O04660
PR
Gene name |
GLR2.1 (GLR3, At5g27100, A_TM021B04.3, T21B4.10) |
Protein name |
Glutamate receptor 2.1 |
Names |
Ligand-gated ion channel 2.1, AtGLR3 |
Species |
Arabidopsis thaliana (Mouse-ear cress) |
KEGG Pathway |
ath:AT5G27100 |
EC number |
|
Protein Class |
|
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 O04660
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O04660-F1 | Predicted | AlphaFoldDB |
61 variants for O04660
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| tmp_5_9538299_T_C | 5 | N>D | No | 1000Genomes | |
| ENSVATH07061034 | 5 | N>K | No | 1000Genomes | |
| ENSVATH00653219 | 17 | V>I | No | 1000Genomes | |
| ENSVATH07061033 | 19 | L>P | No | 1000Genomes | |
| ENSVATH07061032 | 24 | E>* | No | 1000Genomes | |
| ENSVATH07061031 | 24 | E>V | No | 1000Genomes | |
| ENSVATH07061030 | 26 | Q>K | No | 1000Genomes | |
| ENSVATH07061029 | 29 | I>T | No | 1000Genomes | |
| ENSVATH07061026 | 43 | A>V | No | 1000Genomes | |
| tmp_5_9538176_T_C | 46 | N>D | No | 1000Genomes | |
| tmp_5_9538101_C_G | 71 | V>L | No | 1000Genomes | |
| tmp_5_9537845_G_A | 103 | P>S | No | 1000Genomes | |
| ENSVATH11135201 | 178 | E>* | No | 1000Genomes | |
| ENSVATH07061017 | 220 | L>Q | No | 1000Genomes | |
| ENSVATH00653202 | 226 | V>I | No | 1000Genomes | |
| ENSVATH07061016 | 236 | R>I | No | 1000Genomes | |
| ENSVATH07061015 | 249 | Q>* | No | 1000Genomes | |
| tmp_5_9537382_T_C | 257 | N>S | No | 1000Genomes | |
| tmp_5_9537351_G_C | 267 | N>K | No | 1000Genomes | |
| ENSVATH07061014 | 268 | E>K | No | 1000Genomes | |
| tmp_5_9537344_C_T | 270 | E>K | No | 1000Genomes | |
| tmp_5_9537336_T_G | 272 | E>D | No | 1000Genomes | |
| ENSVATH07061013 | 272 | E>V | No | 1000Genomes | |
| ENSVATH07061012 | 303 | I>F | No | 1000Genomes | |
| ENSVATH00653189 | 337 | M>T | No | 1000Genomes | |
| ENSVATH03139994 | 337 | M>V | No | 1000Genomes | |
| tmp_5_9536909_T_A | 415 | K>* | No | 1000Genomes | |
| tmp_5_9536863_C_T | 430 | R>K | No | 1000Genomes | |
| ENSVATH03139993 | 461 | N>K | No | 1000Genomes | |
| ENSVATH03139992 | 463 | T>N | No | 1000Genomes | |
| ENSVATH07061011 | 480 | I>F | No | 1000Genomes | |
| ENSVATH00653180 | 500 | I>V | No | 1000Genomes | |
| tmp_5_9536648_A_T | 502 | Y>N | No | 1000Genomes | |
| ENSVATH14238128 | 503 | D>N | No | 1000Genomes | |
| ENSVATH11135147 | 524 | Y>C | No | 1000Genomes | |
| tmp_5_9536483_T_TTAAG | 525 | D>A | No | 1000Genomes | |
| ENSVATH11135146 | 525 | D>Y | No | 1000Genomes | |
| ENSVATH00653172 | 535 | S>A | No | 1000Genomes | |
| ENSVATH07061010 | 538 | S>A | No | 1000Genomes | |
| ENSVATH00653168 | 551 | G>R | No | 1000Genomes | |
| ENSVATH00653165 | 560 | D>E | No | 1000Genomes | |
| ENSVATH07061008 | 582 | L>F | No | 1000Genomes | |
| tmp_5_9536277_C_T | 594 | V>I | No | 1000Genomes | |
| ENSVATH03139989 | 604 | D>Y | No | 1000Genomes | |
| ENSVATH00653153 | 637 | V>L | No | 1000Genomes | |
| ENSVATH00653151 | 641 | I>M | No | 1000Genomes | |
| ENSVATH14238127 | 669 | T>A | No | 1000Genomes | |
| ENSVATH00653148 | 692 | G>E | No | 1000Genomes | |
| tmp_5_9535865_G_A | 694 | L>F | No | 1000Genomes | |
| ENSVATH00653147 | 703 | S>C | No | 1000Genomes | |
| ENSVATH07061004 | 718 | S>R | No | 1000Genomes | |
| ENSVATH07061003 | 722 | A>T | No | 1000Genomes | |
| ENSVATH00653144 | 723 | E>K | No | 1000Genomes | |
| ENSVATH03139983 | 768 | P>L | No | 1000Genomes | |
| ENSVATH07061002 | 773 | I>N | No | 1000Genomes | |
| ENSVATH00653134 | 790 | E>D | No | 1000Genomes | |
| tmp_5_9535492_C_T | 792 | A>T | No | 1000Genomes | |
| tmp_5_9535487_C_G | 793 | W>C | No | 1000Genomes | |
| ENSVATH07061000 | 842 | F>Y | No | 1000Genomes | |
| ENSVATH07060999 | 845 | Q>E | No | 1000Genomes | |
| ENSVATH00653116 | 897 | V>I | No | 1000Genomes |
1 associated diseases with O04660
[MIM: 301026]: Keipert syndrome (KPTS)
An X-linked recessive syndrome characterized by craniofacial and digital abnormalities. Clinical features include a prominent forehead, a flat midface, hypertelorism, a broad nose, downturned corners of mouth, and widening of all distal phalanges. Additional variable features are cognitive impairment and sensorineural deafness. {ECO:0000269|PubMed:30982611}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An X-linked recessive syndrome characterized by craniofacial and digital abnormalities. Clinical features include a prominent forehead, a flat midface, hypertelorism, a broad nose, downturned corners of mouth, and widening of all distal phalanges. Additional variable features are cognitive impairment and sensorineural deafness. {ECO:0000269|PubMed:30982611}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for O04660
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Glypican, conserved site | 254 - 277 | IPR019803 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium channel activity | Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| 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. |
| ligand-gated ion channel activity | Enables the transmembrane transfer of an ion by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. |
| signaling receptor activity | Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| calcium-mediated signaling | Any intracellular signal transduction in which the signal is passed on within the cell via calcium ions. |
| cellular response to amino acid stimulus | 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 amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O60391 | GRIN3B | Glutamate receptor ionotropic, NMDA 3B | Homo sapiens (Human) | PR |
| Q12879 | GRIN2A | Glutamate receptor ionotropic, NMDA 2A | Homo sapiens (Human) | PR |
| Q91ZU9 | Grin3b | Glutamate receptor ionotropic, NMDA 3B | Mus musculus (Mouse) | PR |
| P23819 | Gria2 | Glutamate receptor 2 | Mus musculus (Mouse) | PR |
| P35439 | Grin1 | Glutamate receptor ionotropic, NMDA 1 | Rattus norvegicus (Rat) | PR |
| P19491 | Gria2 | Glutamate receptor 2 | Rattus norvegicus (Rat) | PR |
| Q8VHN2 | Grin3b | Glutamate receptor ionotropic, NMDA 3B | Rattus norvegicus (Rat) | PR |
| O81078 | GLR2.9 | Glutamate receptor 2.9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O81776 | GLR2.4 | Glutamate receptor 2.4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q84W41 | GLR3.6 | Glutamate receptor 3.6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9C8E7 | GLR3.3 | Glutamate receptor 3.3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SDQ4 | GLR3.7 | Glutamate receptor 3.7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SHV1 | GLR2.2 | Glutamate receptor 2.2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SHV2 | GLR2.3 | Glutamate receptor 2.3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKRENNLVLS | LLFFVIVFLM | QVGEAQNRIT | NVNVGIVNDI | GTAYSNMTLL | CINMSLSDFY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SSHPETQTRL | VTTVVDSKND | VVTAAAAALD | LITNKEVKAI | LGPWTSMQAQ | FMIEMGQKSQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VPIVTYSATS | PSLASIRSQY | FFRATYDDSS | QVHAIKEIIK | LFGWREVAPV | YVDDTFGEGI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MPRLTDVLQE | INVRIPYRTV | ISPNATDDEI | SVELLRMMTL | PTRVFVVHLV | ELLASRFFAK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ATEIGLMKQG | YVWILTNTIT | DVLSIMNETE | IETMQGVLGV | KTYVPRSKEL | ENFRSRWTKR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FPISDLNVYG | LWAYDATTAL | ALAIEEAGTS | NLTFVKMDAK | RNVSELQGLG | VSQYGPKLLQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TLSRVRFQGL | AGDFQFINGE | LQPSVFEIVN | VNGQGGRTIG | FWMKEYGLFK | NVDQKPASKT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TFSSWQDRLR | PIIWPGDTTS | VPKGWEIPTN | GKRLQIGVPV | NNTFQQFVKA | TRDPITNSTI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FSGFSIDYFE | AVIQAIPYDI | SYDFIPFQDG | GYDALVYQVY | LGKYDAVVAD | TTISSNRSMY |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VDFSLPYTPS | GVGLVVPVKD | SVRRSSTIFL | MPLTLALWLI | SLLSFFIIGL | VVWVLEHRVN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PDFDGPGQYQ | LSTIFWFSFS | IMVFAPRERV | LSFWARVVVI | IWYFLVLVLT | QSYTASLASL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LTTQHLHPTV | TNINSLLAKG | ESVGYQSSFI | LGRLRDSGFS | EASLVSYGSP | EHCDALLSKG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| QAEGGVSAVL | MEVPYVRIFL | GQYCNKYKMV | QTPFKVDGLG | FVFPIGSPLV | ADISRAILKV |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EESNKANQLE | NAWFKPIDES | CPDPLTNPDP | NPSVSFRQLG | FDSFWVLFLV | AAIVCTMALL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KFVYQFLKEN | PNQRNLRVLW | EKFNEPDQKS | YIKDVTKCQC | SSGQGMPKNG | QEGANAVNNG |
| N |