ATP2B1

protein-coding gene in the species Homo sapiens

DBpedia resource is: http://dbpedia.org/resource/ATP2B1

Abstract is: Plasma membrane calcium-transporting ATPase 1 is a plasma membrane Ca2+ ATPase, an enzyme that in humans is encoded by the ATP2B1 gene. It's a transport protein, a translocase, a calcium pump EC 7.2.2.10. 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 1. Alternatively spliced transcript variants encoding different isoforms have been identified. ATP2B1 is a critical host factor supporting cytotoxicity caused by Chironex fleckeri (a type of box jellyfish) stings. Blocking ATP2B1 is believed to have therapeutic potential for treating pain and skin necrosis caused by these stings.

ATP2B1 is …
instance of (P31):
geneQ7187

sublass of (P279):
protein-coding geneQ20747295

External links are
P594Ensembl gene IDENSG00000070961
P704Ensembl transcript IDENST00000261173
ENST00000359142
ENST00000393164
ENST00000428670
ENST00000549585
ENST00000549727
ENST00000550716
ENST00000551009
ENST00000551310
ENST00000552275
ENST00000635033
P351Entrez Gene ID490
P2888exact matchhttp://identifiers.org/ncbigene/490
P646Freebase ID/m/03gwy65
P353HGNC gene symbolATP2B1
P354HGNC ID814
P593HomoloGene ID55597
P6366Microsoft Academic ID2777218811
P492OMIM ID108731
108731
P639RefSeq RNA IDNM_001001323
NM_001682
XM_011538407
XM_017019357
XM_017019358
XM_017019359
XM_017019360
XR_001748724
P2892UMLS CUIC1412640

P1057chromosomehuman chromosome 12Q847102
P4196cytogenetic location12q21.33
P688encodesATPase plasma membrane Ca2+ transporting 1Q21115322
Plasma membrane calcium-transporting ATPase 1Q21151936
P5572expressed inoccipital lobeQ848340
superior frontal gyrusQ3064113
Brodmann area 23Q4973067
external globus pallidusQ6495612
frontal poleQ11397859
jejunal mucosaQ30015772
secondary oocyteQ66509944
cartilage tissueQ66526729
primary visual cortexQ66531315
lateral nuclear group of thalamusQ66558397
P703found in taxonHomo sapiensQ15978631
P2293genetic associationarterial hypertensionQ41861
coronary artery diseaseQ844935
P645genomic end89709300
90103077
P644genomic start89588049
89981828
P684orthologAtp2b1Q18262914
Atp2b1Q24390037
atp2b1aQ29743222
P2548strand orientationreverse strandQ22809711

Wikimedia Commons Images

P692: Gene Atlas image


FileName: PBB GE ATP2B1 209281 s at fs.png

Description: Gene expression pattern of the ATP2B1 gene.

Artist: AndrewGNF at en.wikipedia

Work is copyrighted.
License: CC BY-SA 3.0
Attribution is required.

P692: Gene Atlas image


FileName: PBB GE ATP2B1 212930 at fs.png

Description: Gene expression pattern of the ATP2B1 gene.

Artist: AndrewGNF at en.wikipedia

Work is copyrighted.
License: CC BY-SA 3.0
Attribution is required.

P692: Gene Atlas image


FileName: PBB GE ATP2B1 215716 s at fs.png

Description: Gene expression pattern of the ATP2B1 gene.

Artist: AndrewGNF at en.wikipedia

Work is copyrighted.
License: CC BY-SA 3.0
Attribution is required.