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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ATP2A1 Gene

protein-coding GIFtS: 73
GCID: GC16P028889

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

(Previous symbol: ATP2A)

Explore 20 diseases affiliated with
ATP2A1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
ATPase, Ca++ Transporting, Cardiac Muscle, Fast Twitch 1¹ ²		Endoplasmic Reticulum Class 1/2 Ca(2+) ATPase² ³
SERCA1¹ ² ³ ⁵		SR Ca(2+)-ATPase 1² ³
ATP2A¹ ²		EC 3.6.3.8³ ⁸
Calcium Pump 1² ³		Sarcoplasmic/Endoplasmic Reticulum Calcium ATPase 1²
Calcium-Transporting ATPase Sarcoplasmic Reticulum Type, Fast Twitch Skeletal Muscle Isoform² ³		EC 3.6.3⁸

External Ids:	HGNC: 811¹	Entrez Gene: 487²	Ensembl: ENSG00000196296⁷	OMIM: 108730⁵	UniProtKB: O14983³

Export aliases for ATP2A1 gene to outside databases

Previous GC identifers: GC16U990002 GC16P029213 GC16P028888 GC16P028927 GC16P028798 GC16P026757

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATP2A1:

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 two transcript variants encoding different

isoforms. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: AT2A1_HUMAN, O14983

Function: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium

from the cytosol to the sarcoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular

excitation/contraction

summary for ATP2A1:

Ca2+-ATPases function to maintain a low cytoplasmic conentration of Ca2+ ions. They are high affinity, low

capacitance transporters and compliment the actions of the low affinity, high capacitance Na+/Ca2+

exchanger. Ca2+-ATPases are P-type ATPases and there are two varients; a plasma membrane-bound Ca2+-ATPase

(PMCA) and a sacroplasmic reticulum Ca2+-ATPase (SERCA). PMCA exists as a dimer within the plasma membrane

of a wide variety of cell types and, using the energy released from ATP hydrolysis, transports Ca2+ ions out

of the cell against the concentration gradient. SERCA is located in the sarcoplasmic reticulum (SR) of

muscle cells and transports Ca2+ ions from the cytoplasm into the SR lumen during muscle relaxation. PMCA

transports one Ca2+ ion per ATP molecule hydrolyzed, whilst SERCA can transport two. PMCAs are regulated by

calmodulin and the phospholipid composition of the surrounding plasma membrane. Furthermore, PMCA can be

phosphorylated by PKA, PKC, Src and FAK at specific residues to influence activity. So far, only one human

pathology has been linked to PMCA defects; deafness. However, SERCA defects have been implicated in a wide

array of pathologies including heart failure, sperm motility defects, cataract formation, carcinogenesis,

diabetes, and cardiac hypertension and hypertrophy.

Gene Wiki entry for ATP2A1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010393.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ATP2A1 gene promoter:
NF-1 NF-1/L p53 GATA-3 MyoD Tal-1beta E47 YY1 COMP1 ZID
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ATP2A1 promoter sequence

Search SABiosciences Chromatin IP Primers for ATP2A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP2A1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p12.1 Ensembl cytogenetic band: 16p11.2 HGNC cytogenetic band: 16p12.1

ATP2A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP2A1 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P028889: view genomic region (about GC identifiers)

Start:	28,889,726 bp from pter	End:	28,915,830 bp from pter
Size:	26,105 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AT2A1_HUMAN, O14983 (See protein sequence)

Recommended Name: Sarcoplasmic/endoplasmic reticulum calcium ATPase 1

Size: 1001 amino acids; 110252 Da

Subunit: Associated with sarcolipin (SLN) and phospholamban (PLN) (By similarity)

Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Sarcoplasmic reticulum membrane;

Multi-pass membrane protein

Developmental stage: Isoform SERCA1A accounts for more than 99% of SERCA1 isoforms expressed in adult skeletal muscle,

while isoform SERCA1B predominates in neo-natal skeletal muscle

Secondary accessions: A8K5J9 O14984

Alternative splicing: 2 isoforms: O14983-1 O14983-2

Explore the universe of human proteins at neXtProt for ATP2A1: NX_O14983

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O14983

4/62 DME Specific Peptides for ATP2A1 (O14983) (see all 62)

VPGDIVE

DDNFSTI

VQLLWVN

AICRRIG

ATP2A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_004311.1 NP_775293.1

ENSEMBL proteins:

ENSP00000349595 ENSP00000378879 ENSP00000458035 ENSP00000457798 ENSP00000443101

ENSP00000457357 ENSP00000457148 ENSP00000457793

Reactome Protein details: O14983
Human Recombinant Protein Products:

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	Uscn Proteins for ATP2A1

Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005792	microsome	--	--
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	ISS	--
GO:0016020	membrane	ISS	--
GO:0016021	integral to membrane	NAS	9405806

ATP2A1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for ATP2A1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ATP2A1 for domains About GeneDecksing

5/10 InterPro domains/families (see all 10):

IPR023298 ATPase_P-typ_TM_dom

IPR023306 ATPase_cation_domN

IPR023299 ATPase_P-typ_cyto_domN

IPR008250 ATPase_P-typ_transduc_dom_A

IPR005782 ATPase_P-typ_Ca-transp

Graphical View of Domain Structure for InterPro Entry O14983

ProtoNet protein and cluster: O14983

4 Blocks protein families:

IPB000695 H+-transporting ATPase (proton pump) signature

IPB001757 ATPase

IPB006068 Cation transporting ATPase

IPB008250 E1-E2 ATPase-associated region

UniProtKB/Swiss-Prot: AT2A1_HUMAN, O14983

Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: AT2A1_HUMAN, O14983

Function: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium

from the cytosol to the sarcoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular

excitation/contraction

Catalytic activity: ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2)

Enzyme regulation: Reversibly inhibited by phospholamban (PLN) at low calcium concentrations. Dephosphorylated PLN

decreases the apparent affinity of the ATPase for calcium. This inhibition is regulated by the phosphorylation of PLN

(By similarity)

Induction: Increased contractile activity leads to a decrease in SERCA1 expression, while decreased contractile

activity leads to an increase in SERCA1 expression

Genatlas biochemistry entry for ATP2A1:

sarcoplasmic reticulum,ATPase,Ca++ transporting,transciently expressed,mediating the extrusion of CA2+ from internal

stores in the endoplasmic reticulum with two alternatively spliced isoforms,SERCA1A expressed in adult muscle and a

minor form SERCA1B in neonatal fibers

Enzyme Numbers (IUBMB): EC 3.6.3.8¹ ² EC 3.6.3²

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		hsa-miR-4312 hsa-miR-765 hsa-miR-340 hsa-miR-1305 hsa-miR-646 hsa-miR-1227 hsa-miR-625 hsa-miR-542-3p

		SwitchGear 3'UTR luciferase reporter plasmid: ATP2A1 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP2A1

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	--	--
GO:0005388	calcium-transporting ATPase activity	IDA	1329967
GO:0005509	calcium ion binding	ISS	--
GO:0005515	protein binding	IPI	9295312
GO:0005524	ATP binding	ISS	--

ATP2A1 for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for ATP2A1:

Decreased G3BP1 protein expres

Decreased homologous recombina

Increased gamma-H2AX phosphory

Animal Models:
Mouse knock-out Atp2a1^tm1Dhm for ATP2A1
4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Atp2a1):

homeostasis/metabolism

mortality/aging

muscle

respiratory system

ATP2A1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/17 super-pathways (see all 17) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Ion channel transport

Ion channel transport

1.00

Ion transport by P-type ATPases

0.32

Platelet calcium homeostasis

Platelet calcium homeostasis

1.00

Reduction of cytosolic Ca++ levels

0.53

Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.

Alzheimer's disease

0.43

Alzheimers Disease

0.00

PKA activation in glucagon signalling

Development Beta-adrenergic receptors signaling via cAMP

0.29

Development_Beta-adrenergic receptors signaling via cAMP

0.29

Antiarrhythmic Pathway, Pharmacodynamics

Antiarrhythmic Pathway, Pharmacodynamics

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for ATP2A1

Development Beta-adrenergic receptors signaling via cAMP

4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ATP2A1

	Calcium Mediated T-Cell Apoptosis
	Intracellular Calcium Signaling
	Beta-Adrenergic Signaling
	Dopamine-DARPP32 Feedback onto cAMP Pathway

1 Cell Signaling Technology (CST) Pathway for ATP2A1

Translational Control

1 GeneGo (Thomson Reuters) Pathway for ATP2A1

Development Beta-adrenergic receptors signaling via cAMP

2 BioSystems Pathways for ATP2A1

	Alzheimers Disease
	calcium transport I

5/7 Reactome Pathways for ATP2A1 (see all 7)

	Hemostasis
	Transmembrane transport of small molecules
	Ion channel transport
	Platelet homeostasis
	Ion transport by P-type ATPases

2 PharmGKB Pathways for ATP2A1

	Antiarrhythmic Pathway, Pharmacodynamics
	Celecoxib Pathway, Pharmacodynamics

3 Kegg Pathways (Kegg details for ATP2A1):

	Calcium signaling pathway
	Pancreatic secretion
	Alzheimer's disease

ATP2A1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ATP2A1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/57 Interacting proteins for ATP2A1 (O14983^{2, 3} ENSP00000349595⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 57)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TNFRSF1B	P20333²^,³	MINT-49460 I2D: score=2
PLN	P26678³, ENSP00000350132⁴	I2D: score=2 STRING: ENSP00000350132
IRS2	Q9Y4H2³, ENSP00000365016⁴	I2D: score=1 STRING: ENSP00000365016
SLN	O00631³, ENSP00000304707⁴	I2D: score=2 STRING: ENSP00000304707
IRS1	P35568³, ENSP00000304895⁴	I2D: score=1 STRING: ENSP00000304895

About this table

Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006200	ATP catabolic process	ISS	--
GO:0006754	ATP biosynthetic process	IEA	--
GO:0006816	calcium ion transport	IMP	9405806
GO:0006942	regulation of striated muscle contraction	IMP	9405806
GO:0007596	blood coagulation	TAS	--

ATP2A1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ATP2A1 for compounds About GeneDecksing

EMD Millipore small molecules for ATP2A1:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Compounds for ATP2A1 available from Tocris Bioscience About this table

Compound	Action	CAS #
Cyclopiazonic acid	Inhibitor of SERCA ATPase	[18172-33-3]
POM 1	Inhibitor of E-NTPDases	[12141-67-2]
BHQ	Inhibitor of SERCA ATPase	[88-58-4]
Thapsigargin	Potent inhibitor of SERCA ATPase	[67526-95-8]

2 HMDB Compounds for ATP2A1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--
Magnesium	Magnesium (see all 2)	7439-95-4	--

5 DrugBank Compounds for ATP2A1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Adenosine-5'-Diphosphate	--	20398-34-9	target	--	17139284 17016423 10592235
Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate	--	--	target	--	17139284 17016423 10592235
Tetrafluoroaluminate Ion	--	--	target	--	17139284 17016423 10592235
(6AR,11AS,11BR)-10-ACETYL-9-HYDROXY-7,7-DIMETHYL-2,6,6A,7,11A,11B-HEXAHYDRO-11H-PYRROLO[1',2':2,3]ISOINDOLO[4,5,6-CD]INDOL-11-ONE	--	--	target	--	10592235
2,5-DI-(TERT-BUTYL)-1,4,BENZOHYDROQUINONE	--	--	target	--	10592235

6 Novoseek chemical compound relationships for ATP2A1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
calcium	53.2	49	9575189 (5), 19723525 (3), 10025953 (2), 10914677 (2) (see all 20)
thapsigargin	43	3	14970206 (2)
atp	31.4	2	10025953 (1), 15909986 (1)
halothane	23	4	9037193 (3), 10814537 (1)
triiodothyronine	21.8	3	11725863 (1), 7980406 (1)
lipid	0	1	12556441 (1)

Search CenterWatch for drugs/clinical trials and news about ATP2A1 / AT2A1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ATP2A1 gene (2 alternative transcripts):

NM_004320.4 NM_173201.3

Unigene Cluster for ATP2A1:

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

Hs.657344 [show with all ESTs]

Unigene Representative Sequence: BX537784

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000357084 ENST00000395503(uc002drn.1 uc002dro.1 uc002drp.1)

ENST00000563975 ENST00000562185 ENST00000536376 ENST00000564732(uc010bym.1)

ENST00000565042 ENST00000564470 ENST00000564112

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATP2A1

Additional cDNA sequence:

AK092691.1 AK128456.1 AK291314.1 BC037354.1 BC104452.2 BC104453.2 BX537389.1 BX537784.1

BX647365.1 BX647366.1 BX647367.1 BX647368.1 BX648544.1 BX649072.1 EF139859.1 EF139860.1

16 DOTS entries:

DT.317108 DT.100722106 DT.100793777 DT.101984726 DT.100793779 DT.101982511 DT.102843668 DT.102843688

DT.102843705 DT.100793782 DT.100812663 DT.120695784 DT.86854683 DT.100733603 DT.102843675 DT.92424851

24/186 AceView cDNA sequences (see all 186):

CF552159 BM786721 BC037354 BM553136 BX500625 F19529 F24518 F27722

AK092691 BM698737 BX500714 AK128456 AA213963 CF551844 CA390154 AA321749

NM_173201 NM_004320 BX501030 BE259475 F24144 AW409651 BF203951 F18895

GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for ATP2A1 (see all 13) About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5a	·	5b	^	6a	·	6b	^	7	^	8	^	9	^	10a	·	10b	·	10c	·	10d	^	11	^	12	^	13	^	14a	·	14b	^	15a	·	15b	·	15c	^	16	^	17	^
SP1:			-				-
SP2:																																			-
SP3:
SP4:
SP5:																																			-

ExUns:	18a	·	18b	^	19	^	20	^	21	^	22a	·	22b	^	23	^	24a	·	24b
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for ATP2A1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ATP2A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCCCCTTCCC

About this image

ATP2A1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Atrioventricular Canal

Atrioventricular Canal Cells

Myocardium

Adipose

Interscapular Brown Adipose Depot

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ATP2A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATP2A1

SOURCE GeneReport for Unigene cluster: Hs.657344

UniProtKB/Swiss-Prot: AT2A1_HUMAN, O14983

Tissue specificity: Skeletal muscle, fast twitch muscle (type II) fibers

SABiosciences Expression via Pathway-Focused PCR Array including ATP2A1:

Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP2A1 gene from 7/32 species (see all 32) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	ATP2A1⁶	--	88(a)	1 ↔ 1	GL343287.1(501340-536931)
African clawed frog (Xenopus laevis)	Amphibia	ca-p60a-prov²	Calcium ATPase at 60A	80.32(n)		BC044063.1
zebrafish (Danio rerio)	Actinopterygii	zgc55380²	similar to ATPase, Ca++ transporting, cardiac muscle, more	81.14(n)		393940 BC045327.1
fruit fly (Drosophila melanogaster)	Insecta	Ca-P60A^{1 , 3}	calcium ion transport calcium-transporting ATPase³ Calcium ATPase at 60A¹	71(a)³ 70.42(n)¹ 71.63(a)¹		60A11³ 49297¹ NM_166634.1¹ NP_726382.1¹
worm (Caenorhabditis elegans)	Secernentea	sca-1¹	Protein SCA-1	66.9(n) 72.83(a)		176512 NM_066985.3 NP_499386.1
thale cress (Arabidopsis thaliana)	eudicotyledons	ECA3¹	Ca2+-transporting ATPase	55.7(n) 56.36(a)		837550 NM_100887.2 NP_563860.1
rice (Oryza sativa)	Liliopsida	Os03g0730800¹	hypothetical protein	56.05(n) 56.72(a)		4333998 NM_001057698.2 NP_001051163.2

ENSEMBL Gene Tree for ATP2A1 (if available)
TreeFam Gene Tree for ATP2A1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ATP2A1 gene

ATP2C1² ATP2A3² ATP1A2² ATP2C2² ATP1A4² ATP4A² ATP1A3² ATP2A2²

ATP12A² ATP1A1²

7 SIMAP similar genes for ATP2A1 using alignment to 7 protein entries: AT2A1_HUMAN (see all proteins):

DKFZp779G2251 DKFZp779O2152 ATP2A2 ATP2A3 ATP2C1 ATP2C2

DKFZp686I0955

ATP2A1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs7498836^1,2	C,F,H,	--	26755927(+)	`CTGCTC/TGGACT`	2	--	us2k¹ tfbs³		11		NS NA CSA WA	1400
rs80127885^1,2	C,F,	--	26757878(+)	`CCCTTC/GCCAAA`	2	--	int¹		3		CSA WA	123
rs58632114^1,2		--	26758592(+)	`CGGCAG/TGCGCC`	2	--	int¹		0	--	--	--	--
rs7500623^1,2	C,	--	26758682(+)	`TCGAGG/AGGAGG`	2	--	int¹ trp³		2		CSA WA	119
rs111474647^1,2	C,	--	26759172(+)	`GCCGAG/TGGGGA`	2	--	int¹		2		CSA WA	119
rs112348784^1,2	C,	--	26760853(+)	`CAAGTG/AATCCG`	2	--	int¹		1		WA	2
rs74014811^1,2	C,	--	26761562(+)	`CCCTCC/ACGGGC`	2	--	int¹		3		WA CSA	122
rs8044457^1,2	C,H	--	26762319(+)	`CCCCCC/AGACAA`	2	--	int¹		1		NA	2
rs11643913^1,2	C,F,H,	--	26762539(+)	`AGACCG/AGGCTG`	2	--	int¹		2		NA	212
rs7501189^1,2	C,F,	--	26763003(+)	`CAACAG/CAGCGA`	2	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for ATP2A1 (28889726 - 28915830 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ATP2A1
1 CNV: 3999
Human Gene Mutation Database (HGMD): ATP2A1

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ATP2A1 for disorders           About GeneDecksing

OMIM gene information: 108730
OMIM disorders: 601003
UniProtKB/Swiss-Prot: AT2A1_HUMAN, O14983

Defects in ATP2A1 are the cause of Brody myopathy (BRM) [MIM:601003]. An autosomal recessive myopathy

characterized by increasing impairment of relaxation of fast twist skeletal muscle during exercise

20 diseases for ATP2A1: About MalaCards

cataract hypertension brody myopathy myotonic dystrophy

myotonic dystrophy type 1 pseudomyotonia chronic obstructive pulmonary disease batten disease

muscular dystrophy pulmonary disease myopathy hepatitis b

hepatitis obesity pneumonia tuberculosis

thyroiditis pancreatitis malaria mycobacterium tuberculosis

1 disease from the University of Copenhagen DISEASES database for ATP2A1:

Myopathy

1 Novoseek disease relationship for ATP2A1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
myotonic dystrophy	54.4	1	17728322 (1)

Genatlas disease: ATP2A1

myopathy,with impaired skeletal muscle relaxation,Brody disease

Human Genome Epidemiology (HuGE) Navigator: ATP2A1 (2 documents)

Export disorders for ATP2A1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ATP2A1 gene, integrated from 9 sources (see all 100):
(articles sorted by number of sources associating them with ATP2A1)

Utopia: connect your pdf to the dynamic
world of online information

Characterization of cDNA and genomic DNA encoding SERCA1, the Ca(2+)- ATPase of human fast-twitch skeletal muscle sarcoplasmic reticulum, and its elimination as a candidate gene for Brody disease. (PubMed id 8825625)^{1, 2, 9} Zhang Y.... Maclennan D.H. (1995)
The mutation of Pro(789) to Leu reduces the activity of the fast- twitch skeletal muscle sarco(endo)plasmic reticulum Ca(2+) ATPase (SERCA1) and is associated with Brody disease. (PubMed id 10914677)^{1, 2, 9} Odermatt A.... MacLennan D.H. (2000)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Mutations of either or both Cys876 and Cys888 residues of sarcoplasmic reticulum Ca2+-ATPase result in a complete loss of Ca2+ transport activity without a loss of Ca2+-dependent ATPase activity. Role of the Cys876-Cys888 disulfide bond. (PubMed id 11438520)^{1, 2} Daiho T....Suzuki H. (2001)
Sarcolipin regulates the activity of SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+-ATPase. (PubMed id 9575189)^{1, 9} Odermatt A....MacLennan D.H. (1998)
Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease. (PubMed id 9367679)^{1, 9} Odermatt A.... Maclennan D.H. (1997)
Sarco(endo)plasmic reticulum Ca2+ ATPases (SERCA1 and -2) in human extraocular muscles. (PubMed id 14638697)^{1, 9} Kjellgren D....Pedrosa-Domellof F. (2003)
Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1. (PubMed id 17728322)^{1, 9} Hino S....Imaizumi K. (2007)
Method-related effects of adenovirus-mediated LacZ and SERCA1 gene transfer on contractile behavior of cultured failing human cardiomyocytes. (PubMed id 15767202)^{1, 9} Weisser-Thomas J....Pieske B. (2005)
Structure/function analysis of the Ca2+ binding and translocation domain of SERCA1 and the role in Brody disease of the ATP2A1 gene encoding SERCA1. (PubMed id 9405806)^{1, 9} MacLennan D.H....Odermatt A. (1997)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 487	HGNC: 811	AceView: ATP2A1	Ensembl:ENSG00000196296	euGenes: HUgn487
ECgene: ATP2A1	Kegg: 487	H-InvDB: ATP2A1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ATP2A1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ATP2A1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for ATP2A1 gene
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Patent Information for ATP2A1 gene:
Search GeneIP for patents involving ATP2A1

GeneCards and IP:
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ATP2A1 Gene

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

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ATP2A1 Gene

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

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