ATP2B1 - ATPase plasma membrane Ca2+ transporting 1 Gene

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

E1-E2_ATPase

Hydrolase

Cation_ATPase_C

ATP_Ca_trans_C

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

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	Pre-designed Sets	/	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

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