Property Summary

NCBI Gene PubMed Count 51
PubMed Score 192.30
PubTator Score 131.09

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Heart failure 80
Disease Target Count P-value
glioblastoma 5572 1.6e-06
atypical teratoid / rhabdoid tumor 4369 1.9e-05
medulloblastoma, large-cell 6234 3.4e-05
dermatomyositis 966 4.7e-03
Disease Target Count Z-score Confidence
Obesity 616 0.0 1.0
Disease Target Count
Brody myopathy 3

Expression

  Differential Expression (4)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.100 1.9e-05
glioblastoma 1.100 1.6e-06
medulloblastoma, large-cell 1.800 3.4e-05
dermatomyositis -1.300 4.7e-03

 OMIM Phenotype (1)

Protein-protein Interaction (2)

Gene RIF (27)

PMID Text
27055500 CAPN3 deficiency leads to degradation of SERCA proteins and Ca2+ dysregulation in the skeletal muscle.
27033604 The sphingolipid sphingosine increases the [Ca(2+)]i by inhibiting the sarco(endo)plasmic reticulum Ca(2+)-ATPase (SERCA), in a similar manner to thapsigargin (Tg), a specific inhibitor of this Ca(2+) pump.
25875358 Formalin evokes calcium transients from the endoplasmatic reticulum via SERCA1-dependent, TRPA1-independent mechanism that may underlie formaldehyde-induced pan-neuronal excitation and subsequent inflammation.
25487304 Thus the human SERCA1b has a different expression pattern from that of rodents and it is associated with DM2.
25074938 We conclude that PLB C-terminal residues are critical for localization, oligomerization, and regulatory function. In particular, the PLB C terminus is an important determinant of the quaternary structure of the SERCA regulatory complex.
23911890 We performed a detailed study of SERCA1 protein expression in muscle of patients with BD and BS, and evaluated the alternative splicing of SERCA1 in primary cultures of normal human muscle
23888875 Aberrant splicing of SERCA1 may alter intracellular Ca(2+) signalling in myotonic dystrophy 1 and 2 myotubes. The differing dysregulation of intracellular Ca(2+) handling in DM1 and DM2 may explain their distinct sarcolemmal hyperexcitabilities.
22609207 These results indicate that PKC signaling is involved in the splicing of SERCA1 and provide new evidence for a link between alternative splicing and PKC signaling.
21576492 both topology and function of PLN are shaped by the interactions with lipids, which fine-tune the regulation of SERCA
19644701 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
19061639 The truncated variant of the sarcoendoplasmic reticulum Ca(2+)-ATPase 1 (S1T) amplifies endoplasmic reticulum stress through the PERK-eIF2alpha-ATF4-CHOP pathway.
18953100 the increase in mechanical efficiency of cycling occurring during first weeks of endurance training may be due to down-regulation of SERCA pumps
18947188 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.
17728322 Overexpression of the CUG repeat expansion of DMPK mRNA resulted in exclusion of exon 22 of SERCA1.
17010426 Our studies point to an important regulation of SERCA1b expression at the protein level and hints to a role in the growth of the developing muscle.
16933204 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.
16754798 Preload stimulates SERCA expression. BNP antagonizes this mechanism. Inhibition of cGMP-dependent protein kinase restored preload-dependent SERCA upregulation in the presence of recombinant human BNP.
16642550 a functional abnormality in SERCA1 may have a role in inferior oblique overaction, an ocular motor disorder
16410239 SERCA1, 2, and 3 sensitivity to thapsigargin is dependent on a phenylalanine 256 to valine mutation
16192278 The maximal turnover rates of the ATPase activity for SPCA1 isoforms were 4.7-6.4-fold lower than that of SERCA1a (lowest for the shortest SPCA1a isoform).
15972723 We suggest that aberrant splicing of SERCA1 mRNAs might contribute to impaired Ca2+ homeostasis in DM1 muscle
15767202 SERCA1 gene transfer increased fractional myocardial cell shortening (compared to LacZ) and accelerated relengthening kinetics.
15718407 The combination of these histological and immunoblot results is consistent with the hypothesis that diaphragm remodeling elicited by severe COPD is characterized by a fast-to-slow SERCA isoform transformation.
14638697 The coexistence of SERCA1 and -2, together with complex mixtures of MyHCs in most of the fibers provide the human EOMs with a unique molecular portfolio that allows a highly specific fine-tuning regimen of contraction and relaxation.
12975374 kinetic analysis of SERCA1 and SERCA2 isoforms and the effects of mutation
12692302 regulation by sarcolipin's involvement in binding to transmembrane helices alone or in association with phospholamban
12525698 Modeling of the inhibitory interaction of phospholamban with the Ca2+ ATPase.

AA Sequence

MEAAHAKTTEECLAYFGVSETTGLTPDQVKRNLEKYGLNELPAEEGKTLWELVIEQFEDLLVRILLLAAC      1 - 70
ISFVLAWFEEGEETITAFVEPFVILLILIANAIVGVWQERNAENAIEALKEYEPEMGKVYRADRKSVQRI     71 - 140
KARDIVPGDIVEVAVGDKVPADIRILAIKSTTLRVDQSILTGESVSVIKHTEPVPDPRAVNQDKKNMLFS    141 - 210
GTNIAAGKALGIVATTGVGTEIGKIRDQMAATEQDKTPLQQKLDEFGEQLSKVISLICVAVWLINIGHFN    211 - 280
DPVHGGSWFRGAIYYFKIAVALAVAAIPEGLPAVITTCLALGTRRMAKKNAIVRSLPSVETLGCTSVICS    281 - 350
DKTGTLTTNQMSVCKMFIIDKVDGDICLLNEFSITGSTYAPEGEVLKNDKPVRPGQYDGLVELATICALC    351 - 420
NDSSLDFNEAKGVYEKVGEATETALTTLVEKMNVFNTDVRSLSKVERANACNSVIRQLMKKEFTLEFSRD    421 - 490
RKSMSVYCSPAKSSRAAVGNKMFVKGAPEGVIDRCNYVRVGTTRVPLTGPVKEKIMAVIKEWGTGRDTLR    491 - 560
CLALATRDTPPKREEMVLDDSARFLEYETDLTFVGVVGMLDPPRKEVTGSIQLCRDAGIRVIMITGDNKG    561 - 630
TAIAICRRIGIFGENEEVADRAYTGREFDDLPLAEQREACRRACCFARVEPSHKSKIVEYLQSYDEITAM    631 - 700
TGDGVNDAPALKKAEIGIAMGSGTAVAKTASEMVLADDNFSTIVAAVEEGRAIYNNMKQFIRYLISSNVG    701 - 770
EVVCIFLTAALGLPEALIPVQLLWVNLVTDGLPATALGFNPPDLDIMDRPPRSPKEPLISGWLFFRYMAI    771 - 840
GGYVGAATVGAAAWWFLYAEDGPHVNYSQLTHFMQCTEDNTHFEGIDCEVFEAPEPMTMALSVLVTIEMC    841 - 910
NALNSLSENQSLLRMPPWVNIWLLGSICLSMSLHFLILYVDPLPMIFKLRALDLTQWLMVLKISLPVIGL    911 - 980
DEILKFVARNYLEDPEDERRK                                                     981 - 1001
//

Text Mined References (52)

PMID Year Title
27055500 2016 Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
27033604 2016 Sphingosine inhibits the sarco(endo)plasmic reticulum Ca(2+)-ATPase (SERCA) activity.
25875358 2015 Formalin evokes calcium transients from the endoplasmatic reticulum.
25487304 2015 The neonatal sarcoplasmic reticulum Ca2+-ATPase gives a clue to development and pathology in human muscles.
25074938 2014 Phospholamban C-terminal residues are critical determinants of the structure and function of the calcium ATPase regulatory complex.
23911890 SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers.
23888875 2014 Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes.
22609207 2012 Regulation of the alternative splicing of sarcoplasmic reticulum Ca²?-ATPase1 (SERCA1) by phorbol 12-myristate 13-acetate (PMA) via a PKC pathway.
21576492 2011 Structural topology of phospholamban pentamer in lipid bilayers by a hybrid solution and solid-state NMR method.
19644701 2009 Atypical fast SERCA1a protein expression in slow myofibers and differential S-nitrosylation prevented by exercise during long term bed rest.
19079260 2009 Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
19061639 2008 Role of SERCA1 truncated isoform in the proapoptotic calcium transfer from ER to mitochondria during ER stress.
18953100 2008 Training induced decrease in oxygen cost of cycling is accompanied by down-regulation of SERCA expression in human vastus lateralis muscle.
18947188 2008 Use of glycerol-containing media to study the intrinsic fluorescence properties of detergent-solubilized native or expressed SERCA1a.
17728322 2007 Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1.
17010426 2007 The expression of the neonatal sarcoplasmic reticulum Ca2+ pump (SERCA1b) hints to a role in muscle growth and development.
16933204 Sarco(endo)plasmic reticulum and plasmalemmal Ca(2+)-ATPase activities in cremaster muscles and sacs differ according to the associated inguinal pathology.
16754798 2006 Relevance of brain natriuretic peptide in preload-dependent regulation of cardiac sarcoplasmic reticulum Ca2+ ATPase expression.
16642550 2006 Calcium uptake and release through sarcoplasmic reticulum in the inferior oblique muscles of patients with inferior oblique overaction.
16410239 2006 The effects of the phenylalanine 256 to valine mutation on the sensitivity of sarcoplasmic/endoplasmic reticulum Ca2+ ATPase (SERCA) Ca2+ pump isoforms 1, 2, and 3 to thapsigargin and other inhibitors.
16192278 2005 Functional comparison between secretory pathway Ca2+/Mn2+-ATPase (SPCA) 1 and sarcoplasmic reticulum Ca2+-ATPase (SERCA) 1 isoforms by steady-state and transient kinetic analyses.
15972723 2005 Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.
15767202 Method-related effects of adenovirus-mediated LacZ and SERCA1 gene transfer on contractile behavior of cultured failing human cardiomyocytes.
15718407 2005 Effect of chronic obstructive pulmonary disease on calcium pump ATPase expression in human diaphragm.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15071553 2004 Biology, structure and mechanism of P-type ATPases.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14638697 2003 Sarco(endo)plasmic reticulum Ca2+ ATPases (SERCA1 and -2) in human extraocular muscles.
12975374 2003 Dissection of the functional differences between sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA) 1 and 2 isoforms and characterization of Darier disease (SERCA2) mutants by steady-state and transient kinetic analyses.
12692302 2003 Sarcolipin regulates sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA) by binding to transmembrane helices alone or in association with phospholamban.
12525698 2003 Modeling of the inhibitory interaction of phospholamban with the Ca2+ ATPase.
12479237 2002 Sarcoplasmic reticulum Ca2+ load in human heart failure.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11526231 2001 Phospholamban domain IB forms an interaction site with the loop between transmembrane helices M6 and M7 of sarco(endo)plasmic reticulum Ca2+ ATPases.
11438520 2001 Mutations of either or both Cys876 and Cys888 residues of sarcoplasmic reticulum Ca2+-ATPase result in a complete loss of Ca2+ transport activity without a loss of Ca2+-dependent ATPase activity. Role of the CYS876-CYS888 disulfide bond.
11402072 2001 SERCA1 truncated proteins unable to pump calcium reduce the endoplasmic reticulum calcium concentration and induce apoptosis.
10914677 2000 The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease.
10551848 1999 Transmembrane helix M6 in sarco(endo)plasmic reticulum Ca(2+)-ATPase forms a functional interaction site with phospholamban. Evidence for physical interactions at other sites.
9642673 1998 Distribution and isoform diversity of the organellar Ca2+ pumps in the brain.
9575189 1998 Sarcolipin regulates the activity of SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+-ATPase.
9405806 1997 Structure/function analysis of the Ca2+ binding and translocation domain of SERCA1 and the role in Brody disease of the ATP2A1 gene encoding SERCA1.
9367679 1997 Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease.
9295312 1997 Insulin receptor substrate proteins create a link between the tyrosine phosphorylation cascade and the Ca2+-ATPases in muscle and heart.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8841193 1996 Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease.
8825625 1995 Characterization of cDNA and genomic DNA encoding SERCA1, the Ca(2+)-ATPase of human fast-twitch skeletal muscle sarcoplasmic reticulum, and its elimination as a candidate gene for Brody disease.
8729696 1996 Ion transport in human skeletal muscle cells: disturbances in myotonic dystrophy and Brody's disease.
8040329 1994 Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil.
2936465 1986 Two Ca2+ ATPase genes: homologies and mechanistic implications of deduced amino acid sequences.
2842876 1987 Fast-twitch and slow-twitch/cardiac Ca2+ ATPase genes map to human chromosomes 16 and 12.
1746562 1991 Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12.
1329967 1992 Adenosine triphosphatases during maturation of cultured human skeletal muscle cells and in adult human muscle.