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ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 [ Homo sapiens (human) ]

Gene ID: 487, updated on 1-Aug-2020

Summary

Official Symbol
ATP2A1provided by HGNC
Official Full Name
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1provided by HGNC
Primary source
HGNC:HGNC:811
See related
Ensembl:ENSG00000196296 MIM:108730
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]
Expression
Biased expression in esophagus (RPKM 15.8), prostate (RPKM 13.1) and 1 other tissue See more
Orthologs

Genomic context

See ATP2A1 in Genome Data Viewer
Location:
16p11.2
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (28878488..28904511)
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 Sharpr-MPRA regulatory region 4004 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 2 interacting protein Neighboring gene microRNA 4517

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Brody myopathy
MedGen: C1832918 OMIM: 601003 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium-dependent ATPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium-transporting ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
proton-exporting ATPase activity, phosphorylative mechanism IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
apoptotic mitochondrial changes IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium ion import IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium ion import into sarcoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
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 
negative regulation of endoplasmic reticulum calcium ion concentration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of calcium ion import into sarcoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of calcium-transporting ATPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cardiac muscle cell contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
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 
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
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 
Component Evidence Code Pubs
calcium channel complex IC
Inferred by Curator
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
platelet dense tubular network membrane TAS
Traceable Author Statement
more info
 
sarcoplasmic reticulum NAS
Non-traceable Author Statement
more info
PubMed 
sarcoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcoplasmic reticulum membrane IC
Inferred by Curator
more info
PubMed 
sarcoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
sarcoplasmic/endoplasmic reticulum calcium ATPase 1
Names
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
SR Ca(2+)-ATPase 1
calcium pump 1
calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform
endoplasmic reticulum class 1/2 Ca(2+) ATPase
NP_001273004.1
NP_004311.1
NP_775293.1

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

  1. NG_023327.1 RefSeqGene

    Range
    5001..31024
    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 identical proteins and their annotated locations for 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
    ENSP00000443101.1, ENST00000536376.5
    Conserved Domains (5) summary
    TIGR01116
    Location:1864
    ATPase-IIA1_Ca; sarco/endoplasmic reticulum calcium-translocating P-type ATPase
    pfam00122
    Location:3215
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:659862
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam12710
    Location:486587
    HAD; haloacid dehalogenase-like hydrolase
    pfam13246
    Location:294403
    Cation_ATPase; Cation transport ATPase (P-type)
  2. NM_004320.6NP_004311.1  sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform a

    See identical proteins and their annotated locations for 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
    ENSP00000378879.4, ENST00000395503.8
    Conserved Domains (6) summary
    TIGR01116
    Location:53989
    ATPase-IIA1_Ca; sarco/endoplasmic reticulum calcium-translocating P-type ATPase
    pfam00122
    Location:93340
    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
    pfam12710
    Location:611712
    HAD; haloacid dehalogenase-like hydrolase
    pfam13246
    Location:419528
    Cation_ATPase; Cation transport ATPase (P-type)
  3. NM_173201.4NP_775293.1  sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform b

    See identical proteins and their annotated locations for 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)
    AC109460, AK291314, BX537784, BX647367
    Consensus CDS
    CCDS10643.1
    UniProtKB/Swiss-Prot
    O14983
    UniProtKB/TrEMBL
    Q7Z675
    Related
    ENSP00000349595.3, ENST00000357084.7
    Conserved Domains (6) summary
    TIGR01116
    Location:53989
    ATPase-IIA1_Ca; sarco/endoplasmic reticulum calcium-translocating P-type ATPase
    pfam00122
    Location:93340
    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
    pfam12710
    Location:611712
    HAD; haloacid dehalogenase-like hydrolase
    pfam13246
    Location:419528
    Cation_ATPase; Cation transport ATPase (P-type)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    28878488..28904511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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