P46783
PR
Gene name |
RPS10 |
Protein name |
40S ribosomal protein S10 |
Names |
Small ribosomal subunit protein eS10 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6204 |
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
81 structures for P46783
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4UG0 | EM | - | SK | 1-165 | PDB |
| 4V6X | EM | 500 A | AK | 1-165 | PDB |
| 5A2Q | EM | 390 A | K | 1-165 | PDB |
| 5AJ0 | EM | 350 A | BK | 1-165 | PDB |
| 5FLX | EM | 390 A | K | 1-165 | PDB |
| 5LKS | EM | 360 A | SK | 1-165 | PDB |
| 5OA3 | EM | 430 A | K | 1-165 | PDB |
| 5T2C | EM | 360 A | Av | 1-165 | PDB |
| 5VYC | X-ray | 600 A | K1/K2/K3/K4/K5/K6 | 1-165 | PDB |
| 6FEC | EM | 630 A | t | 1-98 | PDB |
| 6G51 | EM | 410 A | K | 1-165 | PDB |
| 6G53 | EM | 450 A | K | 1-165 | PDB |
| 6G5H | EM | 360 A | K | 1-165 | PDB |
| 6G5I | EM | 350 A | K | 1-165 | PDB |
| 6IP5 | EM | 390 A | 2u | 1-165 | PDB |
| 6IP6 | EM | 450 A | 2u | 1-165 | PDB |
| 6IP8 | EM | 390 A | 2u | 1-165 | PDB |
| 6OLE | EM | 310 A | SK | 1-98 | PDB |
| 6OLF | EM | 390 A | SK | 1-98 | PDB |
| 6OLG | EM | 340 A | BK | 1-98 | PDB |
| 6OLI | EM | 350 A | SK | 1-98 | PDB |
| 6OLZ | EM | 390 A | BK | 1-98 | PDB |
| 6OM0 | EM | 310 A | SK | 1-98 | PDB |
| 6OM7 | EM | 370 A | SK | 1-98 | PDB |
| 6QZP | EM | 290 A | SK | 1-98 | PDB |
| 6XA1 | EM | 280 A | SK | 1-95 | PDB |
| 6Y0G | EM | 320 A | SK | 1-165 | PDB |
| 6Y2L | EM | 300 A | SK | 1-165 | PDB |
| 6Y57 | EM | 350 A | SK | 1-165 | PDB |
| 6YBS | EM | 310 A | a | 1-165 | PDB |
| 6Z6L | EM | 300 A | SK | 1-165 | PDB |
| 6Z6M | EM | 310 A | SK | 1-165 | PDB |
| 6Z6N | EM | 290 A | SK | 1-165 | PDB |
| 6ZLW | EM | 260 A | M | 1-165 | PDB |
| 6ZM7 | EM | 270 A | SK | 1-165 | PDB |
| 6ZME | EM | 300 A | SK | 1-165 | PDB |
| 6ZMI | EM | 260 A | SK | 1-165 | PDB |
| 6ZMO | EM | 310 A | SK | 1-165 | PDB |
| 6ZMT | EM | 300 A | M | 1-165 | PDB |
| 6ZMW | EM | 370 A | a | 1-165 | PDB |
| 6ZN5 | EM | 320 A | M | 3-97 | PDB |
| 6ZOJ | EM | 280 A | K | 1-165 | PDB |
| 6ZOL | EM | 280 A | K | 1-165 | PDB |
| 6ZON | EM | 300 A | u | 1-165 | PDB |
| 6ZP4 | EM | 290 A | u | 1-165 | PDB |
| 6ZUO | EM | 310 A | K | 1-165 | PDB |
| 6ZV6 | EM | 290 A | K | 1-165 | PDB |
| 6ZVH | EM | 290 A | K | 1-98 | PDB |
| 6ZVJ | EM | 380 A | u | 1-95 | PDB |
| 6ZXD | EM | 320 A | K | 1-165 | PDB |
| 6ZXE | EM | 300 A | K | 1-165 | PDB |
| 6ZXF | EM | 370 A | K | 1-165 | PDB |
| 6ZXG | EM | 260 A | K | 1-165 | PDB |
| 6ZXH | EM | 270 A | K | 1-165 | PDB |
| 7A09 | EM | 350 A | u | 1-165 | PDB |
| 7K5I | EM | 290 A | K | 1-165 | PDB |
| 7QP6 | EM | 470 A | a | 1-165 | PDB |
| 7QP7 | EM | 370 A | a | 1-165 | PDB |
| 7QVP | EM | 300 A | RK/SK | 1-165 | PDB |
| 7R4X | EM | 215 A | K | 1-165 | PDB |
| 7TQL | EM | 340 A | M | 1-97 | PDB |
| 7XNX | EM | 270 A | SK | 1-165 | PDB |
| 7XNY | EM | 250 A | SK | 1-165 | PDB |
| 8G5Y | EM | 229 A | SK | 1-165 | PDB |
| 8G60 | EM | 254 A | SK | 1-165 | PDB |
| 8G61 | EM | 294 A | SK | 1-165 | PDB |
| 8G6J | EM | 280 A | SK | 1-165 | PDB |
| 8GLP | EM | 167 A | SK | 1-165 | PDB |
| 8IFD | EM | 259 A | 2u | 1-165 | PDB |
| 8IFE | EM | 257 A | 2u | 1-165 | PDB |
| 8JDJ | EM | 250 A | 7 | 1-165 | PDB |
| 8JDK | EM | 226 A | 7 | 1-165 | PDB |
| 8JDL | EM | 242 A | 7 | 1-165 | PDB |
| 8JDM | EM | 267 A | 7 | 1-165 | PDB |
| 8OZ0 | EM | 350 A | i | 1-165 | PDB |
| 8PPK | EM | 298 A | K | 1-165 | PDB |
| 8PPL | EM | 265 A | AK | 1-165 | PDB |
| 8T4S | EM | 260 A | K | 1-165 | PDB |
| 8Y0W | EM | 340 A | SK | 1-165 | PDB |
| 8Y0X | EM | 330 A | SK | 1-165 | PDB |
| AF-P46783-F1 | Predicted | AlphaFoldDB |
95 variants for P46783
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs267607021 RCV000006562 |
1 | M>I | Diamond-Blackfan anemia 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1426463647 CA363885842 RCV001292787 RCV001061909 |
14 | L>F | Diamond-Blackfan anemia Diamond-Blackfan anemia 9 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001493828 RCV002523566 RCV000309035 CA3765138 rs201147592 |
24 | K>R | Diamond-Blackfan anemia Diamond-Blackfan anemia 9 Diamond-blackfan anemia 9 (dba9) Inborn genetic diseases [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs755445102 CA3765137 RCV001292715 RCV002541816 |
30 | P>L | Diamond-Blackfan anemia Diamond-Blackfan anemia 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000399820 RCV001465249 rs374314919 CA3765133 |
37 | D>E | Diamond-Blackfan anemia Diamond-Blackfan anemia 9 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000006563 rs1581931541 |
88 | E>missing | Diamond-Blackfan anemia 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1581931439 RCV000809206 |
96 | R>missing | Diamond-Blackfan anemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001225119 rs1765891593 |
100 | E>missing | Diamond-Blackfan anemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267607022 CA253791 RCV001851701 RCV000006564 |
113 | R>* | Diamond-Blackfan anemia Diamond-Blackfan anemia 9 Diamond-blackfan anemia 9 (dba9) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000296061 rs886061322 |
122 | A>T | Diamond-Blackfan anemia 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759213353 RCV001239409 CA3765042 |
134 | P>S | Diamond-Blackfan anemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001153245 CA3765014 rs368791535 |
146 | S>L | Diamond-Blackfan anemia 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3765146 rs769640960 |
5 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1320777912 CA363885932 |
8 | R>Q | No |
ClinGen gnomAD |
|
|
CA3765145 rs745760166 |
8 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3765144 rs776004367 |
9 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363885889 rs1363536947 |
10 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs777378930 CA3765141 |
11 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1561940617 CA363885759 |
18 | E>D | No |
ClinGen Ensembl |
|
|
rs1452621781 CA363885735 |
21 | M>L | No |
ClinGen gnomAD |
|
|
rs1452621781 CA363885733 |
21 | M>V | No |
ClinGen gnomAD |
|
|
rs1250032236 CA363885673 |
23 | A>V | No |
ClinGen gnomAD |
|
|
rs1485682684 CA363885633 |
25 | K>T | No |
ClinGen gnomAD |
|
|
CA3765136 rs754370248 |
33 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1561940581 CA363885480 |
34 | E>K | No |
ClinGen Ensembl |
|
|
CA3765134 rs756244110 |
36 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA137091324 rs997214620 |
42 | N>K | No |
ClinGen Ensembl |
|
|
rs1297727311 CA363885419 |
42 | N>S | No |
ClinGen gnomAD |
|
|
rs901504147 CA137091319 |
43 | L>R | No |
ClinGen Ensembl |
|
|
rs762075675 CA3765131 |
44 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA363885394 rs1360860961 |
46 | M>T | No |
ClinGen TOPMed |
|
|
CA3765128 rs566800602 |
48 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs527970843 CA3765129 |
48 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1333208932 CA363885315 |
56 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200140933 CA137091211 |
59 | K>N | No |
ClinGen Ensembl |
|
|
CA3765108 rs764999153 |
61 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA3765107 rs759352522 |
61 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs766328715 CA363885265 |
63 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs766328715 CA3765105 |
63 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3765101 rs761435380 |
67 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774035432 CA3765100 |
68 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1352758715 CA363885213 |
70 | Y>H | No |
ClinGen gnomAD |
|
|
rs1581931607 CA363885210 |
70 | Y>S | No |
ClinGen Ensembl |
|
|
CA3765098 rs553744707 |
72 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA363885199 rs1581931592 |
72 | T>P | No |
ClinGen Ensembl |
|
|
CA363885195 rs553744707 |
72 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1295363749 CA363885156 |
78 | Y>H | No |
ClinGen gnomAD |
|
|
CA3765095 rs746307291 |
79 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs892294131 CA137091184 |
80 | R>C | No |
ClinGen gnomAD |
|
|
rs1561940298 CA363885127 |
82 | Y>C | No |
ClinGen Ensembl |
|
|
rs751777525 CA3765092 |
91 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3765091 rs369059115 |
92 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363885056 rs1209241930 |
93 | T>I | No |
ClinGen TOPMed |
|
|
CA363885050 rs758507410 |
95 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs758507410 CA3765090 |
95 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA3765089 rs753649212 |
96 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467679119 CA363885043 |
96 | R>H | No |
ClinGen gnomAD |
|
|
rs145746888 CA3765085 |
97 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750347786 CA3765084 |
98 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA3765083 rs761359260 |
98 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3765082 rs761359260 |
98 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334541038 CA363885014 |
101 | T>S | No |
ClinGen gnomAD |
|
|
rs1441697904 CA363884996 |
104 | P>A | No |
ClinGen gnomAD |
|
|
CA3765079 rs762633508 |
104 | P>L | No |
ClinGen ExAC |
|
|
CA363884982 rs1561940162 |
106 | P>L | No |
ClinGen Ensembl |
|
|
CA3765055 rs773409373 |
108 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA3765054 rs772032285 |
109 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs934214756 CA137090248 |
112 | E>Q | No |
ClinGen gnomAD |
|
|
rs1212145377 CA363886630 |
113 | R>Q | No |
ClinGen gnomAD |
|
|
rs1347832129 CA363886625 |
114 | P>S | No |
ClinGen gnomAD |
|
|
CA363886618 rs774624551 |
115 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774624551 CA3765053 |
115 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3765052 rs774624551 |
115 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269824016 CA363886602 |
118 | T>S | No |
ClinGen gnomAD |
|
|
rs757221282 CA3765048 |
119 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA137090232 rs920896643 |
121 | E>G | No |
ClinGen TOPMed |
|
|
CA3765045 rs757956413 |
124 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA363886547 rs1170462071 |
126 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1170462071 CA363886549 |
126 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1170462071 CA363886548 |
126 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3765044 rs752436029 |
129 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA3765043 rs765012296 |
131 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs768038583 CA3765017 |
137 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3765016 rs762252535 |
141 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581922670 CA363886039 |
146 | S>A | No |
ClinGen Ensembl |
|
|
CA363886031 rs1365505109 |
147 | A>G | No |
ClinGen gnomAD |
|
|
CA363886020 rs1478299210 |
149 | E>G | No |
ClinGen TOPMed |
|
|
rs775548399 CA3765012 |
149 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA363885596 rs1256679411 |
155 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1208719728 CA363885546 |
160 | R>C | No |
ClinGen gnomAD |
|
|
rs139095177 CA3764983 |
160 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363885541 rs1354469695 |
161 | G>C | No |
ClinGen TOPMed |
|
|
CA363885509 rs1251391177 |
163 | P>R | No |
ClinGen gnomAD |
|
|
CA363885499 rs1226151295 |
164 | P>R | No |
ClinGen gnomAD |
|
|
CA3764981 rs778794141 |
165 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with P46783
[MIM: 613308]: Diamond-Blackfan anemia 9 (DBA9)
A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. {ECO:0000269|PubMed:20116044}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. {ECO:0000269|PubMed:20116044}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for P46783
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Plectin/S10, N-terminal | 3 - 97 | IPR005326 |
Functions
9 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 ribosome | A ribosome located in the cytosol. |
| cytosolic small ribosomal subunit | The small subunit of 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. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
2 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. |
| 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. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLMPKKNRIA | IYELLFKEGV | MVAKKDVHMP | KHPELADKNV | PNLHVMKAMQ | SLKSRGYVKE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QFAWRHFYWY | LTNEGIQYLR | DYLHLPPEIV | PATLRRSRPE | TGRPRPKGLE | GERPARLTRG |
| 130 | 140 | 150 | 160 | ||
| EADRDTYRRS | AVPPGADKKA | EAGAGSATEF | QFRGGFGRGR | GQPPQ |