ATP2B1 - ATPase plasma membrane Ca2+ transporting 1 Gene

Also Known as MRD66; PMCA1; PMCA1kb

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 490

About ATP2B1

Cytogenetic location: 12q21.33 Genomic coordinates (GRCh38): 12:89,588,049-89,709,366 (from NCBI)

This gene has 11 transcripts (splice variants), 195 orthologues, 21 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 34.3), bone marrow (RPKM 16.4) and 23 other tissues.

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 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ATP2B1 Products (30)

mRNA Protein Name
NM_001001323.2 NP_001001323.1 plasma membrane calcium-transporting ATPase 1 isoform 1a
NM_001366520.1 NP_001353449.1 plasma membrane calcium-transporting ATPase 1 isoform 1b
NM_001366521.1 NP_001353450.1 plasma membrane calcium-transporting ATPase 1 isoform 1b
NM_001366522.1 NP_001353451.1 plasma membrane calcium-transporting ATPase 1 isoform 1b
NM_001366523.1 NP_001353452.1 plasma membrane calcium-transporting ATPase 1 isoform 1a
NM_001366524.1 NP_001353453.1 plasma membrane calcium-transporting ATPase 1 isoform 2
NM_001366525.1 NP_001353454.1 plasma membrane calcium-transporting ATPase 1 isoform 2
NM_001366526.1 NP_001353455.1 plasma membrane calcium-transporting ATPase 1 isoform 3
NM_001366527.1 NP_001353456.1 plasma membrane calcium-transporting ATPase 1 isoform 3
NM_001366528.1 NP_001353457.1 plasma membrane calcium-transporting ATPase 1 isoform 4
NM_001366529.1 NP_001353458.1 plasma membrane calcium-transporting ATPase 1 isoform 5
NM_001366530.1 NP_001353459.1 plasma membrane calcium-transporting ATPase 1 isoform 6
NM_001366531.1 NP_001353460.1 plasma membrane calcium-transporting ATPase 1 isoform 7
NM_001366532.1 NP_001353461.1 plasma membrane calcium-transporting ATPase 1 isoform 7
NM_001413046.1 NP_001399975.1 plasma membrane calcium-transporting ATPase 1 isoform 1b
NM_001413047.1 NP_001399976.1 plasma membrane calcium-transporting ATPase 1 isoform 1b
NM_001413048.1 NP_001399977.1 plasma membrane calcium-transporting ATPase 1 isoform 8
NM_001413049.1 NP_001399978.1 plasma membrane calcium-transporting ATPase 1 isoform 9
NM_001413050.1 NP_001399979.1 plasma membrane calcium-transporting ATPase 1 isoform 9
NM_001413051.1 NP_001399980.1 plasma membrane calcium-transporting ATPase 1 isoform 10
NM_001413052.1 NP_001399981.1 plasma membrane calcium-transporting ATPase 1 isoform 10
NM_001413053.1 NP_001399982.1 plasma membrane calcium-transporting ATPase 1 isoform 11
NM_001413054.1 NP_001399983.1 plasma membrane calcium-transporting ATPase 1 isoform 12
NM_001413055.1 NP_001399984.1 plasma membrane calcium-transporting ATPase 1 isoform 13
NM_001413056.1 NP_001399985.1 plasma membrane calcium-transporting ATPase 1 isoform 5
NM_001413057.1 NP_001399986.1 plasma membrane calcium-transporting ATPase 1 isoform 14
NM_001413058.1 NP_001399987.1 plasma membrane calcium-transporting ATPase 1 isoform 15
NM_001413059.1 NP_001399988.1 plasma membrane calcium-transporting ATPase 1 isoform 15
NM_001413060.1 NP_001399989.1 plasma membrane calcium-transporting ATPase 1 isoform 15
NM_001682.3 NP_001673.2 plasma membrane calcium-transporting ATPase 1 isoform 1b

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
enables ATP hydrolysis activity IDA
IDA: Inferred from direct assay
30190470 GOA
enables calcium ion transmembrane transporter activity IDA
IDA: Inferred from direct assay
18029012 GOA
enables molecular function inhibitor activity IDA
IDA: Inferred from direct assay
30190470 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12763866 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in calcium ion export across plasma membrane IDA
IDA: Inferred from direct assay
18029012 GOA
involved in negative regulation of cytosolic calcium ion concentration IMP
IMP: Inferred from mutant phenotype
29104511 GOA
involved in regulation of cellular response to insulin stimulus IMP
IMP: Inferred from mutant phenotype
29104511 GOA
involved in regulation of cytosolic calcium ion concentration IDA
IDA: Inferred from direct assay
18029012 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in plasma membrane IDA
IDA: Inferred from direct assay
18029012 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATP2B1 Protein Structure

Cation_ATPase_N

Cation_ATPase_N: Cation transporter/ATPase, N-terminus (52 - 121)

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (159 - 465)

Hydrolase

Hydrolase: haloacid dehalogenase-like hydrolase (470 - 809)

Cation_ATPase_C

Cation_ATPase_C: Cation transporting ATPase, C-terminus (880 - 1059)

ATP_Ca_trans_C

ATP_Ca_trans_C: Plasma membrane calcium transporter ATPase C terminal (1103 - 1165)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1220 a.a.
Protein Preferred Names Protein Names

plasma membrane calcium-transporting ATPase 1

  • ATPase, Ca++ transporting, plasma membrane 1

ATP2B1 Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P81931 PMCA1 Antibody (YA1676) WB, IHC-P Human, Mouse, Rat
HY-P81931A PMCA1 Antibody (YA1676)(PBS only) WB, IHC-P Human, Mouse, Rat

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Dominant 66

  • MRD66

  • Mental Retardation, Autosomal Dominant 66
Rare Disease With Pierre Robin Syndrome
Pierre Robin Syndrome

  • Pierre Robin Sequence

  • Glossoptosis, Micrognathia, And Cleft Palate

  • Pierre Robin Syndrome Skeletal Dysplasia Polydactyly

  • Pierre-Robin Syndrome

  • Isolated Pierre Robin Sequence

  • Isolated Pierre-Robin Syndrome

  • PRBNS

  • Robin Sequence

  • Robin Syndrome

  • Isolated Pierre Robin Syndrome
Talipes Equinovarus

  • Congenital Equinovarus

  • Congenital Talipes Equinovarus

  • Equinovarus

  • Congenital Varus Clubfoot
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly

  • CCF

  • Familial Clubfoot Due To 5q31 Microdeletion

  • Familial Clubfoot Due To Pitx1 Point Mutation

  • Hereditary Clubfoot Due To Pitx1 Point Mutation

  • Hereditary Clubfoot Due To 5q31 Microdeletion

  • Talipes Equinovarus

  • Tev

  • Clubfoot, Congenital, With/Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Periventricular Nodular Heterotopia

  • Periventricular Heterotopia

  • Pvnh

  • Familial Nodular Heterotopia

  • Heterotopia, Periventricular

  • Periventricular Heterotopia, X-Linked
Clubfoot

  • Congenital Talipes Equinovarus

  • Congenital Clubfoot

  • Congenital Equinovarus

  • Equinovarus Deformity Of Foot

  • Club Foot
X-Linked Cerebellar Ataxia
Nephrotic Syndrome, Type 3

  • NPHS3

  • Nephrotic Syndrome Type 3

  • Nephrotic Syndrome, Early-Onset, Type 3

  • Early Onset Nephrotic Syndrome Type 3

  • Nephrotic Syndrome 3

  • Early-Onset Nephrotic Syndrome Type 3
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes

  • Spondyloepimetaphyseal Dysplasia, Pakistani Type

  • Spondyloepimetaphyseal Dysplasia, Papss2 Type

  • BCYM4

  • Semd, Pakistani Type

  • Spondylodysplasia And Premature Pubarche

  • Brachyolmia 4 With Mild Epiphyseal And Metaphyseal Changes

  • Spondyloepimetaphyseal Dysplasia Pakistani Type

  • Semd Pakistani Type

  • Spondylometaepiphyseal Dysplasia Pakistani Type

  • Brachyolmia, Type 4, With Mild Epiphyseal And Metaphyseal Changes
Spinocerebellar Ataxia, X-Linked 1

  • X-Linked Progressive Cerebellar Ataxia

  • SCAX1

  • Opcax

  • X-Linked Spinocerebellar Ataxia 1

  • Olivopontocerebellar Atrophy, X-Linked

  • Opca, X-Linked

  • Olivopontocerebellar Atrophy X-Linked

  • Opca X-Linked

  • Ataxia, Spinocerebellar, X-Linked Type 1
Hypertension, Essential

  • Essential Hypertension

  • Hypertension

  • High Blood Pressure

  • Hypertension, Essential, Susceptibility To

  • Hypertensive Disease

  • Primary Hypertension

  • EHT

  • Hypertension, Salt-Sensitive Essential, Susceptibility To

  • Hyperpiesia

  • Idiopathic Hypertension

  • Hypertensive Disorder

  • Hypertension, Essential, Susceptibility To, 3

  • Hypertension, Essential 3

  • Hypertension, Essential, Salt-Sensitive

  • Hypertension, Essential, Susceptibility To, 6

  • Hypertension, Essential 6

  • Hypertension, Salt-Sensitive Essential

  • Hypertension, Susceptibility To

  • Hypertension, Essential, Susceptibility To, 4

  • Hypertension, Essential 4

  • Hypertension, Essential, Susceptibility To, 2

  • Hypertension, Essential 2

  • Hypertension, Essential, Susceptibility To, 1

  • Hypertension, Essential 1

  • Hypertension, Essential, Susceptibility To, 5

  • Hypertension, Essential 5

  • Htn

  • Vascular Hypertensive Disorder

  • Systemic Primary Arterial Hypertension

  • Hbp - [High Blood Pressure]

  • Systemic Arterial Hypertensive Disorder

  • Elevated Blood Pressure

  • Arterial Hypertension Nos

  • Hypertension Nos

  • Benign Hypertension

  • Systemic Arterial Hypertension

  • Systemic Hypertension

  • Artery Htn

  • Benign Htn

  • Vascular Htn

  • Vascular Hypertension

  • Cholesterol Hypertension

  • Cholesterol Htn

  • Idiopathic Htn

  • Malignant Hypertension

  • Malignant Htn

  • Raised Blood Pressure

  • Cardiovascular Hypertension

  • Primary Htn - [Hypertension]

  • High Arterial Tension

  • High Blood Pressure Disorder

  • Ht - [Hypertension]

  • Htn - [Hypertension]

  • Hypertensive Vascular Disease

  • Hypertensive Vascular Degeneration
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS01194 ATP2B1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20524 Atp2b1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27033 Atp2b1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta ATP2B1 VGNC VGNC:70180
Mus musculus ATP2B1 MGD MGI:104653
Felis catus ATP2B1 VGNC VGNC:68628
Rattus norvegicus ATP2B1 RGD RGD:621303
Bos taurus ATP2B1 VGNC VGNC:26293
Canis familiaris ATP2B1 VGNC VGNC:38256
Others ATP2B1 NCBI