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

Also Known as ATP2A; SERCA1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 487

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables P-type calcium transporter activity	IDA IDA: Inferred from direct assay	1329967	GOA
enables calcium ion binding	IMP IMP: Inferred from mutant phenotype	9405806	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9295312	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	11402072	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in apoptotic mitochondrial changes	IMP IMP: Inferred from mutant phenotype	19061639	GOA
involved in calcium ion import	IMP IMP: Inferred from mutant phenotype	8040329	GOA
involved in calcium ion transport	IDA IDA: Inferred from direct assay	11402072	GOA
involved in calcium ion transport	IMP IMP: Inferred from mutant phenotype	9405806	GOA
involved in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IMP IMP: Inferred from mutant phenotype	19061639	GOA
involved in maintenance of mitochondrion location	IMP IMP: Inferred from mutant phenotype	19061639	GOA
involved in negative regulation of endoplasmic reticulum calcium ion concentration	IMP IMP: Inferred from mutant phenotype	11402072	GOA
involved in negative regulation of striated muscle contraction	IMP IMP: Inferred from mutant phenotype	10914677	GOA
involved in positive regulation of endoplasmic reticulum calcium ion concentration	IMP IMP: Inferred from mutant phenotype	11402072	GOA
involved in positive regulation of fast-twitch skeletal muscle fiber contraction	IDA IDA: Inferred from direct assay	12479237	GOA
involved in positive regulation of mitochondrial calcium ion concentration	IMP IMP: Inferred from mutant phenotype	19061639	GOA
involved in regulation of striated muscle contraction	IMP IMP: Inferred from mutant phenotype	9405806	GOA
involved in relaxation of skeletal muscle	IDA IDA: Inferred from direct assay	8841193	GOA
involved in response to endoplasmic reticulum stress	IMP IMP: Inferred from mutant phenotype	19061639	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in H zone	IDA IDA: Inferred from direct assay	1329967	GOA
located in I band	IDA IDA: Inferred from direct assay	1329967	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	11402072	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

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

ATP2A1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82412	SERCA1 ATPase Antibody (YA2157)	WB, IHC-P, IP	Human
HY-P83822	ATP2A1/SERCA1 Antibody (YA3519)	WB, FC, ELISA	Human, Mouse, Monkey
HY-P83822A	ATP2A1/SERCA1 Antibody (YA3519)(PBS only)	WB, FC, ELISA	Human, Mouse, Monkey

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

Pre-clinical Phase

Bioactive Molecules (5)

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