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

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

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Darier Disease Segmental

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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

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Phthiriasis Pubis

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Benign Chronic Pemphigus

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Familial Benign Pemphigus

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Coffin-Siris Syndrome 1

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Css

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Hhid

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Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

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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