ATP2A3 - ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 Gene

Also Known as SERCA3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 489

About ATP2A3

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:3,923,873-3,964,437 (from NCBI)

This gene has 15 transcripts (splice variants), 208 orthologues and 21 paralogues. Broad expression in lymph node (RPKM 38.6), stomach (RPKM 37.7) and 18 other tissues.

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 calcium sequestration associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

ATP2A3 Products (7)

mRNA	Protein	Name
NM_005173.4	NP_005164.2	sarcoplasmic/endoplasmic reticulum calcium ATPase 3 isoform a
NM_174953.3	NP_777613.1	sarcoplasmic/endoplasmic reticulum calcium ATPase 3 isoform e
NM_174954.3	NP_777614.1	sarcoplasmic/endoplasmic reticulum calcium ATPase 3 isoform d
NM_174955.3	NP_777615.1	sarcoplasmic/endoplasmic reticulum calcium ATPase 3 isoform b
NM_174956.3	NP_777616.1	sarcoplasmic/endoplasmic reticulum calcium ATPase 3 isoform c
NM_174957.3	NP_777617.1	sarcoplasmic/endoplasmic reticulum calcium ATPase 3 isoform f
NM_174958.3	NP_777618.1	sarcoplasmic/endoplasmic reticulum calcium ATPase 3 isoform c

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	9843705	GOA
enables calcium ion transmembrane transporter activity	IDA IDA: Inferred from direct assay	11956212	GOA
enables calcium-dependent ATPase activity	IDA IDA: Inferred from direct assay	9843705	GOA
enables cysteine-type endopeptidase activator activity involved in apoptotic process	IDA IDA: Inferred from direct assay	16725111	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28890335	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	18068335	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA IDA: Inferred from direct assay	16725111	GOA
involved in calcium ion transmembrane transport	IDA IDA: Inferred from direct assay	9843705	GOA
involved in calcium ion transport from cytosol to endoplasmic reticulum	IDA IDA: Inferred from direct assay	15028735	GOA
involved in intracellular calcium ion homeostasis	IMP IMP: Inferred from mutant phenotype	18068335	GOA
involved in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IDA IDA: Inferred from direct assay	16725111	GOA
involved in negative regulation of receptor binding	IMP IMP: Inferred from mutant phenotype	18068335	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	8809064	GOA
located in organelle membrane	IDA IDA: Inferred from direct assay	15028735	GOA
located in sarcoplasmic reticulum	IDA IDA: Inferred from direct assay	8809064	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

ATP2A3 Protein Structure

Cation_ATPase_N

E1-E2_ATPase

Hydrolase

Cation_ATPase_C

0
200
400
600
800
1000
1043 a.a.

Protein Preferred Names	Protein Names
sarcoplasmic/endoplasmic reticulum calcium ATPase 3	ATPase, Ca(2+)-transporting, ubiquitous

Related Diseases

Diseases	Alias
Darier-White Disease	Keratosis Follicularis Darier Disease Darier'S Disease DAR DD Darier White Disease Darier Disease Acral Hemorrhagic Type Darier Disease Segmental Darier Disease, Acral Hemorrhagic Type Darier Disease, Segmental
Atrophic Muscular Disease	Muscular Disorders, Atrophic
Acrokeratosis Verruciformis	Acrokeratosis Verruciformis Of Hopf Hopf Disease AKV Akv Of Hopf
Brody Disease	Brody Myopathy BROD Sarcoplasmic Reticulum -Ca2+Atpase Deficiency Myopathy, Brody
Pthirus Pubis Infestation	Infestation By Phthirus Pubis Crabs Pediculosis Pubis Pediculus Pubis Phthiriasis Pubis Phthirus Pubis Phthirus/Pediculus Pubis - Pubic Lice - Crabs
Thrombocytopenia With Beta-Thalassemia, X-Linked	XLTT Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome Gata1-Related X-Linked Cytopenia X-Linked Thrombocytopenia With Beta-Thalassemia Thrombocytopenia Platelet Dysfunction Hemolysis And Imbalanced Globin Synthesis
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
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01193	ATP2A3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01196	ATP2B3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ATP2A3	VGNC	VGNC:26292
Macaca mulatta	ATP2A3	VGNC	VGNC:70179
Felis catus	ATP2A3	VGNC	VGNC:68623
Mus musculus	ATP2A3	MGD	MGI:1194503
Rattus norvegicus	ATP2A3	RGD	RGD:2175
Canis familiaris	ATP2A3	VGNC	VGNC:38255
Others	ATP2A3	NCBI