Human Gene ATP2B3 (ENST00000349466.6)
  Description: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell. (from UniProt Q16720)
RefSeq Summary (NM_001001344): The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000349466.6
Gencode Gene: ENSG00000067842.17
Transcript (Including UTRs)
   Position: hg38 chrX:153,517,676-153,580,589 Size: 62,914 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg38 chrX:153,536,248-153,580,298 Size: 44,051 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:153,517,676-153,580,589)mRNA (may differ from genome)Protein (1220 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCHPRD
LynxMGIneXtProtPubMedReactomeUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: AT2B3_HUMAN
DESCRIPTION: RecName: Full=Plasma membrane calcium-transporting ATPase 3; Short=PMCA3; EC=3.6.3.8; AltName: Full=Plasma membrane calcium ATPase isoform 3; AltName: Full=Plasma membrane calcium pump isoform 3;
FUNCTION: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell.
CATALYTIC ACTIVITY: ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2).
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Isoform XE and isoform XB are the most abundant isoforms and are detected at low levels in brain and fetal skeletal muscle. The other isoforms are only found at lower levels and not in fetal tissues.
SIMILARITY: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily.

-  MalaCards Disease Associations
  MalaCards Gene Search: ATP2B3
Diseases sorted by gene-association score: spinocerebellar ataxia, x-linked 1* (890), spinocerebellar ataxia, x-linked 5* (350), microcephaly* (151), alacrima, achalasia, and mental retardation syndrome* (82), intellectual disability* (71), cerebellar ataxia (14), sialolithiasis (11), striatonigral degeneration (9), detrusor sphincter dyssynergia (8), cerebellar disease (7), olivopontocerebellar atrophy (7), kluver-bucy syndrome (7), adrenal adenoma (7), multiple cranial nerve palsy (7), ideomotor apraxia (6), ataxia (5), glossopharyngeal nerve disease (5)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.28 RPKM in Brain - Cerebellum
Total median expression: 93.09 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 -154.10326-0.473 Picture PostScript Text
3' UTR -75.10291-0.258 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
IPR022141 - ATP_Ca_trans_C
IPR023306 - ATPase_cation_domN
IPR008250 - ATPase_P-typ_ATPase-assoc-dom
IPR006408 - ATPase_P-typ_Ca-transp_PMCA
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
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:
PF12424 - Plasma membrane calcium transporter ATPase C terminal
PF00689 - Cation transporting ATPase, C-terminus
PF00690 - Cation transporter/ATPase, N-terminus
PF00122 - E1-E2 ATPase
PF00702 - haloacid dehalogenase-like hydrolase

ModBase Predicted Comparative 3D Structure on Q16720
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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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005388 calcium-transporting ATPase activity
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0015085 calcium ion transmembrane transporter activity
GO:0016787 hydrolase activity
GO:0030165 PDZ domain binding
GO:0046872 metal ion binding

Biological Process:
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0034220 ion transmembrane transport
GO:0051480 regulation of cytosolic calcium ion concentration
GO:0070588 calcium ion transmembrane transport
GO:0099132 ATP hydrolysis coupled cation transmembrane transport
GO:1903779 regulation of cardiac conduction
GO:1990034 calcium ion export from cell

Cellular Component:
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle
GO:1903561 extracellular vesicle


-  Descriptions from all associated GenBank mRNAs
  U57971 - Human calcium ATPase isoform 3x/a mRNA, complete cds.
U60414 - Human plasma membrane calcium ATPase isoform 3x/b mRNA, complete cds.
BC130009 - Homo sapiens ATPase, Ca++ transporting, plasma membrane 3, mRNA (cDNA clone MGC:158926 IMAGE:40067815), complete cds.
JD519271 - Sequence 500295 from Patent EP1572962.
JD241351 - Sequence 222375 from Patent EP1572962.
JD380635 - Sequence 361659 from Patent EP1572962.
KJ904423 - Synthetic construct Homo sapiens clone ccsbBroadEn_13817 ATP2B3 gene, encodes complete protein.
AK307765 - Homo sapiens cDNA, FLJ97713.
AK308705 - Homo sapiens cDNA, FLJ98746.
DQ201779 - Homo sapiens PMCA3a (ATP2B3) mRNA, partial cds.
U15689 - Human clone hPMCA3g alternatively spliced plasma membrane calcium pump (ATP2B3) mRNA, partial cds.
U15690 - Human clone hPMCA3a alternatively spliced plasma membrane calcium pump (ATP2B3) mRNA, partial cds.
JD170396 - Sequence 151420 from Patent EP1572962.
JD157851 - Sequence 138875 from Patent EP1572962.
JD133377 - Sequence 114401 from Patent EP1572962.
JD363798 - Sequence 344822 from Patent EP1572962.
JD141474 - Sequence 122498 from Patent EP1572962.
JD404581 - Sequence 385605 from Patent EP1572962.
JD046523 - Sequence 27547 from Patent EP1572962.
JD051300 - Sequence 32324 from Patent EP1572962.
JD100321 - Sequence 81345 from Patent EP1572962.
JD056965 - Sequence 37989 from Patent EP1572962.
JD097346 - Sequence 78370 from Patent EP1572962.
JD363764 - Sequence 344788 from Patent EP1572962.
JD377848 - Sequence 358872 from Patent EP1572962.
JD342748 - Sequence 323772 from Patent EP1572962.
JD120642 - Sequence 101666 from Patent EP1572962.
JD532816 - Sequence 513840 from Patent EP1572962.
JD339046 - Sequence 320070 from Patent EP1572962.
JD343229 - Sequence 324253 from Patent EP1572962.
JD471378 - Sequence 452402 from Patent EP1572962.
JD339985 - Sequence 321009 from Patent EP1572962.
JD471159 - Sequence 452183 from Patent EP1572962.
JD065599 - Sequence 46623 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04020 - Calcium signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q16720 (Reactome details) participates in the following event(s):

R-HSA-418309 ATP2B1-4 transport cytosolic Ca2+ to extracellular region
R-HSA-418359 Reduction of cytosolic Ca++ levels
R-HSA-936837 Ion transport by P-type ATPases
R-HSA-5578775 Ion homeostasis
R-HSA-418360 Platelet calcium homeostasis
R-HSA-983712 Ion channel transport
R-HSA-5576891 Cardiac conduction
R-HSA-418346 Platelet homeostasis
R-HSA-382551 Transport of small molecules
R-HSA-397014 Muscle contraction
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: AT2B3_HUMAN, B7WNR8, B7WNY5, ENST00000349466.1, ENST00000349466.2, ENST00000349466.3, ENST00000349466.4, ENST00000349466.5, Q12995, Q16720, Q16858, U60414, uc065btp.1
UCSC ID: ENST00000349466.6
RefSeq Accession: NM_001001344
Protein: Q16720 (aka AT2B3_HUMAN or ATB3_HUMAN)
CCDS: CCDS35440.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ATP2B3:
ataxias (Hereditary Ataxia Overview)

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