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Aliases & Descriptions for ATP2B1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases EC 3.6.3.8 3 PMCA1 1 , 2 , 3 , 5 PMCA1kb 2
Descriptions ATPase, Ca++ transporting, plasma membrane 1 2 Plasma membrane calcium ATPase isoform 1 3 Plasma membrane calcium pump isoform 1 3 plasma membrane calcium ATPase 1 2 plasma membrane calcium pump 2 plasma membrane calcium-ATPase 2
Search outside databases for aliases for ATP2B1 genePrevious GC identifers: GC12M089402 GC12M090431 GC12M089916 GC12M088486
Summaries for ATP2B1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for ATP2B1 : The protein encoded by this gene belongs to the family of P-type primary ion transport ATPasescharacterized by the formation of an aspartyl phosphate intermediate during the reaction cycle.These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentrationgradients and play a critical role in intracellular calcium homeostasis. The mammalian plasmamembrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity ofthese enzymes is further increased by alternative splicing of transcripts. The expression ofdifferent isoforms and splice variants is regulated in a developmental, tissue- and celltype-specific manner, suggesting that these pumps are functionally adapted to the physiologicalneeds of particular cells and tissues. This gene encodes the plasma membrane calcium ATPaseisoform 1. Alternatively spliced transcript variants encoding different isoforms have beenidentified. [provided by RefSeq] UniProtKB/Swiss-Prot: AT2B1_HUMAN, P20020 Function : This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with thetransport of calcium out of the cell
Genomic Location for ATP2B1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the ATP2B1 gene Entrez Gene cytogenetic band: 12q21.3 Ensembl cytogenetic band: 12q21.33 HGNC cytogenetic band: 12q21-q23 ATP2B1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure
GeneLoc location for GC12M088484:
(about GC identifiers )
Start:
88,505,957 bp from pter
End:
88,573,975 bp from pter
Size:
68,019 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000012.10 NT_019546.15 Proteins for ATP2B1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: AT2B1_HUMAN, P20020 (See
protein sequence )Recommended Name: Plasma membrane calcium-transporting ATPase 1 Size : 1258 amino acids; 138755 Da
Subcellular location : Cell membrane; Multi-pass membrane protein
Secondary accessions : Q12992 Q12993 Q13819 Q13820 Q13821 Q16504 Q93082Alternative splicing : 6 isoforms : P20020-1 P20020-2 P20020-3 P20020-4 P20020-5 P20020-6
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001001323.1 NP_001673.2 ENSEMBL proteins: ENSP00000376869 ENSP00000352054 ENSP00000261173 ENSP00000343599 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for ATP2B1: Assays for ATP2B1:
Protein
Domains/ Families for ATP2B1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P20020 ProtoNet protein and cluster: P20020
3 Blocks protein families : IPB001757 ATPase IPB006068 Cation transporting ATPase IPB008250 E1-E2 ATPase-associated region UniProtKB/Swiss-Prot: AT2B1_HUMAN, P20020 Domain : The calmodulin-binding subdomain B is different in the different splice variants and showspH dependent calmodulin binding properties in isoforms A, C, D and E Similarity : Belongs to the cation transport ATPase (P-type) family. Type IIB subfamily
Gene Function for ATP2B1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001001323 Applied Biosystems Silencer ® siRNAs for ATP2B1 Sigma-Aldrich siRNA and siRNA Panels for ATP2B1 Sigma-Aldrich shRNA Panels and shRNA for ATP2B1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001001323                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001001323                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001001323  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001682 UniProtKB/Swiss-Prot: AT2B1_HUMAN, P20020 Function : This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with thetransport of calcium out of the cell Catalytic activity : ATP + H(2)O + Ca(2+)(Cis) = ADP + phosphate + Ca(2+)(Trans)Enzyme Number (IUBMB): EC 3.6.3.8
Genatlas biochemistry entry for ATP2B1 :ATPase,Ca++ transporting,B1plasma membrane,mediating the extrusion of CA2+ from the cell
2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Atp2b1) :5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8
):
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Pathways & Interactions for ATP2B1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for ATP2B1 (Your Favorite Gene powered by Ingenuity) 5/23 Interacting proteins for ATP2B1 (ENSP00000352054 3 P20020 2 ) via UniProtKB, MINT, and/or STRING (see all 23
)About this table 4 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for ATP2B1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Enzo Life Sciences drugs & compounds for ATP2B1
Browse Tocris compounds for ATP2B1 3 Novoseek chemical compound relationships for ATP2B1 gene
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Transcripts for ATP2B1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001001323 Sigma-Aldrich siRNA and siRNA Panels for ATP2B1 Sigma-Aldrich shRNA Panels and shRNA for ATP2B1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001001323 NM_001682
REFSEQ mRNAs for ATP2B1 gene (2 alternative transcripts): NM_001001323.1 NM_001682.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001001323 NM_001682
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001001323                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001001323                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001001323  
Additional cDNA sequence: AB208896.1 AF070606.1 AK024895.1 AK027053.1 AK308723.1 AY740526.1 BC015346.1 CR598557.1 CR624114.1 DQ201776.1 J04027.1 M95541.1 S49852.1 U15686.1 U15687.1
9 DOTS entries : DT.316081 DT.100773335 DT.91761431 DT.100773334 DT.91818069 DT.92059953 DT.100810094 DT.95230337 DT.91891941
24/295 AceView cDNA sequences (see all 295
):BQ776639 BM455624 M95541 BU618992 BM974301 AW873040 CB242007 AW439527 CA446744 AI865601 BF432072 BQ776185 BQ948286 BQ002401 AI865462 AA731599 CB159965 CB069114 AW169755 AI859270 J04027 H19799 U15686 AW613371
highest scoring ESTs for ATP2B1 :J04027 AF070606 AI337321 BC015346 BQ310789 M95541 AA025218 AA026006 AA041264 AA041498
Unigene Cluster for ATP2B1: ATPase, Ca++ transporting, plasma membrane 1 Hs.506276 [show with all ESTs ] Unigene Representative Sequence: NM_001001323 GeneLoc Exon Structure 5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ATP2B1 (see all 7
) ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 SP1 :                                                     SP2 :                                                 -     SP3 :                                             -     -     SP4 :       -                                               SP5 :                         -                            
About this scheme ECgene alternative splicing isoforms for ATP2B1 4 Ensembl transcripts including schematic representations : ENST00000393164
ENST00000359142
ENST00000261173
ENST00000348959
Expression for ATP2B1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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ATP2B1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for ATP2B1 1 / 2 / 3
9 probe-sets matching ATP2B1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TAATGGAAGGSOURCE GeneReport for Unigene cluster: Hs.506276 Expression variation in blood from EXPOLDB for ATP2B1
UniProtKB/Swiss-Prot: AT2B1_HUMAN, P20020 Tissue specificity : Isoform B is ubiquitously expressed. Isoform c is found in brain cortex,skeletal muscle and heart muscle. Isoform D has only been found in fetal skeletal muscle. Isoformk has been found in small intestine and liver
Orthologs for ATP2B1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for ATP2B1 gene from 5/14 species (see all 14
)
Organism
Gene
Locus
Description
Human Similarity
NCBI accessions
dog (Canis familiaris)
ATP2B11
--
ATPase, Ca++ transporting, plasma membrane 1
94.91(n) 98(a)
403480 XM_860630.1 XP_865723.1
cow (Bos taurus)
ATP2B11
--
ATPase, Ca++ transporting, plasma membrane 1
95.16(n) 98.77(a)
282641 NM_174696.2 NP_777121.1
rat (Rattus norvegicus)
Atp2b11
--
ATPase, Ca++ transporting, plasma membrane 1
88.58(n) 97.99(a)
29598 NM_053311.1 NP_445763.1
mouse (Mus musculus)
Atp2b11 , 5
105
ATPase, Ca++ transporting, plasma membrane 11, 5
90.79(n) 1 99.51(a) 1
67972 1 NM_026482.1 1 NP_080758.1 1 AI849350 5 AK013291 5 (see all 26 )
chicken (Gallus gallus)
ATP2B11
--
ATPase, Ca++ transporting, plasma membrane 1
85.11(n) 95.07(a)
374244 XM_416133.2 XP_416133.2
About this table Species with no ortholog for ATP2B1 ENSEMBL Gene Tree for ATP2B1 Paralogs for ATP2B1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for ATP2B1 gene ATP2B2 2 ATP2B3 2 ATP2B4 2
SNPs/Variants for ATP2B1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for ATP2B1 (up to first 250kb)
Disorders & Mutations for ATP2B1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 108731 2 Novoseek disease relationships for ATP2B1 gene
About this table Human Genome Epidemiology Navigator: ATP2B1 (2 documents)
Medical News for ATP2B1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for ATP2B1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/64 PubMed articles for ATP2B1 gene (see all 64
): Structure of the gene encoding the human plasma membrane calcium pump isoform 1. (PubMed id 8396145) 1, 3, 4 Hilfiker H....Strehler E.E. (1993) Localization of two genes encoding plasma membrane Ca2(+)-transporting ATPases to human chromosomes 1q25-32 and 12q21-23. (PubMed id 1674727) 1, 2, 3 Olson S....McBride O.W. (1991) Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983) 3, 4 Olsen J.V....Mann M. (2006) Investigation of the Met-267 Arg exchange in isoform 1 of the human plasma membrane calcium pump in patients with essential hypertension by the amplification-created restriction site technique. (PubMed id 9020386) 3, 4 Benkwitz C.... Neyses L. (1997) Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes. (PubMed id 7989379) 3, 4 Stauffer T.P....Strehler E.E. (1994) Human and rat intestinal plasma membrane calcium pump isoforms. (PubMed id 7694502) 3, 4 Howard A.... Walters J.R. (1993) Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes. (PubMed id 8245032) 3, 4 Stauffer T.P.... Strehler E.E. (1993) Molecular cloning of a plasma membrane calcium pump from human osteoblasts. (PubMed id 8386431) 3, 4 Kumar R.... Penniston J.T. (1993) Study of calmodulin binding to the alternatively spliced C-terminal domain of the plasma membrane Ca2+ pump. (PubMed id 1332771) 3, 4 Kessler F.... Carafoli E. (1992) Protein kinase C phosphorylates the carboxyl terminus of the plasma membrane Ca(2+)-ATPase from human erythrocytes. (PubMed id 1827443) 3, 4 Wang K.K.W....Roufogalis B.D. (1991)
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Genome Databases showing ATP2B1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing ATP2B1
(According to HUGE )
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--
Specialized Databases showing ATP2B1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for ATP2B1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009