2. Gene
  3. ATP2B1 - ATPase plasma membrane Ca2+ transporting 1 Gene

ATP2B1 - ATPase plasma membrane Ca2+ transporting 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as MRD66; PMCA1; PMCA1kb

Gene ID: 490 | Gene type: protein coding

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

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)

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  • 1220 a.a.
Protein Preferred Names Protein Names

plasma membrane calcium-transporting ATPase 1

ATPase, Ca++ transporting, plasma membrane 1

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01194 ATP2B1 Human Pre-designed siRNA Set A / 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