ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 [Homo sapiens] - Gene

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Summary

Official Symbol: ATP2A1provided by HGNC
Official Full Name: ATPase, Ca++ transporting, cardiac muscle, fast twitch 1provided by HGNC
Primary source: HGNC:811
See related: Ensembl:ENSG00000196296; HPRD:00157; MIM:108730; Vega:OTTHUMG00000131760
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ATP2A; SERCA1
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 two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 16p12.1

Sequence :: Chromosome: 16; NC_000016.9 (28889809..28915830)

See ATP2A1 in Epigenomics, MapViewer

Chromosome 16 - NC_000016.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

both topology and function of PLN are shaped by the interactions with lipids, which fine-tune the regulation of SERCA
Title: Structural topology of phospholamban pentamer in lipid bilayers by a hybrid solution and solid-state NMR method.
Differential SERCA1a S-nitrosylation and SERCA1a/2a co-expression in subsets of slow myofibers should be considered as signs of an altered cytosolic Ca(2+) homeostasis following chronic muscle disuse
Title: Atypical fast SERCA1a protein expression in slow myofibers and differential S-nitrosylation prevented by exercise during long term bed rest.
the increase in mechanical efficiency of cycling occurring during first weeks of endurance training may be due to down-regulation of SERCA pumps
Title: Training induced decrease in oxygen cost of cycling is accompanied by down-regulation of SERCA expression in human vastus lateralis muscle.
The truncated variant of the sarcoendoplasmic reticulum Ca(2+)-ATPase 1 (S1T) amplifies endoplasmic reticulum stress through the PERK-eIF2alpha-ATF4-CHOP pathway.
Title: Role of SERCA1 truncated isoform in the proapoptotic calcium transfer from ER to mitochondria during ER stress.
Ca (2+) binding to Site I of SERCA1a in fact slightly reduces Trp fluorescence, and consequently that the rise in this fluorescence generally observed when two Ca (2+) ions bind to WT SERCA1a mainly reflects Ca (2+) binding at Site II of SERCA1a.
Title: Use of glycerol-containing media to study the intrinsic fluorescence properties of detergent-solubilized native or expressed SERCA1a.
Overexpression of the CUG repeat expansion of DMPK mRNA resulted in exclusion of exon 22 of SERCA1.
Title: Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1.
Despite similar total calcium contents, lower SERCA and PMCA activities were found in sacs associated with hydrocele compared to those associated with undescended testis suggest a difference among the levels of cytosolic calcium.
Title: Sarco(endo)plasmic reticulum and plasmalemmal Ca(2+)-ATPase activities in cremaster muscles and sacs differ according to the associated inguinal pathology.
a functional abnormality in SERCA1 may have a role in inferior oblique overaction, an ocular motor disorder
Title: Calcium uptake and release through sarcoplasmic reticulum in the inferior oblique muscles of patients with inferior oblique overaction.
We suggest that aberrant splicing of SERCA1 mRNAs might contribute to impaired Ca2+ homeostasis in DM1 muscle
Title: Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.
SERCA1 gene transfer increased fractional myocardial cell shortening (compared to LacZ) and accelerated relengthening kinetics.
Title: Method-related effects of adenovirus-mediated LacZ and SERCA1 gene transfer on contractile behavior of cultured failing human cardiomyocytes.

Submit: New GeneRIF Correction See all (19)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.

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Products	Interactant	Other Gene	Source	Pubs	Description
O14983	P35568	IRS1	HPRD	PubMed
O14983	Q9Y4H2	IRS2	HPRD	PubMed
O14983	P26678	PLN	HPRD	PubMed
O14983	O00631	SLN	HPRD	PubMed
BioGRID:106977	BioGRID:111136	PCK1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106977	BioGRID:111365	PLN	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106977	BioGRID:112474	SLN	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106977	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
ATP binding	ISS Inferred from Sequence or Structural Similarity more info
calcium ion binding	IMP Inferred from Mutant Phenotype more info	PubMed
calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info
calcium-transporting ATPase activity	IDA Inferred from Direct Assay more info	PubMed
calcium-transporting ATPase activity	IEA Inferred from Electronic Annotation more info
hydrolase activity	IEA Inferred from Electronic Annotation more info
hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
ATP biosynthetic process	IEA Inferred from Electronic Annotation more info
ATP catabolic process	ISS Inferred from Sequence or Structural Similarity more info
apoptosis in response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed
apoptotic mitochondrial changes	IMP Inferred from Mutant Phenotype more info	PubMed
blood coagulation	TAS Traceable Author Statement more info
calcium ion import	IMP Inferred from Mutant Phenotype more info	PubMed
calcium ion transport	IDA Inferred from Direct Assay more info	PubMed
calcium ion transport	IEA Inferred from Electronic Annotation more info
calcium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
cation transport	IEA Inferred from Electronic Annotation more info
elevation of endoplasmic reticulum calcium ion concentration	IMP Inferred from Mutant Phenotype more info	PubMed
elevation of mitochondrial calcium ion concentration	IMP Inferred from Mutant Phenotype more info	PubMed
ion transmembrane transport	TAS Traceable Author Statement more info
maintenance of mitochondrion location	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of striated muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of fast-twitch skeletal muscle fiber contraction	IDA Inferred from Direct Assay more info	PubMed
reduction of endoplasmic reticulum calcium ion concentration	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of striated muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
relaxation of skeletal muscle	IDA Inferred from Direct Assay more info	PubMed
response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed
transmembrane transport	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
H zone	IDA Inferred from Direct Assay more info	PubMed
I band	IDA Inferred from Direct Assay more info	PubMed
calcium channel complex	IC Inferred by Curator more info	PubMed
endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum membrane	TAS Traceable Author Statement more info
endoplasmic reticulum-Golgi intermediate compartment	ISS Inferred from Sequence or Structural Similarity more info
integral to membrane	IEA Inferred from Electronic Annotation more info
integral to membrane	NAS Non-traceable Author Statement more info	PubMed
membrane	IEA Inferred from Electronic Annotation more info
membrane	ISS Inferred from Sequence or Structural Similarity more info
microsome	IMP Inferred from Mutant Phenotype more info	PubMed
perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
platelet dense tubular network membrane	TAS Traceable Author Statement more info
sarcoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
sarcoplasmic reticulum	NAS Non-traceable Author Statement more info	PubMed
sarcoplasmic reticulum membrane	IC Inferred by Curator more info	PubMed
sarcoplasmic reticulum membrane	TAS Traceable Author Statement more info	PubMed

General protein information

Preferred Names: sarcoplasmic/endoplasmic reticulum calcium ATPase 1

Names: sarcoplasmic/endoplasmic reticulum calcium ATPase 1; calcium pump 1; SR Ca(2+)-ATPase 1; endoplasmic reticulum class 1/2 Ca(2+) ATPase; calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform

NP_004311.1

EC 3.6.3.8

NP_775293.1

EC 3.6.3.8

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023327.1 RefSeqGene

Range

5001..31022

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004320.4 → NP_004311.1 sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (a) represents the longer transcript but encodes the shorter isoform (a).

Source sequence(s)

AK291314, BX537784, BX647367

Consensus CDS

CCDS42139.1

UniProtKB/Swiss-Prot

O14983

UniProtKB/TrEMBL

Q7Z675

Related

ENSP00000378879, OTTHUMP00000162562, ENST00000395503, OTTHUMT00000254687

Conserved Domains (6) summary

TIGR01116
Location:53 – 989
Blast Score: 4080

ATPase-IIA1_Ca; sarco/endoplasmic reticulum calcium-translocating P-type ATPase

pfam00122
Location:101 – 341
Blast Score: 526

E1-E2_ATPase; E1-E2 ATPase

pfam00689
Location:784 – 987
Blast Score: 383

Cation_ATPase_C; Cation transporting ATPase, C-terminus

pfam13246
Location:418 – 528
Blast Score: 208

Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit

cl02930
Location:4 – 72
Blast Score: 222

Cation_ATPase_N; Cation transporter/ATPase, N-terminus

cl11391
Location:598 – 712
Blast Score: 104

HAD_like; Haloacid Dehalogenase-like Hydrolases
NM_173201.3 → NP_775293.1 sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (b) lacks an exon in the 3' coding region resulting in a frameshift and use of a downstream termination codon, compared to variant a. Isoform b has a longer and distinct C-terminus, compared to isoform a. Isoform b is also referred to as the neonatal isoform.

Source sequence(s)

AK291314, BX537784, BX647367

Consensus CDS

CCDS10643.1

UniProtKB/Swiss-Prot

O14983

UniProtKB/TrEMBL

Q7Z675

Related

ENSP00000349595, OTTHUMP00000162561, ENST00000357084, OTTHUMT00000254686

Conserved Domains (6) summary

TIGR01116
Location:53 – 989
Blast Score: 4083

ATPase-IIA1_Ca; sarco/endoplasmic reticulum calcium-translocating P-type ATPase

pfam00122
Location:101 – 341
Blast Score: 527

E1-E2_ATPase; E1-E2 ATPase

pfam00689
Location:784 – 987
Blast Score: 385

Cation_ATPase_C; Cation transporting ATPase, C-terminus

pfam13246
Location:418 – 528
Blast Score: 208

Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit

cl02930
Location:4 – 72
Blast Score: 222

Cation_ATPase_N; Cation transporter/ATPase, N-terminus

cl11391
Location:598 – 712
Blast Score: 104

HAD_like; Haloacid Dehalogenase-like Hydrolases

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000016.9 Reference GRCh37.p5 Primary Assembly

Range

28889809..28915830

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000148.1 Alternate HuRef

Range

26757144..26783172

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC109460.3 (20394..37060)	None
genomic	AC133550.2	None
genomic	CH471267.1	EAW52006.1
genomic	HB975088.1	CBG22289.1
genomic	HD032498.1	CBV35450.1
genomic	U96773.1	AAB53112.1
		AAB53113.1
genomic	U96781.1	AAB53112.1
		AAB53113.1
mRNA	AK092691.1	BAG52597.1
mRNA	AK128456.1	BAG54679.1
mRNA	AK291314.1	BAF84003.1
mRNA	BC037354.1	AAH37354.1
mRNA	BC104452.2	None
mRNA	BC104453.2	None
mRNA	BU737186.1	None
mRNA	BX537389.1	CAD97631.1
mRNA	BX537784.1	CAD97841.1
mRNA	BX647365.1	None
mRNA	BX647366.1	None
mRNA	BX647367.1	None
mRNA	BX647368.1	None
mRNA	BX648544.1	None
mRNA	BX649072.1	None
other-genetic	BC148653.1	AAI48654.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
O14983.1	GenPept	UniProtKB/Swiss-Prot:O14983
Q7Z675	GenPept	UniProtKB/TrEMBL:Q7Z675
Q7Z6E5	GenPept	UniProtKB/TrEMBL:Q7Z6E5
Q8N3X5	GenPept	UniProtKB/TrEMBL:Q8N3X5