Human Gene ATP2A3 (ENST00000397041.8_8) from GENCODE V47lift37
  Description: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3, transcript variant 1 (from RefSeq NM_005173.4)
Gencode Transcript: ENST00000397041.8_8
Gencode Gene: ENSG00000074370.19_11
Transcript (Including UTRs)
   Position: hg19 chr17:3,827,167-3,867,731 Size: 40,565 Total Exon Count: 21 Strand: -
Coding Region
   Position: hg19 chr17:3,828,716-3,867,585 Size: 38,870 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:3,827,167-3,867,731)mRNA (may differ from genome)Protein (999 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AT2A3_HUMAN
DESCRIPTION: RecName: Full=Sarcoplasmic/endoplasmic reticulum calcium ATPase 3; Short=SERCA3; Short=SR Ca(2+)-ATPase 3; EC=3.6.3.8; AltName: Full=Calcium pump 3;
FUNCTION: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium. Transports calcium ions from the cytosol into the sarcoplasmic/endoplasmic 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).
SUBCELLULAR LOCATION: Nucleus membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Sarcoplasmic reticulum membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Found in most tissues. Most abundant in thymus, trachea, salivary gland, spleen, bone marrow, lymph node, peripheral leukocytes, pancreas and colon. Also detected in fetal tissues. Expressed in cell lineages of hematopoietic, epithelial, or embryonic origin and also expressed in several cancer cell lines.
SIMILARITY: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ATP2A3
Diseases sorted by gene-association score: darier disease (16), brody myopathy (8)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 87.64 RPKM in Spleen
Total median expression: 663.02 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -80.90146-0.554 Picture PostScript Text
3' UTR -654.901549-0.423 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR023306 - ATPase_cation_domN
IPR008250 - ATPase_P-typ_ATPase-assoc-dom
IPR005782 - ATPase_P-typ_Ca-transp
IPR006068 - ATPase_P-typ_cation-transptr_C
IPR004014 - ATPase_P-typ_cation-transptr_N
IPR023300 - ATPase_P-typ_cyto_domA
IPR023299 - ATPase_P-typ_cyto_domN
IPR000695 - ATPase_P-typ_H-transp
IPR001757 - ATPase_P-typ_ion-transptr
IPR018303 - ATPase_P-typ_P_site
IPR023298 - ATPase_P-typ_TM_dom
IPR005834 - Dehalogen-like_hydro
IPR023214 - HAD-like_dom

Pfam Domains:
PF00122 - E1-E2 ATPase
PF00689 - Cation transporting ATPase, C-terminus
PF00690 - Cation transporter/ATPase, N-terminus
PF00702 - haloacid dehalogenase-like hydrolase
PF08282 - haloacid dehalogenase-like hydrolase
PF13246 - Cation transport ATPase (P-type)

SCOP Domains:
81653 - Calcium ATPase, transduction domain A
56784 - HAD-like
81660 - Metal cation-transporting ATPase, ATP-binding domain N
81665 - Calcium ATPase, transmembrane domain M

ModBase Predicted Comparative 3D Structure on Q93084
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005388 calcium-transporting ATPase activity
GO:0005524 ATP binding
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0034220 ion transmembrane transport
GO:0070588 calcium ion transmembrane transport
GO:0099132 ATP hydrolysis coupled cation transmembrane transport
GO:1903779 regulation of cardiac conduction

Cellular Component:
GO:0005634 nucleus
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016529 sarcoplasmic reticulum
GO:0031095 platelet dense tubular network membrane
GO:0031965 nuclear membrane
GO:0033017 sarcoplasmic reticulum membrane


-  Descriptions from all associated GenBank mRNAs
  AF068221 - Homo sapiens sarco-/endoplasmic reticulum Ca-ATPase 3 (ATP2A3) mRNA, alternatively spliced, partial cds.
Z69881 - H.sapiens mRNA for adenosine triphosphatase, calcium.
JD136019 - Sequence 117043 from Patent EP1572962.
JD339878 - Sequence 320902 from Patent EP1572962.
JD471730 - Sequence 452754 from Patent EP1572962.
JD266245 - Sequence 247269 from Patent EP1572962.
JD390310 - Sequence 371334 from Patent EP1572962.
JD390309 - Sequence 371333 from Patent EP1572962.
JD548625 - Sequence 529649 from Patent EP1572962.
JD410728 - Sequence 391752 from Patent EP1572962.
AK292716 - Homo sapiens cDNA FLJ77199 complete cds, highly similar to Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 6, mRNA.
BC035729 - Homo sapiens ATPase, Ca++ transporting, ubiquitous, mRNA (cDNA clone MGC:46161 IMAGE:5723849), complete cds.
JD134013 - Sequence 115037 from Patent EP1572962.
JD057016 - Sequence 38040 from Patent EP1572962.
JD227166 - Sequence 208190 from Patent EP1572962.
JD248028 - Sequence 229052 from Patent EP1572962.
JD465876 - Sequence 446900 from Patent EP1572962.
JD485478 - Sequence 466502 from Patent EP1572962.
JD535833 - Sequence 516857 from Patent EP1572962.
JD388100 - Sequence 369124 from Patent EP1572962.
JD388099 - Sequence 369123 from Patent EP1572962.
JD312653 - Sequence 293677 from Patent EP1572962.
JD315007 - Sequence 296031 from Patent EP1572962.
JD473194 - Sequence 454218 from Patent EP1572962.
JD386759 - Sequence 367783 from Patent EP1572962.
AF458228 - Homo sapiens sarco/endoplasmic reticulum Ca2+ ATPase isoform 3d (ATP2A3) mRNA, partial cds.
AF458229 - Homo sapiens sarco/endoplasmic reticulum Ca2+ ATPase isoform 3e (ATP2A3) mRNA, partial cds.
JD123341 - Sequence 104365 from Patent EP1572962.
AF068220 - Homo sapiens sarco-/endoplasmic reticulum Ca-ATPase 3 (ATP2A3) mRNA, alternatively spliced, complete cds.
AY460339 - Homo sapiens sarco/endoplasmic reticulum Ca2+ ATPase isoform 3f (ATP2A3) mRNA, partial cds, alternatively spliced.
DQ893317 - Synthetic construct clone IMAGE:100005947; FLH196114.01X; RZPDo839D08154D ATPase, Ca++ transporting, ubiquitous (ATP2A3) gene, encodes complete protein.
EU176809 - Synthetic construct Homo sapiens clone IMAGE:100011557; FLH196113.01L; RZPDo839D07256D ATPase, Ca++ transporting, ubiquitous (ATP2A3) gene, encodes complete protein.
AB462957 - Synthetic construct DNA, clone: pF1KB3408, Homo sapiens ATP2A3 gene for ATPase, Ca++ transporting, ubiquitous, without stop codon, in Flexi system.
S68239 - SERCA3=sarco/endoplasmic reticulum Ca(2+)-ATPase 3-type Ca2+ pump [human, lymphoblastoid Jurkat cells, mRNA Partial, 169 nt].

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q93084 (Reactome details) participates in the following event(s):

R-HSA-427910 ATP2A1-3 transport Ca2+ from cytosol to ER lumen
R-HSA-418365 ATP2A1-3 transport cytosolic Ca2+ to dense tubular network lumen
R-HSA-936837 Ion transport by P-type ATPases
R-HSA-5578775 Ion homeostasis
R-HSA-418359 Reduction of cytosolic Ca++ levels
R-HSA-983712 Ion channel transport
R-HSA-5576891 Cardiac conduction
R-HSA-418360 Platelet calcium homeostasis
R-HSA-382551 Transport of small molecules
R-HSA-397014 Muscle contraction
R-HSA-418346 Platelet homeostasis
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: A8MZG0, AT2A3_HUMAN, ATP2A3 , D3DTJ8, ENST00000397041.1, ENST00000397041.2, ENST00000397041.3, ENST00000397041.4, ENST00000397041.5, ENST00000397041.6, ENST00000397041.7, NM_005173, O60900, O60901, O75501, O75502, Q16115, Q6JHX1, Q8TEX5, Q8TEX6, Q93084, uc318yrl.1, uc318yrl.2
UCSC ID: ENST00000397041.8_8
RefSeq Accession: NM_005173.4
Protein: Q93084 (aka AT2A3_HUMAN or ATA3_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.