Q9UHA3
Gene name |
RSL24D1 (C15orf15, RPL24L, My024) |
Protein name |
Probable ribosome biogenesis protein RLP24 |
Names |
Ribosomal L24 domain-containing protein 1, Ribosomal protein L24-like |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51187 |
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
38 structures for Q9UHA3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6LSS | EM | 323 A | 7 | 1-163 | PDB |
| 6LU8 | EM | 313 A | 7 | 1-163 | PDB |
| 8FKP | EM | 285 A | SV | 1-163 | PDB |
| 8FKQ | EM | 276 A | SV | 1-163 | PDB |
| 8FKR | EM | 289 A | SV | 1-163 | PDB |
| 8FKS | EM | 288 A | SV | 1-163 | PDB |
| 8FKT | EM | 281 A | SV | 1-163 | PDB |
| 8FKU | EM | 282 A | SV | 1-163 | PDB |
| 8FKV | EM | 247 A | SV | 1-163 | PDB |
| 8FKW | EM | 250 A | SV | 1-163 | PDB |
| 8FKX | EM | 259 A | SV | 1-163 | PDB |
| 8FKY | EM | 267 A | SV | 1-163 | PDB |
| 8FKZ | EM | 304 A | SV | 1-163 | PDB |
| 8FL0 | EM | 291 A | SV | 1-163 | PDB |
| 8FL2 | EM | 267 A | SV | 1-163 | PDB |
| 8FL3 | EM | 253 A | SV | 1-163 | PDB |
| 8FL4 | EM | 289 A | SV | 1-163 | PDB |
| 8FL6 | EM | 262 A | SV | 1-163 | PDB |
| 8FL7 | EM | 255 A | SV | 1-163 | PDB |
| 8FL9 | EM | 275 A | SV | 1-163 | PDB |
| 8FLA | EM | 263 A | SV | 1-163 | PDB |
| 8FLB | EM | 255 A | SV | 1-163 | PDB |
| 8FLC | EM | 276 A | SV | 1-163 | PDB |
| 8FLD | EM | 258 A | SV | 1-163 | PDB |
| 8FLE | EM | 248 A | SV | 1-163 | PDB |
| 8FLF | EM | 265 A | SV | 1-163 | PDB |
| 8IDT | EM | 280 A | 7 | 1-163 | PDB |
| 8IDY | EM | 300 A | 7 | 1-163 | PDB |
| 8IE3 | EM | 330 A | 7 | 1-163 | PDB |
| 8INE | EM | 320 A | 7 | 1-163 | PDB |
| 8INF | EM | 300 A | 7 | 1-163 | PDB |
| 8INK | EM | 320 A | 7 | 1-163 | PDB |
| 8IPD | EM | 320 A | 7 | 1-163 | PDB |
| 8IPX | EM | 430 A | 7 | 1-163 | PDB |
| 8IPY | EM | 320 A | 7 | 1-163 | PDB |
| 8IR1 | EM | 330 A | 7 | 1-163 | PDB |
| 8IR3 | EM | 350 A | 7 | 1-163 | PDB |
| AF-Q9UHA3-F1 | Predicted | AlphaFoldDB |
144 variants for Q9UHA3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262768278 CA392781648 |
3 | I>M | No |
ClinGen gnomAD |
|
|
CA7573482 rs777526919 |
4 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7573483 rs777526919 |
4 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA7573481 rs756569215 |
7 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA392781607 rs1218707788 |
9 | C>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs11540394 CA271241097 |
12 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 12 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA271241098 rs1003962483 |
12 | P>S | No |
ClinGen Ensembl |
|
|
CA271241095 rs11540389 |
13 | I>N | No |
ClinGen Ensembl |
|
|
rs371629101 CA271241096 |
13 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7573478 rs755577679 |
14 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs755577679 CA392781577 |
14 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA7573477 rs751998821 |
15 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA271241094 rs199532636 |
15 | P>S | No |
ClinGen 1000Genomes TOPMed |
|
|
rs766496104 CA392781567 |
16 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA7573476 rs766496104 |
16 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA392781558 rs762878339 |
17 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278504670 CA392781556 |
18 | G>C | No |
ClinGen TOPMed |
|
|
rs765399239 CA271241093 CA7573473 |
19 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173400339 CA392781547 |
19 | M>T | No |
ClinGen gnomAD |
|
|
CA392781541 rs1178439610 |
20 | M>T | No |
ClinGen gnomAD |
|
|
rs761988262 CA7573472 |
20 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs775326760 CA7573471 |
21 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA392781529 rs1262414457 |
22 | V>I | No |
ClinGen TOPMed |
|
|
CA7573468 rs774087440 |
25 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs200023487 CA7573440 |
28 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA271240616 rs17856255 |
29 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA392781386 rs957387047 |
29 | F>L | No |
ClinGen gnomAD |
|
|
rs17856255 CA7573439 |
29 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA271240614 rs17851202 |
30 | R>G | No |
ClinGen TOPMed |
|
|
CA271240613 rs111669877 |
30 | R>T | No |
ClinGen Ensembl |
|
|
rs778975431 CA7573438 |
37 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA271240612 rs939879035 |
37 | H>Y | No |
ClinGen TOPMed |
|
|
CA7573437 rs757258993 |
38 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA392781308 rs1367145063 |
40 | F>C | No |
ClinGen TOPMed |
|
|
CA392781312 rs1347090778 |
40 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 42 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA271240610 rs11540381 |
42 | K>R | No |
ClinGen Ensembl |
|
|
rs11540393 CA271240608 |
43 | K>N | No |
ClinGen Ensembl |
|
|
rs754119174 CA7573436 |
44 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM191447 CA7573434 rs572620938 |
44 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs572620938 CA392781280 |
44 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA271240607 rs17852590 |
45 | N>D | No |
ClinGen Ensembl |
|
|
CA7573433 rs772105282 |
45 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392781265 rs1290751382 |
47 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA392781263 rs1464589332 |
47 | R>H | No |
ClinGen gnomAD |
|
|
CA392781252 rs751351733 |
49 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7573432 rs751351733 |
49 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 53 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1421858666 CA392781216 |
54 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1467469744 CA392781213 |
54 | A>V | No |
ClinGen TOPMed |
|
|
CA7573431 rs766272809 |
58 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368924119 CA7573429 |
59 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368924119 CA7573430 |
59 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1478045216 CA392781182 |
60 | G>S | No |
ClinGen TOPMed |
|
|
rs1261974696 CA392781149 |
64 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA392781145 rs1405220959 |
65 | V>E | No |
ClinGen TOPMed |
|
|
rs1459562317 CA392781146 |
65 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 65 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7573386 rs759167715 |
66 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA392781111 rs1310796598 |
68 | S>* | No |
ClinGen TOPMed |
|
|
rs1338047570 CA392781114 |
68 | S>P | No |
ClinGen gnomAD |
|
|
CA7573385 rs774755801 |
69 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7573383 rs763374116 |
74 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs145555296 CA7573382 |
74 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145555296 CA392781068 |
74 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 74 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA271240432 rs1006463257 |
76 | N>D | No |
ClinGen TOPMed |
|
|
CA7573381 rs769784566 |
76 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7573380 rs370157846 |
77 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781386911 CA7573379 |
79 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200616324 CA271240430 |
80 | K>R | No |
ClinGen gnomAD |
|
|
CA7573378 rs769044549 |
82 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA392781014 rs1197069200 |
82 | Q>H | No |
ClinGen gnomAD |
|
|
rs968465281 CA271240429 |
83 | R>Q | No |
ClinGen TOPMed |
|
|
CA7573377 rs747216897 |
84 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA271240428 rs17851390 |
86 | W>R | No |
ClinGen Ensembl |
|
|
rs778860442 CA7573376 |
87 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 87 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7573351 rs754427012 |
91 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs144437295 CA7573349 |
92 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 94 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750846016 CA7573347 |
96 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371062419 CA271239766 |
98 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA271239764 rs145320361 |
99 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7573344 rs777224422 |
101 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764295201 CA7573343 |
101 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA392780862 rs1462183225 |
103 | R>C | No |
ClinGen gnomAD |
|
|
rs199758477 CA7573342 |
103 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775403419 CA7573341 |
104 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA271239763 rs113933212 |
104 | Q>R | No |
ClinGen gnomAD |
|
|
CA392780853 rs1470001086 |
105 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA271239762 rs968911646 |
107 | F>L | No |
ClinGen Ensembl |
|
|
rs772387456 CA7573340 |
109 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7573339 rs746065826 CA392780811 |
110 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA7573321 rs774377773 |
115 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA392780740 rs1209852668 |
119 | Q>K | No |
ClinGen Ensembl |
|
|
rs1057218932 CA271239541 |
120 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1425383291 CA392780724 |
121 | V>I | No |
ClinGen gnomAD |
|
|
rs942533265 CA271239540 |
122 | Q>E | No |
ClinGen gnomAD |
|
|
CA392780708 rs1157012792 |
123 | D>G | No |
ClinGen gnomAD |
|
|
rs746905564 CA7573316 |
126 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA271239538 rs139024218 |
132 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs911162056 CA271239539 |
132 | H>N | No |
ClinGen gnomAD |
|
|
CA7573315 rs139024218 |
132 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7573314 rs757777074 |
133 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs200024314 COSM309606 CA7573313 |
134 | I>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs200024314 CA271239537 |
134 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7573311 rs150727724 |
135 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1224212817 CA392780626 |
136 | A>T | No |
ClinGen TOPMed |
|
|
CA7573310 rs754306199 |
136 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392780613 rs1327774181 |
138 | L>F | No |
ClinGen TOPMed |
|
|
CA392780604 rs1316315609 |
139 | A>V | No |
ClinGen gnomAD |
|
|
rs1458479049 CA392780589 |
140 | G>A | No |
ClinGen TOPMed |
|
|
rs1177662303 CA392780576 |
142 | G>E | No |
ClinGen gnomAD |
|
|
CA392780560 rs1191844668 |
144 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs756376298 CA7573286 |
144 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7573285 rs200847511 |
146 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA271239413 rs17852589 |
146 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 146 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392780551 rs1371882795 |
146 | E>Q | No |
ClinGen TOPMed |
|
|
COSM1373604 CA7573284 rs781511293 |
147 | E>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7573283 rs751183994 |
148 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1192808150 CA392780522 |
150 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7573280 rs766430929 |
151 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392780506 rs763224716 |
152 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs763224716 CA7573279 |
152 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1249849823 CA392780494 |
154 | Q>E | No |
ClinGen gnomAD |
|
|
rs1249849823 CA392780495 |
154 | Q>K | No |
ClinGen gnomAD |
|
|
CA7573278 rs750572411 |
155 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA392780482 rs1312479906 |
155 | E>G | No |
ClinGen TOPMed |
|
|
CA392780476 rs1348518536 |
156 | D>G | No |
ClinGen gnomAD |
|
|
rs1212669184 CA392780480 |
156 | D>N | No |
ClinGen gnomAD |
|
|
CA7573277 rs763887148 |
157 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7573276 rs760350791 |
158 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1299964957 CA392780464 |
158 | D>G | No |
ClinGen gnomAD |
|
|
CA7573275 rs775329023 |
159 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1358016739 CA392780459 |
159 | M>V | No |
ClinGen TOPMed |
|
|
rs771954608 CA7573274 |
160 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs369049485 CA7573273 |
161 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774073894 CA7573272 |
162 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7573271 rs770500399 |
164 | P>K | No |
ClinGen ExAC gnomAD |
|
|
CA271239411 rs770500399 |
164 | P>Q | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9UHA3
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| ribosome | An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| structural constituent of ribosome | The action of a molecule that contributes to the structural integrity of the ribosome. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| 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. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q07915 | RLP24 | Ribosome biogenesis protein RLP24 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q3SZ12 | RSL24D1 | Probable ribosome biogenesis protein RLP24 | Bos taurus (Bovine) | PR |
| Q99L28 | Rsl24d1 | Probable ribosome biogenesis protein RLP24 | Mus musculus (Mouse) | PR |
| Q6P6G7 | Rsl24d1 | Probable ribosome biogenesis protein RLP24 | Rattus norvegicus (Rat) | PR |
| Q17606 | rpl-24.2 | Probable ribosome biogenesis protein RLP24 | Caenorhabditis elegans | PR |
| Q7ZTZ2 | rsl24d1 | Probable ribosome biogenesis protein RLP24 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRIEKCYFCS | GPIYPGHGMM | FVRNDCKVFR | FCKSKCHKNF | KKKRNPRKVR | WTKAFRKAAG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KELTVDNSFE | FEKRRNEPIK | YQRELWNKTI | DAMKRVEEIK | QKRQAKFIMN | RLKKNKELQK |
| 130 | 140 | 150 | 160 | ||
| VQDIKEVKQN | IHLIRAPLAG | KGKQLEEKMV | QQLQEDVDME | DAP |