Descriptions

The plasmid membrane Ca2+ pump (PMCA) extrudes Ca2+ from the cytosol to the extracellular space playing an important role in the maintenance of the resting level of intracellular Ca2+ and in the control of the Ca2+ transients. The PMCAs are of major physiological importance, with different isoforms being essential for presynaptic and postsynaptic Ca2+ regulation in neurons and for feedback signaling in the heart and sperm motility. The PMCAs belong to the subtype 2B of P-type ATPases. The C-terminal segment of the PMCA functions as an autoinhibitory domain by interacting with the catalytic core. Ca2+-calmodulin binds to the C-terminal segment and stops inhibition by switching the PMCA to an activated state of higher maximum activity and affinity for Ca2+. In the PMCA3, the G1107D replacement impairs the autoinhibition mechanism by introducing a negative charge perturbing the contacts between the calmodulin binding domain and the pump core.

Autoinhibitory domains (AIDs)

Target domain

335-1041 (P-type ATPase domain)

Relief mechanism

Partner binding, Ligand binding

Assay

Target domain

434-1036 (P-type ATPase domain)

Relief mechanism

Partner binding

Assay

Target domain

434-1036 (P-type ATPase domain)

Relief mechanism

Partner binding, Ligand binding

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q9R0K7

Entry ID Method Resolution Chain Position Source
AF-Q9R0K7-F1 Predicted AlphaFoldDB

62 variants for Q9R0K7

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3388854541 5 T>I No EVA
rs3388854482 13 N>K No EVA
rs3388852322 21 G>E No EVA
rs3388854515 25 G>R No EVA
rs3388852298 27 T>I No EVA
rs3388814864 51 G>V No EVA
rs3388850903 52 D>E No EVA
rs3388845195 120 G>* No EVA
rs3388849310 172 D>E No EVA
rs3388851779 180 R>Q No EVA
rs3388856923 217 K>E No EVA
rs3388851842 219 G>D No EVA
rs3388845207 236 I>F No EVA
rs3388814825 275 A>V No EVA
rs3388850940 277 G>D No EVA
283 G>S dfw; results in impaired long-term Ca2+ export at stereocilia [UniProt] No
rs3388853475 293 G>S No EVA
rs3388845241 324 D>E No EVA
rs3413095739 340 V>A No EVA
rs3388837090 377 V>M No EVA
rs3388833082 379 N>D No EVA
rs3388846463 380 K>Q No EVA
rs3388852330 393 Q>H No EVA
412 E>K No
rs3388854553 437 R>H No EVA
rs3388849630 452 C>S No EVA
rs3388849337 456 T>R No EVA
rs3388846468 486 N>I No EVA
rs3397252652 486 N>Y No EVA
rs3396830095 487 A>G No EVA
rs3397300379 488 K>M No EVA
rs3388837115 491 E>D No EVA
rs3388845253 499 I>F No EVA
rs3388849329 511 E>K No EVA
rs3388845203 520 V>E No EVA
rs3388850906 524 T>A No EVA
rs3388829784 531 F>Y No EVA
rs3388814803 532 V>M No EVA
rs3388850902 580 K>* No EVA
rs3413041026 596 G>E No EVA
rs3388850915 599 E>G No EVA
rs3388852288 604 R>W No EVA
rs3388829756 633 D>E No EVA
rs3388814855 633 D>N No EVA
rs3388846492 634 F>Y No EVA
rs3388846454 646 N>I No EVA
rs3388852333 667 E>* No EVA
rs3388849258 686 T>I No EVA
rs3388850914 691 N>T No EVA
rs3388833027 728 I>V No EVA
rs3397296107 730 Q>L No EVA
rs30756873 731 E>D No EVA
rs3388829695 757 G>C No EVA
rs3388854498 964 N>K No EVA
rs3388841766 968 A>D No EVA
rs3397289804 982 F>L No EVA
rs3413127790 1058 E>D No EVA
rs3388841743 1087 R>W No EVA
rs3388856973 1116 R>* No EVA
rs3396994355 1170 S>G No EVA
rs3388848876 1198 L>F No EVA
rs3396994348 1199 L>S No EVA

1 associated diseases with Q9R0K7

Without disease ID

5 regional properties for Q9R0K7

Type Name Position InterPro Accession
domain Cation-transporting P-type ATPase, N-terminal 47 - 123 IPR004014
domain Cation-transporting P-type ATPase, C-terminal 858 - 1036 IPR006068
ptm P-type ATPase, phosphorylation site 454 - 460 IPR018303
domain Plasma membrane calcium transporting P-type ATPase, C-terminal 1081 - 1127 IPR022141
domain P-type ATPase, haloacid dehalogenase domain 434 - 825 IPR044492

Functions

Description
EC Number 7.2.2.10 Linked to the hydrolysis of a nucleoside triphosphate
Subcellular Localization
  • Cell membrane ; Multi-pass membrane protein
  • Apical cell membrane ; Multi-pass membrane protein
  • Basolateral cell membrane ; Multi-pass membrane protein
  • Synapse
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

20 GO annotations of cellular component

Name Definition
apical plasma membrane The region of the plasma membrane located at the apical end of the cell.
basolateral plasma membrane The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
cilium A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
dendrite A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
dendritic spine membrane The portion of the plasma membrane surrounding a dendritic spine.
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
GABA-ergic synapse A synapse that uses GABA as a neurotransmitter. These synapses are typically inhibitory.
glutamatergic synapse A synapse that uses glutamate as a neurotransmitter.
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.
neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
neuronal cell body The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
neuronal cell body membrane The plasma membrane of a neuron cell body - excludes the plasma membrane of cell projections such as axons and dendrites.
parallel fiber to Purkinje cell synapse An excitatory synapse formed by the parallel fibers of granule cells synapsing onto the dendrites of Purkinje cells.
photoreceptor ribbon synapse A ribbon synapse between a retinal photoreceptor cell (rod or cone) and a retinal bipolar cell. These contain a plate-like synaptic ribbon.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic density membrane The membrane component of the postsynaptic density. This is the region of the postsynaptic membrane in which the population of neurotransmitter receptors involved in synaptic transmission are concentrated.
postsynaptic membrane A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane.
presynaptic active zone membrane The membrane portion of the presynaptic active zone; it is the site where docking and fusion of synaptic vesicles occurs for the release of neurotransmitters.
presynaptic membrane A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma membrane.

8 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
calcium ion binding Binding to a calcium ion (Ca2+).
calcium-dependent ATPase 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.
glutamate receptor binding Binding to a glutamate receptor.
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.

30 GO annotations of biological process

Name Definition
auditory receptor cell stereocilium organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a stereocilium. A stereocilium is an actin-based protrusion from the apical surface of auditory hair cells.
calcium ion transport The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
cell morphogenesis The developmental process in which the size or shape of a cell is generated and organized.
cerebellar granule cell differentiation The process in which neuroblasts acquire specialized structural and/or functional features that characterize the mature cerebellar granule cell. Differentiation includes the processes involved in commitment of a neuroblast to a granule cell fate. A granule cell is a glutamatergic interneuron found in the cerebellar cortex.
cerebellar Purkinje cell differentiation The process in which neuroblasts acquire specialized structural and/or functional features that characterize the mature cerebellar Purkinje cell. Differentiation includes the processes involved in commitment of a neuroblast to a Purkinje cell fate. A Purkinje cell is an inhibitory GABAergic neuron found in the cerebellar cortex that projects to the deep cerebellar nuclei and brain stem.
cerebellar Purkinje cell layer morphogenesis The process in which the anatomical structure of the cerebellar Purkinje cell layer is generated and organized. The Purkinje cell layer lies just underneath the molecular layer of the cerebellar cortex. It contains the neuronal cell bodies of the Purkinje cells that are arranged side by side in a single layer. Candelabrum interneurons are vertically oriented between the Purkinje cells. Purkinje neurons are inhibitory and provide the output of the cerebellar cortex through axons that project into the white matter. Extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells.
cerebellum development The process whose specific outcome is the progression of the cerebellum over time, from its formation to the mature structure. The cerebellum is the portion of the brain in the back of the head between the cerebrum and the pons. In mice, the cerebellum controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills.
cGMP metabolic process The chemical reactions and pathways involving cyclic GMP, guanosine 3',5'-phosphate.
cochlea development The progression of the cochlea over time from its formation to the mature structure. The cochlea is the snail-shaped portion of the inner ear that is responsible for the detection of sound.
detection of mechanical stimulus involved in sensory perception of sound The series of events involved in the perception of sound vibration in which the vibration is received and converted into a molecular signal.
establishment of localization in cell Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation.
inner ear development The process whose specific outcome is the progression of the inner ear over time, from its formation to the mature structure.
inner ear morphogenesis The process in which the anatomical structures of the inner ear are generated and organized. The inner ear is the structure in vertebrates that contains the organs of balance and hearing. It consists of soft hollow sensory structures (the membranous labyrinth) containing fluid (endolymph) surrounded by fluid (perilymph) and encased in a bony cavity (the bony labyrinth). It consists of two chambers, the sacculus and utriculus, from which arise the cochlea and semicircular canals respectively.
inner ear receptor cell differentiation The process in which relatively unspecialized cells, acquire specialized structural and/or functional features of inner ear receptor cells. Inner ear receptor cells are mechanorecptors found in the inner ear responsible for transducing signals involved in balance and sensory perception of sound.
intracellular calcium ion homeostasis A homeostatic process involved in the maintenance of a steady state level of calcium ions within a cell.
lactation The regulated release of milk from the mammary glands and the period of time that a mother lactates to feed her young.
locomotion Self-propelled movement of a cell or organism from one location to another.
locomotory behavior The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions.
neuromuscular process controlling balance Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors.
neuron cellular homeostasis The cellular homeostatic process that preserves a neuron in a stable, differentiated functional and structural state.
neuron differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuron.
organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane.
otolith mineralization The precipitation of specific crystal forms of calcium carbonate with extracellular matrix proteins in the otolith organs of the vertebrate inner ear.
positive regulation of calcium ion transport Any process that activates or increases the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of cell size Any process that modulates the size of 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.
regulation of synaptic plasticity A process that modulates synaptic plasticity, the ability of synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers.
sensory perception of sound The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound.
serotonin metabolic process The chemical reactions and pathways involving serotonin (5-hydroxytryptamine), a monoamine neurotransmitter occurring in the peripheral and central nervous systems, also having hormonal properties.
synapse organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell).

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
D3K0R6 ATP2B4 Plasma membrane calcium-transporting ATPase 4 Bos taurus (Bovine) 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
Q16720 ATP2B3 Plasma membrane calcium-transporting ATPase 3 Homo sapiens (Human) EV
Q01814 ATP2B2 Plasma membrane calcium-transporting ATPase 2 Homo sapiens (Human) SS
G5E829 Atp2b1 Plasma membrane calcium-transporting ATPase 1 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
Q64542 Atp2b4 Plasma membrane calcium-transporting ATPase 4 Rattus norvegicus (Rat) 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
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
MGDMTNSDFY SKNQRNESSH GGEFGCTMEE LRSLMELRGT EAVVKIKETY GDTEAICRRL
70 80 90 100 110 120
KTSPVEGLPG TAPDLEKRKQ IFGQNFIPPK KPKTFLQLVW EALQDVTLII LEIAAIISLG
130 140 150 160 170 180
LSFYHPPGES NEGCATAQGG AEDEGEAEAG WIEGAAILLS VICVVLVTAF NDWSKEKQFR
190 200 210 220 230 240
GLQSRIEQEQ KFTVVRAGQV VQIPVAEIVV GDIAQIKYGD LLPADGLFIQ GNDLKIDESS
250 260 270 280 290 300
LTGESDQVRK SVDKDPMLLS GTHVMEGSGR MVVTAVGVNS QTGIIFTLLG AGGEEEEKKD
310 320 330 340 350 360
KKAKQQDGAA AMEMQPLKSA EGGDADDKKK ANMHKKEKSV LQGKLTKLAV QIGKAGLVMS
370 380 390 400 410 420
AITVIILVLY FTVDTFVVNK KPWLTECTPV YVQYFVKFFI IGVTVLVVAV PEGLPLAVTI
430 440 450 460 470 480
SLAYSVKKMM KDNNLVRHLD ACETMGNATA ICSDKTGTLT TNRMTVVQAY VGDVHYKEIP
490 500 510 520 530 540
DPSSINAKTL ELLVNAIAIN SAYTTKILPP EKEGALPRQV GNKTECGLLG FVLDLRQDYE
550 560 570 580 590 600
PVRSQMPEEK LYKVYTFNSV RKSMSTVIKM PDESFRMYSK GASEIVLKKC CKILSGAGEA
610 620 630 640 650 660
RVFRPRDRDE MVKKVIEPMA CDGLRTICVA YRDFPSSPEP DWDNENDILN ELTCICVVGI
670 680 690 700 710 720
EDPVRPEVPE AIRKCQRAGI TVRMVTGDNI NTARAIAIKC GIIHPGEDFL CLEGKEFNRR
730 740 750 760 770 780
IRNEKGEIEQ ERIDKIWPKL RVLARSSPTD KHTLVKGIID STHTEQRQVV AVTGDGTNDG
790 800 810 820 830 840
PALKKADVGF AMGIAGTDVA KEASDIILTD DNFSSIVKAV MWGRNVYDSI SKFLQFQLTV
850 860 870 880 890 900
NVVAVIVAFT GACITQDSPL KAVQMLWVNL IMDTFASLAL ATEPPTETLL LRKPYGRNKP
910 920 930 940 950 960
LISRTMMKNI LGHAVYQLTL IFTLLFVGEK MFQIDSGRNA PLHSPPSEHY TIIFNTFVMM
970 980 990 1000 1010 1020
QLFNEINARK IHGERNVFDG IFRNPIFCTI VLGTFAIQIV IVQFGGKPFS CSPLQLDQWM
1030 1040 1050 1060 1070 1080
WCIFIGLGEL VWGQVIATIP TSRLKFLKEA GRLTQKEEIP EEELNEDVEE IDHAERELRR
1090 1100 1110 1120 1130 1140
GQILWFRGLN RIQTQIRVVK AFRSSLYEGL EKPESRTSIH NFMAHPEFRI EDSQPHIPLI
1150 1160 1170 1180 1190
DDTDLEEDAA LKQNSSPPSS LNKNNSAIDS GINLTTDTSK SATSSSPGSP IHSLETSL