ATP2B3

General Information

Full gene name:ATPase, Ca++ transporting, plasma membrane 3 Entrez Gene ID:492 Location:Xq28 Synonyms:PMCA3, PMCA3a Type:protein-coding

User SNPs

SNPs given by the user that are near or inside this gene:

SNP	Distance (bp)	Direction
rs3020789	44600	downstream

NCBI Summary

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]

OMIM

OMIM ID:`OMIM ID 300014 `_

NCBI Phenotypes

No phenotypes found linked to this gene.

Gene Ontology

• plasma membrane
• calcium-transporting ATPase activity
• ATP biosynthetic process
• ion transmembrane transport
• calmodulin binding
• ATP binding
• integral to membrane
• blood coagulation
• transmembrane transport
• transport
• metal ion binding

KEGG Pathways

• Salivary secretion
• Pancreatic secretion
• Calcium signaling pathway

GeneRIFs

• Observational study of gene-disease association. (HuGE Navigator) [PMID 19733838]
• role in the intracellular Ca(2+) extrusion of syncytiotrophoblast-like structure originating from the differentiation of cultured trophoblast cells isolated from human term placenta [PMID 12784250]
• Affinity Capture-MS [PMID 21987572]
• Expression of the placental calcium transporter PMCA3 mRNA predicts neonatal whole body bone mineral content [PMID 17336174]
• Affinity Capture-MS [PMID 20811636]

PubMed Articles

Recent articles:

• Lee KA et al. “Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels.” J Biol Chem. 2011 Dec 2;286(48):41530-8. PMID 21987572
• Kim W et al. “Systematic and quantitative assessment of the ubiquitin-modified proteome.” Mol Cell. 2011 Oct 21;44(2):325-40. PMID 21906983
• Giannone RJ et al. “The protein network surrounding the human telomere repeat binding factors TRF1, TRF2, and POT1.” PLoS One. 2010 Aug 25;5(8):e12407. PMID 20811636
• Ribasés M et al. “Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder.” Biol Psychiatry. 2009 Nov 15;66(10):926-34. PMID 19733838
• Barbe L et al. “Toward a confocal subcellular atlas of the human proteome.” Mol Cell Proteomics. 2008 Mar;7(3):499-508. PMID 18029348
• Martin R et al. “Placental calcium transporter (PMCA3) gene expression predicts intrauterine bone mineral accrual.” Bone. 2007 May;40(5):1203-8. PMID 17336174
• Strehler EE et al. “Calcium pumps of plasma membrane and cell interior.” Curr Mol Med. 2004 May;4(3):323-35. PMID 15101689
• Kühlbrandt W et al. “Biology, structure and mechanism of P-type ATPases.” Nat Rev Mol Cell Biol. 2004 Apr;5(4):282-95. PMID 15071553
• Ota T et al. “Complete sequencing and characterization of 21,243 full-length human cDNAs.” Nat Genet. 2004 Jan;36(1):40-5. PMID 14702039
• Moreau R et al. “Expression and role of calcium-ATPase pump and sodium-calcium exchanger in differentiated trophoblasts from human term placenta.” Mol Reprod Dev. 2003 Jul;65(3):283-8. PMID 12784250