P28070
PR
Gene name |
PSMB4 (PROS26) |
Protein name |
Proteasome subunit beta type-4 |
Names |
26 kDa prosomal protein, HsBPROS26, PROS-26, Macropain beta chain, Multicatalytic endopeptidase complex beta chain, Proteasome beta chain, Proteasome chain 3, HsN3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5692 |
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
88 structures for P28070
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4R3O | X-ray | 260 A | 2/N | 46-262 | PDB |
| 4R67 | X-ray | 289 A | 2/N/b/p | 46-262 | PDB |
| 5A0Q | EM | 350 A | N/b | 46-264 | PDB |
| 5GJQ | EM | 450 A | g/u | 1-264 | PDB |
| 5GJR | EM | 350 A | g/u | 1-264 | PDB |
| 5L4G | EM | 402 A | 4/X | 1-264 | PDB |
| 5LE5 | X-ray | 180 A | M/a | 46-264 | PDB |
| 5LEX | X-ray | 220 A | M/a | 46-264 | PDB |
| 5LEY | X-ray | 190 A | M/a | 46-264 | PDB |
| 5LEZ | X-ray | 219 A | M/a | 46-264 | PDB |
| 5LF0 | X-ray | 241 A | M/a | 46-264 | PDB |
| 5LF1 | X-ray | 200 A | M/a | 46-264 | PDB |
| 5LF3 | X-ray | 210 A | M/a | 46-264 | PDB |
| 5LF4 | X-ray | 199 A | M/a | 46-264 | PDB |
| 5LF6 | X-ray | 207 A | M/a | 46-264 | PDB |
| 5LF7 | X-ray | 200 A | M/a | 46-264 | PDB |
| 5LN3 | EM | 680 A | 7 | 1-264 | PDB |
| 5M32 | EM | 380 A | M/a | 1-264 | PDB |
| 5T0C | EM | 380 A | AT/BT | 2-264 | PDB |
| 5T0G | EM | 440 A | T | 2-264 | PDB |
| 5T0H | EM | 680 A | T | 2-264 | PDB |
| 5T0I | EM | 800 A | T | 2-264 | PDB |
| 5T0J | EM | 800 A | T | 2-264 | PDB |
| 5VFO | EM | 350 A | T/t | 46-260 | PDB |
| 5VFP | EM | 420 A | T/t | 46-260 | PDB |
| 5VFQ | EM | 420 A | T/t | 46-260 | PDB |
| 5VFR | EM | 490 A | T/t | 46-260 | PDB |
| 5VFS | EM | 360 A | T/t | 46-260 | PDB |
| 5VFT | EM | 700 A | T/t | 46-260 | PDB |
| 5VFU | EM | 580 A | T/t | 46-260 | PDB |
| 6AVO | EM | 380 A | W/a | 46-264 | PDB |
| 6E5B | X-ray | 277 A | M/a | 1-264 | PDB |
| 6KWY | EM | 272 A | M/a | 1-264 | PDB |
| 6MSB | EM | 300 A | T/t | 2-264 | PDB |
| 6MSD | EM | 320 A | T/t | 2-264 | PDB |
| 6MSE | EM | 330 A | B | 108-158 | PDB |
| 6MSG | EM | 350 A | T/t | 2-264 | PDB |
| 6MSH | EM | 360 A | T/t | 2-264 | PDB |
| 6MSJ | EM | 330 A | T/t | 2-264 | PDB |
| 6MSK | EM | 320 A | T/t | 2-264 | PDB |
| 6R70 | EM | 350 A | M/a | 46-261 | PDB |
| 6REY | EM | 300 A | N/b | 46-264 | PDB |
| 6RGQ | EM | 260 A | N/b | 46-264 | PDB |
| 6WJD | EM | 480 A | T/t | 2-264 | PDB |
| 6WJN | EM | 570 A | T/t | 46-260 | PDB |
| 6XMJ | EM | 300 A | N | 46-262 | PDB |
| 7AWE | X-ray | 229 A | N/b | 46-259 | PDB |
| 7B12 | X-ray | 243 A | 2/N | 46-259 | PDB |
| 7LXV | EM | 340 A | M/a | 46-264 | PDB |
| 7NAN | EM | 280 A | M/a | 1-264 | PDB |
| 7NAO | EM | 290 A | M/a | 1-264 | PDB |
| 7NAP | EM | 320 A | M/a | 1-264 | PDB |
| 7NAQ | EM | 320 A | M/a | 1-264 | PDB |
| 7NHT | EM | 280 A | M | 1-264 | PDB |
| 7PG9 | EM | 370 A | N/b | 46-264 | PDB |
| 7QXN | EM | 370 A | T/t | 2-264 | PDB |
| 7QXP | EM | 360 A | T/t | 2-264 | PDB |
| 7QXU | EM | 430 A | T/t | 2-264 | PDB |
| 7QXW | EM | 410 A | T/t | 2-264 | PDB |
| 7QXX | EM | 440 A | T/t | 2-264 | PDB |
| 7QY7 | EM | 470 A | T/t | 2-264 | PDB |
| 7QYA | EM | 480 A | T/t | 2-264 | PDB |
| 7QYB | EM | 410 A | T/t | 2-264 | PDB |
| 7V5G | EM | 447 A | G/N | 46-264 | PDB |
| 7V5M | EM | 388 A | N/b | 46-264 | PDB |
| 7W37 | EM | 300 A | T/t | 1-264 | PDB |
| 7W38 | EM | 310 A | T/t | 1-264 | PDB |
| 7W39 | EM | 320 A | T/t | 1-264 | PDB |
| 7W3A | EM | 350 A | T/t | 1-264 | PDB |
| 7W3B | EM | 360 A | T/t | 1-264 | PDB |
| 7W3C | EM | 340 A | T/t | 1-264 | PDB |
| 7W3F | EM | 330 A | T/t | 1-264 | PDB |
| 7W3G | EM | 320 A | T/t | 1-264 | PDB |
| 7W3H | EM | 320 A | T/t | 1-264 | PDB |
| 7W3I | EM | 350 A | T/t | 1-264 | PDB |
| 7W3J | EM | 350 A | T/t | 1-264 | PDB |
| 7W3K | EM | 360 A | T/t | 1-264 | PDB |
| 7W3M | EM | 350 A | T/t | 1-264 | PDB |
| 8BZL | X-ray | 214 A | M/a | 1-264 | PDB |
| 8CVR | EM | 270 A | N/b | 1-264 | PDB |
| 8CVS | EM | 310 A | M/a | 1-264 | PDB |
| 8CVT | EM | 300 A | T/t | 1-264 | PDB |
| 8CXB | EM | 290 A | M/a | 1-264 | PDB |
| 8QYN | EM | 288 A | P | 1-264 | PDB |
| 8QYO | EM | 284 A | M/a | 1-264 | PDB |
| 8QYS | EM | 389 A | P/g | 50-257 | PDB |
| 8UD9 | EM | 204 A | N/b | 46-264 | PDB |
| AF-P28070-F1 | Predicted | AlphaFoldDB |
235 variants for P28070
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1235715459 RCV000663377 RCV002530604 |
16 | P>missing | Proteasome-associated autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001335065 RCV002547334 rs777632466 CA1090660 RCV002546711 |
158 | G>R | Proteasome-associated autoinflammatory syndrome 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000663375 rs1553209362 |
212 | D>missing | Proteasome-associated autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_075255 | 212 | D>del | PRAAS3; decreased protein maturation; changed proteasome assembly; poor incorporation into 20S and 26S proteasomes [UniProt] | Yes | UniProt |
|
RCV000663378 CA341926961 rs1553209373 |
222 | Y>* | Proteasome-associated autoinflammatory syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_081126 | 222 | Y>del | PRAAS3; digenic inheritance; patient also carries a mutation in PSMB8; no effect on protein abundance; changed proteasome assembly; poor incorporation into 20S and 26S proteasomes [UniProt] | Yes | UniProt |
|
rs372329683 CA29562840 |
3 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 4 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA29562849 rs916235342 |
5 | L>* | No |
ClinGen TOPMed |
|
|
rs916235342 CA341918909 |
5 | L>W | No |
ClinGen TOPMed |
|
|
rs1311094184 CA341918941 |
6 | G>V | No |
ClinGen gnomAD |
|
|
CA1090551 rs780723106 |
7 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049463156 CA29562867 |
8 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1049463156 CA341918975 |
8 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA29562856 rs11557384 |
8 | R>W | No |
ClinGen gnomAD |
|
|
CA341918987 rs768718256 |
9 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768718256 CA1090553 COSM675462 |
9 | S>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA341919002 rs1205598659 |
10 | G>A | No |
ClinGen TOPMed |
|
|
CA1090554 rs11557386 |
10 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748325633 CA1090555 |
12 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA29562887 rs770030168 |
13 | A>E | No |
ClinGen ExAC TOPMed |
|
|
RCV001310536 CA1090556 rs770030168 |
13 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
|
CA341919102 rs1415641906 CA341919105 |
14 | G>R | No |
ClinGen gnomAD |
|
|
CA341919119 rs111502283 |
15 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341919140 rs1442613005 |
15 | G>D | No |
ClinGen TOPMed |
|
|
CA1090558 rs111502283 |
15 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341919136 rs111502283 |
15 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442613005 CA341919143 |
15 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 16 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771817722 CA1090559 |
16 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760532671 CA341919169 |
17 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1090561 rs760532671 |
17 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341919186 rs1300175557 |
17 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA29562913 rs545969743 |
18 | P>S | No |
ClinGen 1000Genomes |
|
| TCGA novel | 19 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753420632 CA1090563 |
20 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA341919350 rs1571304612 |
22 | Y>S | No |
ClinGen Ensembl |
|
|
COSM1639499 CA1090565 rs115066321 |
23 | R>H | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA1090564 rs761449014 |
23 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341919423 rs1241669036 |
26 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1381259372 CA341919430 |
27 | T>A | No |
ClinGen gnomAD |
|
|
CA341919450 rs1286156033 |
27 | T>I | No |
ClinGen gnomAD |
|
|
CA1090567 rs758828536 |
29 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1090568 rs780283759 |
31 | F>L | No |
ClinGen ExAC TOPMed |
|
|
rs752044137 CA1090569 |
32 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA29562968 rs752044137 |
32 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 33 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs898282852 CA29562976 |
34 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs898282852 CA341919610 |
34 | P>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 34 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1050423331 CA29562986 |
36 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA29562997 rs113331137 |
41 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA29562993 rs375090204 |
41 | G>S | No |
ClinGen Ensembl |
|
|
CA1090571 rs113331137 |
41 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3801826 rs1160503000 CA341919779 |
42 | P>A | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA341919780 rs1160503000 |
42 | P>S | No |
ClinGen gnomAD |
|
|
rs748199140 CA1090572 |
44 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1308655589 CA341919913 |
47 | Q>R | No |
ClinGen TOPMed |
|
|
rs757443666 CA1090597 |
50 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1090598 rs779858337 |
51 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs746758423 CA1090599 |
52 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA341920332 rs1380433434 |
58 | G>A | No |
ClinGen gnomAD |
|
|
CA341920333 rs1020706621 |
59 | V>I | No |
ClinGen TOPMed |
|
|
CA29563264 rs1020706621 |
59 | V>L | No |
ClinGen TOPMed |
|
|
rs1571304868 CA341920592 |
62 | E>D | No |
ClinGen Ensembl |
|
|
rs371543427 CA1090602 |
67 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1171898856 CA341920775 |
69 | A>V | No |
ClinGen gnomAD |
|
|
rs11557388 CA29563283 |
70 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 71 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295271311 CA341920891 |
74 | S>Y | No |
ClinGen TOPMed |
|
|
rs1415482883 CA889335806 |
75 | Y>* | No |
ClinGen TOPMed |
|
|
CA1090603 rs199924460 |
75 | Y>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772867689 COSM224171 CA1090605 |
77 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs762622171 CA1090607 |
80 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1090606 rs762622171 |
80 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 82 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 82 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1090609 rs759810305 |
83 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs373620750 CA1090610 |
83 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753138351 CA1090613 |
84 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA1090611 rs1553209137 |
84 | I>V | No |
ClinGen Ensembl |
|
|
CA341921260 rs1332469735 |
86 | R>C | No |
ClinGen TOPMed |
|
| TCGA novel | 86 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764111801 CA1090615 |
88 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 89 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1229910486 CA341921358 |
89 | R>Q | No |
ClinGen gnomAD |
|
|
CA341921500 CA1090617 rs757407255 |
92 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216068220 CA341921506 |
93 | S>G | No |
ClinGen gnomAD |
|
|
rs1043321002 CA29563335 |
94 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1804241 VAR_012072 CA29563339 CA1090620 |
95 | M>I | No |
ClinGen ExAC gnomAD UniProt dbSNP |
|
|
CA1090619 rs746166868 |
95 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571304933 CA341921624 |
96 | L>V | No |
ClinGen Ensembl |
|
|
CA341921656 rs1368213434 |
97 | G>A | No |
ClinGen gnomAD |
|
|
rs11557387 CA29563340 |
97 | G>S | No |
ClinGen Ensembl |
|
|
CA1090621 rs781145839 |
98 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA341921763 COSM1295050 rs1415169682 |
101 | D>N | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 102 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1090623 rs769879926 |
103 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286813369 CA341921994 |
105 | F>C | No |
ClinGen gnomAD |
|
|
rs1295872154 CA341922014 |
106 | Q>L | No |
ClinGen gnomAD |
|
|
rs777893016 CA1090624 |
107 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1557854444 CA341922139 |
110 | Q>H | No |
ClinGen Ensembl |
|
|
rs1400271177 CA341922138 |
110 | Q>R | No |
ClinGen gnomAD |
|
|
CA341922174 rs1333119600 |
112 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1090627 rs372581320 |
113 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs568410343 CA1090628 |
114 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759234136 CA1090629 |
115 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA29563521 rs933171351 |
117 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1090646 rs778500444 |
119 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA341923588 rs1379137718 |
122 | L>V | No |
ClinGen gnomAD |
|
|
CA341923667 rs1285532281 |
125 | G>E | No |
ClinGen TOPMed |
|
|
rs745464020 CA1090647 |
126 | H>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 126 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771743580 CA1090648 |
127 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571305083 CA341923750 |
127 | S>I | No |
ClinGen Ensembl |
|
|
rs775164354 CA1090649 |
128 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1090650 rs761013630 |
131 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA1090652 rs776935448 |
133 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341924141 rs1240575919 |
139 | R>M | No |
ClinGen gnomAD |
|
|
rs762393225 CA1090653 |
141 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA341924196 rs1197614988 |
141 | M>T | No |
ClinGen gnomAD |
|
|
rs765179156 CA1090654 |
142 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs910660327 CA29563582 |
142 | Y>F | No |
ClinGen Ensembl |
|
|
rs201438006 CA29563571 |
142 | Y>H | No |
ClinGen Ensembl |
|
|
CA341924232 rs910660327 |
142 | Y>S | No |
ClinGen Ensembl |
|
|
rs750544134 CA1090655 |
143 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA29563594 rs140771260 |
144 | R>Q | No |
ClinGen ESP |
|
|
CA29563593 rs367717074 |
144 | R>W | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 145 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1090656 rs763162526 |
149 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA29563597 rs3209764 |
149 | N>Y | No |
ClinGen Ensembl |
|
|
CA341924478 rs1333211778 |
151 | L>V | No |
ClinGen gnomAD |
|
|
CA341924618 rs371316814 |
156 | V>I | No |
ClinGen Ensembl |
|
|
rs371316814 RCV001338577 CA29563602 |
156 | V>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1090659 rs751892201 |
157 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA341924685 rs1340637901 |
158 | G>A | No |
ClinGen TOPMed |
|
|
rs894848845 CA29563611 |
160 | Y>C | No |
ClinGen TOPMed |
|
|
rs753664008 CA1090661 |
160 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1090662 rs757243651 |
161 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs778248319 CA1090663 |
161 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341924804 rs3209765 |
163 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1090664 rs745352663 |
165 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA1090684 rs757837361 |
168 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 172 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341925262 rs1419921260 |
173 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1419921260 CA341925264 |
173 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1090686 rs746614860 |
174 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA341925347 rs1370187294 |
176 | A>P | No |
ClinGen gnomAD |
|
|
CA29563884 rs993355830 |
177 | Y>C | No |
ClinGen Ensembl |
|
|
CA341925485 rs1236846242 |
180 | P>A | No |
ClinGen TOPMed |
|
|
CA1090689 rs11557382 |
181 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM895800 rs866266207 CA29563927 |
183 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA1090690 rs748519387 |
183 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA341925603 rs1290875646 |
184 | T>S | No |
ClinGen gnomAD |
|
|
CA29563941 rs11557385 |
186 | Y>C | No |
ClinGen Ensembl |
|
|
rs3209715 CA29563947 |
190 | L>F | No |
ClinGen Ensembl |
|
|
CA341925832 rs770110723 |
191 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770110723 CA1090691 |
191 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773855644 CA1090692 |
192 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs762773006 CA1090720 |
193 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs766279607 CA1090721 |
195 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1090722 rs372714296 |
196 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1090723 rs759078385 |
196 | R>Q | No |
ClinGen ExAC TOPMed |
|
|
rs570825621 CA341926144 |
197 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1090725 rs539703644 |
197 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs570825621 CA1090724 |
197 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341926160 rs1331187901 |
198 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA341926152 rs1331187901 |
198 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1090726 rs755747531 |
199 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA29564264 rs553152067 |
200 | E>G | No |
ClinGen 1000Genomes |
|
|
rs1571305999 CA341926226 |
201 | K>N | No |
ClinGen Ensembl |
|
|
rs778245626 CA29564269 |
204 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1090727 rs778245626 |
204 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251817715 CA341926377 |
206 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1279666584 CA341926381 |
206 | S>N | No |
ClinGen gnomAD |
|
|
rs1366324309 CA341926398 |
207 | Q>* | No |
ClinGen gnomAD |
|
|
rs754226157 CA1090728 |
207 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA29564292 rs202077271 |
209 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1090729 rs202077271 |
209 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 210 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1090731 rs746429584 |
211 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546112706 CA1090732 |
211 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA341926564 rs546112706 |
211 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746429584 CA341926554 |
211 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1090733 rs780019985 |
212 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1488212650 CA341926616 |
212 | D>G | No |
ClinGen gnomAD |
|
|
CA1090734 rs780019985 |
212 | D>N | Variant assessed as Somatic; 4.625e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA341926662 rs1431728392 |
213 | L>* | No |
ClinGen gnomAD |
|
|
CA1090736 rs775375843 |
213 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762721519 CA1090737 |
214 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA341926755 COSM1222329 rs770774786 |
216 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA341926783 rs1422067003 |
216 | R>H | No |
ClinGen gnomAD |
|
|
CA1090738 rs770774786 |
216 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA29564345 CA1090740 rs200407470 |
218 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs115063024 CA1090739 |
218 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1445295187 CA341926878 |
219 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs143739858 CA1090741 |
219 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1345813629 CA341927044 |
226 | A>T | No |
ClinGen gnomAD |
|
|
CA1090744 rs148730084 |
227 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA29564352 rs148730084 |
227 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753602543 CA1090745 |
227 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1341248829 CA341927152 |
230 | N>D | No |
ClinGen gnomAD |
|
|
rs765709131 CA341927174 |
230 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762946987 CA1090746 |
230 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341927188 rs1451044185 |
231 | R>Q | No |
ClinGen gnomAD |
|
|
CA341927394 rs957838632 CA341927393 |
233 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA341927401 rs1571306510 |
234 | I>L | No |
ClinGen Ensembl |
|
|
CA341927423 rs540582656 |
234 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341927405 rs4603 |
234 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_013115 rs4603 CA1090772 |
234 | I>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs144372831 CA1090775 |
235 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA1090777 rs369317780 |
237 | V>F | No |
ClinGen ESP ExAC TOPMed |
|
|
CA1090780 rs144890599 |
239 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764773921 CA1090784 |
241 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1090782 rs374028323 |
241 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1090783 COSM1193857 rs374028323 |
241 | G>S | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1278314313 CA341927660 |
243 | E>A | No |
ClinGen gnomAD |
|
|
CA341927745 rs1199935822 |
245 | E>D | No |
ClinGen TOPMed |
|
|
rs1318046609 CA341927755 |
246 | G>E | No |
ClinGen TOPMed |
|
|
CA1090785 rs772971488 |
247 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772971488 CA1090786 |
247 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438540752 CA341927944 |
252 | T>S | No |
ClinGen gnomAD |
|
|
CA341927963 rs1179124967 |
252 | T>S | No |
ClinGen gnomAD |
|
|
rs752003327 CA1090788 |
253 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1171659648 CA341928047 |
255 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1403552029 CA341928058 |
255 | D>V | No |
ClinGen gnomAD |
|
|
CA29564567 rs142070497 |
256 | I>T | No |
ClinGen ESP |
|
|
rs867652139 CA29564579 |
257 | A>D | No |
ClinGen Ensembl |
|
|
CA1090789 rs1478575688 |
257 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs992948004 CA29564592 |
258 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs767547580 CA1090792 |
259 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 260 | I>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752746186 CA1090794 |
261 | S>N | No |
ClinGen ExAC |
|
|
rs752746186 CA341928283 |
261 | S>T | No |
ClinGen ExAC |
|
|
rs990120774 CA29564742 |
264 | E>* | No |
ClinGen Ensembl |
1 associated diseases with P28070
[MIM: 617591]: Proteasome-associated autoinflammatory syndrome 3 (PRAAS3)
An autoinflammatory disorder characterized by onset in early infancy and recurrent fever, nodular dermatitis, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and immune dysregulation. Variable accompanying features may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications. PRAAS3 inheritance is autosomal recessive or digenic. {ECO:0000269|PubMed:26524591}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.
Without disease ID
- An autoinflammatory disorder characterized by onset in early infancy and recurrent fever, nodular dermatitis, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and immune dysregulation. Variable accompanying features may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications. PRAAS3 inheritance is autosomal recessive or digenic. {ECO:0000269|PubMed:26524591}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.
1 regional properties for P28070
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Proteasome beta-type subunit, conserved site | 57 - 104 | IPR016050 |
Functions
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| ciliary basal body | A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport. |
| 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. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| 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. |
| proteasome complex | A large multisubunit complex which catalyzes protein degradation, found in eukaryotes, archaea and some bacteria. In eukaryotes, this complex consists of the barrel shaped proteasome core complex and one or two associated proteins or complexes that act in regulating entry into or exit from the core. |
| proteasome core complex | A multisubunit barrel shaped endoprotease complex, which is the core of the proteasome complex. |
| proteasome core complex, beta-subunit complex | The proteasome core subcomplex that constitutes the two inner rings of the proteasome core complex. An example of this component is found in Mus musculus. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| lipopolysaccharide binding | Binding to a lipopolysaccharide. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of inflammatory response to antigenic stimulus | Any process that stops, prevents, or reduces the frequency, rate, or extent of an inflammatory response to an antigenic stimulus. |
| proteasomal protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds that is mediated by the proteasome. |
| proteasome-mediated ubiquitin-dependent protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3T108 | PSMB4 | Proteasome subunit beta type-4 | Bos taurus (Bovine) | PR |
| P28072 | PSMB6 | Proteasome subunit beta type-6 | Homo sapiens (Human) | PR |
| P99026 | Psmb4 | Proteasome subunit beta type-4 | Mus musculus (Mouse) | PR |
| P34067 | Psmb4 | Proteasome subunit beta type-4 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEAFLGSRSG | LWAGGPAPGQ | FYRIPSTPDS | FMDPASALYR | GPITRTQNPM | VTGTSVLGVK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FEGGVVIAAD | MLGSYGSLAR | FRNISRIMRV | NNSTMLGASG | DYADFQYLKQ | VLGQMVIDEE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LLGDGHSYSP | RAIHSWLTRA | MYSRRSKMNP | LWNTMVIGGY | ADGESFLGYV | DMLGVAYEAP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SLATGYGAYL | AQPLLREVLE | KQPVLSQTEA | RDLVERCMRV | LYYRDARSYN | RFQIATVTEK |
| 250 | 260 | ||||
| GVEIEGPLST | ETNWDIAHMI | SGFE |