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ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 [ Homo sapiens (human) ]

Gene ID: 487, updated on 5-Oct-2014
Official Symbol
ATP2A1provided by HGNC
Official Full Name
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1provided by HGNC
Primary source
HGNC: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 three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]
See ATP2A1 in Epigenomics, MapViewer
Location:
16p12.1
Exon count:
24
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 16 NC_000016.10 (28878488..28904509)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (28889192..28915830)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene microRNA 4721 Neighboring gene Tu translation elongation factor, mitochondrial Neighboring gene SH2B adaptor protein 1 Neighboring gene ATP2A1 antisense RNA 1 Neighboring gene rabaptin, RAB GTPase binding effector protein 2 Neighboring gene CD19 molecule Neighboring gene nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein Neighboring gene microRNA 4517

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Brody myopathy
MedGen: C1832918 OMIM: 601003 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
NHGRI GWA Catalog
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  • Alzheimer's disease, conserved biosystem (from KEGG)
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  • Alzheimers Disease, organism-specific biosystem (from WikiPathways)
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  • Calcium signaling pathway, organism-specific biosystem (from KEGG)
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  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
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  • Pancreatic secretion, organism-specific biosystem (from KEGG)
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    Platelet homeostasis, organism-specific biosystemUnder normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhesion and activation, suppresses coagulation, enhances fibrin cleavage and is anti-inflammatory in charact...
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  • Pre-NOTCH Processing in Golgi, organism-specific biosystem (from REACTOME)
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  • Reduction of cytosolic Ca++ levels, organism-specific biosystem (from REACTOME)
    Reduction of cytosolic Ca++ levels, organism-specific biosystemDuring steady state conditions, cytoplasmic [Ca2+] is reduced by the accumulation of Ca2+ in intracellular stores and Ca2+ extrusion.
  • Signal Transduction, organism-specific biosystem (from REACTOME)
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  • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

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 
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 catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
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 transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
calcium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress 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 
metabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of endoplasmic reticulum calcium ion concentration 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 endoplasmic reticulum calcium ion concentration 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 
positive regulation of mitochondrial 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 component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
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 
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_001273004.1
NP_004311.1
NP_775293.1

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

  1. NG_023327.1 

    Range
    5001..31022
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001286075.1NP_001273004.1  sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform c

    See proteins identical to NP_001273004.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) differs in the 5' UTR and coding sequence compared to variant a. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AC133550, AK128456, AL706356, BX537784
    Consensus CDS
    CCDS66997.1
    UniProtKB/Swiss-Prot
    O14983
    UniProtKB/TrEMBL
    Q7Z675
    Related
    ENSP00000443101, OTTHUMP00000254572, ENST00000536376, OTTHUMT00000432683
    Conserved Domains (5) summary
    cd01427
    Location:486595
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    TIGR01116
    Location:1864
    ATPase-IIA1_Ca; sarco/endoplasmic reticulum calcium-translocating P-type ATPase
    pfam00122
    Location:3216
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:659862
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam13246
    Location:293403
    Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
  2. NM_004320.4NP_004311.1  sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform a

    See proteins identical to NP_004311.1

    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
    cd01427
    Location:611720
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    TIGR01116
    Location:53989
    ATPase-IIA1_Ca; sarco/endoplasmic reticulum calcium-translocating P-type ATPase
    pfam00122
    Location:93341
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:784987
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam00690
    Location:472
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    pfam13246
    Location:418528
    Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
  3. NM_173201.3NP_775293.1  sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform b

    See proteins identical to NP_775293.1

    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
    cd01427
    Location:611720
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    TIGR01116
    Location:53989
    ATPase-IIA1_Ca; sarco/endoplasmic reticulum calcium-translocating P-type ATPase
    pfam00122
    Location:93341
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:784987
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam00690
    Location:472
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    pfam13246
    Location:418528
    Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 

    Range
    28878488..28904509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000148.1 

    Range
    26757144..26783172
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 

    Range
    29901645..29927644
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)