Free for academic non-profit institutions. Other users need a Commercial license
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 plas... See more...
Aliases for ATP2B1 Gene
Aliases for ATP2B1 Gene
External Ids for ATP2B1 Gene
- HGNC: 814
- Entrez Gene: 490
- Ensembl: ENSG00000070961
- OMIM: 108731
- UniProtKB: P20020
Previous GeneCards Identifiers for ATP2B1 Gene
- GC12M089402
- GC12M090431
- GC12M089916
- GC12M088486
- GC12M088484
- GC12M087047
- GC12M089981
Summaries for ATP2B1 Gene
-
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for ATP2B1 Gene
ATP2B1 (ATPase Plasma Membrane Ca2+ Transporting 1) is a Protein Coding gene. Diseases associated with ATP2B1 include Nephrotic Syndrome, Type 3 and Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes. Among its related pathways are C-MYB transcription factor network and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include nucleotide binding and calcium-transporting ATPase activity. An important paralog of this gene is ATP2B2.
UniProtKB/Swiss-Prot Summary for ATP2B1 Gene
-
Catalyzes the hydrolysis of ATP coupled with the transport of calcium from the cytoplasm to the extracellular space thereby maintaining intracellular calcium homeostasis. Plays a role in blood pressure regulation through regulation of intracellular calcium concentration and nitric oxide production leading to regulation of vascular smooth muscle cells vasoconstriction. Positively regulates bone mineralization through absorption of calcium from the intestine. Plays dual roles in osteoclast differentiation and survival by regulating RANKL-induced calcium oscillations in preosteoclasts and mediating calcium extrusion in mature osteoclasts (By similarity). Regulates insulin sensitivity through calcium/calmodulin signaling pathway by regulating AKT1 activation and NOS3 activation in endothelial cells (PubMed:29104511).
Additional gene information for ATP2B1 Gene
- HGNC(814)
- Entrez Gene(490)
- Ensembl(ENSG00000070961)
- OMIM(108731)
- UniProtKB(P20020)
- Open Targets Platform(ENSG00000070961)
- Monarch Initiative
- Search for ATP2B1 at DataMed
- Search for ATP2B1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP2B1 Gene
Genomics for ATP2B1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ATP2B1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ATP2B1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP2B1
- Top Transcription factor binding sites by QIAGEN in the ATP2B1 gene promoter:
-
- AP-4
- AREB6
- ATF-2
- Chx10
- CUTL1
- Evi-1
- FOXL1
- POU6F1 (c2)
- RSRFC4
- Tal-1beta
Genomic Locations for ATP2B1 Gene
Genomic Locations for ATP2B1 Gene
- chr12:89,588,049-89,709,366
- (GRCh38/hg38)
- Size:
- 121,318 bases
- Orientation:
- Minus strand
- chr12:89,981,826-90,103,077
- (GRCh37/hg19)
- Size:
- 121,252 bases
- Orientation:
- Minus strand
Genomic View for ATP2B1 Gene
Genes around ATP2B1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q21.33 by HGNC
- 12q21.33 by Entrez Gene
- 12q21.33 by Ensembl
ATP2B1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ATP2B1 Gene
Proteins for ATP2B1 Gene
-
Protein details for ATP2B1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P20020-AT2B1_HUMAN
- Recommended name:
- Plasma membrane calcium-transporting ATPase 1
- Protein Accession:
- P20020
- Q12992
- Q12993
- Q13819
- Q13820
- Q13821
- Q16504
- Q93082
Protein attributes for ATP2B1 Gene
- Size:
- 1220 amino acids
- Molecular mass:
- 134685 Da
- Quaternary structure:
-
- Monomer (PubMed:1332771). Dimer (PubMed:1332771). Oligomer (PubMed:1332771). Calmodulin binding (PubMed:1332771). Interacts with PDZD11 (PubMed:12763866). Interacts with SLC35G1 and STIM1; inhibits calcium-transporting ATPase activity after store depletion (PubMed:22084111). Interacts with YWHAE; interacts with the monomeric and dimeric forms of the YWHAE but prefer the monomer form; this interaction inhibits calcium-transporting ATPase activity (PubMed:18029012). Interacts with NPTN; this interaction stabilizes ATP2B1 and increases ATPase activity; this interaction controls T cell calcium homeostasis following T cell activation (PubMed:30190470). Interacts with EPB41; regulates small intestinal calcium absorption through regulation of membrane expression of ATP2B1 (By similarity).
Protein Expression for ATP2B1 Gene
Selected DME Specific Peptides for ATP2B1 Gene
- P20020:
-
- LLSGTHVMEGSGRMVVTAVG
- IPLIDDTD
- VTAVGVNS
- SSLTGES
- IFCTIVLGTF
- TIVFNTFV
- VIEPMASEGLRTI
- FDIDSGR
- WLAECTP
- VRMVTGDNINTA
- QILWFRGLNRIQTQ
- VTISLAYSV
- FLGMGTLLWGQLISTIPTS
- KDNNLVRHL
- LWVNLIMDT
- PYGRNKPLISRTMMKNILGHA
- EQERIDK
- LYKVYTF
- LAVQIGKAGL
- HPEFRIEDS
- IPPKKPKTFL
- MQLFNEINARKIHGERNVF
- NTARAIATKCGIL
- EASDIIL
- LALATEPPT
- DKTGTLT
- PGEDFLCLEGK
- VTAFNDWSKEKQFRGLQSRIE
- EEELAEDVEEI
- KILPPEKEG
- LRVLARSSPTDKHTLVKGIIDS
- QFQLTVN
- AGITVRMVTG
- QYFVKFFIIG
- GWIEGAAIL
- PGSPLHS
- IRNEKGE
- VGDIAQVKYGDLLPADG
- GTDVAKEA
- VGNKTEC
- AFRSSLYEGLEKPE
- IDSGRNAPLH
- TQKEEIPEEEL
- PPNILSYLVTGISVNCAYTSKILPPE
- NINTARAIA
- NSQTGIIFTLLGA
- NRMTVVQ
- VTGDGTND
- KCQRAGITV
- AAIVSLGLSFY
- VWEALQD
- MSAITVIILVLYF
- GVTVLVV
- MEMQPLKS
- RIEQEQKF
- SVRKSMSTV
- DESSLTGE
- IVQFGGKPFSCS
- VVGIEDPVRPEVP
- HAERELRR
- AVPEGLPL
Post-translational modifications for ATP2B1 Gene
Other Protein References for ATP2B1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for ATP2B1
- Novus Biologicals Antibodies for ATP2B1
-
Abcam antibodies for ATP2B1
- Invitrogen Antibodies for ATP2B1 (AFLGC-ATP2B1)
-
Santa Cruz Biotechnology (SCBT) Antibodies for ATP2B1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ATP2B1
- Origene Custom Protein Services for ATP2B1
- Novus Biologicals proteins for ATP2B1
-
Signalway Proteins for ATP2B1
Domains & Families for ATP2B1 Gene
Gene Families for ATP2B1 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Enzymes
- Plasma proteins
- Predicted membrane proteins
Protein Domains for ATP2B1 Gene
- InterPro:
- Blocks:
-
- ATPase, E1-E2 type
- Cation transporting ATPase, C-terminal
- E1-E2 ATPase-associated region
- ProtoNet:
Suggested Antigen Peptide Sequences for ATP2B1 Gene
- GenScript: Design optimal peptide antigens:
-
- PMCA1kb (A1X4P7_HUMAN)
- Plasma membrane calcium pump isoform 1 (AT2B1_HUMAN)
- Plasma membrane calcium-ATPase isoform 1b (Q3L582_HUMAN)
- ATP2B1 protein (Q58F24_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P20020UniProtKB/Swiss-Prot:
AT2B1_HUMAN :- Isoforms A, C, D and E contain an additional calmodulin-binding subdomain B which is different in the different splice variants and shows pH dependent calmodulin binding properties.
- Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily.
- Domain:
-
- Isoforms A, C, D and E contain an additional calmodulin-binding subdomain B which is different in the different splice variants and shows pH dependent calmodulin binding properties.
- Family:
-
- Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily.
Function for ATP2B1 Gene
Molecular function for ATP2B1 Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the hydrolysis of ATP coupled with the transport of calcium from the cytoplasm to the extracellular space thereby maintaining intracellular calcium homeostasis. Plays a role in blood pressure regulation through regulation of intracellular calcium concentration and nitric oxide production leading to regulation of vascular smooth muscle cells vasoconstriction. Positively regulates bone mineralization through absorption of calcium from the intestine. Plays dual roles in osteoclast differentiation and survival by regulating RANKL-induced calcium oscillations in preosteoclasts and mediating calcium extrusion in mature osteoclasts (By similarity). Regulates insulin sensitivity through calcium/calmodulin signaling pathway by regulating AKT1 activation and NOS3 activation in endothelial cells (PubMed:29104511).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate; Xref=Rhea:RHEA:18105, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29108, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=7.2.2.10; Evidence={ECO:0000305|PubMed:30190470};.
- UniProtKB/Swiss-Prot Induction:
- Up-regulated at the proliferative phase of the mentrual cycle. Up-regulated by estrogen.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=519.5 uM for ATP (in complex with NPTN) {ECO:0000269|PubMed:30190470}; Vmax=325.5 nmol/min/mg enzyme {ECO:0000269|PubMed:30190470};
- GENATLAS Biochemistry:
- ATPase,Ca++ transporting,B1plasma membrane,mediating the extrusion of CA2+ from the cell
Enzyme Numbers (IUBMB) for ATP2B1 Gene
Phenotypes From GWAS Catalog for ATP2B1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0005388 | calcium-transporting ATPase activity | TAS,IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 18029012 |
| GO:0005516 | calmodulin binding | IEA | -- |
| GO:0005524 | ATP binding | IEA | -- |
Phenotypes for ATP2B1 Gene
- MGI mutant phenotypes for ATP2B1:
-
inferred from 5 alleles
- nervous system phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- renal/urinary system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- skeleton phenotype
- integument phenotype
- embryo phenotype
- GenomeRNAi human phenotypes for ATP2B1:
Animal Models for ATP2B1 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for ATP2B1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ATP2B1 - Select products 50% OFF >
- * ATP2B1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ATP2B1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP2B1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP2B1
miRNA for ATP2B1 Gene
- miRTarBase miRNAs that target ATP2B1
-
- hsa-miR-204-5p (MIRT005818)
- mmu-miR-223-3p (MIRT009735)
- hsa-miR-615-3p (MIRT039645)
- hsa-let-7a-5p (MIRT052579)
- hsa-miR-150-5p (MIRT136366)
- hsa-miR-4713-5p (MIRT136399)
- hsa-miR-6892-3p (MIRT136414)
- hsa-miR-6817-3p (MIRT384905)
- hsa-miR-6873-3p (MIRT384906)
- hsa-miR-7110-3p (MIRT384907)
- hsa-miR-20a-5p (MIRT441150)
- hsa-miR-106b-5p (MIRT441151)
- hsa-miR-142-3p (MIRT441152)
- hsa-miR-4465 (MIRT561119)
- hsa-miR-498 (MIRT561120)
- hsa-miR-26b-5p (MIRT561121)
- hsa-miR-26a-5p (MIRT561122)
- hsa-miR-1297 (MIRT561123)
- hsa-miR-5697 (MIRT561124)
- hsa-miR-513c-3p (MIRT561125)
- hsa-miR-513a-3p (MIRT561126)
- hsa-miR-4282 (MIRT561127)
- hsa-miR-3606-3p (MIRT561128)
- mmu-miR-5121 (MIRT577202)
- mmu-miR-3967 (MIRT577203)
- mmu-miR-384-3p (MIRT577204)
- mmu-miR-686 (MIRT590587)
- mmu-miR-1196-5p (MIRT590588)
- mmu-miR-1264-3p (MIRT590589)
- mmu-miR-466b-3p (MIRT595166)
- mmu-miR-466c-3p (MIRT595167)
- mmu-miR-466p-3p (MIRT595168)
- mmu-miR-3074-5p (MIRT601181)
- mmu-miR-691 (MIRT601182)
- mmu-miR-875-3p (MIRT601183)
- mmu-miR-694 (MIRT601184)
- hsa-miR-6749-3p (MIRT724522)
- hsa-miR-642a-5p (MIRT724523)
- hsa-miR-6845-3p (MIRT724524)
- hsa-miR-4469 (MIRT724525)
- hsa-miR-2116-3p (MIRT724526)
- hsa-miR-532-3p (MIRT724527)
- hsa-miR-6769b-3p (MIRT724528)
- hsa-miR-4723-3p (MIRT724529)
- hsa-miR-3183 (MIRT724530)
- hsa-miR-2276-5p (MIRT724531)
- hsa-miR-483-3p (MIRT724532)
- hsa-miR-181d-5p (MIRT728252)
- hsa-miR-181c-5p (MIRT728253)
- hsa-miR-181b-5p (MIRT728254)
- hsa-miR-519d-3p (MIRT728255)
- hsa-miR-181a-5p (MIRT728256)
- hsa-miR-93-5p (MIRT728257)
- hsa-miR-20b-5p (MIRT728258)
- hsa-miR-17-5p (MIRT728259)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATP2B1
- Browse OriGene Inhibitory RNA Products For ATP2B1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2B1
Clone Products
- Applied Biological Materials (abm): Clones for ATP2B1 - Select products 50% OFF >
- * ATP2B1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ATP2B1
- Addgene plasmids for ATP2B1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP2B1
Cell Line Products
-
Horizon Cell Lines for ATP2B1
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP2B1 Gene
Localization for ATP2B1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ATP2B1 Gene
- Cell membrane. Multi-pass membrane protein. Basolateral cell membrane. Cell junction, synapse. Note=Colocalizes with SV2A in photoreceptor synaptic terminals. Colocalizes with NPTN to the immunological synapse. Colocalizes with EPB41 to the basolateral membrane in enterocyte. {ECO:0000250 UniProtKB:G5E829}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| extracellular | 4 |
| cytosol | 3 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| cytoskeleton | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001772 | immunological synapse | ISS | -- |
| GO:0005623 | cell | IEA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS | 8396145 |
Pathways & Interactions for ATP2B1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cardiac conduction |
.39
|
|
| 2 | Platelet homeostasis | ||
| 3 | cGMP-PKG signaling pathway | ||
| 4 | Aldosterone synthesis and secretion | ||
| 5 | Calcium signaling pathway | ||
Pathways by source for ATP2B1 Gene
2 BioSystems pathways for ATP2B1 Gene
10 Reactome pathways for ATP2B1 Gene
9 KEGG pathways for ATP2B1 Gene
1 Qiagen pathway for ATP2B1 Gene
- Intracellular Calcium Signaling
Interacting Proteins for ATP2B1 Gene
Selected Interacting proteins:
P20020-AT2B1_HUMAN
ENSP00000392043
for ATP2B1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for ATP2B1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001818 | negative regulation of cytokine production | ISS | -- |
| GO:0003056 | regulation of vascular smooth muscle contraction | ISS | -- |
| GO:0003407 | neural retina development | IEA | -- |
| GO:0006811 | ion transport | IEA | -- |
| GO:0006816 | calcium ion transport | IEA | -- |
No data available for SIGNOR curated interactions for ATP2B1 Gene
Drugs & Compounds for ATP2B1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Desflurane | Approved | Pharma | Target, inhibitor | 209 | ||
| Halothane | Approved, Vet_approved | Pharma | Activator, Inhibitor, Target, inhibitor | 3 | ||
| Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
| Water | Approved | Pharma | 0 | |||
| ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
||
| Phosphate |
|
14066-19-4, 14265-44-2 |
|
Transcripts for ATP2B1 Gene
mRNA/cDNA for ATP2B1 Gene
- 15 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000359142 6977 nts (view in UCSC)
- ENST00000428670 7032 nts (view in UCSC)
- ENST00000635033 1358 nts (view in UCSC)
- ENST00000393164 3127 nts (view in UCSC)
- ENST00000550716 486 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ATP2B1 - Select products 50% OFF >
- * ATP2B1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ATP2B1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP2B1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP2B1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATP2B1
- Browse OriGene Inhibitory RNA Products For ATP2B1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2B1
Clone Products
- Applied Biological Materials (abm): Clones for ATP2B1 - Select products 50% OFF >
- * ATP2B1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ATP2B1
- Addgene plasmids for ATP2B1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP2B1
| 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: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: |
Relevant External Links for ATP2B1 Gene
- GeneLoc Exon Structure for
- ATP2B1
Expression for ATP2B1 Gene
mRNA differential expression in normal tissues according to GTEx for ATP2B1 Gene
This gene is overexpressed in Brain - Putamen (basal ganglia) (x5.0), Brain - Caudate (basal ganglia) (x4.8), Brain - Nucleus accumbens (basal ganglia) (x4.1), and Brain - Frontal Cortex (BA9) (x4.1).
This gene is overexpressed in Frontal cortex (17.6) and Brain (15.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP2B1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP2B1
SOURCE GeneReport for Unigene cluster for ATP2B1 Gene:
Hs.506276mRNA Expression by UniProt/SwissProt for ATP2B1 Gene:
P20020-AT2B1_HUMAN
Tissue specificity:
Isoform B: Ubiquitously expressed. Isoform C: Found in brain cortex, skeletal muscle and heart muscle. Isoform D: Has only been found in fetal skeletal muscle. Isoform K: Found in small intestine and liver. Abundantly expressed in the endometrial epithelial cells and glandular epithelial cells in early-proliferative phase and early-secretory phases (PubMed:21400627).
Evidence on tissue expression from TISSUES for ATP2B1 Gene
- Nervous system(4.9)
- Muscle(4.6)
- Intestine(4.5)
- Blood(4.5)
- Bone(4.4)
- Liver(4.4)
- Kidney(2.7)
- Heart(2.7)
- Pancreas(2.5)
- Eye(2.5)
- Skin(2.4)
- Stomach(2.3)
- Lung(2.2)
Primer Products
-
OriGene qPCR primer pairs for ATP2B1
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP2B1 Gene
Orthologs for ATP2B1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ATP2B1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ATP2B1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ATP2B1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ATP2B1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Mouse (Mus musculus) |
Mammalia | Atp2b1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Atp2b1 30 |
|
||
| Chicken (Gallus gallus) |
Aves | ATP2B1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ATP2B1 31 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.25538 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | atp2b1b 31 |
|
OneToMany | |
| atp2b1a 30 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | BEST:CK01140 32 |
|
|
|
| PMCA 31 |
|
OneToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | mca-3 31 |
|
ManyToMany | |
| mca-2 31 |
|
ManyToMany | |||
| R05C11.3 32 |
|
|
|||
| mca-1 31 32 |
|
ManyToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PMC1 31 |
|
OneToMany | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ACA11 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os12g0136900 30 |
|
||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.8619 30 |
|
||
| Corn (Zea mays) |
Liliopsida | Zm.17277 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for ATP2B1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
Evolution for ATP2B1 Gene
- ENSEMBL:
- Gene Tree for ATP2B1 (if available)
- TreeFam:
- Gene Tree for ATP2B1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ATP2B1: view image
Paralogs for ATP2B1 Gene
Paralogs for ATP2B1 Gene
(6) SIMAP similar genes for ATP2B1 Gene using alignment to 7 proteins:
- AT2B1_HUMAN
- A1X4P7_HUMAN
- E7ERY9_HUMAN
- F8W1V5_HUMAN
- H0YHH6_HUMAN
- Q3L582_HUMAN
- Q58F24_HUMAN
Pseudogenes.org Pseudogenes for ATP2B1 Gene
Variants for ATP2B1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP2B1 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 760163 | Likely Benign: not provided | 89,630,605(-) | T/C | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
| 768569 | Benign: not provided | 89,626,608(-) | G/T | SYNONYMOUS_VARIANT | |
| 770776 | Benign: not provided | 89,604,242(-) | A/G | SYNONYMOUS_VARIANT | |
| 773679 | Benign: not provided | 89,616,817(-) | A/G | SYNONYMOUS_VARIANT | |
| 784251 | Benign: not provided | 89,591,227(-) | C/A | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT |
Residual Variation Intolerance Score:
3.86% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.07;
21.83% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ATP2B1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- ATP2B1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP2B1 Gene
Disorders for ATP2B1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| nephrotic syndrome, type 3 |
|
|
| brachyolmia type 4 with mild epiphyseal and metaphyseal changes |
|
|
| hypertension, essential |
|
|
Search ATP2B1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ATP2B1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for ATP2B1 Gene
Publications for ATP2B1 Gene
- Structure of the gene encoding the human plasma membrane calcium pump isoform 1. (PMID: 8396145) Hilfiker H … Strehler EE (The Journal of biological chemistry 1993) 3 4 23
- Localization of two genes encoding plasma membrane Ca2(+)-transporting ATPases to human chromosomes 1q25-32 and 12q21-23. (PMID: 1674727) Olson S … McBride OW (Genomics 1991) 2 3 23
- Structure of the human plasma membrane Ca2+-ATPase 1 in complex with its obligatory subunit neuroplastin. (PMID: 30190470) Gong D … Zhou Q (Nature communications 2018) 3 4
- ATP2B1 gene Silencing Increases Insulin Sensitivity through Facilitating Akt Activation via the Ca2+/calmodulin Signaling Pathway and Ca2+-associated eNOS Activation in Endothelial Cells. (PMID: 29104511) Long Y … Xu Y (International journal of biological sciences 2017) 3 4
- POST, partner of stromal interaction molecule 1 (STIM1), targets STIM1 to multiple transporters. (PMID: 22084111) Krapivinsky G … Clapham DE (Proceedings of the National Academy of Sciences of the United States of America 2011) 3 4
ExternalLinks
Products for ATP2B1 Gene
- Custom Antibody ServicesOriGene Antibodies for ATP2B1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ATP2B1
- Origene Custom Protein Services for ATP2B1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATP2B1
- Browse OriGene Inhibitory RNA Products For ATP2B1
- OriGene qPCR primer pairs for ATP2B1
- OriGene CRISPR knockouts for ATP2B1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ATP2B1
- Sino Biological Human cDNA Clone for ATP2B1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for ATP2B1
- Novus Biologicals proteins for ATP2B1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for ATP2B1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for ATP2B1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for ATP2B1 (AFLGC-ATP2B1)
- VectorBuilder Custom and pre-made DNA vectors for ATP2B1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for ATP2B1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for ATP2B1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for ATP2B1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for ATP2B1
- Addgene plasmids for ATP2B1
- antibodies-online: Show 17 available ATP2B1 Antibodies ranked by validation data
- Compare Top ATP2B1 Antibodies
- antibodies-online: Search results for available ATP2B1 related products ranked by validation data
- antibodies-online: Show 10 available ATP2B1 Proteins ranked by validation data
- Compare Top ATP2B1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for ATP2B1
- Search Santa Cruz Biotechnology (SCBT) for ATP2B1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ATP2B1
- Horizon Cell Lines for ATP2B1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP2B1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP2B1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ATP2B1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2B1
- Signalway Proteins for ATP2B1
Sources for ATP2B1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB