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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 ... See more...
Aliases for ATP2A1 Gene
Aliases for ATP2A1 Gene
- ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1 2 3 5
- Sarcoplasmic/Endoplasmic Reticulum Calcium ATPase 1 2 3 4
- Calcium Pump 1 2 3 4
- SERCA1 2 3 4
- Calcium-Transporting ATPase Sarcoplasmic Reticulum Type, Fast Twitch Skeletal Muscle Isoform 3 4
- ATPase, Ca++ Transporting, Cardiac Muscle, Fast Twitch 1 2 3
External Ids for ATP2A1 Gene
- HGNC: 811
- Entrez Gene: 487
- Ensembl: ENSG00000196296
- OMIM: 108730
- UniProtKB: O14983
Previous HGNC Symbols for ATP2A1 Gene
- ATP2A
Previous GeneCards Identifiers for ATP2A1 Gene
- GC16U990002
- GC16P029213
- GC16P028888
- GC16P028927
- GC16P028798
- GC16P028889
- GC16P026757
- GC16P028891
Summaries for ATP2A1 Gene
-
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]
GeneCards Summary for ATP2A1 Gene
ATP2A1 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1) is a Protein Coding gene. Diseases associated with ATP2A1 include Brody Myopathy and Atrophic Muscular Disease. Among its related pathways are Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include calcium ion binding and nucleotide binding. An important paralog of this gene is ATP2A2.
UniProtKB/Swiss-Prot Summary for ATP2A1 Gene
-
Key regulator of striated muscle performance by acting as the major Ca(2+) ATPase responsible for the reuptake of cytosolic Ca(2+) into the sarcoplasmic reticulum. Catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen (By similarity). Contributes to calcium sequestration involved in muscular excitation/contraction (PubMed:10914677).
-
Ca2+-ATPases function to maintain a low cytoplasmic concentration of Ca2+ ions. They are high affinity, low capacitance transporters and complement the actions of the low affinity, high capacitance Na+/Ca2+ exchanger. Ca2+-ATPases are P-type ATPases.
Additional gene information for ATP2A1 Gene
- HGNC(811)
- Entrez Gene(487)
- Ensembl(ENSG00000196296)
- OMIM(108730)
- UniProtKB(O14983)
- Open Targets Platform(ENSG00000196296)
- Monarch Initiative
- Search for ATP2A1 at DataMed
- Search for ATP2A1 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP2A1 Gene
Genomics for ATP2A1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ATP2A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ATP2A1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP2A1
- Top Transcription factor binding sites by QIAGEN in the ATP2A1 gene promoter:
-
- COMP1
- E47
- GATA-3
- MyoD
- NF-1
- NF-1/L
- p53
- Tal-1beta
- YY1
- ZID
Genomic Locations for ATP2A1 Gene
Genomic Locations for ATP2A1 Gene
- chr16:28,878,405-28,904,511
- (GRCh38/hg38)
- Size:
- 26,107 bases
- Orientation:
- Plus strand
- chr16:28,889,726-28,915,830
- (GRCh37/hg19)
- Size:
- 26,105 bases
- Orientation:
- Plus strand
Genomic View for ATP2A1 Gene
Genes around ATP2A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p11.2 by HGNC
- 16p11.2 by Entrez Gene
- 16p11.2 by Ensembl
ATP2A1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ATP2A1 Gene
Proteins for ATP2A1 Gene
-
Protein details for ATP2A1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O14983-AT2A1_HUMAN
- Recommended name:
- Sarcoplasmic/endoplasmic reticulum calcium ATPase 1
- Protein Accession:
- O14983
- A8K5J9
- B3KY17
- O14984
Protein attributes for ATP2A1 Gene
- Size:
- 1001 amino acids
- Molecular mass:
- 110252 Da
- Quaternary structure:
-
- Interacts with sarcolipin (SLN) (By similarity). Interacts with phospholamban (PLN) (By similarity). Interacts with myoregulin (MRLN). Interacts with DWORF (By similarity).
Protein Expression for ATP2A1 Gene
Selected DME Specific Peptides for ATP2A1 Gene
- O14983:
-
- NSLSENQSL
- TTCLALGT
- DPVHGGSW
- VPGDIVE
- TEIGKIRD
- DDNFSTI
- ERANACNSVI
- PDPRAVNQDKKN
- VQLLWVN
- AICRRIG
- STTLRVDQSILTGES
- DKTGTLTTN
- MITGDNKGTA
- RMPPWVNIWL
- IMITGDN
- VLKISLPVI
- LEFSRDRK
- AFVEPFVI
- GDGVNDAP
- TGDNKGTA
- LVRILLLAA
- TPLQQKLDEF
- RVEPSHK
- EGRAIYNN
- KLDEFGEQLSKVISLIC
- TMALSVLVTIEMCNALNS
- DGLVELATICALCNDS
- LSMSLHF
- CFARVEP
- VGDKVPAD
- INIGHFNDP
- GWLFFRY
- TGSTYAP
- HKSKIVE
- SFVLAWFEEGEET
- ISSNVGEV
- VGMLDPPR
- CRDAGIRV
- YVGAATVG
- AIPEGLP
- VARNYLE
- EKVGEATETAL
- DQSILTGESVSVIKHT
- LWVNLVTDGLPA
- DKTGTLT
- LVEKMNVF
- EPFVILLIL
- EQFEDLLVRILL
- AIEALKEYEPEMGKV
- KMFVKGAPE
- DTLRCLALAT
- NELPAEE
- VGVWQERNAE
- EMVLADDNFS
- DRKSVQRIKA
- IFLTAALG
- MTGDGVND
- SENQSLLRMPPW
- SVETLGCT
- IGIAMGSGTAVAK
- FIRYLISSN
- LPSVETLG
Post-translational modifications for ATP2A1 Gene
Other Protein References for ATP2A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ ATP2A1 Antibody
- NSJ Bioreagents SERCA1 ATPase Antibody and ATP2A1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for ATP2A1
- Novus Biologicals Antibodies for ATP2A1
-
Abcam antibodies for ATP2A1
- Invitrogen Antibodies for ATP2A1 (AFLGC-ATP2A1)
-
Santa Cruz Biotechnology (SCBT) Antibodies for ATP2A1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for ATP2A1
- Origene Custom Protein Services for ATP2A1
-
Signalway Proteins for ATP2A1
-
Abcam proteins for ATP2A1
Assay Products
-
Signalway ELISA kits for ATP2A1
Domains & Families for ATP2A1 Gene
Gene Families for ATP2A1 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for ATP2A1 Gene
- InterPro:
- Blocks:
-
- ATPase, E1-E2 type
- Cation transporting ATPase, C-terminal
- E1-E2 ATPase-associated region
- H+-transporting ATPase (proton pump) signature
- ProtoNet:
Suggested Antigen Peptide Sequences for ATP2A1 Gene
- GenScript: Design optimal peptide antigens:
-
- Endoplasmic reticulum class 1/2 Ca(2+) ATPase (AT2A1_HUMAN)
- cDNA FLJ46599 fis, clone THYMU3047115, highly similar to Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 (EC 3.6.3.8) (B3KY17_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O14983UniProtKB/Swiss-Prot:
AT2A1_HUMAN :- Ca(2+) and ATP binding cause major rearrangements of the cytoplasmic and transmembrane domains. According to the E1-E2 model, Ca(2+) binding to the cytosolic domain of the pump in the high-affinity E1 conformation is followed by the ATP-dependent phosphorylation of the active site Asp, giving rise to E1P. A conformational change of the phosphoenzyme gives rise to the low-affinity E2P state that exposes the Ca(2+) ions to the lumenal side and promotes Ca(2+) release. Dephosphorylation of the active site Asp mediates the subsequent return to the E1 conformation.
- Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.
- Domain:
-
- Ca(2+) and ATP binding cause major rearrangements of the cytoplasmic and transmembrane domains. According to the E1-E2 model, Ca(2+) binding to the cytosolic domain of the pump in the high-affinity E1 conformation is followed by the ATP-dependent phosphorylation of the active site Asp, giving rise to E1P. A conformational change of the phosphoenzyme gives rise to the low-affinity E2P state that exposes the Ca(2+) ions to the lumenal side and promotes Ca(2+) release. Dephosphorylation of the active site Asp mediates the subsequent return to the E1 conformation.
- PLN and SLN both have a single transmembrane helix; both occupy a similar binding site on ATP2A1 that is situated between the ATP2A1 transmembrane helices.
- Family:
-
- Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.
Function for ATP2A1 Gene
Molecular function for ATP2A1 Gene
- UniProtKB/Swiss-Prot Function:
- Key regulator of striated muscle performance by acting as the major Ca(2+) ATPase responsible for the reuptake of cytosolic Ca(2+) into the sarcoplasmic reticulum. Catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen (By similarity). Contributes to calcium sequestration involved in muscular excitation/contraction (PubMed:10914677).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate; Xref=Rhea:RHEA:18105, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29108, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=7.2.2.10; Evidence={ECO:0000250|UniProtKB:P04191};.
- UniProtKB/Swiss-Prot Induction:
- Increased contractile activity leads to a decrease in SERCA1 expression, while decreased contractile activity leads to an increase in SERCA1 expression.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Inhibited by sarcolipin (SLN), phospholamban (PLN) and myoregulin (MRLN) (By similarity). Reversibly inhibited by phospholamban (PLN) at low calcium concentrations (By similarity). Dephosphorylated PLN decreases the apparent affinity of the ATPase for calcium. This inhibition is regulated by the phosphorylation of PLN (By similarity). Enhanced by DWORF; DWORF increases activity by displacing sarcolipin (SLN), phospholamban (PLN) and myoregulin (MRLN) (By similarity).
- GENATLAS Biochemistry:
- sarcoplasmic reticulum,ATPase,Ca++ transporting,transciently expressed,mediating the extrusion of CA2+ from internal stores in the endoplasmic reticulum with two alternatively spliced isoforms,SERCA1A expressed in adult muscle and a minor form SERCA1B in neonatal fibers
Enzyme Numbers (IUBMB) for ATP2A1 Gene
Phenotypes From GWAS Catalog for ATP2A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0005388 | calcium-transporting ATPase activity | IEA,IDA | 8729696 |
| GO:0005509 | calcium ion binding | IMP | 9405806 |
| GO:0005515 | protein binding | IPI | 9295312 |
| GO:0005524 | ATP binding | IEA | -- |
Phenotypes for ATP2A1 Gene
- MGI mutant phenotypes for ATP2A1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for ATP2A1:
-
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Decreased viability
- shRNA abundance <= 50%
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Increased gamma-H2AX phosphorylation
- shRNA abundance <= 25%
- Decreased NF-kappaB reporter expression
- Decreased G3BP1 protein expression and assembly in stress granules after arsenite stimulation
- Decreased homologous recombination repair frequency
- Synthetic lethal with vaccinia virus (VACV) infection
Animal Models for ATP2A1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ATP2A1 - Select products 50% OFF >
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-
OriGene CRISPR knockouts for ATP2A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP2A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP2A1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATP2A1
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Clone Products
- Applied Biological Materials (abm): Clones for ATP2A1 - Select products 50% OFF >
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- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP2A1
Cell Line Products
-
Horizon Cell Lines for ATP2A1
No data available for miRNA , Transcription Factor Targets and HOMER Transcription for ATP2A1 Gene
Localization for ATP2A1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ATP2A1 Gene
- Endoplasmic reticulum membrane. Multi-pass membrane protein. Sarcoplasmic reticulum membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| plasma membrane | 4 |
| mitochondrion | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| nucleus | 2 |
| cytosol | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Endoplasmic reticulum (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005623 | cell | IEA | -- |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for ATP2A1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cardiac conduction |
.39
|
|
| 2 | Platelet homeostasis | ||
| 3 | cGMP-PKG signaling pathway | ||
| 4 | Dilated cardiomyopathy (DCM) | ||
| 5 | Pre-NOTCH Expression and Processing | ||
Pathways by source for ATP2A1 Gene
1 BioSystems pathway for ATP2A1 Gene
14 Reactome pathways for ATP2A1 Gene
3 PharmGKB pathways for ATP2A1 Gene
1 GeneGo (Thomson Reuters) pathway for ATP2A1 Gene
- Development Beta-adrenergic receptors signaling via cAMP
4 Qiagen pathways for ATP2A1 Gene
- Beta-Adrenergic Signaling
- Calcium Mediated T-Cell Apoptosis
- Dopamine-DARPP32 Feedback onto cAMP Pathway
- Intracellular Calcium Signaling
1 Cell Signaling Technology pathway for ATP2A1 Gene
Interacting Proteins for ATP2A1 Gene
GPS-Prot Interaction Network for ATP2A1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006811 | ion transport | IEA | -- |
| GO:0006816 | calcium ion transport | IMP | 9405806 |
| GO:0006874 | cellular calcium ion homeostasis | IBA | 21873635 |
| GO:0008637 | apoptotic mitochondrial changes | IMP | 19061639 |
| GO:0031448 | positive regulation of fast-twitch skeletal muscle fiber contraction | IDA | 12479237 |
No data available for SIGNOR curated interactions for ATP2A1 Gene
Drugs & Compounds for ATP2A1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Desflurane | Approved | Pharma | Target, inhibitor | 209 | ||
| Enflurane | Approved, Investigational, Vet_approved | Pharma | Target, inhibitor, stimulator | 2 | ||
| Lithium carbonate | Approved | Pharma | Mood stabilizer; inhibits Na+/K+ ATPase pump activity | 301 | ||
| Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
| Disulfiram | Approved | Pharma | Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities | 49 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(4) Tocris Compounds for ATP2A1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Disulfiram | Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities | 97-77-8 |
| Ochratoxin A | Stimulates SERCA-ATP-dependent Ca2+ pump activity | 303-47-9 |
| Paxilline | SERCA ATPase blocker. Also potent BKCa channel blocker | 57186-25-1 |
| Thapsigargin | Potent inhibitor of SERCA ATPase | 67526-95-8 |
(17) ApexBio Compounds for ATP2A1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| ARL 67156 trisodium salt | ecto-ATPase inhibitor | 1021868-83-6 |
| Ciclopirox ethanolamine | 41621-49-2 | |
| Cyclopiazonic acid | 18172-33-3 | |
| Enterostatin | 117830-79-2 | |
| Glucagon (19-29), human | Potent Ca2+/Mg2+-ATPase inhibitor | 64790-15-4 |
| K 858 | 72926-24-0 | |
| Lithium carbonate | 554-13-2 | |
| ML 240 | 1346527-98-7 | |
| MYK-461 | inhibits adenosine triphosphatase activity | |
| Ochratoxin A | 303-47-9 | |
| Paprotrain | 57046-73-8 | |
| Paxilline | 57186-25-1 | |
| POM 1 | 12141-67-2 | |
| PSB 06126 | 1052089-16-3 | |
| PSB 069 | 78510-31-3 | |
| SCH 28080 | 76081-98-6 | |
| Thapsigargin | 67526-95-8 |
Transcripts for ATP2A1 Gene
mRNA/cDNA for ATP2A1 Gene
- 3 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000357084 3532 nts (view in UCSC)
- ENST00000395503 3493 nts (view in UCSC)
- ENST00000563975 545 nts (view in UCSC)
- ENST00000562185 576 nts (view in UCSC)
- ENST00000536376 3130 nts (view in UCSC)
CRISPR Products
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-
OriGene CRISPR knockouts for ATP2A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP2A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP2A1
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for ATP2A1 - Select products 50% OFF >
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- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP2A1
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | · | 10c | · | 10d | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15a | · | 15b | · | 15c | ^ | 16 | ^ | 17 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - |
| ExUns: | 18a | · | 18b | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22a | · | 22b | ^ | 23 | ^ | 24a | · | 24b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||
| SP2: | |||||||||||||||||||
| SP3: | |||||||||||||||||||
| SP4: | |||||||||||||||||||
| SP5: | |||||||||||||||||||
| SP6: | |||||||||||||||||||
| SP7: | |||||||||||||||||||
| SP8: | - | ||||||||||||||||||
| SP9: | |||||||||||||||||||
| SP10: | |||||||||||||||||||
| SP11: | |||||||||||||||||||
| SP12: | |||||||||||||||||||
| SP13: |
Relevant External Links for ATP2A1 Gene
- GeneLoc Exon Structure for
- ATP2A1
Expression for ATP2A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Atrioventricular Canal Cells Atrioventricular Canal
- Gut Tube (Gastrointestinal Tract)
- Adipose (Muscoskeletal System)
-
Thyroid (Endocrine System)
-
Skeletal Muscle (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for ATP2A1 Gene
This gene is overexpressed in Muscle - Skeletal (x50.9).
This gene is overexpressed in Tonsil (32.0), Nasal epithelium (17.8), and Heart (7.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP2A1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP2A1
SOURCE GeneReport for Unigene cluster for ATP2A1 Gene:
Hs.657344mRNA Expression by UniProt/SwissProt for ATP2A1 Gene:
O14983-AT2A1_HUMAN
Tissue specificity:
Skeletal muscle, fast twitch muscle (type II) fibers.
Evidence on tissue expression from TISSUES for ATP2A1 Gene
- Muscle(4.9)
- Heart(2.7)
- Nervous system(2.6)
- Blood(2.3)
- Liver(2.3)
- Pancreas(2.3)
- Stomach(2.1)
- Kidney(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP2A1 Gene
Germ Layers:
- mesoderm
Systems:
- skeletal muscle
Primer Products
-
OriGene qPCR primer pairs for ATP2A1
Gene Expression Assay Products
No data available for Protein tissue co-expression partners for ATP2A1 Gene
Orthologs for ATP2A1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ATP2A1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ATP2A1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ATP2A1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ATP2A1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Atp2a1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Atp2a1 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ATP2A1 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ATP2A1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atp2a1 30 |
|
||
| Str.6567 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | ca-p60a-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | atp2a1l 31 |
|
OneToMany | |
| atp2a1 30 31 |
|
OneToMany | |||
| zgc55380 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1095 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Ca-P60A 30 31 32 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | ATC1_ANOGA 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | sca-1 30 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PMR1 31 |
|
OneToMany | |
| ENA5 33 |
|
|
|||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ECA3 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os03g0730800 30 |
|
||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.4294 30 |
|
||
| Corn (Zea mays) |
Liliopsida | Zm.509 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10300 31 |
|
ManyToMany | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU03305 30 |
|
- Species where no ortholog for ATP2A1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Beta proteobacteria (Neisseria meningitidis)
- Chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for ATP2A1 Gene
- ENSEMBL:
- Gene Tree for ATP2A1 (if available)
- TreeFam:
- Gene Tree for ATP2A1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ATP2A1: view image
Paralogs for ATP2A1 Gene
Paralogs for ATP2A1 Gene
(7) SIMAP similar genes for ATP2A1 Gene using alignment to 7 proteins:
- AT2A1_HUMAN
- B3KY17_HUMAN
- H3BTF1_HUMAN
- H3BTW4_HUMAN
- H3BUT9_HUMAN
- H3BUU3_HUMAN
- H3BVB2_HUMAN
Variants for ATP2A1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP2A1 Gene
| SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 17805 | Pathogenic: Brody myopathy | 28,882,563(+) | TC/T | FRAMESHIFT_VARIANT | |
| 639338 | Uncertain Significance: Brody myopathy | 28,882,454(+) | C/T | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 640328 | Uncertain Significance: Brody myopathy | 28,900,725(+) | C/T | MISSENSE_VARIANT | |
| 642983 | Uncertain Significance: Brody myopathy | 28,880,990(+) | A/C | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 643663 | Uncertain Significance: Brody myopathy | 28,888,832(+) | G/A | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2830n100 | CNV | gain | 25217958 |
| dgv2831n100 | CNV | gain | 25217958 |
| dgv4987n54 | CNV | gain | 21841781 |
| esv2674005 | CNV | deletion | 23128226 |
| esv2758640 | CNV | gain+loss | 17122850 |
| esv3570454 | CNV | gain | 25503493 |
| esv3638349 | CNV | gain | 21293372 |
| esv3638350 | CNV | loss | 21293372 |
| esv3892826 | CNV | gain+loss | 25118596 |
| nsv1059555 | CNV | gain | 25217958 |
| nsv518648 | CNV | loss | 19592680 |
| nsv519100 | CNV | gain | 19592680 |
| nsv571805 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
3.57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.83;
47.94% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ATP2A1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP2A1 Gene
Disorders for ATP2A1 Gene
(15) MalaCards diseases for ATP2A1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| brody myopathy |
|
|
| atrophic muscular disease |
|
|
| myopathy |
|
|
| myotonic disease |
|
|
| myotonic dystrophy 1 |
|
|
Search ATP2A1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
AT2A1_HUMAN- Brody myopathy (BRM) [MIM:601003]: A disorder of muscle function that is characterized by painless muscle cramping and exercise-induced impairment of muscle relaxation. {ECO:0000269 PubMed:10914677}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for ATP2A1 Gene
myopathy,with impaired skeletal muscle relaxation,Brody disease
Additional Disease Information for ATP2A1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
Publications for ATP2A1 Gene
- The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease. (PMID: 10914677) Odermatt A … MacLennan DH (Human genetics 2000) 3 4 23
- Characterization of cDNA and genomic DNA encoding SERCA1, the Ca(2+)-ATPase of human fast-twitch skeletal muscle sarcoplasmic reticulum, and its elimination as a candidate gene for Brody disease. (PMID: 8825625) Zhang Y … MacLennan DH (Genomics 1995) 3 4 23
- Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. (PMID: 19079260) Thorleifsson G … Stefansson K (Nature genetics 2009) 3 41
- Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1. (PMID: 17728322) Hino S … Imaizumi K (Human molecular genetics 2007) 3 23
- Effect of chronic obstructive pulmonary disease on calcium pump ATPase expression in human diaphragm. (PMID: 15718407) Nguyen T … Levine S (Journal of applied physiology (Bethesda, Md. : 1985) 2005) 3 23
ExternalLinks
Products for ATP2A1 Gene
- Custom Antibody ServicesOriGene Antibodies for ATP2A1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for ATP2A1
- Origene Custom Protein Services for ATP2A1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATP2A1
- Browse OriGene Inhibitory RNA Products For ATP2A1
- OriGene qPCR primer pairs for ATP2A1
- OriGene CRISPR knockouts for ATP2A1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ATP2A1
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for ATP2A1
- Novus Biologicals proteins and lysates for ATP2A1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for ATP2A1
- Abcam proteins for ATP2A1
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- Browse Primary Antibodies
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- Invitrogen Antibodies for ATP2A1 (AFLGC-ATP2A1)
- ApexBio compounds for ATP2A1
- VectorBuilder Custom and pre-made DNA vectors for ATP2A1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for ATP2A1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for ATP2A1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for ATP2A1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for ATP2A1
- antibodies-online: Show 22 available ATP2A1 Antibodies ranked by validation data
- Compare Top ATP2A1 Antibodies
- antibodies-online: Show 11 available ATP2A1 Elisa Kits ranked by validation data
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- Quality Products:
- antibodies-online: Show 9 available ATP2A1 Proteins ranked by validation data
- Compare Top ATP2A1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for ATP2A1
- Search Santa Cruz Biotechnology (SCBT) for ATP2A1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ATP2A1
- Horizon Cell Lines for ATP2A1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP2A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP2A1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ATP2A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2A1
Sources for ATP2A1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB