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UniProtKB - Q16720 (AT2B3_HUMAN)

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Protein

Plasma membrane calcium-transporting ATPase 3

Gene

ATP2B3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell.

Catalytic activityi

ATP + H2O + Ca2+(Side 1) = ADP + phosphate + Ca2+(Side 2).

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei4734-aspartylphosphate intermediateBy similarity1
Metal bindingi794MagnesiumBy similarity1
Metal bindingi798MagnesiumBy similarity1

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionCalmodulin-binding, Hydrolase
Biological processCalcium transport, Ion transport, Transport
LigandATP-binding, Calcium, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi3.6.3.8 2681
ReactomeiR-HSA-418359 Reduction of cytosolic Ca++ levels
R-HSA-5578775 Ion homeostasis
R-HSA-936837 Ion transport by P-type ATPases

Names & Taxonomyi

Protein namesi
Recommended name:
Plasma membrane calcium-transporting ATPase 3 (EC:3.6.3.8)
Short name:
PMCA3
Alternative name(s):
Plasma membrane calcium ATPase isoform 3
Plasma membrane calcium pump isoform 3
Gene namesi
Name:ATP2B3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000067842.17
HGNCiHGNC:816 ATP2B3
MIMi300014 gene
neXtProtiNX_Q16720

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 97CytoplasmicSequence analysisAdd BLAST97
Transmembranei98 – 118HelicalSequence analysisAdd BLAST21
Topological domaini119 – 155ExtracellularSequence analysisAdd BLAST37
Transmembranei156 – 176HelicalSequence analysisAdd BLAST21
Topological domaini177 – 364CytoplasmicSequence analysisAdd BLAST188
Transmembranei365 – 384HelicalSequence analysisAdd BLAST20
Topological domaini385 – 417ExtracellularSequence analysisAdd BLAST33
Transmembranei418 – 435HelicalSequence analysisAdd BLAST18
Topological domaini436 – 849CytoplasmicSequence analysisAdd BLAST414
Transmembranei850 – 869HelicalSequence analysisAdd BLAST20
Topological domaini870 – 879ExtracellularSequence analysis10
Transmembranei880 – 900HelicalSequence analysisAdd BLAST21
Topological domaini901 – 920CytoplasmicSequence analysisAdd BLAST20
Transmembranei921 – 943HelicalSequence analysisAdd BLAST23
Topological domaini944 – 961ExtracellularSequence analysisAdd BLAST18
Transmembranei962 – 983HelicalSequence analysisAdd BLAST22
Topological domaini984 – 1002CytoplasmicSequence analysisAdd BLAST19
Transmembranei1003 – 1024HelicalSequence analysisAdd BLAST22
Topological domaini1025 – 1034ExtracellularSequence analysis10
Transmembranei1035 – 1056HelicalSequence analysisAdd BLAST22
Topological domaini1057 – 1220CytoplasmicSequence analysisAdd BLAST164

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia, X-linked 1 (SCAX1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSpinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAX1 is characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia.
See also OMIM:302500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0693081107G → D in SCAX1; the mutant protein is expressed at the plasma membrane but shows impaired extrusion of intracellular calcium with prolonged retention of cytoplasmic calcium compared to wild-type under physiologic conditions. 1 PublicationCorresponds to variant dbSNP:rs397514619EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNETi492
MalaCardsiATP2B3
MIMi302500 phenotype
OpenTargetsiENSG00000067842
Orphaneti85142 Aldosterone-producing adenoma
314978 X-linked non progressive cerebellar ataxia
PharmGKBiPA25109

Polymorphism and mutation databases

BioMutaiATP2B3
DMDMi116241261

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000462181 – 1220Plasma membrane calcium-transporting ATPase 3Add BLAST1220

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei8PhosphoserineBy similarity1
Modified residuei1079PhosphothreonineBy similarity1
Modified residuei1113Phosphothreonine; by PKCBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ16720
MaxQBiQ16720
PaxDbiQ16720
PeptideAtlasiQ16720
PRIDEiQ16720
ProteomicsDBi61042
61043 [Q16720-2]
61044 [Q16720-3]
61045 [Q16720-4]
61046 [Q16720-5]
61047 [Q16720-6]
61048 [Q16720-7]
61049 [Q16720-8]

PTM databases

iPTMnetiQ16720
PhosphoSitePlusiQ16720
SwissPalmiQ16720

Expressioni

Tissue specificityi

Highly expressed in the cerebellum, particulary in the presynaptic terminals of parallel fibers-Purkinje neurons. Isoform XE and isoform XB are the most abundant isoforms and are detected at low levels in brain and fetal skeletal muscle. The other isoforms are only found at lower levels and not in fetal tissues.1 Publication

Gene expression databases

BgeeiENSG00000067842
CleanExiHS_ATP2B3
GenevisibleiQ16720 HS

Organism-specific databases

HPAiHPA001583

Interactioni

Subunit structurei

Interacts with PDZD11.1 Publication

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi106982, 44 interactors
IntActiQ16720, 2 interactors
MINTiQ16720
STRINGi9606.ENSP00000263519

Structurei

3D structure databases

ProteinModelPortaliQ16720
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1097 – 1114Calmodulin-binding subdomain ABy similarityAdd BLAST18
Regioni1115 – 1124Calmodulin-binding subdomain BBy similarity10

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi297 – 300Poly-Glu4
Compositional biasi1174 – 1179Poly-Pro6

Sequence similaritiesi

Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily. [View classification]Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0204 Eukaryota
ENOG410XNNC LUCA
GeneTreeiENSGT00510000046331
HOGENOMiHOG000265623
HOVERGENiHBG061286
InParanoidiQ16720
KOiK05850
OMAiSNPIFCT
OrthoDBiEOG091G057D
PhylomeDBiQ16720
TreeFamiTF300330

Family and domain databases

Gene3Di3.40.1110.10, 1 hit
3.40.50.1000, 2 hits
InterProiView protein in InterPro
IPR030325 ATP2B3
IPR022141 ATP_Ca_trans_C
IPR006068 ATPase_P-typ_cation-transptr_C
IPR004014 ATPase_P-typ_cation-transptr_N
IPR023299 ATPase_P-typ_cyto_dom_N
IPR018303 ATPase_P-typ_P_site
IPR023298 ATPase_P-typ_TM_dom_sf
IPR008250 ATPase_P-typ_transduc_dom_A_sf
IPR036412 HAD-like_sf
IPR023214 HAD_sf
IPR006408 P-type_ATPase_IIB
IPR001757 P_typ_ATPase
PANTHERiPTHR24093:SF284 PTHR24093:SF284, 1 hit
PfamiView protein in Pfam
PF12424 ATP_Ca_trans_C, 1 hit
PF00689 Cation_ATPase_C, 1 hit
PF00690 Cation_ATPase_N, 1 hit
SMARTiView protein in SMART
SM00831 Cation_ATPase_N, 1 hit
SUPFAMiSSF56784 SSF56784, 2 hits
SSF81653 SSF81653, 1 hit
SSF81660 SSF81660, 1 hit
SSF81665 SSF81665, 3 hits
TIGRFAMsiTIGR01517 ATPase-IIB_Ca, 1 hit
TIGR01494 ATPase_P-type, 3 hits
PROSITEiView protein in PROSITE
PS00154 ATPASE_E1_E2, 1 hit

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket

Note: There is a combination of two alternatively spliced domains at N-terminal site A (X and Z) and at C-terminal site C (A, B, E and G). The splice sites have mostly been studied independently. Full isoforms so far detected are isoform XA and isoform XB. Experimental confirmation may be lacking for some isoforms.
Isoform XB (identifier: Q16720-1) [UniParc]FASTAAdd to basket
Also known as: AIICI

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGDMANSSIE FHPKPQQQRD VPQAGGFGCT LAELRTLMEL RGAEALQKIE 
        60         70         80         90        100
EAYGDVSGLC RRLKTSPTEG LADNTNDLEK RRQIYGQNFI PPKQPKTFLQ 
       110        120        130        140        150
LVWEALQDVT LIILEVAAIV SLGLSFYAPP GEESEACGNV SGGAEDEGEA 
       160        170        180        190        200
EAGWIEGAAI LLSVICVVLV TAFNDWSKEK QFRGLQSRIE QEQKFTVIRN 
       210        220        230        240        250
GQLLQVPVAA LVVGDIAQVK YGDLLPADGV LIQANDLKID ESSLTGESDH 
       260        270        280        290        300
VRKSADKDPM LLSGTHVMEG SGRMVVTAVG VNSQTGIIFT LLGAGGEEEE 
       310        320        330        340        350
KKDKKGKQQD GAMESSQTKA KKQDGAVAME MQPLKSAEGG EMEEREKKKA 
       360        370        380        390        400
NAPKKEKSVL QGKLTKLAVQ IGKAGLVMSA ITVIILVLYF VIETFVVEGR 
       410        420        430        440        450
TWLAECTPVY VQYFVKFFII GVTVLVVAVP EGLPLAVTIS LAYSVKKMMK 
       460        470        480        490        500
DNNLVRHLDA CETMGNATAI CSDKTGTLTT NRMTVVQSYL GDTHYKEIPA 
       510        520        530        540        550
PSALTPKILD LLVHAISINS AYTTKILPPE KEGALPRQVG NKTECALLGF 
       560        570        580        590        600
VLDLKRDFQP VREQIPEDKL YKVYTFNSVR KSMSTVIRMP DGGFRLFSKG 
       610        620        630        640        650
ASEILLKKCT NILNSNGELR GFRPRDRDDM VRKIIEPMAC DGLRTICIAY 
       660        670        680        690        700
RDFSAGQEPD WDNENEVVGD LTCIAVVGIE DPVRPEVPEA IRKCQRAGIT 
       710        720        730        740        750
VRMVTGDNIN TARAIAAKCG IIQPGEDFLC LEGKEFNRRI RNEKGEIEQE 
       760        770        780        790        800
RLDKVWPKLR VLARSSPTDK HTLVKGIIDS TTGEQRQVVA VTGDGTNDGP 
       810        820        830        840        850
ALKKADVGFA MGIAGTDVAK EASDIILTDD NFTSIVKAVM WGRNVYDSIS 
       860        870        880        890        900
KFLQFQLTVN VVAVIVAFTG ACITQDSPLK AVQMLWVNLI MDTFASLALA 
       910        920        930        940        950
TEPPTESLLL RKPYGRDKPL ISRTMMKNIL GHAVYQLAII FTLLFVGELF 
       960        970        980        990       1000
FDIDSGRNAP LHSPPSEHYT IIFNTFVMMQ LFNEINARKI HGERNVFDGI 
      1010       1020       1030       1040       1050
FSNPIFCTIV LGTFGIQIVI VQFGGKPFSC SPLSTEQWLW CLFVGVGELV 
      1060       1070       1080       1090       1100
WGQVIATIPT SQLKCLKEAG HGPGKDEMTD EELAEGEEEI DHAERELRRG 
      1110       1120       1130       1140       1150
QILWFRGLNR IQTQIRVVKA FRSSLYEGLE KPESKTSIHN FMATPEFLIN 
      1160       1170       1180       1190       1200
DYTHNIPLID DTDVDENEER LRAPPPPSPN QNNNAIDSGI YLTTHVTKSA 
      1210       1220
TSSVFSSSPG SPLHSVETSL
Length:1,220
Mass (Da):134,197
Last modified:October 17, 2006 - v3
Checksum:i03B2BA8A0A33B193
GO
Isoform XA (identifier: Q16720-2) [UniParc]FASTAAdd to basket
Also known as: AIICII

The sequence of this isoform differs from the canonical sequence as follows:
     1115-1220: IRVVKAFRSS...SPLHSVETSL → MEVVSTFKRS...AGNPGGESVP

Show »
Length:1,173
Mass (Da):128,545
Checksum:iEF3ACDF02DF40B8C
GO
Isoform ZA (identifier: Q16720-3) [UniParc]FASTAAdd to basket
Also known as: AICII

The sequence of this isoform differs from the canonical sequence as follows:
     306-319: Missing.
     1115-1220: IRVVKAFRSS...SPLHSVETSL → MEVVSTFKRS...AGNPGGESVP

Show »
Length:1,159
Mass (Da):127,068
Checksum:iD092487DFC13E8A3
GO
Isoform ZB (identifier: Q16720-4) [UniParc]FASTAAdd to basket
Also known as: AICI

The sequence of this isoform differs from the canonical sequence as follows:
     306-319: Missing.

Show »
Length:1,206
Mass (Da):132,721
Checksum:i2366490D5E398C08
GO
Isoform XE (identifier: Q16720-5) [UniParc]FASTAAdd to basket
Also known as: AIICV

The sequence of this isoform differs from the canonical sequence as follows:
     1115-1220: IRVVKAFRSS...SPLHSVETSL → MEVVSTFKRS...NPTSAAGSES

Show »
Length:1,168
Mass (Da):128,110
Checksum:i79D7ED01B8F1BA88
GO
Isoform ZE (identifier: Q16720-6) [UniParc]FASTAAdd to basket
Also known as: AICV

The sequence of this isoform differs from the canonical sequence as follows:
     306-319: Missing.
     1115-1220: IRVVKAFRSS...SPLHSVETSL → MEVVSTFKRS...NPTSAAGSES

Show »
Length:1,154
Mass (Da):126,634
Checksum:i6E34C22E92BEAE95
GO
Isoform XG (identifier: Q16720-7) [UniParc]FASTAAdd to basket
Also known as: AIICVII

The sequence of this isoform differs from the canonical sequence as follows:
     1115-1220: IRVVKAFRSS...SPLHSVETSL → VCWDGKKMLRTTEVG

Show »
Length:1,129
Mass (Da):124,236
Checksum:i17805052F1230AEF
GO
Isoform ZG (identifier: Q16720-8) [UniParc]FASTAAdd to basket
Also known as: AICVII

The sequence of this isoform differs from the canonical sequence as follows:
     306-319: Missing.
     1115-1220: IRVVKAFRSS...SPLHSVETSL → VCWDGKKMLRTTEVG

Show »
Length:1,115
Mass (Da):122,760
Checksum:i46F7F01999CFA318
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti587I → V in AAB09762 (PubMed:8765088).Curated1
Sequence conflicti587I → V in AAB38530 (PubMed:8765088).Curated1
Sequence conflicti654S → Y in AAB09762 (PubMed:8765088).Curated1
Sequence conflicti654S → Y in AAB38530 (PubMed:8765088).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027928198I → M. Corresponds to variant dbSNP:rs2269409Ensembl.1
Natural variantiVAR_0693081107G → D in SCAX1; the mutant protein is expressed at the plasma membrane but shows impaired extrusion of intracellular calcium with prolonged retention of cytoplasmic calcium compared to wild-type under physiologic conditions. 1 PublicationCorresponds to variant dbSNP:rs397514619EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_000392306 – 319Missing in isoform ZA, isoform ZB, isoform ZE and isoform ZG. CuratedAdd BLAST14
Alternative sequenceiVSP_0003931115 – 1220IRVVK…VETSL → MEVVSTFKRSGSVQGAVRRR SSVLSQLHDVTNLSTPTHAI LSAANPTSAAGNPGGESVP in isoform XA and isoform ZA. 1 PublicationAdd BLAST106
Alternative sequenceiVSP_0003941115 – 1220IRVVK…VETSL → MEVVSTFKRSGSVQGAVRRR SSVLSQLHDVTNLSTPTHAI LSAANPTSAAGSES in isoform XE and isoform ZE. CuratedAdd BLAST106
Alternative sequenceiVSP_0003951115 – 1220IRVVK…VETSL → VCWDGKKMLRTTEVG in isoform XG and isoform ZG. CuratedAdd BLAST106

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U57971 mRNA Translation: AAB09762.1
U60414 mRNA Translation: AAB38530.1
AH006061 Genomic DNA Translation: AAC15078.1
CH471172 Genomic DNA Translation: EAW72859.1
U82695 Genomic DNA No translation available.
U15689 mRNA Translation: AAA60986.1
U15690 mRNA Translation: AAA60987.1
CCDSiCCDS14722.1 [Q16720-2]
CCDS35440.1 [Q16720-1]
RefSeqiNP_001001344.1, NM_001001344.2 [Q16720-1]
NP_068768.2, NM_021949.3 [Q16720-2]
XP_005274747.1, XM_005274690.3 [Q16720-1]
XP_005274748.1, XM_005274691.3 [Q16720-4]
XP_005274749.1, XM_005274692.3 [Q16720-2]
UniGeneiHs.533956
Hs.658008

Genome annotation databases

EnsembliENST00000263519; ENSP00000263519; ENSG00000067842 [Q16720-1]
ENST00000349466; ENSP00000343886; ENSG00000067842 [Q16720-1]
ENST00000359149; ENSP00000352062; ENSG00000067842 [Q16720-2]
ENST00000370186; ENSP00000359205; ENSG00000067842 [Q16720-3]
ENST00000393842; ENSP00000377425; ENSG00000067842 [Q16720-6]
GeneIDi492
KEGGihsa:492
UCSCiuc004fhs.2 human [Q16720-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAT2B3_HUMAN
AccessioniPrimary (citable) accession number: Q16720
Secondary accession number(s): B7WNR8
, B7WNY5, Q12995, Q16858
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 17, 2006
Last modified: June 20, 2018
This is version 181 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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