Aliases for ATP2A1 Gene
Aliases for ATP2A1 Gene
- ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1 2 3 5
- Calcium Pump 1 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
- Sarcoplasmic/Endoplasmic Reticulum Calcium ATPase 1 2 3
- Endoplasmic Reticulum Class 1/2 Ca(2+) ATPase 3 4
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
- GC16P026757
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 Pseudomyotonia. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and DAG and IP3 signaling. 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 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. Contributes to calcium sequestration involved in muscular excitation/contraction.
-
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
- Monarch Initiative
- Search for ATP2A1 at DataMed
- Search for ATP2A1 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP2A1 Gene
Genomics for ATP2A1 Gene
GeneHancer (GH) Regulatory Elements for ATP2A1 Gene
Promoters and enhancers for ATP2A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ATP2A1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ATP2A1 gene promoter:
-
- GATA-3
- COMP1
- MyoD
- NF-1/L
- NF-1
- YY1
- Tal-1beta
- E47
- p53
- ZID
Regulatory Element Products
Genomic Locations for ATP2A1 Gene
Genomic Locations for ATP2A1 Gene
- chr16:28,878,405-28,904,509
- (GRCh38/hg38)
- Size:
- 26,105 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 Entrez Gene
- 16p11.2 by HGNC
- 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
Post-translational modifications for ATP2A1 Gene
Other Protein References for ATP2A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for ATP2A1
- Novus Biologicals Antibodies for ATP2A1
- Invitrogen Antibodies for ATP2A1
- GeneTex ATP2A1 Antibody for ATP2A1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ATP2A1
Protein Products
-
OriGene Purified Proteins for ATP2A1
- Search Origene for MassSpec and Protein Over-expression Lysates for ATP2A1
- Origene Custom Protein Services for ATP2A1
- Search GeneTex for Proteins for ATP2A1
Assay Products
No data available for DME Specific Peptides for ATP2A1 Gene
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for ATP2A1 Gene
Graphical View of Domain Structure for InterPro Entry
O14983UniProtKB/Swiss-Prot:
AT2A1_HUMAN :- Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.
- 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. Contributes to calcium sequestration involved in muscular excitation/contraction.
- UniProtKB/Swiss-Prot CatalyticActivity:
- ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2).
- 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).
- 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.
- 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:0005388 | calcium-transporting ATPase activity | TAS | -- |
| GO:0005509 | calcium ion binding | IMP | 9405806 |
| GO:0005515 | protein binding | IPI | 9295312 |
| GO:0005524 | ATP binding | IEA | -- |
| GO:0008553 | proton-exporting ATPase activity, phosphorylative mechanism | IBA | -- |
Phenotypes for ATP2A1 Gene
- MGI mutant phenotypes for ATP2A1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for ATP2A1:
-
- Decreased DCP1a protein expression and assembly in processing bodies after arsenite stimulation
- Decreased viability
- no effect
- Increased gamma-H2AX phosphorylation
- Decreased homologous recombination repair frequency
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased NF-kappaB reporter expression
- shRNA abundance <= 50%
- Increased viability
- Increased transferrin (TF) endocytosis
- 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
- Cyagen custom Knockout/knockin (KOKI) mouse models for ATP2A1
-
CRISPR Products
-
OriGene CRISPR knockouts for ATP2A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP2A1
- genomics-online: gRNA clones - Search results for available ATP2A1 gene related products
- Applied Biological Materials CRISPR for ATP2A1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP2A1
- GenScript: Design CRISPR guide RNA sequences for ATP2A1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for ATP2A1
- Browse OriGene Inhibitory RNA Products For ATP2A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2A1
- genomics-online: shRNA clones - Search results for available ATP2A1 gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for ATP2A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ATP2A1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP2A1
- genomics-online: cdna clones - Search results for available ATP2A1 gene related products
- orf clones - Search results for available ATP2A1 gene related products
- Applied Biological Materials Clones for ATP2A1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 |
| cytosol | 2 |
| cytoskeleton | 1 |
- Endoplasmic reticulum (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA,NAS | 9405806 |
Pathways & Interactions for ATP2A1 Gene
Pathways by source for ATP2A1 Gene
1 BioSystems pathway for ATP2A1 Gene
14 Reactome pathways for ATP2A1 Gene
3 PharmGKB pathways for ATP2A1 Gene
4 KEGG pathways for ATP2A1 Gene
1 GeneGo (Thomson Reuters) pathway for ATP2A1 Gene
4 Qiagen pathways for ATP2A1 Gene
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 | -- |
| 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 |
|---|---|---|---|---|---|---|
| calcium | Approved | Nutra | 0 | |||
| Magnesium | Approved | Nutra | 0 | |||
| Disulfiram | Approved | Pharma | Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities | 41 | ||
| (6AR,11AS,11BR)-10-ACETYL-9-HYDROXY-7,7-DIMETHYL-2,6,6A,7,11A,11B-HEXAHYDRO-11H-PYRROLO[1',2':2,3]ISOINDOLO[4,5,6-CD]INDOL-11-ONE | Experimental | Pharma | Target | 0 | ||
| 2,5-DI-(TERT-BUTYL)-1,4,BENZOHYDROQUINONE | Experimental | Pharma | Target | 0 |
| 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 |
(18) ApexBio Compounds for ATP2A1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| 20-HETE | Vasoconstrictor in renal and cerebral vasculature | 79551-86-3 |
| 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 :
- (16) Additional mRNA sequences :
- (186) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000357084 3532 bps (uc002dro.2)
- ENST00000395503 3536 bps (uc002drn.1)
- ENST00000536376 3130 bps (uc002drp.3)
- ENST00000562185 576 bps (uc059sqg.1)
- ENST00000563975 545 bps (uc059sqd.1)
Unigene Clusters for ATP2A1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ATP2A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP2A1
- genomics-online: gRNA clones - Search results for available ATP2A1 gene related products
- Applied Biological Materials CRISPR for ATP2A1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP2A1
- GenScript: Design CRISPR guide RNA sequences for ATP2A1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for ATP2A1
- Browse OriGene Inhibitory RNA Products For ATP2A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2A1
- genomics-online: shRNA clones - Search results for available ATP2A1 gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for ATP2A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ATP2A1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP2A1
- genomics-online: cdna clones - Search results for available ATP2A1 gene related products
- orf clones - Search results for available ATP2A1 gene related products
- Applied Biological Materials Clones for ATP2A1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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 | ^ |
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| SP13: | - | - |
| ExUns: | 18a | · | 18b | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22a | · | 22b | ^ | 23 | ^ | 24a | · | 24b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP13: |
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
NURSA nuclear receptor signaling pathways regulating expression of ATP2A1 Gene:
ATP2A1SOURCE 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(2.2)
- Stomach(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
- genomics-online: primer clones - Search results for available ATP2A1 gene related products
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 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ATP2A1 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ATP2A1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ATP2A1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Atp2a1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Atp2a1 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ATP2A1 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ATP2A1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | atp2a1 33 |
|
||
| Str.6567 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | ca-p60a-prov 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | atp2a1l 34 |
|
OneToMany | |
| atp2a1 34 33 |
|
OneToMany | |||
| zgc55380 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1095 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Ca-P60A 34 35 33 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | ATC1_ANOGA 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | sca-1 34 33 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PMR1 34 |
|
OneToMany | |
| ENA5 36 |
|
|
|||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | ECA3 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os03g0730800 33 |
|
||
| corn (Zea mays) |
Liliopsida | Zm.509 33 |
|
||
| barley (Hordeum vulgare) |
Liliopsida | Hv.4294 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10300 34 |
|
ManyToMany | |
| bread mold (Neurospora crassa) |
Ascomycetes | NCU03305 33 |
|
- Species where no ortholog for ATP2A1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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
| SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs10499 | benign, not specified, Brody myopathy | 28,904,206(+) | G/A | 3_prime_UTR_variant | |
| rs113803159 | conflicting-interpretations-of-pathogenicity, benign, not specified, Brody myopathy | 28,887,457(+) | C/G | coding_sequence_variant, synonymous_variant | |
| rs114173613 | likely-benign, Brody myopathy | 28,904,503(+) | C/T | 3_prime_UTR_variant | |
| rs114675305 | benign, Brody myopathy | 28,898,306(+) | C/T | coding_sequence_variant, missense_variant | |
| rs117350233 | uncertain-significance, not specified, Brody myopathy | 28,894,527(+) | C/T | coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv571805 | CNV | loss | 21841781 |
| nsv519100 | CNV | gain | 19592680 |
| nsv518648 | CNV | loss | 19592680 |
| nsv1059555 | CNV | gain | 25217958 |
| esv3892826 | CNV | gain+loss | 25118596 |
| esv3638350 | CNV | loss | 21293372 |
| esv3638349 | CNV | gain | 21293372 |
| esv3570454 | CNV | gain | 25503493 |
| esv2758640 | CNV | gain+loss | 17122850 |
| esv2674005 | CNV | deletion | 23128226 |
| dgv4987n54 | CNV | gain | 21841781 |
| dgv2831n100 | CNV | gain | 25217958 |
| dgv2830n100 | CNV | gain | 25217958 |
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
(7) MalaCards diseases for ATP2A1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| brody myopathy |
|
|
| pseudomyotonia |
|
|
| myopathy, tubular aggregate, 1 |
|
|
| wolfram syndrome 2 |
|
|
| myotonic disease |
|
|
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
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 22 58
- 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 22 58
- 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 44 58
- Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1. (PMID: 17728322) Hino S … Imaizumi K (Human molecular genetics 2007) 3 22 58
- 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 22 58
Products for ATP2A1 Gene
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Sources for ATP2A1 Gene
- (1) GeneCards
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