D3K0R6
Gene name |
ATP2B4 |
Protein name |
Plasma membrane calcium-transporting ATPase 4 |
Names |
PMCA4 , EC 7.2.2.10 |
Species |
Bos taurus (Bovine) |
KEGG Pathway |
bta:282146 |
EC number |
7.2.2.10: Linked to the hydrolysis of a nucleoside triphosphate |
Protein Class |
|
Descriptions
Autoinhibitory domains (AIDs)
Target domain |
346-1051 (P-type ATPase domain) |
Relief mechanism |
Partner binding, Ligand binding |
Assay |
|
Target domain |
445-1046 (P-type ATPase domain) |
Relief mechanism |
Partner binding |
Assay |
|
Target domain |
445-1046 (P-type ATPase domain) |
Relief mechanism |
Partner binding, Ligand binding |
Assay |
|
Accessory elements
No accessory elements
References
- Calì T et al. (2017) "The ataxia related G1107D mutation of the plasma membrane Ca(2+) ATPase isoform 3 affects its interplay with calmodulin and the autoinhibition process", Biochimica et biophysica acta. Molecular basis of disease, 1863, 165-173
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Carafoli E (1994) "Biogenesis: plasma membrane calcium ATPase: 15 years of work on the purified enzyme", FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 8, 993-1002
- Tidow H et al. (2010) "Expression, purification, crystallization and preliminary X-ray analysis of calmodulin in complex with the regulatory domain of the plasma-membrane Ca2+-ATPase ACA8", Acta crystallographica. Section F, Structural biology and crystallization communications, 66, 361-3
- Saffioti NA et al. (2021) "Conformational changes during the reaction cycle of plasma membrane Ca2+-ATPase in the autoinhibited and activated states", The Biochemical journal, 478, 2019-2034
- Calì T et al. (2018) "The PMCA pumps in genetically determined neuronal pathologies", Neuroscience letters, 663, 2-11
- Corradi GR et al. (2007) "Intramolecular fluorescence resonance energy transfer between fused autofluorescent proteins reveals rearrangements of the N- and C-terminal segments of the plasma membrane Ca2+ pump involved in the activation", The Journal of biological chemistry, 282, 35440-8
- Osborn KD et al. (2005) "Single-molecule characterization of the dynamics of calmodulin bound to oxidatively modified plasma-membrane Ca2+-ATPase", Biochemistry, 44, 11074-81
- Lopreiato R et al. (2014) "The plasma membrane calcium pump: new ways to look at an old enzyme", The Journal of biological chemistry, 289, 10261-10268
- Bredeston LM et al. (2004) "Loss of autoinhibition of the plasma membrane Ca(2+) pump by substitution of aspartic 170 by asparagin. A ctivation of plasma membrane calcium ATPase 4 without disruption of the interaction between the catalytic core and the C-terminal regulatory domain", The Journal of biological chemistry, 279, 41619-25
- Pinto Fde T et al. (2002) "Deletions in the acidic lipid-binding region of the plasma membrane Ca2+ pump. A mutant with high affinity for Ca2+ resembling the acidic lipid-activated enzyme", The Journal of biological chemistry, 277, 12784-9
Autoinhibited structure
Activated structure
1 structures for D3K0R6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-D3K0R6-F1 | Predicted | AlphaFoldDB |
No variants for D3K0R6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| No variants for D3K0R6 | |||||
4 associated diseases with D3K0R6
[MIM: 613684]: Rubinstein-Taybi syndrome 2 (RSTS2)
A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, intellectual disability and a propensity for development of malignancies. Some individuals with RSTS2 have less severe mental impairment, more severe microcephaly, and a greater degree of changes in facial bone structure than RSTS1 patients. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 618333]: Menke-Hennekam syndrome 2 (MKHK2)
A form of Menke-Hennekam syndrome, a congenital autosomal dominant disease characterized by developmental delay, growth retardation, and craniofacial dysmorphism. Patients have intellectual disability of variable severity, speech delay, autistic behavior, short stature and microcephaly. Main facial characteristics include short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, intellectual disability and a propensity for development of malignancies. Some individuals with RSTS2 have less severe mental impairment, more severe microcephaly, and a greater degree of changes in facial bone structure than RSTS1 patients. . Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of Menke-Hennekam syndrome, a congenital autosomal dominant disease characterized by developmental delay, growth retardation, and craniofacial dysmorphism. Patients have intellectual disability of variable severity, speech delay, autistic behavior, short stature and microcephaly. Main facial characteristics include short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum. . Note=The disease is caused by variants affecting the gene represented in this entry.
9 regional properties for D3K0R6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, TAZ-type | 331 - 417 | IPR000197-1 |
| domain | Zinc finger, TAZ-type | 1728 - 1809 | IPR000197-2 |
| domain | Zinc finger, ZZ-type | 1664 - 1713 | IPR000433 |
| domain | Bromodomain | 1048 - 1158 | IPR001487 |
| domain | Coactivator CBP, KIX domain | 566 - 646 | IPR003101 |
| domain | CREB-binding protein/p300, atypical RING domain | 1156 - 1242 | IPR010303 |
| domain | Nuclear receptor coactivator, CREB-bp-like, interlocking | 1992 - 2098 | IPR014744 |
| conserved_site | Bromodomain, conserved site | 1072 - 1131 | IPR018359 |
| domain | CBP/p300-type histone acetyltransferase domain | 1287 - 1663 | IPR031162 |
Functions
| Description | ||
|---|---|---|
| EC Number | 7.2.2.10 | Linked to the hydrolysis of a nucleoside triphosphate |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| sperm flagellum | A microtubule-based flagellum (or cilium) that is part of a sperm, a mature male germ cell that develops from a spermatid. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| metal ion binding | Binding to a metal ion. |
| P-type calcium transporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction |
| PDZ domain binding | Binding to a PDZ domain of a protein, a domain found in diverse signaling proteins. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to acetylcholine | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an acetylcholine stimulus. |
| flagellated sperm motility | The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. |
| intracellular calcium ion homeostasis | A homeostatic process involved in the maintenance of a steady state level of calcium ions within a cell. |
| regulation of cytosolic calcium ion concentration | Any process involved in the maintenance of an internal steady state of calcium ions within the cytosol of a cell or between the cytosol and its surroundings. |
| urinary bladder smooth muscle contraction | A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the urinary bladder. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The urinary bladder is a musculomembranous sac along the urinary tract. |
31 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P38929 | PMC1 | Calcium-transporting ATPase 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q16720 | ATP2B3 | Plasma membrane calcium-transporting ATPase 3 | Homo sapiens (Human) | EV |
| Q01814 | ATP2B2 | Plasma membrane calcium-transporting ATPase 2 | Homo sapiens (Human) | SS |
| P20020 | ATP2B1 | Plasma membrane calcium-transporting ATPase 1 | Homo sapiens (Human) | SS |
| P23634 | ATP2B4 | Plasma membrane calcium-transporting ATPase 4 | Homo sapiens (Human) | EV |
| G5E829 | Atp2b1 | Plasma membrane calcium-transporting ATPase 1 | Mus musculus (Mouse) | SS |
| Q9R0K7 | Atp2b2 | Plasma membrane calcium-transporting ATPase 2 | Mus musculus (Mouse) | SS |
| Q6Q477 | Atp2b4 | Plasma membrane calcium-transporting ATPase 4 | Mus musculus (Mouse) | SS |
| P23220 | ATP2B1 | Plasma membrane calcium-transporting ATPase 1 | Sus scrofa (Pig) | SS |
| P11505 | Atp2b1 | Plasma membrane calcium-transporting ATPase 1 | Rattus norvegicus (Rat) | SS |
| Q64568 | Atp2b3 | Plasma membrane calcium-transporting ATPase 3 | Rattus norvegicus (Rat) | SS |
| P11506 | Atp2b2 | Plasma membrane calcium-transporting ATPase 2 | Rattus norvegicus (Rat) | SS |
| Q64542 | Atp2b4 | Plasma membrane calcium-transporting ATPase 4 | Rattus norvegicus (Rat) | SS |
| Q2QMX9 | ACA10 | Calcium-transporting ATPase 10, plasma membrane-type | Oryza sativa subsp japonica (Rice) | SS |
| Q2QY12 | ACA9 | Probable calcium-transporting ATPase 9, plasma membrane-type | Oryza sativa subsp japonica (Rice) | SS |
| Q6ATV4 | ACA3 | Calcium-transporting ATPase 3, plasma membrane-type | Oryza sativa subsp japonica (Rice) | SS |
| Q7X8B5 | ACA5 | Calcium-transporting ATPase 5, plasma membrane-type | Oryza sativa subsp japonica (Rice) | SS |
| Q7XEK4 | ACA7 | Calcium-transporting ATPase 7, plasma membrane-type | Oryza sativa subsp japonica (Rice) | EV |
| Q8RUN1 | ACA1 | Calcium-transporting ATPase 1, plasma membrane-type | Oryza sativa subsp japonica (Rice) | SS |
| Q65X71 | ACA6 | Probable calcium-transporting ATPase 6, plasma membrane-type | Oryza sativa subsp japonica (Rice) | SS |
| Q2RAS0 | ACA8 | Probable calcium-transporting ATPase 8, plasma membrane-type | Oryza sativa subsp japonica (Rice) | SS |
| O22218 | ACA4 | Calcium-transporting ATPase 4, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | SS |
| O64806 | ACA7 | Putative calcium-transporting ATPase 7, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | SS |
| O81108 | ACA2 | Calcium-transporting ATPase 2, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | EV |
| Q9LF79 | ACA8 | Calcium-transporting ATPase 8, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | EV |
| Q9LIK7 | ACA13 | Putative calcium-transporting ATPase 13, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9LU41 | ACA9 | Calcium-transporting ATPase 9, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9LY77 | ACA12 | Calcium-transporting ATPase 12, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9M2L4 | ACA11 | Putative calcium-transporting ATPase 11, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9SZR1 | ACA10 | Calcium-transporting ATPase 10, plasma membrane-type | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q37145 | ACA1 | Calcium-transporting ATPase 1 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTNPTEHTLP | SNSILESREG | EFGCTVMDLR | KLMELRSSDA | IDQINVHYGG | VMNLCSRLKT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NPVEGLSGNP | ADLEKRKQVF | GQNLIPPKKP | KTFLELVWEA | LQDVTLIILE | IAAIISLVLS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FYRPPGGENE | QCGLAVTSPE | DEGEAEAGWI | EGAAILFSVI | IVVLVTAFND | WSKEKQFRGL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QNRIEKEQKF | SVIRNGHIIQ | LPVAEIVVGD | IAQIKYGDLL | PADGILIQGN | DLKIDESSLT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GESDHVKKSL | ERDPMLLSGT | HVMEGSGRMV | VTAVGINSQT | GIIFTLLGAS | EGEEEEKKKK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GKKQGVPENR | NKAKTQDGVA | LEIQPLNSQE | GIDSEEKEKK | AAKLPKKEKS | VLQGKLTRLA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VQIGKAGLIM | SAITVLILIL | YFVIDNFVIQ | RRPWLAECTP | IYVQYFVKFF | IIGVTVLVVA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VPEGLPLAVT | ISLAYSVKKM | MKDNNLVRHL | DACETMGNAT | AICSDKTGTL | TMNRMSVVQA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YIGDTRYHQI | PSPDDLVPKV | LDLIVNGISI | NSAYTSKILP | PEKEGGLPRQ | VGNKTECALL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GFVSDLKQDY | HAVRSEVPEE | KLYKVYTFNS | VRKSMSTVIE | KPGGGYRMYS | KGASEIILRK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| CNRILDKKGE | AVPFKNKDRD | EMVRTVIEPM | ACEGLRTLCI | AYRDFNDGEP | PWDNESEILT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ELTCIAVVGI | EDPVRPEVPE | AIAKCKRAGI | TVRMVTGDNI | NTARAIATKC | GIVTPGDDFL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| CLEGKEFNRL | IRNEKGEVEQ | EKLDKIWPKL | RVLARSSPTD | KHTLVKGIID | STVGDQRQVV |
| 790 | 800 | 810 | 820 | 830 | 840 |
| AVTGDGTNDG | PALKKADVGF | AMGIAGTDVA | KEASDIILTD | DNFTSIVKAV | MWGRNVYDSI |
| 850 | 860 | 870 | 880 | 890 | 900 |
| SKFLQFQLTV | NVVAVIVAFT | GACITQDSPL | KAVQMLWVNL | IMDTFASLAL | ATEPPTDSLL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| KRRPYGRNKP | LISRTMMKNI | LGHAVYQLTV | IFFLVFAGEK | FFDIDSGRRA | PLHSPPSQHY |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| TIIFNTFVLM | QLFNEINSRK | IHGERNVFSG | IFRNLIFCSV | VLGTFISQII | IVEFGGKPFS |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| CTKLTLSQWF | WCLFIGIGEL | LWGQVISTIP | TQSLKFLKEA | GHGTTKEEIT | KDAEGLDEID |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| HAEMELRRGQ | ILWFRGLNRI | QTQIKVVKAF | HSSLHESIQK | PKNQNSIHNF | MTHPEFTIDE |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| EGPRTPLLDE | QEEEIFEKVS | KPGTKTSSLD | GEVTPQTNKN | NNTVDCCQVQ | IVASHSDSPL |
| HSLETSV |