Q9SZI3
Gene name |
NPR2 (At4g26120, F20B18.230) |
Protein name |
Regulatory protein NPR2 |
Names |
BTB/POZ domain-containing protein NPR2 |
Species |
Arabidopsis thaliana (Mouse-ear cress) |
KEGG Pathway |
ath:AT4G26120 |
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 Q9SZI3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9SZI3-F1 | Predicted | AlphaFoldDB |
58 variants for Q9SZI3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| tmp_4_13236460_A_C | 5 | T>P | No | 1000Genomes | |
| ENSVATH06777492 | 14 | D>N | No | 1000Genomes | |
| tmp_4_13236569_C_G | 41 | T>R | No | 1000Genomes | |
| ENSVATH06777496 | 63 | E>A | No | 1000Genomes | |
| tmp_4_13236667_G_T | 74 | A>S | No | 1000Genomes | |
| ENSVATH00538883 | 75 | G>C | No | 1000Genomes | |
| ENSVATH06777498 | 78 | E>K | No | 1000Genomes | |
| ENSVATH06777499 | 80 | S>T | No | 1000Genomes | |
| ENSVATH00538884 | 81 | F>C | No | 1000Genomes | |
| ENSVATH12233627 | 84 | C>Y | No | 1000Genomes | |
| ENSVATH12233628 | 91 | P>S | No | 1000Genomes | |
| ENSVATH06777500 | 102 | E>K | No | 1000Genomes | |
| tmp_4_13236764_C_T | 106 | S>F | No | 1000Genomes | |
| ENSVATH06777502 | 123 | G>S | No | 1000Genomes | |
| tmp_4_13236829_G_T | 128 | V>L | No | 1000Genomes | |
| tmp_4_13236883_G_A | 146 | A>T | No | 1000Genomes | |
| ENSVATH00538886 | 161 | S>P | No | 1000Genomes | |
| tmp_4_13237099_C_A | 194 | D>E | No | 1000Genomes | |
| ENSVATH06777511 | 199 | E>K | No | 1000Genomes | |
| ENSVATH06777512 | 208 | D>E | No | 1000Genomes | |
| ENSVATH06777513 | 213 | T>K | No | 1000Genomes | |
| tmp_4_13237174_G_C | 219 | L>F | No | 1000Genomes | |
| ENSVATH00538888 | 231 | I>L | No | 1000Genomes | |
| tmp_4_13237220_A_T | 235 | S>C | No | 1000Genomes | |
| ENSVATH12233633 | 271 | K>Q | No | 1000Genomes | |
| tmp_4_13237358_G_A | 281 | V>I | No | 1000Genomes | |
| tmp_4_13237445_G_T | 310 | A>S | No | 1000Genomes | |
| tmp_4_13237446_C_T | 310 | A>V | No | 1000Genomes | |
| tmp_4_13237449_A_C | 311 | Y>S | No | 1000Genomes | |
| ENSVATH00538889 | 312 | D>N | No | 1000Genomes | |
| ENSVATH02925105 | 355 | L>I | No | 1000Genomes | |
| ENSVATH06777519 | 358 | T>K | No | 1000Genomes | |
| ENSVATH06777521 | 367 | I>T | No | 1000Genomes | |
| ENSVATH14297298 | 369 | K>E | No | 1000Genomes | |
| ENSVATH00538890 | 374 | A>V | No | 1000Genomes | |
| ENSVATH06777522 | 380 | S>G | No | 1000Genomes | |
| tmp_4_13237659_C_T | 381 | T>M | No | 1000Genomes | |
| ENSVATH00538891 | 394 | I>M | No | 1000Genomes | |
| ENSVATH12233705 | 403 | L>I | No | 1000Genomes | |
| ENSVATH00538892 | 406 | L>V | No | 1000Genomes | |
| ENSVATH08367334 | 412 | S>L | No | 1000Genomes | |
| ENSVATH06777526 | 450 | I>L | No | 1000Genomes | |
| tmp_4_13237987_C_T | 462 | S>F | No | 1000Genomes | |
| ENSVATH12233706 | 464 | L>F | No | 1000Genomes | |
| tmp_4_13238013_G_A | 471 | G>S | No | 1000Genomes | |
| ENSVATH06777528 | 495 | R>K | No | 1000Genomes | |
| tmp_4_13238217_T_G | 511 | C>W | No | 1000Genomes | |
| tmp_4_13238254_C_T | 524 | H>Y | No | 1000Genomes | |
| ENSVATH06777536 | 528 | V>I | No | 1000Genomes | |
| ENSVATH02925106 | 540 | K>N | No | 1000Genomes | |
| ENSVATH06777537 | 555 | S>I | No | 1000Genomes | |
| ENSVATH06777538 | 566 | T>A | No | 1000Genomes | |
| tmp_4_13238384_C_T | 567 | P>L | No | 1000Genomes | |
| ENSVATH06777539 | 572 | A>S | No | 1000Genomes | |
| tmp_4_13238432_G_C | 583 | R>P | No | 1000Genomes | |
| tmp_4_13238443_G_A | 587 | D>N | No | 1000Genomes | |
| ENSVATH12233709 | 596 | Y>N | No | 1000Genomes | |
| ENSVATH06777541 | 599 | G>V | No | 1000Genomes |
2 associated diseases with Q9SZI3
[MIM: 124900]: Deafness, autosomal dominant 1, with or without thrombocytopenia (DFNA1)
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Patients may have mild thrombocytopenia and enlarged platelets, although most of DFNA1 affected individuals do not have significant bleeding tendencies. {ECO:0000269|PubMed:22938506, ECO:0000269|PubMed:26912466, ECO:0000269|PubMed:27808407, ECO:0000269|PubMed:9360932}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 616632]: Seizures, cortical blindness, and microcephaly syndrome (SCBMS)
A severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, short stature, and cortical blindness. {ECO:0000269|PubMed:24781755, ECO:0000269|PubMed:26463574}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Patients may have mild thrombocytopenia and enlarged platelets, although most of DFNA1 affected individuals do not have significant bleeding tendencies. {ECO:0000269|PubMed:22938506, ECO:0000269|PubMed:26912466, ECO:0000269|PubMed:27808407, ECO:0000269|PubMed:9360932}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, short stature, and cortical blindness. {ECO:0000269|PubMed:24781755, ECO:0000269|PubMed:26463574}. Note=The disease is caused by variants affecting the gene represented in this entry.
9 regional properties for Q9SZI3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | ABC transporter-like, ATP-binding domain | 645 - 869 | IPR003439-1 |
| domain | ABC transporter-like, ATP-binding domain | 1294 - 1528 | IPR003439-2 |
| domain | AAA+ ATPase domain | 671 - 846 | IPR003593-1 |
| domain | AAA+ ATPase domain | 1320 - 1505 | IPR003593-2 |
| domain | ABC transporter type 1, transmembrane domain | 327 - 609 | IPR011527-1 |
| domain | ABC transporter type 1, transmembrane domain | 976 - 1257 | IPR011527-2 |
| conserved_site | ABC transporter-like, conserved site | 769 - 783 | IPR017871-1 |
| conserved_site | ABC transporter-like, conserved site | 1431 - 1445 | IPR017871-2 |
| conserved_site | Aldo/keto reductase, conserved site | 302 - 317 | IPR018170 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| defense response to bacterium | Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. |
| defense response to fungus | Reactions triggered in response to the presence of a fungus that act to protect the cell or organism. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| regulation of jasmonic acid mediated signaling pathway | Any process that modulates the frequency, rate or extent of jasmonic acid mediated signaling pathway. |
| regulation of salicylic acid mediated signaling pathway | Any process that modulates the frequency, rate or extent of salicylic acid mediated signaling pathway. |
| systemic acquired resistance, salicylic acid mediated signaling pathway | The series of molecular signals mediated by salicylic acid involved in systemic acquired resistance. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q04861 | NFKB1 | Nuclear factor NF-kappa-B p105 subunit | Gallus gallus (Chicken) | SS |
| P98150 | NFKB2 | Nuclear factor NF-kappa-B p100 subunit | Gallus gallus (Chicken) | SS |
| Q94527 | Rel | Nuclear factor NF-kappa-B p110 subunit | Drosophila melanogaster (Fruit fly) | EV |
| P19838 | NFKB1 | Nuclear factor NF-kappa-B p105 subunit | Homo sapiens (Human) | SS |
| Q99549 | MPHOSPH8 | M-phase phosphoprotein 8 | Homo sapiens (Human) | PR |
| Q00653 | NFKB2 | Nuclear factor NF-kappa-B p100 subunit | Homo sapiens (Human) | SS |
| Q8N9B4 | ANKRD42 | Ankyrin repeat domain-containing protein 42 | Homo sapiens (Human) | PR |
| Q6ZVZ8 | ASB18 | Ankyrin repeat and SOCS box protein 18 | Homo sapiens (Human) | PR |
| Q9CZK6 | Anks3 | Ankyrin repeat and SAM domain-containing protein 3 | Mus musculus (Mouse) | PR |
| P25799 | Nfkb1 | Nuclear factor NF-kappa-B p105 subunit [Cleaved into: Nuclear factor NF-kappa-B p50 subunit] | Mus musculus (Mouse) | EV |
| Q8VHA6 | Asb18 | Ankyrin repeat and SOCS box protein 18 | Mus musculus (Mouse) | PR |
| Q9WTK5 | Nfkb2 | Nuclear factor NF-kappa-B p100 subunit [Cleaved into: Nuclear factor NF-kappa-B p52 subunit] | Mus musculus (Mouse) | EV |
| Q9TZM3 | lrk-1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Caenorhabditis elegans | SS |
| O22265 | CAO | Signal recognition particle 43 kDa protein, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATTTTTTTA | RFSDSYEFSN | TSGNSFFAAE | SSLDYPTEFL | TPPEVSALKL | LSNCLESVFD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SPETFYSDAK | LVLAGGREVS | FHRCILSARI | PVFKSALATV | KEQKSSTTVK | LQLKEIARDY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EVGFDSVVAV | LAYVYSGRVR | SPPKGASACV | DDDCCHVACR | SKVDFMVEVL | YLSFVFQIQE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LVTLYERQFL | EIVDKVVVED | ILVIFKLDTL | CGTTYKKLLD | RCIEIIVKSD | IELVSLEKSL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PQHIFKQIID | IREALCLEPP | KLERHVKNIY | KALDSDDVEL | VKMLLLEGHT | NLDEAYALHF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AIAHCAVKTA | YDLLELELAD | VNLRNPRGYT | VLHVAAMRKE | PKLIISLLMK | GANILDTTLD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GRTALVIVKR | LTKADDYKTS | TEDGTPSLKG | GLCIEVLEHE | QKLEYLSPIE | ASLSLPVTPE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ELRMRLLYYE | NRVALARLLF | PVETETVQGI | AKLEETCEFT | ASSLEPDHHI | GEKRTSLDLN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MAPFQIHEKH | LSRLRALCKT | VELGKRYFKR | CSLDHFMDTE | DLNHLASVEE | DTPEKRLQKK |
| 550 | 560 | 570 | 580 | 590 | |
| QRYMELQETL | MKTFSEDKEE | CGKSSTPKPT | SAVRSNRKLS | HRRLKVDKRD | FLKRPYGNGD |