Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q3UVX5

Entry ID Method Resolution Chain Position Source
AF-Q3UVX5-F1 Predicted AlphaFoldDB

41 variants for Q3UVX5

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3397964816 64 Y>H No EVA
rs3388904277 65 G>R No EVA
rs3388926973 65 G>V No EVA
rs3398051619 66 I>F No EVA
rs3398051679 70 E>D No EVA
rs3398134121 70 E>K No EVA
rs3398134148 72 M>I No EVA
rs3398277593 74 H>L No EVA
rs3388906628 101 H>D No EVA
rs3388923356 189 R>S No EVA
rs3388919474 193 S>* No EVA
rs3388925357 236 K>R No EVA
rs3388925400 292 L>M No EVA
rs3388922135 303 S>T No EVA
rs3388922137 311 D>G No EVA
rs3388912127 311 D>Y No EVA
rs3388928971 338 D>G No EVA
rs3398262474 349 L>F No EVA
rs3398206571 352 P>H No EVA
rs3398053739 353 W>G No EVA
rs3398206585 355 Q>R No EVA
rs3398206557 474 G>* No EVA
rs3397808996 475 K>E No EVA
rs1132574703 517 G>* No EVA
rs1133580037 518 Q>H No EVA
rs1133481134 518 Q>L No EVA
rs3388917510 522 I>N No EVA
rs3388922064 554 G>E No EVA
rs3398279710 612 S>LLEDLTTGVSR* No EVA
rs3388925839 740 V>A No EVA
rs3388919459 784 W>* No EVA
rs3388925921 801 M>V No EVA
rs3398262412 877 Y>* No EVA
rs3397808947 877 Y>N No EVA
rs3397819786 880 R>M No EVA
rs3388912188 941 N>K No EVA
rs3388897892 954 S>N No EVA
rs3398054637 1021 L>P No EVA
rs3398279740 1025 A>P No EVA
rs3398183177 1036 P>S No EVA
rs3388912189 1173 S>F No EVA

1 associated diseases with Q3UVX5

[MIM: 608443]: Intellectual developmental disorder, autosomal recessive 3 (MRT3)

A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:16033914}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:16033914}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q3UVX5

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q3UVX5

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

13 GO annotations of cellular component

Name Definition
astrocyte projection A prolongation or process extending from the soma of an astrocyte and wrapping around neurons.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
dendritic shaft Cylindric portion of the dendrite, directly stemming from the perikaryon, and carrying the dendritic spines.
dendritic spine A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity.
glutamatergic synapse A synapse that uses glutamate as a neurotransmitter.
integral component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of postsynaptic membrane The component of the postsynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
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 An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.
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.
Schaffer collateral - CA1 synapse A synapse between the Schaffer collateral axon of a CA3 pyramidal cell and a CA1 pyramidal cell.

9 GO annotations of molecular function

Name Definition
A2A adenosine receptor binding Binding to an A2A adenosine receptor.
adenylate cyclase inhibiting G protein-coupled glutamate receptor activity Combining with glutamate and transmitting the signal across the membrane by activating the alpha-subunit of an associated heterotrimeric G-protein complex to inhibit downstream adenylate cyclase activity.
G protein-coupled receptor activity Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex.
G protein-coupled receptor activity involved in regulation of postsynaptic membrane potential A G protein-coupled receptor activity occurring in the postsynaptic membrane that is part of a GPCR signaling pathway that positively regulates ion channel activity in the postsynaptic membrane.
glutamate receptor activity Combining with glutamate and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.
identical protein binding Binding to an identical protein or proteins.
neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration Any neurotransmitter receptor activity that is involved in regulating the concentration of calcium in the postsynaptic cytosol.
PLC activating G protein-coupled glutamate receptor activity A G protein-coupled receptor that binds glutamate and is linked to the inositol 1,4,5-trisphosphate/calcium signaling system.
protein tyrosine kinase binding Binding to protein tyrosine kinase.

24 GO annotations of biological process

Name Definition
calcium-mediated signaling using intracellular calcium source The series of molecular signals in which a cell uses calcium ions released from an intracellular store to convert a signal into a response.
cellular response to amyloid-beta 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 a amyloid-beta stimulus.
chemical synaptic transmission The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.
cognition The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory.
desensitization of G protein-coupled receptor signaling pathway The process that stops, prevents, or reduces the frequency, rate or extent of G protein-coupled receptor signaling pathway after prolonged stimulation with an agonist of the pathway.
G protein-coupled glutamate receptor signaling pathway A G protein-coupled receptor signaling pathway initiated by glutamate binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process.
learning Any process in an organism in which a relatively long-lasting adaptive behavioral change occurs as the result of experience.
learning or memory The acquisition and processing of information and/or the storage and retrieval of this information over time.
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.
negative regulation of locomotion Any process that stops, prevents, or reduces the frequency, rate or extent of locomotion of a cell or organism.
positive regulation of long-term neuronal synaptic plasticity A process that increases long-term neuronal synaptic plasticity, the ability of neuronal synapses to change long-term as circumstances require. Long-term neuronal synaptic plasticity generally involves increase or decrease in actual synapse numbers.
positive regulation of MAPK cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of protein tyrosine kinase activity Any process that increases the rate, frequency, or extent of protein tyrosine kinase activity.
postsynaptic modulation of chemical synaptic transmission Any process, acting in the postsynapse that results in modulation of chemical synaptic transmission.
protein kinase C-activating G protein-coupled receptor signaling pathway The series of molecular signals generated as a consequence of a G protein-coupled receptor binding to its physiological ligand, where the pathway proceeds with activation of protein kinase C (PKC). PKC is activated by second messengers including diacylglycerol (DAG).
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of intracellular calcium activated chloride channel activity Any process that modulates the frequency, rate or extent of intracellular calcium activated chloride channel activity.
regulation of long-term neuronal synaptic plasticity A process that modulates long-term neuronal synaptic plasticity, the ability of neuronal synapses to change long-term as circumstances require. Long-term neuronal synaptic plasticity generally involves increase or decrease in actual synapse numbers.
regulation of protein phosphorylation Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein.
regulation of synaptic transmission, glutamatergic Any process that modulates the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate.
regulation of translational elongation Any process that modulates the frequency, rate, extent or accuracy of translational elongation.
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).
trans-synaptic signaling by endocannabinoid, modulating synaptic transmission Cell-cell signaling between presynapse and postsynapse, via the release and reception of endocannabinoid ligands, that modulates the synaptic transmission properties of the synapse.

8 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O00222 GRM8 Metabotropic glutamate receptor 8 Homo sapiens (Human) PR
Q14416 GRM2 Metabotropic glutamate receptor 2 Homo sapiens (Human) PR
P41180 CASR Extracellular calcium-sensing receptor Homo sapiens (Human) PR
P47743 Grm8 Metabotropic glutamate receptor 8 Mus musculus (Mouse) PR
Q14BI2 Grm2 Metabotropic glutamate receptor 2 Mus musculus (Mouse) PR
Q9QYS2 Grm3 Metabotropic glutamate receptor 3 Mus musculus (Mouse) PR
P31422 Grm3 Metabotropic glutamate receptor 3 Rattus norvegicus (Rat) PR
P31421 Grm2 Metabotropic glutamate receptor 2 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MVLLLILSVL LLKEDVRGSA QSSERRVVAH MPGDIIIGAL FSVHHQPTVD KVHERKCGAV
70 80 90 100 110 120
REQYGIQRVE AMLHTLERIN SDPTLLPNIT LGCEIRDSCW HSAVALEQSI EFIRDSLISS
130 140 150 160 170 180
EEEEGLVRCV DGSSSFRSKK PIVGVIGPGS SSVAIQVQNL LQLFNIPQIA YSATSMDLSD
190 200 210 220 230 240
KTLFKYFMRV VPSDAQQARA MVDIVKRYNW TYVSAVHTEG NYGESGMEAF KDMSAKEGIC
250 260 270 280 290 300
IAHSYKIYSN AGEQSFDKLL KKLRSHLPKA RVVACFCEGM TVRGLLMAMR RLGLAGEFLL
310 320 330 340 350 360
LGSDGWADRY DVTDGYQREA VGGITIKLQS PDVKWFDDYY LKLRPETNLR NPWFQEFWQH
370 380 390 400 410 420
RFQCRLEGFA QENSKYNKTC NSSLTLRTHH VQDSKMGFVI NAIYSMAYGL HNMQMSLCPG
430 440 450 460 470 480
YAGLCDAMKP IDGRKLLDSL MKTNFTGVSG DMILFDENGD SPGRYEIMNF KEMGKDYFDY
490 500 510 520 530 540
INVGSWDNGE LKMDDDEVWS KKNNIIRSVC SEPCEKGQIK VIRKGEVSCC WTCTPCKENE
550 560 570 580 590 600
YVFDEYTCKA CQLGSWPTDD LTGCDLIPVQ YLRWGDPEPI AAVVFACLGL LATLFVTVIF
610 620 630 640 650 660
IIYRDTPVVK SSSRELCYII LAGICLGYLC TFCLIAKPKQ IYCYLQRIGI GLSPAMSYSA
670 680 690 700 710 720
LVTKTNRIAR ILAGSKKKIC TKKPRFMSAC AQLVIAFILI CIQLGIIVAL FIMEPPDIMH
730 740 750 760 770 780
DYPSIREVYL ICNTTNLGVV TPLGYNGLLI LSCTFYAFKT RNVPANFNEA KYIAFTMYTT
790 800 810 820 830 840
CIIWLAFVPI YFGSNYKIIT MCFSVSLSAT VALGCMFVPK VYIILAKPER NVRSAFTTST
850 860 870 880 890 900
VVRMHVGDGK SSSAASRSSS LVNLWKRRGS SGETLRYKDR RLAQHKSEIE CFTPKGSMGN
910 920 930 940 950 960
GGRATMSSSN GKSVTWAQNE KSTRGQHLWQ RLSVHINKKE NPNQTAVIKP FPKSTESRGQ
970 980 990 1000 1010 1020
GAGAGGGSGP GAAGAGSAGC TATGGPEPPD AGPKALYDVA EAEERFPAAA RPRSPSPIST
1030 1040 1050 1060 1070 1080
LSHLAGSAGR TDDDAPSLHS ETAARSSSSQ GSLMEQISSV VTRFTANITE LNSMMLSTAA
1090 1100 1110 1120 1130 1140
APGPPGTPIC SSYLIPKEIQ LPTTMTTFAE IQPLPAIEVT GGAQPATGPS PAQETPAGAE
1150 1160 1170 1180 1190 1200
AAPGKPDLEE LVALTPPSPF RDSVDSGSTT PNSPVSESAL CIPSSPKYDT LIIRDYTQSS
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