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ATP2B1 ATPase plasma membrane Ca2+ transporting 1 [ Homo sapiens (human) ]

Gene ID: 490, updated on 24-Nov-2020

Summary

Official Symbol
ATP2B1provided by HGNC
Official Full Name
ATPase plasma membrane Ca2+ transporting 1provided by HGNC
Primary source
HGNC:HGNC:814
See related
Ensembl:ENSG00000070961 MIM:108731
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
PMCA1; PMCA1kb
Summary
The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in brain (RPKM 34.3), bone marrow (RPKM 16.4) and 23 other tissues See more
Orthologs

Genomic context

See ATP2B1 in Genome Data Viewer
Location:
12q21.33
Exon count:
24
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (89588049..89709366, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (89981826..90103130, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene POC1 centriolar protein B Neighboring gene POC1B-GALNT4 readthrough Neighboring gene POC1B antisense RNA 1 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 4 Neighboring gene uncharacterized LOC107984543 Neighboring gene ATP2B1 antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 365 Neighboring gene mitochondrial ribosomal protein L2 pseudogene 1

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
A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.
GeneReviews: Not available
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
GeneReviews: Not available
Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.
GeneReviews: Not available
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
GeneReviews: Not available
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
GeneReviews: Not available
Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
GeneReviews: Not available
Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci.
GeneReviews: Not available
Genome-wide association study of blood pressure and hypertension.
GeneReviews: Not available
Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpu vpu HIV-1 Vpu is identified to have a physical interaction with ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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 IDA
Inferred from Direct Assay
more info
PubMed 
ATPase-coupled cation transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
PDZ domain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
calcium transmembrane transporter activity, phosphorylative mechanism IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration IDA
Inferred from Direct Assay
more info
PubMed 
calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration IMP
Inferred from Mutant Phenotype
more info
PubMed 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
aging IEA
Inferred from Electronic Annotation
more info
 
brain development IEA
Inferred from Electronic Annotation
more info
 
calcium ion export across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cellular calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to corticosterone stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to vitamin D IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
negative regulation of cytokine production ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cytosolic calcium ion concentration IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cytosolic calcium ion concentration ISS
Inferred from Sequence or Structural Similarity
more info
 
neural retina development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of bone mineralization ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of calcium ion transport ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of blood pressure ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
regulation of cellular response to insulin stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cytosolic calcium ion concentration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cytosolic calcium ion concentration IDA
Inferred from Direct Assay
more info
PubMed 
regulation of presynaptic cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
regulation of vascular associated smooth muscle contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
response to cold IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
GABA-ergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
GABA-ergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasmic side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
dendritic spine membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
immunological synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of presynaptic active zone membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane HDA PubMed 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
plasma membrane calcium-transporting ATPase 1
Names
ATPase, Ca++ transporting, plasma membrane 1
plasma membrane calcium pump
NP_001001323.1
NP_001353449.1
NP_001353450.1
NP_001353451.1
NP_001353452.1
NP_001353453.1
NP_001353454.1
NP_001353455.1
NP_001353456.1
NP_001353457.1
NP_001353458.1
NP_001353459.1
NP_001353460.1
NP_001353461.1
NP_001673.2
XP_016874846.1
XP_024304759.1
XP_024304761.1

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_029485.2 RefSeqGene

    Range
    4988..126305
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001001323.2NP_001001323.1  plasma membrane calcium-transporting ATPase 1 isoform 1a

    See identical proteins and their annotated locations for NP_001001323.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), as well as variant 6, encodes isoform 1a, also known as hPMCA1a.
    Source sequence(s)
    AC009522, AC025034, AC068641
    Consensus CDS
    CCDS41817.1
    UniProtKB/Swiss-Prot
    P20020
    Related
    ENSP00000352054.3, ENST00000359142.7
    Conserved Domains (2) summary
    TIGR01517
    Location:151064
    ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
    pfam12424
    Location:11031142
    ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
  2. NM_001366520.1NP_001353449.1  plasma membrane calcium-transporting ATPase 1 isoform 1b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), as well as variants 2, 4, and 5, encodes isoform 1b.
    Source sequence(s)
    AC009522, AC025034, AC068641
    Conserved Domains (2) summary
    TIGR01517
    Location:151064
    ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
    pfam12424
    Location:11031149
    ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
  3. NM_001366521.1NP_001353450.1  plasma membrane calcium-transporting ATPase 1 isoform 1b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variants 2, 3, and 5, encodes isoform 1.
    Source sequence(s)
    AC009522, AC025034, AC068641
    Related
    ENSP00000392043.3, ENST00000428670.7
    Conserved Domains (2) summary
    TIGR01517
    Location:151064
    ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
    pfam12424
    Location:11031149
    ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
  4. NM_001366522.1NP_001353451.1  plasma membrane calcium-transporting ATPase 1 isoform 1b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 2, 3, and 4, encodes isoform 1b.
    Source sequence(s)
    AC009522, AC025034, AC068641
    Conserved Domains (2) summary
    TIGR01517
    Location:151064
    ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
    pfam12424
    Location:11031149
    ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
  5. NM_001366523.1NP_001353452.1  plasma membrane calcium-transporting ATPase 1 isoform 1a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variant 1, encodes isoform 1a.
    Source sequence(s)
    AC009522, AC025034, AC068641
    Conserved Domains (2) summary
    TIGR01517
    Location:151064
    ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
    pfam12424
    Location:11031142
    ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
  6. NM_001366524.1NP_001353453.1  plasma membrane calcium-transporting ATPase 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variant 8, encodes isoform 2.
    Source sequence(s)
    AC009522, AC025034, AC068641
    Conserved Domains (2) summary
    TIGR01517
    Location:151064
    ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
    pfam12424
    Location:11031178
    ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
  7. NM_001366525.1NP_001353454.1  plasma membrane calcium-transporting ATPase 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variant 7, encodes isoform 2.
    Source sequence(s)
    AC009522, AC025034, AC068641
    Conserved Domains (2) summary
    TIGR01517
    Location:151064
    ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
    pfam12424
    Location:11031178
    ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
  8. NM_001366526.1NP_001353455.1  plasma membrane calcium-transporting ATPase 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variant 10, encodes isoform 3.
    Source sequence(s)
    AC009522, AC025034, AC068641
    Conserved Domains (2) summary
    TIGR01517
    Location:151064
    ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
    pfam12424
    Location:11031142
    ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
  9. NM_001366527.1NP_001353456.1  plasma membrane calcium-transporting ATPase 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variant 9, encodes isoform 3.
    Source sequence(s)
    AC009522, AC025034, AC068641
    Conserved Domains (2) summary
    TIGR01517
    Location:151064
    ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
    pfam12424
    Location:11031142
    ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
  10. NM_001366528.1NP_001353457.1  plasma membrane calcium-transporting ATPase 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC009522, AC025034, AC068641
    Conserved Domains (2) summary
    pfam12424
    Location:10671106
    ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
    cl27747
    Location:151023
    E1-E2_ATPase; E1-E2 ATPase
  11. NM_001366529.1NP_001353458.1  plasma membrane calcium-transporting ATPase 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC009522, AC025034, AC068641
    Conserved Domains (2) summary
    pfam12424
    Location:10671106
    ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
    cl27747
    Location:151023
    E1-E2_ATPase; E1-E2 ATPase
  12. NM_001366530.1NP_001353459.1  plasma membrane calcium-transporting ATPase 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC009522, AC025034, AC068641
    Conserved Domains (2) summary
    TIGR01517
    Location:15998
    ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
    pfam12424
    Location:10371076
    ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
  13. NM_001366531.1NP_001353460.1  plasma membrane calcium-transporting ATPase 1 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14), as well as variant 15, encodes isoform 7.
    Source sequence(s)
    AC009522, AC025034, AC068641
    Conserved Domains (2) summary
    pfam12424
    Location:916955
    ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
    cl27747
    Location:15877
    E1-E2_ATPase; E1-E2 ATPase
  14. NM_001366532.1NP_001353461.1  plasma membrane calcium-transporting ATPase 1 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15), as well as variant 14, encodes isoform 7.
    Source sequence(s)
    AC009522, AC025034, AC068641
    Conserved Domains (2) summary
    pfam12424
    Location:916955
    ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
    cl27747
    Location:15877
    E1-E2_ATPase; E1-E2 ATPase
  15. NM_001682.3NP_001673.2  plasma membrane calcium-transporting ATPase 1 isoform 1b

    See identical proteins and their annotated locations for NP_001673.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a segment in the coding region, which leads to a frameshift, compared to variant 1. The resulting isoform (1b) contains a longer and distinct C-terminus compared to isoform 1a. Variants 2, 3, 4, and 5 all encode the same isoform (1b).
    Source sequence(s)
    AC009522, AC025034, AC068641
    Consensus CDS
    CCDS9035.1
    UniProtKB/Swiss-Prot
    P20020
    UniProtKB/TrEMBL
    A0A024RBC7
    Related
    ENSP00000261173.2, ENST00000261173.6
    Conserved Domains (2) summary
    TIGR01517
    Location:151064
    ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
    pfam12424
    Location:11031149
    ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    89588049..89709366 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448991.1XP_024304759.1  plasma membrane calcium-transporting ATPase 1 isoform X4

    Conserved Domains (2) summary
    pfam12424
    Location:10671113
    ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
    cl27747
    Location:151023
    E1-E2_ATPase; E1-E2 ATPase
  2. XM_017019357.2XP_016874846.1  plasma membrane calcium-transporting ATPase 1 isoform X3

    Conserved Domains (7) summary
    TIGR01517
    Location:151023
    ATPase-IIB_Ca; plasma-membrane calcium-translocating P-type ATPase
    pfam00122
    Location:195464
    E1-E2_ATPase; E1-E2 ATPase
    pfam00689
    Location:8801026
    Cation_ATPase_C; Cation transporting ATPase, C-terminus
    pfam00690
    Location:51121
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    pfam12424
    Location:10671143
    ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
    pfam12710
    Location:687806
    HAD; haloacid dehalogenase-like hydrolase
    pfam13246
    Location:525611
    Cation_ATPase; Cation transport ATPase (P-type)
  3. XM_024448993.1XP_024304761.1  plasma membrane calcium-transporting ATPase 1 isoform X6

    Conserved Domains (2) summary
    pfam12424
    Location:10671106
    ATP_Ca_trans_C; Plasma membrane calcium transporter ATPase C terminal
    cl27747
    Location:151023
    E1-E2_ATPase; E1-E2 ATPase

RNA

  1. XR_002957330.1 RNA Sequence

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