P18124
Gene name |
RPL7 |
Protein name |
60S ribosomal protein L7 |
Names |
Large ribosomal subunit protein uL30 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6129 |
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
95 structures for P18124
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4UG0 | EM | - | LF | 1-248 | PDB |
| 4V6X | EM | 500 A | CF | 1-248 | PDB |
| 5AJ0 | EM | 350 A | AF | 1-248 | PDB |
| 5LKS | EM | 360 A | LF | 1-248 | PDB |
| 5T2C | EM | 360 A | m | 1-248 | PDB |
| 6IP5 | EM | 390 A | 2A | 1-248 | PDB |
| 6IP6 | EM | 450 A | 2A | 1-248 | PDB |
| 6IP8 | EM | 390 A | 2A | 1-248 | PDB |
| 6LQM | EM | 309 A | w | 1-248 | PDB |
| 6LSR | EM | 313 A | w | 1-248 | PDB |
| 6LSS | EM | 323 A | p | 1-248 | PDB |
| 6LU8 | EM | 313 A | p | 1-248 | PDB |
| 6OLE | EM | 310 A | H | 24-248 | PDB |
| 6OLF | EM | 390 A | H | 24-248 | PDB |
| 6OLG | EM | 340 A | AF | 15-248 | PDB |
| 6OLI | EM | 350 A | H | 24-248 | PDB |
| 6OLZ | EM | 390 A | AF | 15-248 | PDB |
| 6OM0 | EM | 310 A | H | 24-248 | PDB |
| 6OM7 | EM | 370 A | H | 24-248 | PDB |
| 6QZP | EM | 290 A | LF | 24-248 | PDB |
| 6W6L | EM | 384 A | H | 1-248 | PDB |
| 6XA1 | EM | 280 A | LF | 24-248 | PDB |
| 6Y0G | EM | 320 A | LF | 1-248 | PDB |
| 6Y2L | EM | 300 A | LF | 1-248 | PDB |
| 6Y57 | EM | 350 A | LF | 1-248 | PDB |
| 6Y6X | EM | 280 A | LF | 24-248 | PDB |
| 6Z6L | EM | 300 A | LF | 1-248 | PDB |
| 6Z6M | EM | 310 A | LF | 1-248 | PDB |
| 6Z6N | EM | 290 A | LF | 1-248 | PDB |
| 6ZM7 | EM | 270 A | LF | 1-248 | PDB |
| 6ZME | EM | 300 A | LF | 1-248 | PDB |
| 6ZMI | EM | 260 A | LF | 1-248 | PDB |
| 6ZMO | EM | 310 A | LF | 1-248 | PDB |
| 7BHP | EM | 330 A | LF | 1-248 | PDB |
| 7F5S | EM | 272 A | LF | 1-248 | PDB |
| 7OW7 | EM | 220 A | m | 1-248 | PDB |
| 7QVP | EM | 300 A | LF/MF | 1-248 | PDB |
| 7XNX | EM | 270 A | LF | 1-248 | PDB |
| 7XNY | EM | 250 A | LF | 1-248 | PDB |
| 8A3D | EM | 167 A | m | 1-248 | PDB |
| 8FKP | EM | 285 A | SD | 1-248 | PDB |
| 8FKQ | EM | 276 A | SD | 1-248 | PDB |
| 8FKR | EM | 289 A | SD | 1-248 | PDB |
| 8FKS | EM | 288 A | SD | 1-248 | PDB |
| 8FKT | EM | 281 A | SD | 1-248 | PDB |
| 8FKU | EM | 282 A | SD | 1-248 | PDB |
| 8FKV | EM | 247 A | SD | 1-248 | PDB |
| 8FKW | EM | 250 A | SD | 1-248 | PDB |
| 8FKX | EM | 259 A | SD | 1-248 | PDB |
| 8FKY | EM | 267 A | SD | 1-248 | PDB |
| 8FKZ | EM | 304 A | SD | 1-248 | PDB |
| 8FL0 | EM | 291 A | SD | 1-248 | PDB |
| 8FL2 | EM | 267 A | SD | 1-248 | PDB |
| 8FL3 | EM | 253 A | SD | 1-248 | PDB |
| 8FL4 | EM | 289 A | SD | 1-248 | PDB |
| 8FL6 | EM | 262 A | SD | 1-248 | PDB |
| 8FL7 | EM | 255 A | SD | 1-248 | PDB |
| 8FL9 | EM | 275 A | SD | 1-248 | PDB |
| 8FLA | EM | 263 A | SD | 1-248 | PDB |
| 8FLB | EM | 255 A | SD | 1-248 | PDB |
| 8FLC | EM | 276 A | SD | 1-248 | PDB |
| 8FLD | EM | 258 A | SD | 1-248 | PDB |
| 8FLE | EM | 248 A | SD | 1-248 | PDB |
| 8FLF | EM | 265 A | SD | 1-248 | PDB |
| 8G5Y | EM | 229 A | LF | 1-248 | PDB |
| 8G5Z | EM | 264 A | LF | 24-248 | PDB |
| 8G60 | EM | 254 A | LF | 1-248 | PDB |
| 8G61 | EM | 294 A | LF | 1-248 | PDB |
| 8G6J | EM | 280 A | LF | 1-248 | PDB |
| 8GLP | EM | 167 A | LF | 1-248 | PDB |
| 8IDT | EM | 280 A | p | 1-248 | PDB |
| 8IDY | EM | 300 A | p | 1-248 | PDB |
| 8IE3 | EM | 330 A | p | 1-248 | PDB |
| 8IFD | EM | 259 A | 2A | 1-248 | PDB |
| 8IFE | EM | 257 A | 2A | 1-248 | PDB |
| 8INE | EM | 320 A | p | 1-248 | PDB |
| 8INF | EM | 300 A | p | 1-248 | PDB |
| 8INK | EM | 320 A | p | 1-248 | PDB |
| 8IPD | EM | 320 A | p | 1-248 | PDB |
| 8IPX | EM | 430 A | p | 1-248 | PDB |
| 8IPY | EM | 320 A | p | 1-248 | PDB |
| 8IR1 | EM | 330 A | p | 1-248 | PDB |
| 8IR3 | EM | 350 A | p | 1-248 | PDB |
| 8JDJ | EM | 250 A | L | 1-248 | PDB |
| 8JDK | EM | 226 A | L | 1-248 | PDB |
| 8JDL | EM | 242 A | L | 1-248 | PDB |
| 8JDM | EM | 267 A | L | 1-248 | PDB |
| 8OHD | EM | 310 A | LF | 1-248 | PDB |
| 8OJ0 | EM | 330 A | LF | 1-248 | PDB |
| 8OJ5 | EM | 290 A | LF | 1-248 | PDB |
| 8OJ8 | EM | 330 A | LF | 1-248 | PDB |
| 8QFD | EM | 220 A | F | 1-248 | PDB |
| 8Y0W | EM | 340 A | LF | 1-248 | PDB |
| 8Y0X | EM | 330 A | LF | 1-248 | PDB |
| AF-P18124-F1 | Predicted | AlphaFoldDB |
171 variants for P18124
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1427284229 CA371487512 |
2 | E>A | No |
ClinGen TOPMed |
|
|
CA179315057 rs374269827 |
3 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144881278 CA371487507 |
3 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA179315065 rs374269827 |
3 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144881278 CA4782867 |
3 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144881278 CA4782868 |
3 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4782866 COSM384692 rs374269827 |
3 | G>V | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA179315011 rs1024526474 |
4 | V>A | No |
ClinGen TOPMed |
|
|
rs976896432 CA179315040 |
4 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 4 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781513626 CA4782862 |
5 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371487501 rs1452422554 |
5 | E>Q | No |
ClinGen gnomAD |
|
|
rs781513626 CA179314984 |
5 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4782828 rs773601416 |
6 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA179314180 rs949014733 |
6 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs949014733 CA179314177 |
6 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs770092622 CA4782827 |
7 | K>E | No |
ClinGen ExAC |
|
|
CA4782824 rs139088283 |
7 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 8 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768798846 CA4782823 |
9 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4782822 rs747090327 |
10 | E>K | No |
ClinGen ExAC |
|
|
rs780385214 CA4782820 |
10 | E>V | No |
ClinGen ExAC |
|
|
rs758670175 CA4782819 |
12 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758670175 CA371487446 |
12 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371487440 rs1185625920 |
13 | A>T | No |
ClinGen gnomAD |
|
|
CA179314149 rs903389745 |
13 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA371487436 rs746127555 |
14 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4782818 rs746127555 |
14 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4782816 rs755932103 |
15 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371487414 rs1586182296 |
17 | T>I | No |
ClinGen Ensembl |
|
|
CA179314123 rs754351979 |
17 | T>S | No |
ClinGen Ensembl |
|
|
rs1333558191 CA371487401 |
19 | K>N | No |
ClinGen TOPMed |
|
|
rs11545448 CA179314109 |
21 | K>E | No |
ClinGen Ensembl |
|
|
rs11545448 CA179314114 |
21 | K>Q | No |
ClinGen Ensembl |
|
|
rs971823535 CA179314104 |
23 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs944470333 CA179314099 |
23 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs751089173 CA4782812 |
26 | A>T | No |
ClinGen ExAC TOPMed |
|
|
rs1240789080 CA371487355 |
26 | A>V | No |
ClinGen gnomAD |
|
|
rs762634079 CA4782810 |
30 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA4782809 rs772805645 |
30 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA179314069 rs911739540 |
30 | I>S | No |
ClinGen TOPMed |
|
|
rs765621432 CA4782808 |
32 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs762097799 CA4782807 |
33 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA179314044 rs985970639 |
35 | K>R | No |
ClinGen gnomAD |
|
|
rs953433195 CA179314041 |
36 | K>N | No |
ClinGen gnomAD |
|
|
rs1390058914 CA371487294 |
36 | K>R | No |
ClinGen gnomAD |
|
|
CA371487289 rs1586182226 |
37 | F>V | No |
ClinGen Ensembl |
|
|
rs1022200885 CA179314028 |
39 | Q>R | No |
ClinGen Ensembl |
|
|
rs747037278 CA4782804 |
40 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775691726 CA4782803 |
40 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4782801 rs746101170 |
41 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4782802 rs772087127 |
41 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs778588074 CA4782769 |
42 | L>F | No |
ClinGen ExAC gnomAD |
|
|
COSM1569560 CA371487237 rs1257776173 |
43 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 45 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4782767 rs753592188 |
45 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4782766 rs764538216 |
46 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4782765 rs144358877 |
46 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA179313573 rs776622814 |
47 | R>G | No |
ClinGen gnomAD |
|
|
rs1277708206 CA371487186 |
51 | Y>C | No |
ClinGen gnomAD |
|
|
CA4782764 rs753178602 |
55 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs186048475 CA4782763 |
55 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs548654516 CA4782760 |
56 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4782762 rs759624682 |
56 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1357171888 CA371487144 |
57 | Y>C | No |
ClinGen gnomAD |
|
|
rs763151745 CA4782759 |
59 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773491709 CA4782758 |
59 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371487096 rs1475864091 |
63 | Q>H | No |
ClinGen gnomAD |
|
|
CA371487090 CA4782754 rs370437154 |
64 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4782755 rs779993029 |
64 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371487087 rs1563543422 |
65 | Y>H | No |
ClinGen Ensembl |
|
|
rs1277869053 CA371487079 |
66 | R>G | No |
ClinGen TOPMed |
|
|
CA179313504 rs977825865 |
66 | R>S | No |
ClinGen TOPMed |
|
|
rs1318867259 CA371487078 |
66 | R>T | No |
ClinGen TOPMed |
|
|
CA371487059 rs1472694595 |
69 | I>V | No |
ClinGen gnomAD |
|
|
CA371487050 rs1236132692 |
70 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 72 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1186721777 CA371487036 |
72 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 73 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA179313494 rs958898892 |
74 | M>I | No |
ClinGen gnomAD |
|
|
rs745857989 CA4782753 |
74 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA371487005 rs1257900312 |
77 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748941975 CA4782750 |
82 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4782747 rs753021081 |
84 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA371486957 rs756485500 |
84 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4782748 rs756485500 |
84 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs202074117 CA4782746 |
85 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202074117 CA371486949 |
85 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752169201 CA4782744 |
88 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1462585666 CA371486917 |
90 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 91 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4782739 rs760478461 |
96 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA4782705 rs147209450 |
98 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4782704 rs747755328 |
99 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768845791 CA4782702 |
100 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1363399439 CA371486834 |
101 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1421658002 CA371486816 |
104 | K>E | No |
ClinGen TOPMed |
|
|
rs986950223 CA371486795 |
107 | K>R | No |
ClinGen TOPMed |
|
|
CA179313059 rs986950223 |
107 | K>T | No |
ClinGen TOPMed |
|
|
CA4782701 rs79179721 |
110 | Q>E | No |
ClinGen 1000Genomes ExAC |
|
|
rs1482340034 CA371486757 |
113 | R>C | No |
ClinGen gnomAD |
|
|
CA4782698 rs377758132 |
115 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371486745 rs1296808555 |
115 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs377758132 CA371486747 |
115 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1436899637 CA371486733 |
117 | I>V | No |
ClinGen gnomAD |
|
|
CA4782696 rs373211060 |
119 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371486689 rs1270280398 |
123 | V>A | No |
ClinGen TOPMed |
|
|
CA371486692 rs1431546804 |
123 | V>M | No |
ClinGen gnomAD |
|
|
rs1340792595 CA371486676 |
125 | L>F | No |
ClinGen TOPMed |
|
|
rs764387544 CA4782694 |
127 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371486646 rs1488121929 |
129 | S>L | No |
ClinGen gnomAD |
|
|
rs766329971 CA4782691 |
130 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371486644 rs1212766840 |
130 | I>V | No |
ClinGen gnomAD |
|
|
CA371486593 rs1309160345 |
137 | E>G | No |
ClinGen gnomAD |
|
|
CA4782689 rs144230005 |
140 | I>V | No |
ClinGen ESP ExAC TOPMed |
|
| rs768099547 | 143 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA179312824 rs61754909 |
144 | Y>S | No |
ClinGen Ensembl |
|
|
CA371486518 rs1563543092 |
146 | N>K | No |
ClinGen Ensembl |
|
|
rs1193109535 CA371486520 |
146 | N>S | No |
ClinGen TOPMed |
|
|
rs1253657224 CA371486496 |
150 | V>I | No |
ClinGen TOPMed |
|
|
rs1455968105 CA371486458 |
155 | Y>C | No |
ClinGen TOPMed |
|
|
CA371486444 rs1298543834 |
157 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1465346097 CA371486437 |
158 | G>A | No |
ClinGen gnomAD |
|
|
rs202073759 CA4782665 |
159 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772354686 CA4782664 |
162 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1160629634 CA371486414 |
162 | I>V | No |
ClinGen TOPMed |
|
|
CA4782663 rs528381376 |
163 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4782662 rs774669141 |
164 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1403195922 CA371486376 |
167 | I>M | No |
ClinGen TOPMed |
|
|
CA179312793 rs973546174 |
167 | I>T | No |
ClinGen Ensembl |
|
|
CA4782659 rs777899375 |
173 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1310407805 CA371486337 |
173 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 176 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781581308 CA179312761 |
177 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs781581308 CA4782656 |
177 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs758220252 CA371486315 |
177 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758220252 CA4782655 |
177 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 178 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA179312738 rs986834098 |
179 | L>V | No |
ClinGen TOPMed |
|
|
rs1032914485 CA179312370 |
183 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4782626 rs759163467 |
185 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1277745185 CA371486238 |
187 | M>T | No |
ClinGen gnomAD |
|
|
rs1397942777 CA371486203 |
192 | H>N | No |
ClinGen gnomAD |
|
|
CA371486177 rs1267585209 |
195 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 196 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371486162 rs1413893372 |
197 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 198 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 199 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1037661081 CA179312358 |
200 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA371486142 rs1399972665 |
200 | R>L | No |
ClinGen gnomAD |
|
|
CA371486146 rs1037661081 |
200 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1586180994 CA371486076 |
209 | W>* | No |
ClinGen Ensembl |
|
|
rs940796376 CA179312348 |
210 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 212 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA179312345 rs889818542 |
214 | S>C | No |
ClinGen TOPMed |
|
|
CA371486034 rs1473557872 |
216 | P>S | No |
ClinGen gnomAD |
|
|
rs773722193 CA4782622 |
217 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4782621 rs770456999 |
218 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA371486013 rs1308102000 |
220 | M>L | No |
ClinGen TOPMed |
|
|
CA4782620 rs762451859 |
221 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4782617 rs747250517 |
229 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA179312295 rs998553584 |
233 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 233 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 236 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770700008 CA4782615 |
237 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4782616 rs780143811 |
237 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4782613 rs777644144 |
244 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371485844 rs777644144 |
244 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4782612 rs756012660 |
246 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA179312272 rs1037495468 |
247 | M>V | No |
ClinGen TOPMed |
No associated diseases with P18124
2 regional properties for P18124
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | APO domain | 33 - 172 | IPR023342-1 |
| domain | APO domain | 202 - 318 | IPR023342-2 |
10 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. |
| cytosolic large ribosomal subunit | The large subunit of a ribosome located in the cytosol. |
| cytosolic ribosome | A ribosome located in the cytosol. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| 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. |
| postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| identical protein binding | Binding to an identical protein or proteins. |
| mRNA binding | Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| structural constituent of ribosome | The action of a molecule that contributes to the structural integrity of the ribosome. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cytoplasmic translation | The chemical reactions and pathways resulting in the formation of a protein in the cytoplasm. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein. |
| maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | Any process involved in the maturation of a precursor Large SubUnit (LSU) ribosomal RNA (rRNA) molecule into a mature LSU-rRNA molecule from the pre-rRNA molecule originally produced as a tricistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, 5.8S rRNA, and Large Subunit (LSU) in that order from 5' to 3' along the primary transcript. |
| ribosomal large subunit biogenesis | A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a large ribosomal subunit; includes transport to the sites of protein synthesis. |
| rRNA processing | Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
| translation | The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. |
11 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P05737 | RPL7A | 60S ribosomal protein L7-A | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q58DT1 | RPL7 | 60S ribosomal protein L7 | Bos taurus (Bovine) | PR |
| Q6W5P4 | NPSR1 | Neuropeptide S receptor | Homo sapiens (Human) | PR |
| Q6DKI1 | RPL7L1 | 60S ribosomal protein L7-like 1 | Homo sapiens (Human) | PR |
| Q8BZP8 | Npsr1 | Neuropeptide S receptor | Mus musculus (Mouse) | PR |
| Q9D8M4 | Rpl7l1 | 60S ribosomal protein L7-like 1 | Mus musculus (Mouse) | PR |
| P14148 | Rpl7 | 60S ribosomal protein L7 | Mus musculus (Mouse) | PR |
| A5GFQ0 | RPL7L1 | 60S ribosomal protein L7-like 1 | Sus scrofa (Pig) | PR |
| P05426 | Rpl7 | 60S ribosomal protein L7 | Rattus norvegicus (Rat) | PR |
| Q56H79 | NPSR1 | Neuropeptide S receptor | Macaca mulatta (Rhesus macaque) | PR |
| P60039 | RPL7C | 60S ribosomal protein L7-3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEGVEEKKKE | VPAVPETLKK | KRRNFAELKI | KRLRKKFAQK | MLRKARRKLI | YEKAKHYHKE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YRQMYRTEIR | MARMARKAGN | FYVPAEPKLA | FVIRIRGING | VSPKVRKVLQ | LLRLRQIFNG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TFVKLNKASI | NMLRIVEPYI | AWGYPNLKSV | NELIYKRGYG | KINKKRIALT | DNALIARSLG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KYGIICMEDL | IHEIYTVGKR | FKEANNFLWP | FKLSSPRGGM | KKKTTHFVEG | GDAGNREDQI |
| NRLIRRMN |