P50914
Gene name |
RPL14 |
Protein name |
60S ribosomal protein L14 |
Names |
CAG-ISL 7, Large ribosomal subunit protein eL14 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9045 |
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
93 structures for P50914
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4UG0 | EM | - | LM | 1-215 | PDB |
| 4V6X | EM | 500 A | CM | 1-215 | PDB |
| 5AJ0 | EM | 350 A | AM | 1-215 | PDB |
| 5LKS | EM | 360 A | LM | 1-215 | PDB |
| 5T2C | EM | 360 A | s | 1-215 | PDB |
| 6IP5 | EM | 390 A | 2G | 1-215 | PDB |
| 6IP6 | EM | 450 A | 2G | 1-215 | PDB |
| 6IP8 | EM | 390 A | 2G | 1-215 | PDB |
| 6LQM | EM | 309 A | S | 1-215 | PDB |
| 6LSR | EM | 313 A | S | 1-215 | PDB |
| 6LSS | EM | 323 A | S | 1-215 | PDB |
| 6LU8 | EM | 313 A | S | 1-215 | PDB |
| 6OLE | EM | 310 A | N | 2-140 | PDB |
| 6OLF | EM | 390 A | N | 2-140 | PDB |
| 6OLG | EM | 340 A | AM | 2-140 | PDB |
| 6OLI | EM | 350 A | N | 2-140 | PDB |
| 6OLZ | EM | 390 A | AM | 2-140 | PDB |
| 6OM0 | EM | 310 A | N | 2-140 | PDB |
| 6OM7 | EM | 370 A | N | 2-140 | PDB |
| 6QZP | EM | 290 A | LM | 2-140 | PDB |
| 6W6L | EM | 384 A | N | 1-215 | PDB |
| 6XA1 | EM | 280 A | LM | 2-140 | PDB |
| 6Y0G | EM | 320 A | LM | 1-215 | PDB |
| 6Y2L | EM | 300 A | LM | 1-215 | PDB |
| 6Y57 | EM | 350 A | LM | 1-215 | PDB |
| 6Y6X | EM | 280 A | LM | 2-140 | PDB |
| 6Z6L | EM | 300 A | LM | 1-215 | PDB |
| 6Z6M | EM | 310 A | LM | 1-215 | PDB |
| 6Z6N | EM | 290 A | LM | 1-215 | PDB |
| 6ZM7 | EM | 270 A | LM | 1-215 | PDB |
| 6ZME | EM | 300 A | LM | 1-215 | PDB |
| 6ZMI | EM | 260 A | LM | 1-215 | PDB |
| 6ZMO | EM | 310 A | LM | 1-215 | PDB |
| 7BHP | EM | 330 A | LM | 1-215 | PDB |
| 7F5S | EM | 272 A | LM | 1-215 | PDB |
| 7QVP | EM | 300 A | LM/MM | 1-215 | PDB |
| 7XNX | EM | 270 A | LM | 1-215 | PDB |
| 7XNY | EM | 250 A | LM | 1-215 | PDB |
| 8FKP | EM | 285 A | L8 | 1-215 | PDB |
| 8FKQ | EM | 276 A | L8 | 1-215 | PDB |
| 8FKR | EM | 289 A | L8 | 1-215 | PDB |
| 8FKS | EM | 288 A | L8 | 1-215 | PDB |
| 8FKT | EM | 281 A | L8 | 1-215 | PDB |
| 8FKU | EM | 282 A | L8 | 1-215 | PDB |
| 8FKV | EM | 247 A | L8 | 1-215 | PDB |
| 8FKW | EM | 250 A | L8 | 1-215 | PDB |
| 8FKX | EM | 259 A | L8 | 1-215 | PDB |
| 8FKY | EM | 267 A | L8 | 1-215 | PDB |
| 8FKZ | EM | 304 A | L8 | 1-215 | PDB |
| 8FL0 | EM | 291 A | L8 | 1-215 | PDB |
| 8FL2 | EM | 267 A | L8 | 1-215 | PDB |
| 8FL3 | EM | 253 A | L8 | 1-215 | PDB |
| 8FL4 | EM | 289 A | L8 | 1-215 | PDB |
| 8FL6 | EM | 262 A | L8 | 1-215 | PDB |
| 8FL7 | EM | 255 A | L8 | 1-215 | PDB |
| 8FL9 | EM | 275 A | L8 | 1-215 | PDB |
| 8FLA | EM | 263 A | L8 | 1-215 | PDB |
| 8FLB | EM | 255 A | L8 | 1-215 | PDB |
| 8FLC | EM | 276 A | L8 | 1-215 | PDB |
| 8FLD | EM | 258 A | L8 | 1-215 | PDB |
| 8FLE | EM | 248 A | L8 | 1-215 | PDB |
| 8FLF | EM | 265 A | L8 | 1-215 | PDB |
| 8G5Y | EM | 229 A | LM | 1-215 | PDB |
| 8G5Z | EM | 264 A | LM | 2-137 | PDB |
| 8G60 | EM | 254 A | LM | 1-215 | PDB |
| 8G61 | EM | 294 A | LM | 1-215 | PDB |
| 8G6J | EM | 280 A | LM | 1-215 | PDB |
| 8GLP | EM | 167 A | LM | 1-215 | PDB |
| 8IDT | EM | 280 A | S | 1-215 | PDB |
| 8IDY | EM | 300 A | S | 1-215 | PDB |
| 8IE3 | EM | 330 A | S | 1-215 | PDB |
| 8IFD | EM | 259 A | 2G | 1-215 | PDB |
| 8IFE | EM | 257 A | 2G | 1-215 | PDB |
| 8INE | EM | 320 A | S | 1-215 | PDB |
| 8INF | EM | 300 A | S | 1-215 | PDB |
| 8INK | EM | 320 A | S | 1-215 | PDB |
| 8IPD | EM | 320 A | S | 1-215 | PDB |
| 8IPX | EM | 430 A | S | 1-215 | PDB |
| 8IPY | EM | 320 A | S | 1-215 | PDB |
| 8IR1 | EM | 330 A | S | 1-215 | PDB |
| 8IR3 | EM | 350 A | S | 1-215 | PDB |
| 8JDJ | EM | 250 A | R | 1-215 | PDB |
| 8JDK | EM | 226 A | R | 1-215 | PDB |
| 8JDL | EM | 242 A | R | 1-215 | PDB |
| 8JDM | EM | 267 A | R | 1-215 | PDB |
| 8OHD | EM | 310 A | LM | 1-215 | PDB |
| 8OJ0 | EM | 330 A | LM | 1-215 | PDB |
| 8OJ5 | EM | 290 A | LM | 1-215 | PDB |
| 8OJ8 | EM | 330 A | LM | 1-215 | PDB |
| 8QFD | EM | 220 A | M | 1-215 | PDB |
| 8Y0W | EM | 340 A | LM | 1-215 | PDB |
| 8Y0X | EM | 330 A | LM | 1-215 | PDB |
| AF-P50914-F1 | Predicted | AlphaFoldDB |
194 variants for P50914
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA74061458 rs896479078 |
2 | V>A | No |
ClinGen Ensembl |
|
|
rs766209314 CA2329603 |
3 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2329604 rs751439262 |
7 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA352220585 rs1471096502 |
9 | V>L | No |
ClinGen gnomAD |
|
|
rs1559527864 CA352220624 |
13 | A>S | No |
ClinGen Ensembl |
|
|
rs181009417 CA2329606 |
13 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757289887 CA2329608 |
14 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753832297 CA2329607 |
14 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA352220636 rs757289887 |
14 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337582378 CA352220669 |
17 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2329609 rs778989689 |
17 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352220694 rs1443624022 |
19 | P>R | No |
ClinGen gnomAD |
|
|
rs1243676252 CA352220692 |
19 | P>S | No |
ClinGen gnomAD |
|
|
CA2329610 rs373097776 |
20 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373097776 CA2329611 |
20 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1315291727 CA352220704 |
21 | A>T | No |
ClinGen gnomAD |
|
|
rs1199642839 CA352220716 |
22 | G>R | No |
ClinGen TOPMed |
|
|
CA2329612 rs35187187 |
23 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2329615 rs781694922 |
26 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs549220896 CA2329616 |
26 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772853082 CA2329618 |
28 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs139543259 CA2329619 |
33 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2329620 rs770765769 |
34 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2329621 rs773997383 |
35 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA2329639 rs759136177 |
36 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1405880407 CA352221243 |
39 | D>N | No |
ClinGen gnomAD |
|
|
CA2329641 rs139084909 |
43 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2329642 rs760604858 |
44 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269122358 CA352221372 |
48 | Q>H | No |
ClinGen gnomAD |
|
|
CA352221368 rs1227565422 |
48 | Q>R | No |
ClinGen gnomAD |
|
|
rs750467711 CA2329644 |
49 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1263677466 CA352221409 |
50 | M>I | No |
ClinGen gnomAD |
|
|
rs1460709153 CA352221431 |
51 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 52 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2329646 rs766390630 |
54 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs370139545 CA2329647 |
55 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370139545 CA2329648 |
55 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs758026307 CA2329649 |
58 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA352221571 rs1481450301 |
60 | F>V | No |
ClinGen gnomAD |
|
|
rs1049286296 CA74062210 |
62 | L>V | No |
ClinGen TOPMed |
|
|
rs756667393 CA2329651 |
64 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs778466178 CA352221653 |
64 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1171313476 CA352221674 |
65 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1171313476 CA352221664 |
65 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs774468497 CA2329685 |
67 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2329686 rs759575752 |
69 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352222027 rs1575251793 |
73 | V>A | No |
ClinGen Ensembl |
|
|
CA74065018 rs1056263013 |
74 | R>G | No |
ClinGen Ensembl |
|
|
rs767738336 CA2329687 |
74 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA352222041 rs775806582 |
76 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2329688 COSM1422977 rs775806582 |
76 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1378130952 CA352222042 |
76 | A>V | No |
ClinGen gnomAD |
|
|
rs1802712 CA74065035 |
77 | W>R | No |
ClinGen Ensembl |
|
|
rs752863815 CA2329689 |
78 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA74065043 rs897621513 |
81 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs764489393 CA74065045 |
82 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA352222088 rs1382880576 |
83 | N>D | No |
ClinGen TOPMed |
|
|
rs570995505 CA352222091 |
83 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570995505 CA2329691 |
83 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145433390 CA2329692 |
84 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1397047823 CA352222103 |
85 | K>R | No |
ClinGen gnomAD |
|
|
CA352222109 rs1575251818 |
86 | W>G | No |
ClinGen Ensembl |
|
|
rs750968462 CA2329694 |
89 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA352222155 rs1314630207 |
93 | K>Q | No |
ClinGen gnomAD |
|
|
CA352222170 rs1320005499 |
95 | I>V | No |
ClinGen gnomAD |
|
|
CA74065078 rs887717883 |
97 | A>G | No |
ClinGen Ensembl |
|
|
rs1252429914 CA352222192 |
97 | A>T | No |
ClinGen gnomAD |
|
|
CA2329695 rs757793884 |
99 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1420209939 CA352222212 |
99 | E>K | No |
ClinGen TOPMed |
|
|
rs1420942437 CA352222225 |
100 | R>G | No |
ClinGen gnomAD |
|
|
CA2329715 rs765652396 |
102 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1477209695 CA352222309 |
103 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA352222321 rs1168456645 |
104 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2329716 rs750834399 |
109 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750834399 CA352222387 |
109 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763452545 CA2329717 |
111 | K>T | No |
ClinGen ExAC |
|
|
rs765868400 CA2329718 |
113 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1298488348 CA352222450 |
115 | A>T | No |
ClinGen gnomAD |
|
|
CA74065283 rs11539050 |
115 | A>V | No |
ClinGen Ensembl |
|
|
CA74065625 rs756107625 |
119 | R>S | No |
ClinGen gnomAD |
|
|
rs145518013 CA74065663 |
121 | R>S | No |
ClinGen Ensembl |
|
|
rs763794487 CA2329743 |
121 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235486538 CA352222594 |
122 | I>V | No |
ClinGen TOPMed |
|
|
CA352222646 rs1354142115 |
125 | N>S | No |
ClinGen TOPMed |
|
|
rs11539060 CA74065673 |
126 | E>G | No |
ClinGen Ensembl |
|
|
rs1198157102 CA352222679 |
128 | K>E | No |
ClinGen gnomAD |
|
|
rs753746678 CA2329744 |
128 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs11539059 CA74065701 |
129 | K>* | No |
ClinGen Ensembl |
|
|
CA352222723 rs1471046847 |
132 | K>Q | No |
ClinGen gnomAD |
|
|
CA352222747 rs1177516316 |
134 | A>P | No |
ClinGen gnomAD |
|
|
rs145682545 CA2329745 |
135 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA74065715 rs919020732 |
137 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
VAR_013633 rs929099541 CA74065719 |
138 | A>S | No |
ClinGen UniProt TOPMed dbSNP |
|
|
rs779038374 CA2329746 |
139 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352222801 rs745818038 |
140 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs745818038 CA2329747 |
140 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2329748 rs755047019 |
141 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs781334217 CA2329749 |
142 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1413983573 CA352222830 |
143 | A>T | No |
ClinGen TOPMed |
|
|
CA74065765 rs891467645 |
143 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2329750 rs148931839 |
144 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1474074392 CA352222842 |
144 | P>S | No |
ClinGen TOPMed |
|
|
CA352222856 rs1316713036 |
145 | G>A | No |
ClinGen gnomAD |
|
|
rs1237585591 CA352222849 |
145 | G>R | No |
ClinGen gnomAD |
|
|
rs770111063 CA2329751 |
146 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA352222875 rs1202180936 |
147 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1208666900 CA352222877 |
148 | G>S | No |
ClinGen gnomAD |
|
|
CA74065808 rs199894150 |
148 | G>V | No |
ClinGen TOPMed |
|
|
rs200018880 CA74065874 |
149 | T>A | No |
ClinGen TOPMed |
|
|
CA352222910 rs1429262856 |
150 | A>T | No |
ClinGen TOPMed |
|
|
CA74065924 rs201325213 |
151 | A>G | No |
ClinGen Ensembl |
|
|
CA352222941 rs773425371 |
152 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA2329764 COSM1663965 rs773425371 |
152 | A>G | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs201931132 CA74065976 |
152 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 153 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352222945 rs749693566 |
153 | A>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1663966 CA2329765 rs749693566 |
153 | A>T | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs57354599 RCV000949259 |
154 | A>missing | No |
ClinVar dbSNP |
|
|
rs1252565022 CA352222972 |
154 | A>V | No |
ClinGen TOPMed |
|
|
RCV000949258 rs57354599 |
155 | A>missing | No |
ClinVar dbSNP |
|
|
CA74065997 rs899792463 |
155 | A>S | No |
ClinGen Ensembl |
|
| VAR_047109 | 158 | A>del | No | UniProt | |
| VAR_013634 | 159 | A>AA | No | UniProt | |
| VAR_014070 | 159 | A>AAA | No | UniProt | |
| VAR_013635 | 159 | A>AAAA | No | UniProt | |
| VAR_013636 | 159 | A>AAAAA | No | UniProt | |
| VAR_006923 | 159 | A>AAAAAA | No | UniProt | |
| VAR_013637 | 159 | A>AAAAAAAA | No | UniProt | |
|
CA352223027 rs1231712234 |
159 | A>V | No |
ClinGen TOPMed |
|
|
CA2329775 rs200879671 |
160 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760050779 CA2329777 |
160 | K>N | No |
ClinGen ExAC |
|
|
CA2329776 rs774792368 |
160 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA2329778 rs766872722 |
161 | V>A | No |
ClinGen ExAC |
|
|
CA2329779 rs775134576 |
162 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs763859368 CA2329781 |
165 | K>N | No |
ClinGen ExAC gnomAD |
|
| rs1243470255 | 166 | I>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2329782 rs753658672 |
166 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352223105 rs1281849082 |
167 | T>A | No |
ClinGen TOPMed |
|
|
rs1281849082 CA352223109 |
167 | T>P | No |
ClinGen TOPMed |
|
|
CA2329784 rs375865018 |
168 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750315795 CA2329785 |
168 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs148088669 CA2329787 |
169 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs141817449 CA2329788 |
169 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA74066146 rs1025622363 |
170 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA74066147 rs1009632431 |
171 | K>E | No |
ClinGen Ensembl |
|
|
CA352223147 rs1559529277 |
171 | K>R | No |
ClinGen Ensembl |
|
|
CA2329790 rs778015967 |
172 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314870835 CA352223154 |
172 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 173 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2329791 rs749534475 |
173 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352223170 rs1422034338 |
175 | A>S | No |
ClinGen gnomAD |
|
|
rs1421319267 CA352223173 |
175 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs369895455 CA2329792 |
178 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs542249256 CA2329793 |
179 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1395140596 CA352223201 |
180 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA352223204 rs1331773157 |
180 | A>V | No |
ClinGen gnomAD |
|
|
CA352223217 rs1327690243 |
182 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs746371770 CA2329794 |
184 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74066199 rs981006011 |
186 | Q>R | No |
ClinGen Ensembl |
|
|
rs925449918 CA74066206 |
189 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA352223265 rs1344018889 |
190 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs760276131 CA2329797 |
190 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352223267 rs1344018889 |
190 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1286521534 CA352223278 |
192 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 192 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs17081181 CA2329798 |
193 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352223289 rs776361674 |
194 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA2329799 rs776361674 |
194 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs761558659 CA2329800 |
194 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA74066272 rs1801012 |
195 | Q>* | No |
ClinGen TOPMed |
|
|
rs8701 CA352223297 |
195 | Q>H | No |
ClinGen TOPMed |
|
|
CA74066288 rs372870342 |
195 | Q>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs554565679 CA2329802 |
197 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2329801 rs554565679 |
197 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs11539048 CA74066333 |
198 | Q>* | No |
ClinGen Ensembl |
|
|
rs574705007 CA2329803 |
200 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1464853026 CA352223331 |
201 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1464853026 CA352223332 |
201 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA352223342 rs1559529344 |
203 | Q>* | No |
ClinGen Ensembl |
|
|
CA352223346 rs1170464057 |
203 | Q>R | No |
ClinGen gnomAD |
|
|
CA352223358 rs1419814941 |
205 | A>T | No |
ClinGen gnomAD |
|
|
rs1297091941 CA352223366 |
206 | P>S | No |
ClinGen gnomAD |
|
|
rs1297091941 CA352223364 |
206 | P>T | No |
ClinGen gnomAD |
|
|
rs1406759198 CA352223374 |
207 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs15364 CA74066389 |
209 | K>E | No |
ClinGen gnomAD |
|
|
rs15370 CA74066394 |
209 | K>R | No |
ClinGen Ensembl |
|
|
CA2329805 rs751482693 |
210 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs945729615 CA74066398 |
210 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs756169354 CA2329806 |
211 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs756169354 CA352223395 |
211 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs4854 CA74066435 |
211 | S>P | No |
ClinGen Ensembl |
|
|
rs1261831013 CA352223406 |
213 | K>R | No |
ClinGen TOPMed |
|
|
rs4855 CA74066496 |
214 | K>E | No |
ClinGen Ensembl |
|
|
CA74066502 rs11539054 |
215 | A>S | No |
ClinGen Ensembl |
No associated diseases with P50914
1 regional properties for P50914
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Ribosomal protein L22/L17, conserved site | 126 - 150 | IPR018260 |
7 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. |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| 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. |
4 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. |
| 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. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9CR57 | Rpl14 | 60S ribosomal protein L14 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVFRRFVEVG | RVAYVSFGPH | AGKLVAIVDV | IDQNRALVDG | PCTQVRRQAM | PFKCMQLTDF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ILKFPHSAHQ | KYVRQAWQKA | DINTKWAATR | WAKKIEARER | KAKMTDFDRF | KVMKAKKMRN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RIIKNEVKKL | QKAALLKASP | KKAPGTKGTA | AAAAAAAAAK | VPAKKITAAS | KKAPAQKVPA |
| 190 | 200 | 210 | |||
| QKATGQKAAP | APKAQKGQKA | PAQKAPAPKA | SGKKA |