Q9Y6K9
PR
Gene name |
IKBKG |
Protein name |
NF-kappa-B essential modulator |
Names |
NEMO, FIP-3, IkB kinase-associated protein 1, IKKAP1, Inhibitor of nuclear factor kappa-B kinase subunit gamma, I-kappa-B kinase subunit gamma, IKK-gamma, IKKG, IkB kinase subunit gamma, NF-kappa-B essential modifier |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8517 |
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
16 structures for Q9Y6K9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2JVX | NMR | - | A | 394-419 | PDB |
| 2JVY | NMR | - | A | 394-419 | PDB |
| 3BRT | X-ray | 225 A | B/D | 44-111 | PDB |
| 3BRV | X-ray | 220 A | B/D | 44-111 | PDB |
| 3CL3 | X-ray | 320 A | D/E | 150-272 | PDB |
| 3FX0 | X-ray | 320 A | A/B | 246-337 | PDB |
| 4BWN | X-ray | 227 A | A/B | 258-344 | PDB |
| 5AAY | NMR | - | A | 392-419 | PDB |
| 5LDE | X-ray | 338 A | R/S | 230-249 | PDB |
| 6MI3 | X-ray | 178 A | A/B | 38-129 | PDB |
| 6MI4 | X-ray | 250 A | A/B | 38-129 | PDB |
| 6XX0 | X-ray | 260 A | A/B | 258-344 | PDB |
| 6YEK | X-ray | 320 A | A/B | 258-344 | PDB |
| 7T2U | X-ray | 210 A | E/F | 226-235 | PDB |
| 7TV4 | X-ray | 420 A | B/D | 257-346 | PDB |
| AF-Q9Y6K9-F1 | Predicted | AlphaFoldDB |
191 variants for Q9Y6K9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000012220 rs1569556522 |
38 | M>missing | Immunodeficiency 33 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070949441 RCV000012204 |
44 | E>missing | Incontinentia pigmenti syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_026491 CA219222 RCV001172482 RCV000059069 rs148695964 |
57 | E>K | Immunodeficiency 33 IP; shows the same luciferase activity as the control [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000256164 RCV000012205 CA255890 rs137853323 |
62 | R>* | Incontinentia pigmenti syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002527122 rs782604431 CA10566450 RCV000615929 |
62 | R>Q | Ectodermal dysplasia and immunodeficiency 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001172477 rs2071059718 |
80 | L>P | Immunodeficiency 33 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000030049 rs386134238 |
89 | E>missing | Ectodermal dysplasia and immunodeficiency 1 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_026492 | 90 | K>del | IP; only 46.3% of the activation obtained with the wild-type protein [UniProt] | Yes | UniProt |
|
RCV000059070 RCV001172486 rs179363896 VAR_026493 RCV002470750 CA219225 |
113 | D>N | Immunodeficiency 33 Variant assessed as Somatic; 0.03263 impact. Ectodermal dysplasia and immunodeficiency 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2071063100 RCV001199162 |
120 | Q>* | Incontinentia pigmenti syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_026494 RCV000059071 CA219228 rs179363895 |
123 | R>W | IP; shows the same luciferase activity as the control [UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA121482 RCV000012215 VAR_026495 rs137853328 |
153 | L>R | Ectodermal dysplasia and immunodeficiency 1 EDAID1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA214035 rs386134240 RCV000030051 |
157 | Q>P | Ectodermal dysplasia and immunodeficiency 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_072603 | 170 | L>P | IP [UniProt] | Yes | UniProt |
|
VAR_031958 RCV000059072 RCV000012224 rs179363866 CA121497 |
173 | R>G | Immunodeficiency 33 IMD33 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA16608844 rs1057520292 VAR_072604 RCV000432679 |
173 | R>Q | IP [UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000059073 CA219231 rs179363868 VAR_011320 |
175 | R>P | EDAID1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1198984417 VAR_072605 CA415214536 |
183 | Q>H | IP [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
rs179363869 RCV000059074 VAR_011321 CA219234 |
227 | L>P | EDAID1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2071133474 RCV001251338 RCV002307712 |
236 | Q>* | Incontinentia pigmenti syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2071141016 RCV001172476 |
271 | E>missing | Immunodeficiency 33 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000012221 VAR_011322 rs137853330 CA121488 |
288 | A>G | Ectodermal dysplasia and immunodeficiency 1 EDAID1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs179363867 CA219237 VAR_011323 RCV000589891 RCV000059075 |
311 | D>N | Ectodermal dysplasia and immunodeficiency 1 EDAID1; abolishes binding to polyubiquitin ('K63'-linked and linear) and greatly impairs tandem ubiquitin binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_072606 | 314 | A>P | IP [UniProt] | Yes | UniProt |
|
RCV000012222 VAR_031959 rs137853331 CA121491 |
315 | E>A | Immunodeficiency 33 IMD33; greatly impairs tandem ubiquitin binding. Impairs oligomerization, impairs binding of 'Lys-63'-linked ubiuitin and linear tetra-ubiquitin, impairs TNF-induced NF-kappa-B activation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_031960 RCV000012223 rs137853332 CA121494 |
319 | R>Q | Immunodeficiency 33 IMD33; impairs tandem ubiquitin binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_072607 | 322 | L>P | IP [UniProt] | Yes | UniProt |
|
rs179363865 RCV000059076 VAR_042666 CA219240 |
323 | A>P | IP; diminishes interaction with TRAF6 and polyubiquitination, greatly impairs tandem ubiquitin binding. Impairs oligomerization, greatly impairs binding of 'Lys-63'-linked ubiuitin and linear tetra-ubiquitin, impairs TNF-induced NF-kappa-B activation [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000781477 rs782406063 RCV002536872 CA10566454 |
354 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003162240 RCV000012201 rs1569556615 |
371 | A>missing | Incontinentia pigmenti syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs782178147 RCV000012209 RCV000413717 RCV002506000 RCV001172473 |
390 | E>missing | Immunodeficiency 33 Incontinentia pigmenti syndrome Ectodermal dysplasia and immunodeficiency 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA121470 rs137853324 RCV000760425 RCV000012206 |
391 | E>* | Ectodermal dysplasia and immunodeficiency 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000012213 rs2071167272 |
394 | D>missing | Incontinentia pigmenti syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137853329 CA121485 RCV000012216 |
403 | Q>* | Ectodermal dysplasia and immunodeficiency 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137853327 CA121479 RCV001172474 RCV000024285 VAR_011324 |
406 | D>V | Incontinentia pigmenti syndrome ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED EDAID1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001582474 VAR_009182 rs137853322 CA255887 RCV000012202 |
407 | M>V | Incontinentia pigmenti syndrome IP; impairs binding to ubiquitin [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
| VAR_072608 | 413 | H>Y | IP [UniProt] | Yes | UniProt |
|
rs137853326 RCV000012211 RCV000059068 CA121476 VAR_011325 |
417 | C>F | Ectodermal dysplasia and immunodeficiency 1 EDAID1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000012207 VAR_011326 CA121473 rs137853325 |
417 | C>R | Ectodermal dysplasia and immunodeficiency 1 EDAID1; loss of sumoylation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000059067 VAR_026496 rs137853326 CA219219 |
417 | C>Y | IMD33 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000170521 RCV000012203 rs137853321 CA121467 |
420 | E>W | Incontinentia pigmenti syndrome ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs781827676 CA10566429 |
3 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs782454227 CA10566430 |
5 | L>F | No |
ClinGen ExAC TOPMed |
|
|
CA10566431 rs782576988 |
8 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415204801 rs782576988 |
8 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1240519149 CA415204866 |
10 | L>R | No |
ClinGen TOPMed |
|
|
rs1333953110 CA415204922 |
13 | M>V | No |
ClinGen TOPMed |
|
|
CA10566432 rs782297181 |
16 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA415205098 rs1557235176 |
17 | S>G | No |
ClinGen gnomAD |
|
|
CA10566433 rs782533747 |
19 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1557235178 CA415205201 |
19 | G>S | No |
ClinGen gnomAD |
|
|
rs919093186 CA337295805 |
20 | P>L | No |
ClinGen gnomAD |
|
|
rs782236286 CA10566435 |
21 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 23 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1377041064 CA415205477 |
26 | V>I | No |
ClinGen TOPMed |
|
|
rs1557235193 CA415205537 |
27 | L>P | No |
ClinGen gnomAD |
|
|
CA415205518 rs1310775515 |
27 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782594565 CA10566437 |
28 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1557235195 CA415205547 |
28 | G>S | No |
ClinGen gnomAD |
|
|
rs1160400371 CA415205569 |
29 | E>Q | No |
ClinGen TOPMed |
|
|
CA10566439 rs782167422 |
40 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs782030098 CA10566440 |
41 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782141440 CA10566441 |
45 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA415206038 rs1557235211 |
45 | Q>R | No |
ClinGen gnomAD |
|
|
rs1189251503 CA415206043 |
46 | G>S | No |
ClinGen TOPMed |
|
|
CA10566443 rs143999678 |
47 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782087958 CA10566444 |
48 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782717047 CA10566445 |
50 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10566446 rs377406996 |
51 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1039026297 CA337295900 |
53 | R>C | No |
ClinGen TOPMed |
|
|
CA10566447 rs782173858 |
53 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA415206272 rs782813189 |
54 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA10566448 rs782813189 |
54 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs901820688 CA337295924 |
55 | L>V | No |
ClinGen Ensembl |
|
|
CA10566449 rs782517338 |
58 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1557235246 CA415206470 |
60 | E>D | No |
ClinGen gnomAD |
|
|
rs1443987084 CA415209104 |
66 | R>Q | No |
ClinGen TOPMed |
|
|
rs1161097032 CA415209102 |
66 | R>W | No |
ClinGen TOPMed |
|
|
rs1248550086 CA415209153 |
69 | N>S | No |
ClinGen TOPMed |
|
|
CA415209169 rs1195142119 |
70 | Q>R | No |
ClinGen TOPMed |
|
|
rs1445067675 CA415209197 |
72 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1210688421 CA415209220 |
73 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1210688421 CA415209215 |
73 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA415209211 rs1260704459 |
73 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
RCV000413129 rs1057517874 |
74 | E>missing | No |
ClinVar dbSNP |
|
|
CA415209255 rs1289735937 |
75 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 76 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557236044 CA415209365 |
81 | H>R | No |
ClinGen gnomAD |
|
|
rs1603418499 CA415209428 |
85 | S>G | No |
ClinGen Ensembl |
|
|
CA415209487 rs1343575195 |
88 | E>G | No |
ClinGen TOPMed |
|
|
rs1557236051 CA415209603 |
94 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 96 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415209840 rs1603418508 |
101 | R>M | No |
ClinGen Ensembl |
|
|
rs1603418512 CA415209928 |
105 | E>* | No |
ClinGen Ensembl |
|
|
CA415209958 rs1603418514 |
106 | R>S | No |
ClinGen Ensembl |
|
|
rs1326226158 CA415209986 |
108 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA415209981 rs1326226158 |
108 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA415209978 rs1326226158 |
108 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1603418519 CA415210001 |
109 | L>R | No |
ClinGen Ensembl |
|
|
rs1387031336 CA415210035 |
111 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA415210177 rs1423448861 |
116 | R>T | No |
ClinGen TOPMed |
|
|
CA415210337 rs1474356329 |
122 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1557236066 CA415210357 |
123 | R>Q | No |
ClinGen gnomAD |
|
|
rs1199269584 CA415210406 |
126 | E>K | No |
ClinGen TOPMed |
|
|
CA415210448 rs1490916388 |
127 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA415210564 rs1267021895 |
131 | C>R | No |
ClinGen TOPMed |
|
|
CA415210660 rs1603418535 |
133 | Q>* | No |
ClinGen Ensembl |
|
|
CA415213764 rs1189689328 |
137 | E>K | No |
ClinGen TOPMed |
|
|
rs1487057125 CA415213871 |
140 | A>D | No |
ClinGen TOPMed |
|
|
rs1240669573 CA415213927 |
143 | K>E | No |
ClinGen TOPMed |
|
|
CA415213995 rs1315922298 |
146 | V>M | No |
ClinGen TOPMed |
|
|
RCV000756275 rs1569556582 CA415214030 |
147 | T>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415214081 rs1247511735 |
151 | G>R | No |
ClinGen TOPMed |
|
|
rs1557236141 CA415214156 |
156 | S>G | No |
ClinGen Ensembl |
|
| TCGA novel | 156 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415214207 rs1314295429 |
159 | R>C | No |
ClinGen TOPMed |
|
|
rs1215029143 CA415214209 |
159 | R>H | No |
ClinGen TOPMed |
|
|
CA415214212 rs1215029143 |
159 | R>L | No |
ClinGen TOPMed |
|
| TCGA novel | 159 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286858297 CA415214222 |
160 | L>S | No |
ClinGen TOPMed |
|
|
rs1366404191 CA415214279 |
164 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 166 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415214306 RCV000489722 rs1085308018 |
166 | E>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 167 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1057521138 RCV000442216 CA16608843 |
168 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 169 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs179363866 CA415214391 |
173 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA415214448 rs1464194707 |
175 | R>W | No |
ClinGen TOPMed |
|
|
rs1376614901 CA415214457 |
176 | A>V | No |
ClinGen TOPMed |
|
|
CA415214458 rs1441533736 |
177 | A>T | No |
ClinGen TOPMed |
|
|
CA415214461 rs1378401125 |
177 | A>V | No |
ClinGen TOPMed |
|
|
rs1461616022 CA415214511 |
181 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA415214552 rs1483033012 |
185 | E>Q | No |
ClinGen TOPMed |
|
|
rs1261442109 CA415214577 |
186 | S>R | No |
ClinGen TOPMed |
|
|
rs1241265603 CA415214598 |
188 | R>C | No |
ClinGen TOPMed |
|
|
rs1351511834 CA415214603 |
188 | R>H | No |
ClinGen TOPMed |
|
|
rs1247287360 CA415214629 |
190 | A>T | No |
ClinGen TOPMed |
|
|
CA415214639 rs1603418856 |
191 | L>V | No |
ClinGen Ensembl |
|
|
rs1603418858 CA415214649 |
192 | Q>E | No |
ClinGen Ensembl |
|
|
rs1310986908 CA415214656 |
192 | Q>R | No |
ClinGen TOPMed |
|
|
rs1603418860 CA415214714 |
196 | S>C | No |
ClinGen Ensembl |
|
|
rs1401035277 CA415214727 |
197 | V>M | No |
ClinGen TOPMed |
|
|
CA415214814 rs1289011398 |
203 | R>C | No |
ClinGen TOPMed |
|
|
rs1420994299 CA415214818 |
203 | R>H | No |
ClinGen TOPMed |
|
|
rs1358010511 CA415214846 |
205 | Q>* | No |
ClinGen TOPMed |
|
|
rs1445129906 CA415214870 |
207 | Q>K | No |
ClinGen TOPMed |
|
|
CA415214899 rs1370021685 |
208 | S>R | No |
ClinGen TOPMed |
|
|
CA415214956 rs1218995596 |
212 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 214 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1285348447 CA415214978 |
214 | R>H | No |
ClinGen TOPMed |
|
|
rs1223936101 CA415214998 |
215 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
RCV000478080 rs1064794135 |
221 | S>missing | No |
ClinVar dbSNP |
|
|
RCV000493340 rs1557236517 |
222 | E>missing | No |
ClinVar dbSNP |
|
|
CA415215445 RCV000498451 rs1557236565 |
241 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415215784 RCV000489030 rs1085307986 |
254 | R>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1085307883 RCV000489758 CA415215821 |
256 | R>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415215904 rs1310793916 |
258 | M>V | No |
ClinGen TOPMed |
|
|
RCV000523493 rs1237384577 |
265 | Q>missing | No |
ClinVar dbSNP |
|
|
CA415216085 rs1375653503 |
265 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 280 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 282 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1357795792 CA415216439 |
283 | K>R | No |
ClinGen TOPMed |
|
|
CA415216490 rs1334004401 |
284 | L>R | No |
ClinGen TOPMed |
|
|
RCV000579283 rs1156900338 CA415216683 |
290 | Q>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1439199493 CA415216781 |
292 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 295 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183832299 CA415217035 |
299 | P>L | No |
ClinGen TOPMed |
|
|
rs1557236696 CA415218461 |
350 | S>L | No |
ClinGen gnomAD |
|
|
CA415218582 rs1557236758 |
353 | I>M | No |
ClinGen gnomAD |
|
|
rs1557236764 CA415218663 |
357 | R>K | No |
ClinGen Ensembl |
|
|
CA415218710 rs1557236772 |
359 | R>Q | No |
ClinGen gnomAD |
|
|
CA415218709 rs1557236769 |
359 | R>W | No |
ClinGen gnomAD |
|
|
rs1603419038 CA415218802 |
363 | V>G | No |
ClinGen Ensembl |
|
|
CA415218852 rs1557236781 |
366 | A>D | No |
ClinGen gnomAD |
|
|
rs1064794340 RCV000482645 |
369 | P>missing | No |
ClinVar dbSNP |
|
|
CA415218906 rs1557236784 |
369 | P>A | No |
ClinGen TOPMed |
|
|
CA415218934 rs1557236792 |
371 | A>S | No |
ClinGen gnomAD |
|
|
CA415219011 rs1557236854 |
374 | Y>S | No |
ClinGen gnomAD |
|
|
rs1557236860 CA415219029 |
375 | L>F | No |
ClinGen gnomAD |
|
|
CA415219224 rs1557236862 |
380 | A>G | No |
ClinGen gnomAD |
|
|
CA415219267 rs1557236864 |
382 | P>S | No |
ClinGen gnomAD |
|
|
CA415219375 rs1557236866 |
385 | R>T | No |
ClinGen gnomAD |
|
|
CA10566456 rs782655513 |
389 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1557236876 CA415219561 |
392 | P>S | No |
ClinGen gnomAD |
|
|
rs1557236879 CA415219594 |
393 | P>L | No |
ClinGen gnomAD |
|
|
rs1557236879 CA415219603 |
393 | P>R | No |
ClinGen gnomAD |
|
|
CA415219699 rs1557236884 |
396 | C>S | No |
ClinGen gnomAD |
|
|
rs1557236888 CA415219768 |
399 | K>E | No |
ClinGen gnomAD |
|
|
rs1557236899 CA415219998 |
405 | P>S | No |
ClinGen gnomAD |
|
|
CA16621264 RCV000486745 rs1064793564 |
420 | E>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415220602 RCV000522162 rs1557236929 |
420 | E>Y | No |
ClinGen ClinVar dbSNP gnomAD |
4 associated diseases with Q9Y6K9
[MIM: 300291]: Ectodermal dysplasia and immunodeficiency 1 (EDAID1)
A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDAID1 is an X-linked recessive disorder characterized by absence of sweat glands, sparse scalp hair, rare conical teeth and immunological abnormalities resulting in severe infectious diseases. Severely affected individuals may also show lymphedema, osteopetrosis, and, rarely, hematologic abnormalities. The phenotype is highly variable, and may be fatal in childhood. {ECO:0000269|PubMed:11047757, ECO:0000269|PubMed:11224521, ECO:0000269|PubMed:11242109, ECO:0000269|PubMed:12045264, ECO:0000269|PubMed:14651848, ECO:0000269|PubMed:15100680, ECO:0000269|PubMed:16547522, ECO:0000269|PubMed:19185524, ECO:0000269|PubMed:21606507}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 300636]: Immunodeficiency 33 (IMD33)
An X-linked recessive disorder characterized by variably impaired immunologic function and early-onset recurrent infections, usually due to pneumococcus, H. influenzae, and atypical mycobacteria. Features of hypohidrotic ectodermal dysplasia are generally not present, although some patients may have conical teeth or hypodontia. {ECO:0000269|PubMed:15100680, ECO:0000269|PubMed:15356572, ECO:0000269|PubMed:16818673, ECO:0000269|PubMed:16950813, ECO:0000269|PubMed:19185524, ECO:0000269|PubMed:19854204}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 308300]: Incontinentia pigmenti (IP)
A genodermatosis usually prenatally lethal in males. In affected females, it causes abnormalities of the skin, hair, eyes, nails, teeth, skeleton, heart, and central nervous system. The prominent skin signs occur in four classic cutaneous stages
[MIM: 301081]: Autoinflammatory disease, systemic, X-linked (SAIDX)
An X-linked disorder characterized by systemic autoinflammation appearing in the first months of life. Clinical manifestations are variable, including lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional features may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. {ECO:0000269|PubMed:31874111, ECO:0000269|PubMed:35289316}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDAID1 is an X-linked recessive disorder characterized by absence of sweat glands, sparse scalp hair, rare conical teeth and immunological abnormalities resulting in severe infectious diseases. Severely affected individuals may also show lymphedema, osteopetrosis, and, rarely, hematologic abnormalities. The phenotype is highly variable, and may be fatal in childhood. {ECO:0000269|PubMed:11047757, ECO:0000269|PubMed:11224521, ECO:0000269|PubMed:11242109, ECO:0000269|PubMed:12045264, ECO:0000269|PubMed:14651848, ECO:0000269|PubMed:15100680, ECO:0000269|PubMed:16547522, ECO:0000269|PubMed:19185524, ECO:0000269|PubMed:21606507}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An X-linked recessive disorder characterized by variably impaired immunologic function and early-onset recurrent infections, usually due to pneumococcus, H. influenzae, and atypical mycobacteria. Features of hypohidrotic ectodermal dysplasia are generally not present, although some patients may have conical teeth or hypodontia. {ECO:0000269|PubMed:15100680, ECO:0000269|PubMed:15356572, ECO:0000269|PubMed:16818673, ECO:0000269|PubMed:16950813, ECO:0000269|PubMed:19185524, ECO:0000269|PubMed:19854204}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- A genodermatosis usually prenatally lethal in males. In affected females, it causes abnormalities of the skin, hair, eyes, nails, teeth, skeleton, heart, and central nervous system. The prominent skin signs occur in four classic cutaneous stages
- An X-linked disorder characterized by systemic autoinflammation appearing in the first months of life. Clinical manifestations are variable, including lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional features may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. {ECO:0000269|PubMed:31874111, ECO:0000269|PubMed:35289316}. Note=The disease is caused by variants affecting the gene represented in this entry.
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| IkappaB kinase complex | A trimeric protein complex that phosphorylates inhibitory-kappaB (I-kappaB) proteins. The complex is composed of two kinase subunits (alpha and beta) and a regulatory gamma subunit (also called NEMO). In a resting state, NF-kappaB dimers are bound to inhibitory IKB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription. |
| mitotic spindle | A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| spindle pole | Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules. |
| ubiquitin ligase complex | A protein complex that includes a ubiquitin-protein ligase and enables ubiquitin protein ligase activity. The complex also contains other proteins that may confer substrate specificity on the complex. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| K63-linked polyubiquitin modification-dependent protein binding | Binding to a protein upon poly-ubiquitination formed by linkages between lysine residues at position 63 in the target protein. |
| linear polyubiquitin binding | Binding to a linear polymer of ubiquitin. Linear ubiquitin polymers are formed by linking the amino-terminal methionine (M1) of one ubiquitin molecule to the carboxy-terminal glycine (G76) of the next. |
| metal ion binding | Binding to a metal ion. |
| protein domain specific binding | Binding to a specific domain of a protein. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| transferrin receptor binding | Binding to a transferrin receptor. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
18 GO annotations of biological process
| Name | Definition |
|---|---|
| anoikis | Apoptosis triggered by inadequate or inappropriate adherence to substrate e.g. after disruption of the interactions between normal epithelial cells and the extracellular matrix. |
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| cellular response to DNA damage 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 a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| establishment of vesicle localization | The directed movement of a vesicle to a specific location. |
| I-kappaB kinase/NF-kappaB signaling | The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription. |
| immune response | Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. |
| inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| negative regulation of neuron death | Any process that stops, prevents or reduces the frequency, rate or extent of neuron death. |
| positive regulation of I-kappaB kinase/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
| positive regulation of macroautophagy | Any process, such as recognition of nutrient depletion, that activates or increases the rate of macroautophagy to bring cytosolic macromolecules to the vacuole/lysosome for degradation. |
| positive regulation of NF-kappaB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. |
| positive regulation of T cell receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of signaling pathways initiated by the cross-linking of an antigen receptor on a T cell. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| protein-containing complex assembly | The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. |
| regulation of I-kappaB kinase/NF-kappaB signaling | Any process that modulates I-kappaB kinase/NF-kappaB signaling. |
| response to virus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. |
| T cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8K3K8 | Optn | Optineurin | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNRHLWKSQL | CEMVQPSGGP | AADQDVLGEE | SPLGKPAMLH | LPSEQGAPET | LQRCLEENQE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LRDAIRQSNQ | ILRERCEELL | HFQASQREEK | EFLMCKFQEA | RKLVERLGLE | KLDLKRQKEQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ALREVEHLKR | CQQQMAEDKA | SVKAQVTSLL | GELQESQSRL | EAATKECQAL | EGRARAASEQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ARQLESEREA | LQQQHSVQVD | QLRMQGQSVE | AALRMERQAA | SEEKRKLAQL | QVAYHQLFQE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YDNHIKSSVV | GSERKRGMQL | EDLKQQLQQA | EEALVAKQEV | IDKLKEEAEQ | HKIVMETVPV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LKAQADIYKA | DFQAERQARE | KLAEKKELLQ | EQLEQLQREY | SKLKASCQES | ARIEDMRKRH |
| 370 | 380 | 390 | 400 | 410 | |
| VEVSQAPLPP | APAYLSSPLA | LPSQRRSPPE | EPPDFCCPKC | QYQAPDMDTL | QIHVMECIE |