Q5JS54
Gene name |
PSMG4 (C6orf86, PAC4) |
Protein name |
Proteasome assembly chaperone 4 |
Names |
PAC-4, hPAC4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:389362 |
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
3 structures for Q5JS54
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5WTQ | X-ray | 190 A | A/B/C/D | 1-123 | PDB |
| 8QYJ | EM | 273 A | M | 1-123 | PDB |
| AF-Q5JS54-F1 | Predicted | AlphaFoldDB |
88 variants for Q5JS54
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs976365457 CA133497155 |
2 | E>D | No |
ClinGen TOPMed |
|
|
CA133497156 rs964160513 |
3 | G>E | No |
ClinGen TOPMed |
|
|
rs1225739300 CA362594345 |
3 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA362594353 rs1433952308 |
4 | L>R | No |
ClinGen TOPMed |
|
|
rs1178566454 CA362594350 |
4 | L>V | No |
ClinGen TOPMed |
|
|
rs1189862491 CA362594354 |
5 | V>I | No |
ClinGen TOPMed |
|
|
CA362594372 rs1272242573 |
8 | A>T | No |
ClinGen gnomAD |
|
|
CA362594380 rs1205064975 |
9 | G>S | No |
ClinGen TOPMed |
|
|
rs866206808 CA133497223 |
10 | G>R | No |
ClinGen Ensembl |
|
|
rs751126684 CA362594407 |
13 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3619410 rs751126684 |
13 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362594404 rs1257226067 |
13 | S>P | No |
ClinGen TOPMed |
|
|
rs201036341 COSM1222377 CA3619412 |
14 | L>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA3619411 rs201036341 |
14 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362594414 rs1304692231 |
15 | H>P | No |
ClinGen TOPMed |
|
|
CA362594434 rs75909236 |
17 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362594435 rs1473812732 |
18 | S>G | No |
ClinGen TOPMed |
|
|
CA3619415 rs779454348 |
19 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA362594463 rs1561839712 |
22 | W>* | No |
ClinGen Ensembl |
|
|
CA3619416 rs746049177 |
23 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362594480 rs1201680330 |
24 | Q>L | No |
ClinGen gnomAD |
|
|
CA362594481 rs1201680330 |
24 | Q>R | No |
ClinGen gnomAD |
|
|
CA133497303 rs940465427 |
26 | V>D | No |
ClinGen Ensembl |
|
|
rs1187942350 CA362594503 |
28 | F>L | No |
ClinGen gnomAD |
|
|
CA133497306 rs563530189 |
30 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3619417 rs563530189 |
30 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779985403 CA3619418 |
31 | M>L | No |
ClinGen ExAC |
|
|
rs947831461 CA133497313 |
32 | R>G | No |
ClinGen TOPMed |
|
|
rs947831461 CA362594530 |
32 | R>W | No |
ClinGen TOPMed |
|
|
rs747181103 CA133497320 |
34 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3619420 rs747181103 |
34 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133497369 rs1045924845 |
38 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs868665875 CA133497399 |
40 | W>* | No |
ClinGen Ensembl |
|
|
rs1396678957 CA362594592 |
42 | G>A | No |
ClinGen TOPMed |
|
|
rs1175960289 CA362594595 |
43 | A>P | No |
ClinGen gnomAD |
|
|
rs1052745854 CA133497408 |
44 | T>A | No |
ClinGen TOPMed |
|
|
rs1335033285 CA362594610 |
45 | P>L | No |
ClinGen TOPMed |
|
|
CA133497425 rs1001465794 |
48 | R>G | No |
ClinGen TOPMed |
|
|
CA362594626 rs1324359451 |
48 | R>H | No |
ClinGen gnomAD |
|
|
CA362594638 rs1470981028 |
50 | L>V | No |
ClinGen gnomAD |
|
|
CA133497451 rs893206420 |
53 | A>T | No |
ClinGen Ensembl |
|
|
rs1270615295 CA362594658 |
53 | A>V | No |
ClinGen gnomAD |
|
|
CA362594660 rs773096208 |
54 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133497487 rs899898819 |
54 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3619425 rs773096208 |
54 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133497491 rs998297817 |
55 | C>F | No |
ClinGen TOPMed |
|
|
CA3619426 rs762488081 |
57 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362594682 rs762488081 |
57 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3619439 rs755001094 |
62 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3619440 rs781280523 |
63 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374935109 CA3619441 |
65 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1482938531 CA362594747 |
65 | T>I | No |
ClinGen gnomAD |
|
|
rs374935109 CA362594745 |
65 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1300474129 CA362594754 |
66 | S>F | No |
ClinGen TOPMed |
|
|
CA133510188 rs537732543 |
67 | L>F | No |
ClinGen gnomAD |
|
|
CA362594756 rs537732543 |
67 | L>V | No |
ClinGen gnomAD |
|
|
CA362594762 rs1181958023 |
68 | L>F | No |
ClinGen gnomAD |
|
|
rs1424461688 CA362594789 |
72 | S>Y | No |
ClinGen gnomAD |
|
|
CA362594792 COSM1222384 rs1442459703 |
73 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1406803988 CA362594803 |
74 | T>M | No |
ClinGen TOPMed |
|
|
CA362594817 rs1162485837 |
76 | S>F | No |
ClinGen TOPMed |
|
|
CA133510213 rs1013066403 |
77 | T>A | No |
ClinGen TOPMed |
|
|
rs1461313121 CA362594837 |
80 | A>S | No |
ClinGen gnomAD |
|
|
rs1044985944 CA133510223 |
81 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs749170153 CA3619444 |
82 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1154659 CA133510245 rs927728969 |
82 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1448738103 CA362594852 |
83 | L>V | No |
ClinGen TOPMed |
|
|
rs1229876929 CA362595277 |
85 | R>G | No |
ClinGen gnomAD |
|
|
rs1334081781 CA362595295 |
87 | T>A | No |
ClinGen gnomAD |
|
|
CA133514298 rs928060438 |
90 | Q>H | No |
ClinGen TOPMed |
|
|
rs1448282761 CA362595326 |
90 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA362595369 rs1269443606 |
95 | Y>C | No |
ClinGen gnomAD |
|
|
rs1195799399 CA362595366 |
95 | Y>H | No |
ClinGen TOPMed |
|
|
CA362595393 rs1258864242 |
98 | Q>E | No |
ClinGen gnomAD |
|
|
CA362595399 rs1359606882 |
98 | Q>H | No |
ClinGen gnomAD |
|
|
rs1252541056 CA362595396 |
98 | Q>R | No |
ClinGen TOPMed |
|
|
rs935332143 CA133514303 |
99 | N>Y | No |
ClinGen TOPMed |
|
|
rs1007008919 CA133514306 |
100 | T>I | No |
ClinGen Ensembl |
|
|
rs776042978 CA3619487 |
101 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1038905007 CA133514308 |
102 | S>G | No |
ClinGen Ensembl |
|
|
COSM1222380 CA362595450 rs1258651768 |
105 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1052833229 CA133514323 |
108 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA133514333 rs994798668 |
110 | N>D | No |
ClinGen Ensembl |
|
|
CA133514347 rs759793970 |
112 | I>V | No |
ClinGen Ensembl |
|
|
CA362595556 rs1443274692 |
118 | A>V | No |
ClinGen gnomAD |
|
|
rs1011073565 CA133514353 |
121 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA362595599 rs1187423740 |
124 | F>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1300750796 CA362595601 |
124 | F>Y | No |
ClinGen TOPMed |
No associated diseases with Q5JS54
No regional properties for Q5JS54
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q5JS54 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein-containing complex binding | Binding to a macromolecular complex. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| proteasome assembly | The aggregation, arrangement and bonding together of a mature, active proteasome complex. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P0C7N9 | Psmg4 | Proteasome assembly chaperone 4 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEGLVVAAGG | DVSLHNFSAR | LWEQLVHFHV | MRLTDSLFLW | VGATPHLRNL | AVAMCSRYDS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IPVSTSLLGD | TSDTTSTGLA | QRLARKTNKQ | VFVSYNLQNT | DSNFALLVEN | RIKEEMEAFP |
| EKF |