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
  • Calcium-Transporting ATPase Sarcoplasmic Reticulum Type, Fast Twitch Skeletal Muscle Isoform 3 4
  • ATPase, Ca++ Transporting, Cardiac Muscle, Fast Twitch 1 2 3
  • Endoplasmic Reticulum Class 1/2 Ca(2+) ATPase 3 4
  • SR Ca(2+)-ATPase 1 3 4
  • SERCA1 3 4
  • EC 7.2.2.10 4
  • EC 3.6.3.8 52
  • EC 3.6.3 52
  • ATP2A 3

External Ids for ATP2A1 Gene

Previous HGNC Symbols for ATP2A1 Gene

  • ATP2A

Previous GeneCards Identifiers for ATP2A1 Gene

  • GC16U990002
  • GC16P029213
  • GC16P028888
  • GC16P028927
  • GC16P028798
  • GC16P028889
  • GC16P026757

Summaries for ATP2A1 Gene

Entrez Gene Summary 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. 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).

Tocris Summary for ATP2A1 Gene

  • 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.

Gene Wiki entry for ATP2A1 Gene

Additional gene information for ATP2A1 Gene

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 for ATP2A1 Gene

Promoters and enhancers for ATP2A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J028874 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -0.5 -492 6.4 ZNF217 NRF1 POLR2G SP1 ZNF639 ZIC2 POLR2A FOS ZNF623 ZBTB26 ATP2A1 TUFM CD19 RABEP2 NFATC2IP CDC37P1 ATP2A1-AS1 lnc-SH2B1-1
GH16J028910 Enhancer 1.1 Ensembl ENCODE dbSUPER 12.1 +32.3 32285 1.3 ZSCAN5C ZNF639 BCL11A ZNF316 NFIC ZBTB17 FOSL1 BATF ZNF335 ZBTB48 TUFM CD19 RABEP2 ATP2A1 NFATC2IP HSALNG0110542 RF00017-2036
GH16J028070 Enhancer 0.8 Ensembl ENCODE 4.2 -807.5 -807532 0.5 CTCF REST ZBTB25 RAD21 TRIM22 ZKSCAN8 SMC3 ZNF654 FOXP1 MIER2 SBK1 ENSG00000246465 XPO6 ATP2A1 piR-53177-018 GSG1L
GH16J028808 Enhancer 0.2 Ensembl 12.6 -69.5 -69504 0.2 piR-35546-002 piR-47374-003 piR-57068-003 ATP2A1 ENSG00000251417
GH16J028809 Enhancer 0.2 Ensembl 12.6 -68.7 -68704 0.2 piR-35546-002 piR-47374-003 piR-57068-003 ATP2A1 ENSG00000251417
- 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 UCSC Golden Path with GeneCards custom track

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
chr16:28,878,405-28,904,509
(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:
ATP2A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP2A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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).

    Alternative splice isoforms for ATP2A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry 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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Blocks:
  • ATPase, E1-E2 type
  • E1-E2 ATPase-associated region
  • Cation transporting ATPase, C-terminal
  • H+-transporting ATPase (proton pump) signature
InterPro:
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

O14983

UniProtKB/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.
genes like me logo Genes that share domains with ATP2A1: view

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=. ;.
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

Gene Ontology (GO) - Molecular Function for ATP2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0008553 proton-exporting ATPase activity, phosphorylative mechanism IBA 21873635
genes like me logo Genes that share ontologies with ATP2A1: view
genes like me logo Genes that share phenotypes with ATP2A1: view

Human Phenotype Ontology for ATP2A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATP2A1 Gene

MGI Knock Outs for ATP2A1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2A1

Clone Products

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP2A1 gene
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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATP2A1 Gene

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 --
genes like me logo Genes that share ontologies with ATP2A1: view

Pathways & Interactions for ATP2A1 Gene

genes like me logo Genes that share pathways with ATP2A1: view

Pathways by source 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

Gene Ontology (GO) - Biological Process for ATP2A1 Gene

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
genes like me logo Genes that share ontologies with ATP2A1: view

No data available for SIGNOR curated interactions for ATP2A1 Gene

Drugs & Compounds for ATP2A1 Gene

(28) Drugs for ATP2A1 Gene - From: DrugBank, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
Lithium carbonate Approved Pharma Mood stabilizer; inhibits Na+/K+ ATPase pump activity 289
Magnesium Approved, Experimental, Investigational Pharma 0
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 46
(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

(1) Additional Compounds for ATP2A1 Gene - From: Novoseek

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
genes like me logo Genes that share compounds with ATP2A1: view

Drug Products

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 :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2A1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP2A1 Gene

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 normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP2A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP2A1 Gene

This gene is overexpressed in Muscle - Skeletal (x50.9).

Protein differential expression in normal tissues from HIPED for ATP2A1 Gene

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.657344

mRNA 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
genes like me logo Genes that share expression patterns with ATP2A1: view

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.

Orthologs for ATP2A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP2A1 31 30
  • 98.17 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP2A1 31
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP2A1 31 30
  • 91.53 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ATP2A1 31 30
  • 91.47 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp2a1 30
  • 90.23 (n)
mouse
(Mus musculus)
Mammalia Atp2a1 17 31 30
  • 89.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ATP2A1 31
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP2A1 31
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp2a1 30
  • 79.99 (n)
Str.6567 30
African clawed frog
(Xenopus laevis)
Amphibia ca-p60a-prov 30
zebrafish
(Danio rerio)
Actinopterygii atp2a1l 31
  • 84 (a)
OneToMany
atp2a1 31 30
  • 77.68 (n)
OneToMany
zgc55380 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1095 30
fruit fly
(Drosophila melanogaster)
Insecta Ca-P60A 31 32 30
  • 70.51 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta ATC1_ANOGA 30
  • 70.18 (n)
worm
(Caenorhabditis elegans)
Secernentea sca-1 31 30
  • 66.94 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMR1 31
  • 31 (a)
OneToMany
ENA5 33
thale cress
(Arabidopsis thaliana)
eudicotyledons ECA3 30
  • 55.67 (n)
rice
(Oryza sativa)
Liliopsida Os03g0730800 30
  • 56.09 (n)
corn
(Zea mays)
Liliopsida Zm.509 30
barley
(Hordeum vulgare)
Liliopsida Hv.4294 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10300 31
  • 60 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU03305 30
  • 59.44 (n)
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

(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
genes like me logo Genes that share paralogs with ATP2A1: view

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

Additional dbSNP identifiers (rs#s) for ATP2A1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ATP2A1 Gene

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

Variation tolerance for ATP2A1 Gene

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

Human Gene Mutation Database (HGMD)
ATP2A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP2A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP2A1 Gene

Disorders for ATP2A1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for ATP2A1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
brody myopathy
  • brody disease
atrophic muscular disease
  • muscular disorders, atrophic
myopathy
  • muscular diseases
myotonic disease
  • myotonic syndrome
myotonic dystrophy 1
  • md1
- elite association - COSMIC cancer census association via MalaCards

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
genes like me logo Genes that share disorders with ATP2A1: view

Publications for ATP2A1 Gene

  1. 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 54
  2. 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 54
  3. 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 54
  4. 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 54
  5. Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1. (PMID: 15972723) Kimura T … Sakoda S (Human molecular genetics 2005) 3 23 54

Products for ATP2A1 Gene

  • Signalway ELISA kits for ATP2A1
  • Signalway Proteins for ATP2A1

Sources for ATP2A1 Gene