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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATP2A1 Gene

protein-coding   GIFtS: 75
GCID: GC16P028889

ATPase, Ca++ Transporting, Cardiac Muscle, Fast Twitch 1


(Previous symbol: ATP2A)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ATPase, Ca++ Transporting, Cardiac Muscle, Fast Twitch 11 2     Calcium-Transporting ATPase Sarcoplasmic Reticulum Type, Fast Twitch
Skeletal Muscle Isoform2 3
Calcium Pump 11 2 3     Endoplasmic Reticulum Class 1/2 Ca(2+) ATPase2 3
SERCA12 3 5     SR Ca(2+)-ATPase 12 3
ATP2A1 2     EC 3.6.3.83 8
Sarcoplasmic/Endoplasmic Reticulum Calcium ATPase 11 2     EC 3.6.38

External Ids:    HGNC: 8111   Entrez Gene: 4872   Ensembl: ENSG000001962967   OMIM: 1087305   UniProtKB: O149833   

Export aliases for ATP2A1 gene to outside databases

Previous GC identifers: GC16U990002 GC16P029213 GC16P028888 GC16P028927 GC16P028798 GC16P026757


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 two transcript
variants encoding different isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for ATP2A1 Gene: 
ATP2A1 (ATPase, Ca++ transporting, cardiac muscle, fast twitch 1) is a protein-coding gene. Diseases associated with ATP2A1 include pseudomyotonia, and brody myopathy, and among its related super-pathways are Parkinson's disease and Platelet calcium homeostasis. GO annotations related to this gene include calcium-transporting ATPase activity and calcium ion binding. An important paralog of this gene is ATP2C1.

UniProtKB/Swiss-Prot: AT2A1_HUMAN, O14983
Function: This magnesium-dependent enzyme 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

summary for ATP2A1 Gene:
Ca2+-ATPases function to maintain a low cytoplasmic conentration of Ca2+ ions. They are high affinity, low
capacitance transporters and compliment the actions of the low affinity, high capacitance Na+/Ca2+
exchanger. Ca2+-ATPases are P-type ATPases and there are two varients; a plasma membrane-bound Ca2+-ATPase
(PMCA) and a sacroplasmic reticulum Ca2+-ATPase (SERCA). PMCA exists as a dimer within the plasma membrane
of a wide variety of cell types and, using the energy released from ATP hydrolysis, transports Ca2+ ions out
of the cell against the concentration gradient. SERCA is located in the sarcoplasmic reticulum (SR) of
muscle cells and transports Ca2+ ions from the cytoplasm into the SR lumen during muscle relaxation. PMCA
transports one Ca2+ ion per ATP molecule hydrolyzed, whilst SERCA can transport two. PMCAs are regulated by
calmodulin and the phospholipid composition of the surrounding plasma membrane. Furthermore, PMCA can be
phosphorylated by PKA, PKC, Src and FAK at specific residues to influence activity. So far, only one human
pathology has been linked to PMCA defects; deafness. However, SERCA defects have been implicated in a wide
array of pathologies including heart failure, sperm motility defects, cataract formation, carcinogenesis,
diabetes, and cardiac hypertension and hypertrophy.

Gene Wiki entry for ATP2A1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP2A1 gene promoter:
         NF-1   NF-1/L   p53   GATA-3   MyoD   Tal-1beta   E47   YY1   COMP1   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP2A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP2A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP2A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p12.1   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p12.1

ATP2A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP2A1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P028889:  view genomic region     (about GC identifiers)

Start:
28,889,726 bp from pter      End:
28,915,830 bp from pter
Size:
26,105 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AT2A1_HUMAN, O14983 (See protein sequence)
Recommended Name: Sarcoplasmic/endoplasmic reticulum calcium ATPase 1  
Size: 1001 amino acids; 110252 Da
Subunit: Associated with sarcolipin (SLN) and phospholamban (PLN) (By similarity)
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Sarcoplasmic reticulum
membrane; Multi-pass membrane protein
Developmental stage: Isoform SERCA1A accounts for more than 99% of SERCA1 isoforms expressed in adult skeletal
muscle, while isoform SERCA1B predominates in neo-natal skeletal muscle
Secondary accessions: A8K5J9 O14984
Alternative splicing: 2 isoforms:  O14983-1   O14983-2   

Explore the universe of human proteins at neXtProt for ATP2A1: NX_O14983

Explore proteomics data for ATP2A1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O14983

  • 4/62 DME Specific Peptides for ATP2A1 (O14983) (see all 62)
     VPGDIVE  DDNFSTI  VQLLWVN  AICRRIG 

    ATP2A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP2A1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_004311.1  NP_775293.1  

    ENSEMBL proteins: 
     ENSP00000349595   ENSP00000378879   ENSP00000458035   ENSP00000457798   ENSP00000443101  
     ENSP00000457357   ENSP00000457148   ENSP00000457793  
    Reactome Protein details: O14983
    Human Recombinant Protein Products for ATP2A1: 
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    Novus Biologicals ATP2A1 Proteins
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    Cloud-Clone Corp. Proteins for ATP2A1 

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005793endoplasmic reticulum-Golgi intermediate compartment ISS--
    GO:0016020membrane ISS--
    GO:0016021integral to membrane NAS9405806
    GO:0016529sarcoplasmic reticulum NAS8841193

    ATP2A1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PATP: ATPases / P-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: SERCA1 
    Ca2+-ATPases

    5/9 InterPro protein domains (see all 9):
     IPR023298 ATPase_P-typ_TM_dom
     IPR023299 ATPase_P-typ_cyto_domN
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR005782 ATPase_P-typ_Ca-transp_IIA
     IPR023214 HAD-like_dom

    Graphical View of Domain Structure for InterPro Entry O14983

    ProtoNet protein and cluster: O14983

    4 Blocks protein domains:
    IPB000695 H+-transporting ATPase (proton pump) signature
    IPB001757 ATPase
    IPB006068 Cation transporting ATPase
    IPB008250 E1-E2 ATPase-associated region


    UniProtKB/Swiss-Prot: AT2A1_HUMAN, O14983
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily


    ATP2A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AT2A1_HUMAN, O14983
    Function: This magnesium-dependent enzyme 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
    Catalytic activity: ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2)
    Enzyme regulation: Reversibly inhibited by phospholamban (PLN) at low calcium concentrations. Dephosphorylated PLN
    decreases the apparent affinity of the ATPase for calcium. This inhibition is regulated by the phosphorylation of
    PLN (By similarity)
    Induction: Increased contractile activity leads to a decrease in SERCA1 expression, while decreased contractile
    activity leads to an increase in SERCA1 expression

         Genatlas biochemistry entry for ATP2A1:
    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): EC 3.6.3.81 2 EC 3.6.32

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005388calcium-transporting ATPase activity IDA1329967
    GO:0005509calcium ion binding ISS--
    GO:0005515protein binding IPI9295312
    GO:0005524ATP binding ISS--
         
    ATP2A1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for ATP2A1:
     Decreased G3BP1 protein expres  Decreased homologous recombina  Increased gamma-H2AX phosphory 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Atp2a1):
     homeostasis/metabolism  mortality/aging  muscle  respiratory system 

    ATP2A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Atp2a1tm1Dhm for ATP2A1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ATP2A1 
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    SwitchGear 3'UTR luciferase reporter plasmidATP2A1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ATP2A1 About   (see all 17)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Alzheimer's disease0.46
    Alzheimers Disease0.44
    2Platelet calcium homeostasis
    Platelet calcium homeostasis0.53
    Reduction of cytosolic Ca++ levels0.53
    3Ion channel transport
    Ion channel transport0.49
    Ion transport by P-type ATPases0.32
    4CREB Pathway
    Intracellular Calcium Signaling0.50
    5SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for ATP2A1
        Development Beta-adrenergic receptors signaling via cAMP

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ATP2A1
        Calcium Mediated T-Cell Apoptosis
    Intracellular Calcium Signaling
    Beta-Adrenergic Signaling
    Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 Cell Signaling Technology (CST) Pathway for ATP2A1
        Translational Control

    1 GeneGo (Thomson Reuters) Pathway for ATP2A1
        Development Beta-adrenergic receptors signaling via cAMP

    2 BioSystems Pathways for ATP2A1
        Alzheimers Disease
    calcium transport I

    5/7        Reactome Pathways for ATP2A1 (see all 7)
        Hemostasis
    Transmembrane transport of small molecules
    Ion channel transport
    Platelet homeostasis
    Ion transport by P-type ATPases

    2 PharmGKB Pathways for ATP2A1
        Antiarrhythmic Pathway, Pharmacodynamics
    Celecoxib Pathway, Pharmacodynamics

    3         Kegg Pathways  (Kegg details for ATP2A1):
        Calcium signaling pathway
    Pancreatic secretion
    Alzheimer's disease


    ATP2A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATP2A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/57 Interacting proteins for ATP2A1 (O149832, 3 ENSP000003495954) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNFRSF1BP203332, 3MINT-49460 I2D: score=2 
    PLNP266783, ENSP000003501324I2D: score=2 STRING: ENSP00000350132
    IRS2Q9Y4H23, ENSP000003650164I2D: score=1 STRING: ENSP00000365016
    SLNO006313, ENSP000003047074I2D: score=2 STRING: ENSP00000304707
    IRS1P355683, ENSP000003048954I2D: score=1 STRING: ENSP00000304895
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process ISS--
    GO:0006812cation transport ----
    GO:0006816calcium ion transport IMP9405806
    GO:0006942regulation of striated muscle contraction IMP9405806
    GO:0007596blood coagulation TAS--

    ATP2A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ATP2A1 for compounds           About GeneDecksing

    EMD Millipore small molecules for ATP2A1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ATP2A1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    ArtemisininAntimalarial; inhibits P-type ATPase (PfATP6) of P.falciparum[63968-64-9]
    BHQInhibitor of SERCA ATPase[88-58-4]
    Ochratoxin AStimulates SERCA-ATP-dependent Ca2+ pump activity[303-47-9]
    Cyclopiazonic acidInhibitor of SERCA ATPase[18172-33-3]
    ThapsigarginPotent inhibitor of SERCA ATPase[67526-95-8]

    2 HMDB Compounds for ATP2A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    MagnesiumMagnesium (see all 2)7439-95-4--

    5 DrugBank Compounds for ATP2A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine-5'-Diphosphate-- 20398-34-9target--17139284 17016423 10592235
    Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate-- --target--17139284 17016423 10592235
    Tetrafluoroaluminate Ion-- --target--17139284 17016423 10592235
    (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-- --target--10592235
    2,5-DI-(TERT-BUTYL)-1,4,BENZOHYDROQUINONE-- --target--10592235

    6 Novoseek inferred chemical compound relationships for ATP2A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 53.2 49 9575189 (5), 19723525 (3), 10025953 (2), 10914677 (2) (see all 20)
    thapsigargin 43 3 14970206 (2)
    atp 31.4 2 10025953 (1), 15909986 (1)
    halothane 23 4 9037193 (3), 10814537 (1)
    triiodothyronine 21.8 3 11725863 (1), 7980406 (1)
    lipid 0 1 12556441 (1)

    Search CenterWatch for drugs/clinical trials and news about ATP2A1 / AT2A1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for ATP2A1 gene (2 alternative transcripts): 
    NM_004320.4  NM_173201.3  

    Unigene Cluster for ATP2A1:

    ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
    Hs.657344  [show with all ESTs]
    Unigene Representative Sequence: BX537784
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000357084 ENST00000395503(uc002drn.1 uc002dro.1 uc002drp.1)
    ENST00000563975 ENST00000562185 ENST00000536376 ENST00000564732(uc010bym.1)
    ENST00000565042 ENST00000564470 ENST00000564112
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK092691.1 AK128456.1 AK291314.1 BC037354.1 BC104452.2 BC104453.2 BX537389.1 BX537784.1 
    BX647365.1 BX647366.1 BX647367.1 BX647368.1 BX648544.1 BX649072.1 EF139859.1 EF139860.1 

    16 DOTS entries:

    DT.317108  DT.100722106  DT.100793777  DT.101984726  DT.100793779  DT.101982511  DT.102843668  DT.102843688 
    DT.102843705  DT.100793782  DT.100812663  DT.120695784  DT.86854683  DT.100733603  DT.102843675  DT.92424851 

    24/186 AceView cDNA sequences (see all 186):

    AK092691 AA213963 BE259475 F24144 F24518 NM_173201 F19529 BX500625 
    BM553136 BC037354 AA321749 F27722 BM786721 CF551844 CA390154 BX500714 
    BX501030 BM698737 AK128456 NM_004320 CF552159 AA346256 BX648544 F33351 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for ATP2A1 (see all 13)    About this scheme

    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:                                                                                                        -                                                   

    ExUns: 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24a · 24b
    SP1:                                                            
    SP2:                                                            
    SP3:                                                            
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for ATP2A1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATP2A1 expression in normal human tissues (normalized intensities)      ATP2A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCCCTTCCC
    ATP2A1 Expression
    About this image


    ATP2A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             skeletal muscle ; myocytes   
             vastus lateralis   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Oral Cavity (Gastrointestinal Tract)
             Tongue   
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot

    See ATP2A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP2A1

    SOURCE GeneReport for Unigene cluster: Hs.657344

    UniProtKB/Swiss-Prot: AT2A1_HUMAN, O14983
    Tissue specificity: Skeletal muscle, fast twitch muscle (type II) fibers

        SABiosciences Expression via Pathway-Focused PCR Array including ATP2A1: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP2A1 gene from 9/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp2a11 , 5 ATPase, Ca++ transporting, cardiac muscle, fast twitch more1, 5 89.6(n)1
    96.68(a)1
      7 (69.04 cM)5
    119371  NM_007504.21  NP_031530.21 
     1264458585 
    lizard
    (Anolis carolinensis)
    Reptilia ATP2A16
    ATPase, Ca++ transporting, cardiac muscle, fast tw...
    89(a)
    1 ↔ 1
    GL343287.1(500894-537447)
    African clawed frog
    (Xenopus laevis)
    Amphibia ca-p60a-prov2 Calcium ATPase at 60A 80.32(n)    BC044063.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc553802 similar to ATPase, Ca++ transporting, cardiac muscle, more 81.14(n)   393940  BC045327.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ca-P60A1 , 3 calcium ion transport
    calcium-transporting ATPase3
    Calcium ATPase at 60A1
    71(a)3
    70.42(n)1
    71.63(a)1
      60A113
    492971  NM_166634.11  NP_726382.11 
    worm
    (Caenorhabditis elegans)
    Secernentea sca-11 Protein SCA-1 66.9(n)
    72.83(a)
      176512  NM_066985.3  NP_499386.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ENA5(YDR038C)4 Protein with similarity to P-type ATPase sodium pumps, more   --   4(530697-527422) 851608  NP_010323.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ECA31 Ca2+-transporting ATPase 55.7(n)
    56.36(a)
      837550  NM_100887.2  NP_563860.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g07308001 hypothetical protein 56.05(n)
    56.72(a)
      4333998  NM_001057698.2  NP_001051163.2 


    ENSEMBL Gene Tree for ATP2A1 (if available)
    TreeFam Gene Tree for ATP2A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP2A1 gene
    ATP2C12  ATP2A32  ATP2A22  ATP2C22  
    7 SIMAP similar genes for ATP2A1 using alignment to 7 protein entries:     AT2A1_HUMAN (see all proteins):
    DKFZp779G2251    DKFZp779O2152    ATP2A2    ATP2A3    ATP2C1    ATP2C2
    DKFZp686I0955

    ATP2A1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/18 SNPs in ATP2A1 are shown (see all 18)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0155884
    Brody myopathy (BRM)4--see VAR_0155882 P L mis40--------
    rs347045771,2
    C--26777417(+) AAAAA-/A/TTTTTT 2 -- int12NA CSA 4
    rs680397881,2
    C--28889120(-) CCCCC-/CTTCCC 2 -- us2k11Minor allele frequency- C:0.00NA 2
    rs680421651,2
    C--28910063(+) TATTA-/AAAAAA 2 -- int10--------
    rs2001280761,2
    --28910966(+) TGCGC-/CCGCCCCC 2 -- int10--------
    rs617064411,2
    C--28910968(+) CGCCC-/G/GCC 
            
    CCCCC
    4 -- int1 cds11NA 2
    rs1864123121,2
    C--28910968(+) CGCCCC/GCCCCC 2 -- int10--------
    rs3734584261,2
    ----28915046(+) CATCT-/TTGAGCC 3 -- ut31 int10--------
    rs782789631,2
    ----26771115(+) AGGCT-/GTAACCTT 4 -- int1 cds10--------
    rs3767556521,2
    ----28899745(+) TTTAA-/AGAGAC 2 -- int10--------

    HapMap Linkage Disequilibrium report for ATP2A1 (28889726 - 28915830 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for ATP2A1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2674005CNV Deletion23128226
    nsv518648CNV Loss19592680
    nsv905700CNV Loss21882294
    nsv905701CNV Loss21882294
    nsv519100CNV Gain19592680
    nsv905702CNV Gain+Loss21882294
    dgv842e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): ATP2A1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 108730   
    OMIM disorders: 601003  
    UniProtKB/Swiss-Prot: AT2A1_HUMAN, O14983
  • Brody myopathy (BRM) [MIM:601003]: A disorder of muscle function that is characterized by painless muscle
    cramping and exercise-induced impairment of muscle relaxation. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 18 diseases for ATP2A1:    About MalaCards
    pseudomyotonia    brody myopathy    myotonic dystrophy type 1    myotonic dystrophy
    batten disease    hypertension    cataract    chronic obstructive pulmonary disease
    myopathy    muscular dystrophy    pneumonia    obesity
    hepatitis b    tuberculosis    thyroiditis    hepatitis
    alzheimer's disease    pancreatitis

    1 disease from the University of Copenhagen DISEASES database for ATP2A1:
    Myopathy

    ATP2A1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ATP2A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myotonic dystrophy 54.4 1 17728322 (1)

    Genatlas disease: ATP2A1
    myopathy,with impaired skeletal muscle relaxation,Brody disease

    Genetic Association Database (GAD): ATP2A1
    Human Genome Epidemiology (HuGE) Navigator: ATP2A1 (2 documents)

    Export disorders for ATP2A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ATP2A1 gene, integrated from 9 sources (see all 103):
    (articles sorted by number of sources associating them with ATP2A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (PubMed id 8825625)1, 2, 9 Zhang Y.... Maclennan D.H. (1995)
    2. The mutation of Pro(789) to Leu reduces the activity of the fast- twitch skeletal muscle sarco(endo)plasmic reticulum Ca(2+) ATPase (SERCA1) and is associated with Brody disease. (PubMed id 10914677)1, 2, 9 Odermatt A.... MacLennan D.H. (2000)
    3. Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. (PubMed id 19079260)1, 4 Thorleifsson G....Stefansson K. (2009)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Mutations of either or both Cys876 and Cys888 residues of sarcoplasmic reticulum Ca2+-ATPase result in a complete loss of Ca2+ transport activity without a loss of Ca2+-dependent ATPase activity. Role of the Cys876-Cys888 disulfide bond. (PubMed id 11438520)1, 2 Daiho T....Suzuki H. (2001)
    6. Sarcolipin regulates the activity of SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+-ATPase. (PubMed id 9575189)1, 9 Odermatt A....MacLennan D.H. (1998)
    7. Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease. (PubMed id 9367679)1, 9 Odermatt A.... Maclennan D.H. (1997)
    8. Sarco(endo)plasmic reticulum Ca2+ ATPases (SERCA1 and -2) in human extraocular muscles. (PubMed id 14638697)1, 9 Kjellgren D....Pedrosa-Domellof F. (2003)
    9. Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1. (PubMed id 17728322)1, 9 Hino S....Imaizumi K. (2007)
    10. Method-related effects of adenovirus-mediated LacZ and SERCA1 gene transfer on contractile behavior of cultured failing human cardiomyocytes. (PubMed id 15767202)1, 9 Weisser-Thomas J....Pieske B. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 487 HGNC: 811 AceView: ATP2A1 Ensembl:ENSG00000196296 euGenes: HUgn487
    ECgene: ATP2A1 Kegg: 487 H-InvDB: ATP2A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATP2A1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ATP2A1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATP2A1 gene:
    Search GeneIP for patents involving ATP2A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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