ATP2A1 - ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 Gene

Homo sapiens

Also known as ATP2A; SERCA1

Gene ID: 487 | Gene type: protein coding

About ATP2A1

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:28,878,488-28,904,466 (from NCBI)

This gene has 9 transcripts (splice variants), 178 orthologues, 21 paralogues and is associated with 2 phenotypes. Biased expression in esophagus (RPKM 15.8), prostate (RPKM 13.1) and 1 other tissue.

Summary

This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This Enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]

ATP2A1 Products(3)

mRNA	Protein	Name
NM_001286075.2	NP_001273004.1	sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform c
NM_004320.6	NP_004311.1	sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform a
NM_173201.5	NP_775293.1	sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform b

ATP2A1 Protein Structure

Cation_ATPase_N

E1-E2_ATPase

Hydrolase

Cation_ATPase_C

0
200
400
600
800
1001 a.a.

Protein Preferred Names

Protein Names

sarcoplasmic/endoplasmic reticulum calcium ATPase 1

ATPase, Ca++ transporting, cardiac muscle, fast twitch 1

Related Diseases

Diseases

Alias

Brody Disease

Brody Myopathy	BROD
Sarcoplasmic Reticulum -Ca2+Atpase Deficiency	Myopathy, Brody

Atrophic Muscular Disease

Muscular Disorders, Atrophic

Myotonic Dystrophy 1

Myotonic Dystrophy	Dystrophia Myotonica
Steinert Disease	Myotonic Dystrophy Type 1
Myotonia Atrophica	DM1
Congenital Myotonic Dystrophy	Myotonia Dystrophica
Steinert Myotonic Dystrophy	Dystrophia Myotonica 1
Dm	Steinert'S Disease
Steinert Myotonic Dystrophy Syndrome	Myotonic Dystrophy Of Steinert
Dystrophia Myotonica Type 1	Myotonic Dystrophy Congenital
Dystrophy, Myotonic, Type 1	Dm - [Dystrophia Myotonica]
Myotonic Muscular Dystrophy

Myotonic Disease

Myotonic Disorders	Myotonic Syndrome
Symptomatic Myotonia

Myopathy

Muscular Diseases

Myopathies

Infiltrating Lipoma

Intramuscular Lipoma

Myotonic Dystrophy 2

Myotonic Dystrophy Type 2	Proximal Myotonic Myopathy
Promm	Ricker Syndrome
DM2	Dystrophia Myotonica 2
Myotonic Myopathy, Proximal	Myotonic Disorders
Dystrophia Myotonica Type 2	Proximal Myotonic Dystrophy
Ricker Disease	Myotonic Dystrophy, Type 2
Dystrophy, Myotonic, Type 2

Glycogen Storage Disease V

Mcardle Disease	Myophosphorylase Deficiency
Glycogen Storage Disease Type V	Muscle Glycogen Phosphorylase Deficiency
Pygm Deficiency	Gsd V
Glycogen Storage Disease, Type V	Glycogenosis Type V
Glycogen Storage Disease Type 5	GSD5
Pygmy	Mcardle'S Disease
Mcardle Type Glycogen Storage Disease	Gsd Type V
Pygmy, African	Gsdv
Gsd 5	Glycogenosis 5
Mcardle Syndrome	Muscle Phosphorylase Deficiency
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Gsd Due To Muscle Glycogen Phosphorylase Deficiency
Gsd Type 5	Glycogenosis Due To Muscle Glycogen Phosphorylase Deficiency
Glycogenosis Type 5	Glycogen Storage Disease 5
Gsd-V	Mcardles Disease
Storage Disease, Glycogen, Type V

Benign Chronic Pemphigus

Hailey-Hailey Disease	Pemphigus, Benign Familial
Familial Benign Pemphigus	Benign Familial Pemphigus
Familial Benign Chronic Pemphigus	BCPM
HHD	Benign Chronic Familial Pemphigus Of Hailey-Hailey
Pemphigus, Chronic, Benign

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Malignant Hyperthermia

Anesthesia Related Hyperthermia	Malignant Hyperpyrexia Due To Anesthesia
Hyperpyrexia, Malignant	Hyperthermia, Malignant
Malignant Hyperpyrexia	Mhs
Malignant Fever

Multiminicore Disease

Multiminicore Myopathy	Mmd
Minicore Disease	Minicore Myopathy
Multi-Core Congenital Myopathy	Multi-Core Disease
Multi-Minicore Disease	Multicore Disease
Multicore Myopathy	Minicore Myopathy With External Ophthalmoplegia

Myotonia Congenita

Congenital Myotonia, Autosomal Dominant Form	Congenital Myotonia
Thomsen And Becker Disease	Thomsen Disease
Thomsen'S Disease	Generalized Myotonia Of Thomsen
Congenital Myotonic Muscular Dystrophy	Myotonia Congenita Nos

Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy	Fuchs Endothelial Dystrophy
Fuchs Dystrophy	Fced
Fuchs' Corneal Dystrophy	Fuchs' Endothelial Corneal Dystrophy
Fuchs Atrophy	Fuchs Corneal Dystrophy
Endoepithelial Corneal Dystrophy	Fecd
Late Hereditary Endothelial Dystrophy	Corneal Dystrophy, Fuchs Endothelial
Dystrophy, Corneal, Fuchs Endothelial	Corneal Dystrophy, Fuchs' Endothelial, 1

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

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 (3)

Cat. No.	Product Name	Purity	Rare Diseases
HY-RS01191	ATP2A1 Human Pre-designed siRNA Set A	/	Unkown
HY-RS01194	ATP2B1 Human Pre-designed siRNA Set A	/	Unkown
HY-RS01198	ATP2C1 Human Pre-designed siRNA Set A	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ATP2A1	VGNC	VGNC:26290
Canis familiaris	ATP2A1	VGNC	VGNC:38253
Rattus norvegicus	ATP2A1	RGD	RGD:621293
Mus musculus	ATP2A1	MGD	MGI:105058
Felis catus	ATP2A1	VGNC	VGNC:68617

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