetic analyses.34
161922782005Functional comparison between secretory pathway Ca2+/Mn2+-ATPase (SPCA) 1 and sarcoplasmic reticulum Ca2+-ATPase (SERCA) 1 isoforms by steady-state and transient kinetic analyses.20
164102392006The effects of the phenylalanine 256 to valine mutation on the sensitivity of sarcoplasmic/endoplasmic reticulum Ca2+ ATPase (SERCA) Ca2+ pump isoforms 1, 2, and 3 to thapsigargin and other inhibitors.20
167547982006Relevance of brain natriuretic peptide in preload-dependent regulation of cardiac sarcoplasmic reticulum Ca2+ ATPase expression.15

Citation

Dessen P

ATP2A1 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/722/atp2a1-(atpase-sarcoplasmic-endoplasmic-reticulum-ca2+-transporting-1)