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

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

Homo sapiens

Also known as SERCA3

Gene ID: 489 | Gene type: protein coding

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 Reference 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
Cellular Component GO Annotation Evidence Reference 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

Cation_ATPase_N: Cation transporter/ATPase, N-terminus (5 - 72)

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (93 - 341)

Hydrolase

Hydrolase: haloacid dehalogenase-like hydrolase (346 - 714)

Cation_ATPase_C

Cation_ATPase_C: Cation transporting ATPase, C-terminus (784 - 987)

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  • 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

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