P10909
PR
Gene name |
CLU |
Protein name |
Clusterin |
Names |
Aging-associated gene 4 protein, Apolipoprotein J, Apo-J, Complement cytolysis inhibitor, CLI, Complement-associated protein SP-40,40, Ku70-binding protein 1, NA1/NA2, Sulfated glycoprotein 2, SGP-2, Testosterone-repressed prostate message 2, TRPM-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1191 |
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 P10909
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7ZET | X-ray | 280 A | A | 23-449 | PDB |
| 7ZEU | X-ray | 350 A | A/D | 23-449 | PDB |
| AF-P10909-F1 | Predicted | AlphaFoldDB |
354 variants for P10909
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs41276297 RCV000590968 CA4690924 RCV000955185 |
203 | T>I | Alzheimer disease Alzheimer disease (ad) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA370823212 rs1190119879 |
4 | T>A | No |
ClinGen gnomAD |
|
|
rs1229727998 CA370823196 |
4 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 5 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs989659621 CA174277020 |
6 | L>Q | No |
ClinGen TOPMed |
|
|
CA370823179 rs1463321251 |
6 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4691103 rs772400134 |
8 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs745985571 CA4691102 |
9 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA370822871 rs1443898354 |
9 | V>L | No |
ClinGen gnomAD |
|
|
rs150750334 CA4691099 |
15 | W>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4691100 rs180798973 |
15 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1585256674 CA370822833 |
16 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 17 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA174276949 rs11555227 |
17 | S>R | No |
ClinGen Ensembl |
|
|
CA370822813 rs1488726582 |
19 | Q>K | No |
ClinGen TOPMed |
|
|
rs1585256659 CA370822800 |
20 | V>G | No |
ClinGen Ensembl |
|
|
rs1269799789 CA370822804 |
20 | V>L | No |
ClinGen gnomAD |
|
|
CA4691096 rs748503484 |
21 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754279494 CA174276943 |
21 | L>V | No |
ClinGen Ensembl |
|
|
rs1348991193 CA370822785 |
23 | D>V | No |
ClinGen gnomAD |
|
|
rs543157739 CA370822771 |
25 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4691094 rs543157739 |
25 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370822770 rs543157739 |
25 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370822769 rs1170008221 |
26 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 27 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775044236 CA174276876 |
29 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA370822746 rs775044236 |
29 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4691090 rs750440670 |
32 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA370822721 rs1235465645 |
33 | E>Q | No |
ClinGen gnomAD |
|
|
rs201809865 CA4691062 |
36 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1453425479 CA370822622 |
36 | N>S | No |
ClinGen TOPMed |
|
|
rs1330193914 CA370822577 |
40 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA370822562 rs1390112562 |
41 | Y>C | No |
ClinGen gnomAD |
|
|
CA370822555 rs1401195010 |
42 | V>I | No |
ClinGen TOPMed |
|
|
CA174275921 rs939130413 |
43 | N>S | No |
ClinGen Ensembl |
|
|
CA370822478 rs1293674091 |
48 | N>S | No |
ClinGen gnomAD |
|
|
CA174275916 rs113632015 |
50 | V>A | No |
ClinGen gnomAD |
|
|
rs747320736 CA4691058 |
52 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs779803164 CA4691057 |
54 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759256899 CA174275895 |
55 | Q>E | No |
ClinGen TOPMed |
|
|
CA370822410 rs759256899 |
55 | Q>K | No |
ClinGen TOPMed |
|
|
CA370822396 rs1371918127 |
56 | I>M | No |
ClinGen TOPMed |
|
|
CA174275888 rs1021437011 |
56 | I>T | No |
ClinGen TOPMed |
|
|
rs771592746 CA370822381 |
57 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs138211435 CA4691051 |
63 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs747368775 | 63 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146277764 CA4691047 |
64 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777850013 CA4691048 |
64 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4691045 rs766667870 |
65 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760456252 CA4691044 |
67 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs11555224 CA174275819 |
67 | R>S | No |
ClinGen Ensembl |
|
|
CA370822137 rs750597031 |
73 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA174275811 rs956433124 |
74 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4691041 rs372043736 |
76 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4691042 rs372043736 |
76 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777178481 CA4691040 |
78 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370821964 rs1313161587 |
86 | N>Y | No |
ClinGen gnomAD |
|
|
rs1563387194 CA370821914 |
93 | T>A | No |
ClinGen Ensembl |
|
|
CA174274106 rs747405696 |
98 | L>F | No |
ClinGen Ensembl |
|
|
CA370821875 rs772883860 |
99 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA370821871 rs1388938418 |
99 | P>L | No |
ClinGen TOPMed |
|
|
rs772883860 CA4691012 |
99 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1205306982 CA370821866 |
100 | G>E | No |
ClinGen gnomAD |
|
|
rs769302852 CA4691011 |
101 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs566482326 CA4691010 |
102 | C>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1249286988 CA370821859 |
102 | C>R | No |
ClinGen gnomAD |
|
|
CA4691008 rs754785720 |
105 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773376852 CA4691005 |
106 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4691006 rs779145648 |
106 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs764173759 CA4691003 |
107 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs754010296 CA4691004 |
107 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4691002 rs756152921 |
108 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs11555226 CA174274054 |
109 | L>I | No |
ClinGen Ensembl |
|
|
CA370821423 rs1461611022 |
112 | E>A | No |
ClinGen gnomAD |
|
|
CA4691001 rs370131630 |
112 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1461611022 CA370821422 |
112 | E>G | No |
ClinGen gnomAD |
|
|
CA370821413 rs1233946390 |
113 | C>R | No |
ClinGen TOPMed |
|
|
CA370821386 rs1488320255 |
115 | P>A | No |
ClinGen Ensembl |
|
|
CA4690998 rs751945159 |
122 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370821224 rs138190443 |
126 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138190443 CA4690995 |
126 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377249021 CA4690994 |
126 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4690993 rs769250405 |
127 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4690992 rs761369634 |
127 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs150438413 RCV000901031 CA4690990 |
128 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs779845036 CA4690988 |
133 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4690986 rs369037481 |
135 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4690985 rs757239189 |
138 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4690984 rs756208273 |
138 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757239189 CA174273990 |
138 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 140 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370821069 rs1270960934 |
143 | F>I | No |
ClinGen gnomAD |
|
|
rs1343749062 CA370821029 |
145 | N>K | No |
ClinGen gnomAD |
|
|
rs1318260275 CA370820994 |
148 | S>A | No |
ClinGen gnomAD |
|
|
rs866333982 CA174273156 |
148 | S>L | No |
ClinGen Ensembl |
|
|
CA4690961 rs758880085 |
152 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs750766384 CA4690960 |
153 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA370820886 rs1474312346 |
154 | M>T | No |
ClinGen gnomAD |
|
|
rs765476640 CA4690959 |
154 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA370820876 rs1241238645 |
155 | N>Y | No |
ClinGen gnomAD |
|
|
CA4690958 rs756955136 |
156 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA370820853 rs934124362 |
157 | D>E | No |
ClinGen TOPMed |
|
|
CA370820857 rs1486647949 |
157 | D>G | No |
ClinGen gnomAD |
|
|
CA4690956 rs772557487 |
158 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4690957 rs772557487 |
158 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 160 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4690954 rs775465384 |
161 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs767422699 CA370820773 |
165 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1008354423 CA174273082 |
166 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs759368233 CA370820753 |
167 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759368233 CA4690952 |
167 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs955492150 CA174273059 |
167 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA370820739 rs1585253932 |
169 | Q>E | No |
ClinGen Ensembl |
|
|
CA370820724 rs774235625 |
170 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774235625 CA4690951 |
170 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA174273046 rs774235625 |
170 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370820704 rs1585253914 |
172 | M>K | No |
ClinGen Ensembl |
|
|
rs768911397 CA4690947 |
172 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747059671 CA4690946 |
174 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370820670 rs1563386464 |
176 | M>V | No |
ClinGen Ensembl |
|
|
rs1407927190 CA370820640 |
178 | D>E | No |
ClinGen gnomAD |
|
|
CA4690945 rs780743354 |
178 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA174272975 rs759003544 |
179 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4690944 rs759003544 |
179 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201670453 CA4690942 |
182 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4690940 rs753592928 |
183 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4690939 rs191783558 |
183 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752173696 CA174272924 |
185 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4690937 rs752173696 |
185 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA174272921 rs140539339 |
186 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs766977147 CA4690936 |
187 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375198703 CA4690934 |
189 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200285402 CA4690933 |
190 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4690932 rs762638813 |
194 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs776955284 CA4690931 |
194 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA370820470 rs1162782565 |
195 | F>L | No |
ClinGen TOPMed |
|
|
CA370820478 rs1299442395 |
195 | F>L | No |
ClinGen gnomAD |
|
|
CA4690930 rs151312210 |
197 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1585253847 CA370820455 |
197 | T>P | No |
ClinGen Ensembl |
|
|
CA4690929 rs151312210 |
197 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4690927 rs772213093 |
198 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4690928 rs371872334 |
198 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs746401654 CA4690926 |
201 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779275036 CA4690925 |
202 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs779275036 CA370820412 |
202 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA370820401 rs1585253829 |
203 | T>P | No |
ClinGen Ensembl |
|
|
CA370820383 rs1410052189 |
204 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs749584306 CA4690923 |
204 | Y>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 205 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1179074176 CA370820378 |
205 | H>Y | No |
ClinGen gnomAD |
|
|
rs780087248 CA174272782 |
206 | Y>F | No |
ClinGen Ensembl |
|
|
CA370820370 rs777449771 |
206 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA4690922 rs777449771 |
206 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1470112369 CA370820344 |
208 | P>L | No |
ClinGen gnomAD |
|
|
rs1000466509 CA174272767 |
210 | S>R | No |
ClinGen TOPMed |
|
|
CA370820324 rs1233044790 |
211 | L>R | No |
ClinGen gnomAD |
|
|
CA370820314 rs1309753840 |
213 | H>P | No |
ClinGen gnomAD |
|
|
CA370820310 rs1221611038 CA370820311 |
213 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA174272762 rs565436689 |
213 | H>Y | No |
ClinGen 1000Genomes |
|
|
rs141383962 CA174272705 |
214 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141383962 CA4690916 |
214 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4690918 rs368909826 |
214 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs762859453 CA4690915 |
215 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA4690914 rs374573883 |
215 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1325038221 CA370820299 |
216 | P>L | No |
ClinGen gnomAD |
|
|
rs1346934378 CA370820283 |
218 | F>L | No |
ClinGen gnomAD |
|
|
CA4690913 rs765086249 |
218 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA370820284 rs765086249 |
218 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs760984236 CA4690912 |
219 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA370820256 rs1244604053 |
222 | K>T | No |
ClinGen TOPMed |
|
|
CA4690910 rs775798192 |
224 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA4690909 rs371391024 |
224 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs774962493 CA4690907 |
226 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769830551 CA174272620 |
227 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA370820227 rs1172593465 |
227 | R>H | No |
ClinGen TOPMed |
|
|
rs146635793 CA174272614 |
228 | S>N | No |
ClinGen ESP gnomAD |
|
|
CA174272613 rs1051263598 |
228 | S>R | No |
ClinGen Ensembl |
|
|
CA4690906 rs771318822 |
234 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4690903 rs770073721 |
236 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371557794 CA4690901 |
237 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371557794 CA174272552 |
237 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs143973192 CA4690899 |
241 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370820130 rs1453053925 |
242 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1453053925 CA370820129 |
242 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1216874745 CA370820126 |
242 | A>V | No |
ClinGen TOPMed |
|
|
CA370820124 rs1375980805 |
243 | M>V | No |
ClinGen gnomAD |
|
|
rs573456585 CA4690897 |
244 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370820103 rs1306349244 |
245 | Q>H | No |
ClinGen TOPMed |
|
|
CA370820080 rs1224633763 |
249 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 250 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370820069 rs1429499287 |
250 | M>T | No |
ClinGen gnomAD |
|
|
rs1198368036 CA370820072 |
250 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4690894 rs761687566 |
251 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA370820048 rs1488280852 |
252 | H>L | No |
ClinGen gnomAD |
|
|
CA4690893 rs753034836 |
252 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA370820041 rs759710165 |
253 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759710165 CA4690891 |
253 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364194418 CA370820006 |
256 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 256 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762264713 CA174272429 |
256 | Q>R | No |
ClinGen TOPMed |
|
|
rs370704927 CA174272428 |
257 | A>T | No |
ClinGen ESP gnomAD |
|
|
rs774316150 CA4690890 |
258 | M>V | No |
ClinGen ExAC TOPMed |
|
|
CA370819950 rs1227624503 |
260 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA4690889 rs771000549 |
260 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA370819942 rs1293252096 |
261 | H>R | No |
ClinGen gnomAD |
|
|
rs200999462 CA4690888 |
261 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA174272413 CA370819917 rs7982 |
263 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4690886 rs770198186 |
265 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4690883 rs556877096 |
266 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA174272365 rs975597636 |
266 | A>S | No |
ClinGen gnomAD |
|
|
CA370819859 rs893668692 |
268 | Q>L | No |
ClinGen TOPMed |
|
|
CA174272340 rs893668692 |
268 | Q>R | No |
ClinGen TOPMed |
|
|
rs1585253590 CA370819848 |
269 | H>P | No |
ClinGen Ensembl |
|
|
rs149705964 CA4690882 |
270 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370819726 rs1168833638 |
276 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA174271664 rs757282082 |
279 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552103421 CA4690861 |
279 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 279 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4690858 rs777432954 |
280 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs528753124 CA4690859 |
280 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs139565837 CA370818903 |
282 | R>P | No |
ClinGen ESP ExAC TOPMed |
|
|
CA4690856 rs139565837 |
282 | R>Q | No |
ClinGen ESP ExAC TOPMed |
|
|
rs755878741 CA4690857 |
282 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4690855 rs150552076 |
283 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758508760 CA4690854 |
284 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4690851 rs143634423 |
286 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1395478464 CA370818854 |
286 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4690852 rs143634423 |
286 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4690850 rs777141082 |
287 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4690848 rs761097626 |
289 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA4690847 rs775045101 |
289 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA370818775 rs1177465526 |
290 | H>Q | No |
ClinGen gnomAD |
|
|
rs549647960 CA4690846 |
290 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370818738 rs563432916 |
293 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4690843 rs563432916 |
293 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4690844 rs563432916 |
293 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4690840 rs372415096 |
297 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4690841 rs777749323 |
297 | R>W | Variant assessed as Somatic; 9.248e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA370818690 rs1202397973 |
298 | M>V | No |
ClinGen gnomAD |
|
|
rs1206761663 CA370818648 |
300 | D>E | No |
ClinGen gnomAD |
|
|
CA370818645 rs1352941838 |
301 | Q>* | No |
ClinGen gnomAD |
|
|
CA370818642 rs1469465665 |
301 | Q>R | No |
ClinGen TOPMed |
|
|
CA370818628 rs1284054844 |
302 | C>Y | No |
ClinGen gnomAD |
|
|
CA4690839 rs1803289 |
303 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA174271522 rs1803289 |
303 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372063497 CA4690836 |
306 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754372820 CA4690833 |
311 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 312 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777664923 CA4690810 |
316 | N>I | No |
ClinGen ExAC gnomAD |
|
|
VAR_019366 rs9331936 CA4690809 |
317 | N>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1179456799 CA370817253 |
319 | S>F | No |
ClinGen gnomAD |
|
|
CA4690807 rs768006391 |
320 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357912448 CA370817192 |
322 | K>N | No |
ClinGen gnomAD |
|
|
CA370817174 rs1446623022 |
324 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs148094370 CA4690806 |
324 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143708004 CA4690804 |
325 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4690805 rs751321668 |
325 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1585251009 CA370817154 |
326 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 327 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370817104 rs9331939 |
328 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4690802 RCV000956581 VAR_019367 rs9331938 |
328 | D>N | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1476182021 CA370817101 |
329 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1415557488 CA370817045 |
332 | Q>R | No |
ClinGen gnomAD |
|
|
rs368729462 CA4690800 |
333 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1233698198 CA370817016 |
334 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4690797 rs552220660 |
339 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370816939 rs1214691222 |
339 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA370816906 rs1337647693 |
342 | N>D | No |
ClinGen gnomAD |
|
|
rs145083142 CA4690794 |
343 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370816891 rs771208664 |
343 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4690795 rs771208664 |
343 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370232504 CA174267964 |
346 | K>E | No |
ClinGen ESP TOPMed |
|
|
rs532393133 CA4690791 |
346 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4690790 rs781762653 |
348 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1351125347 CA370816855 |
348 | Y>H | No |
ClinGen gnomAD |
|
|
CA4690788 rs755431340 |
349 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1163924966 CA370816829 |
351 | K>R | No |
ClinGen gnomAD |
|
|
rs1180580726 CA370816793 |
356 | S>F | No |
ClinGen gnomAD |
|
|
rs766797063 CA4690786 |
360 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1295522870 CA370816765 |
361 | Q>K | No |
ClinGen TOPMed |
|
|
CA174267922 rs1013892347 |
364 | E>G | No |
ClinGen Ensembl |
|
|
rs566482024 CA4690784 |
364 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs566482024 CA174267928 |
364 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1318045438 CA370816709 |
368 | W>* | No |
ClinGen gnomAD |
|
|
CA370816712 rs1221394789 |
368 | W>* | No |
ClinGen gnomAD |
|
|
rs1318045438 CA370816708 |
368 | W>C | No |
ClinGen gnomAD |
|
|
CA370816705 rs1207400540 |
369 | V>M | No |
ClinGen TOPMed |
|
|
rs769022664 CA4690781 |
371 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370816693 rs368146141 |
371 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201024088 CA174267883 |
376 | T>M | No |
ClinGen 1000Genomes TOPMed |
|
|
rs146625005 CA4690776 |
379 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4690775 rs775954696 |
380 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431473888 CA370816632 |
381 | Q>E | No |
ClinGen gnomAD |
|
|
CA370816612 rs1346880038 |
383 | Y>C | No |
ClinGen gnomAD |
|
|
CA4690773 rs769980437 |
385 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4690774 rs773292162 |
385 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 386 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA174267831 rs145912562 |
386 | V>I | No |
ClinGen ESP gnomAD |
|
|
rs375247155 CA370816586 |
388 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375247155 CA4690771 |
388 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1585250203 CA370816563 |
390 | A>V | No |
ClinGen Ensembl |
|
|
CA370816547 rs1369948122 |
393 | T>A | No |
ClinGen TOPMed |
|
|
rs13494 RCV000888734 VAR_019368 CA4690750 |
396 | S>L | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs13494 CA174267022 |
396 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1477812662 CA370816512 |
398 | V>G | No |
ClinGen gnomAD |
|
|
CA4690747 rs746198403 |
398 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1419183581 CA370816507 |
399 | P>L | No |
ClinGen gnomAD |
|
|
rs1295848943 CA370816501 |
400 | S>C | No |
ClinGen Ensembl |
|
|
CA4690745 rs371136657 |
401 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777278441 CA4690743 |
402 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777278441 CA370816490 |
402 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1047504232 CA174266968 |
406 | V>F | No |
ClinGen Ensembl |
|
|
CA4690741 rs752745432 |
407 | V>G | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel CA174266966 rs975642887 |
407 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed gnomAD |
|
CA370816464 rs975642887 |
407 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA370816452 rs1285843397 |
409 | L>F | No |
ClinGen gnomAD |
|
|
rs767322464 CA4690740 |
414 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4690738 rs531300634 |
415 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA370816399 rs1392254352 |
417 | V>M | No |
ClinGen gnomAD |
|
|
CA4690737 rs542640308 |
418 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762143137 CA4690735 |
419 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1016570806 CA174266926 |
419 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1585250110 CA370816379 |
420 | P>L | No |
ClinGen Ensembl |
|
|
CA174266915 rs982521598 |
421 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA370816375 rs982521598 |
421 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1318144832 CA370816378 |
421 | V>I | No |
ClinGen gnomAD |
|
|
CA174266884 rs546888788 |
424 | S>Y | No |
ClinGen Ensembl |
|
|
rs1302845268 CA370816354 |
425 | R>G | No |
ClinGen TOPMed |
|
|
CA370816350 rs1367453554 |
425 | R>M | No |
ClinGen gnomAD |
|
|
rs1364069854 CA370816341 |
426 | K>N | No |
ClinGen TOPMed |
|
|
rs917121299 CA174266879 |
430 | F>V | No |
ClinGen Ensembl |
|
|
CA370816305 rs1563382888 |
431 | M>T | No |
ClinGen Ensembl |
|
|
CA174266871 rs951194222 |
432 | E>K | No |
ClinGen TOPMed |
|
|
CA370816293 rs992719780 |
433 | T>A | No |
ClinGen gnomAD |
|
|
rs760810105 CA4690732 |
433 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA174266862 rs992719780 |
433 | T>S | No |
ClinGen gnomAD |
|
|
CA370816290 rs772478867 |
434 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4690730 rs772478867 |
434 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA174266845 rs1034802405 |
435 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs779152181 CA4690728 |
438 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1159853800 CA370816218 |
441 | E>G | No |
ClinGen gnomAD |
|
|
CA4690725 rs777397743 |
441 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4690724 rs755660655 |
443 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4690723 rs376113829 |
443 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs755660655 CA370816198 |
443 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201231022 CA4690722 |
444 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1130993 CA174266819 |
446 | H>P | No |
ClinGen Ensembl |
|
|
rs752403477 CA174266817 |
446 | H>Q | No |
ClinGen Ensembl |
|
|
CA174266815 rs543267224 |
447 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751443599 CA4690720 |
447 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4690721 rs543267224 |
447 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4690699 rs780569687 |
448 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457354519 CA370815693 |
449 | E>K | No |
ClinGen TOPMed |
|
|
rs754501169 CA4690698 |
450 | E>G | No |
ClinGen ExAC gnomAD |
No associated diseases with P10909
4 regional properties for P10909
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Clusterin, N-terminal | 22 - 227 | IPR016014 |
| domain | Clusterin, C-terminal | 228 - 443 | IPR016015 |
| conserved_site | Clusterin, conserved site | 112 - 120 | IPR033986-1 |
| conserved_site | Clusterin, conserved site | 295 - 305 | IPR033986-2 |
22 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical dendrite | A dendrite that emerges near the apical pole of a neuron. In bipolar neurons, apical dendrites are located on the opposite side of the soma from the axon. |
| blood microparticle | A phospholipid microvesicle that is derived from any of several cell types, such as platelets, blood cells, endothelial cells, or others, and contains membrane receptors as well as other proteins characteristic of the parental cell. Microparticles are heterogeneous in size, and are characterized as microvesicles free of nucleic acids. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| chromaffin granule | Specialized secretory vesicle found in the cells of adrenal glands and various other organs, which is concerned with the synthesis, storage, metabolism, and secretion of epinephrine and norepinephrine. |
| collagen-containing extracellular matrix | An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. |
| 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. |
| 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. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| neurofibrillary tangle | Intracellular mass of paired, helically wound protein filaments (also called PHF) lying in the cytoplasm of neuronal cell bodies and neuritic cell processes. Neurofibrillary tangles contain an abnormally phosphorylated form of a microtubule-associated protein, tau. The shape of these inclusions may resemble a flame or a star. |
| 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. |
| perinuclear endoplasmic reticulum lumen | The volume enclosed by the membranes of the perinuclear endoplasmic reticulum. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| platelet alpha granule lumen | The volume enclosed by the membrane of the platelet alpha granule. |
| 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. |
| spherical high-density lipoprotein particle | A mature high-density lipoprotein (HDL) particle, converted from discoidal HDL particles following the esterification of cholesterol in the particle by phosphatidylcholine-sterol O-acyltransferase (lecithin cholesterol acyltransferase; LCAT). |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
11 GO annotations of molecular function
| Name | Definition |
|---|---|
| amyloid-beta binding | Binding to an amyloid-beta peptide/protein. |
| chaperone binding | Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport. |
| low-density lipoprotein particle receptor binding | Binding to a low-density lipoprotein receptor. |
| misfolded protein binding | Binding to a misfolded protein. |
| protein carrier chaperone | Binding to and carrying a protein between two different cellular components by moving along with the target protein. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| protein-containing complex binding | Binding to a macromolecular complex. |
| signaling receptor binding | Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
| tau protein binding | Binding to tau protein. tau is a microtubule-associated protein, implicated in Alzheimer's disease, Down Syndrome and ALS. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
| unfolded protein binding | Binding to an unfolded protein. |
48 GO annotations of biological process
| Name | Definition |
|---|---|
| cell morphogenesis | The developmental process in which the size or shape of a cell is generated and organized. |
| central nervous system myelin maintenance | The process in which the structure and material content of mature central nervous system myelin is kept in a functional state. |
| chaperone-mediated protein complex assembly | The aggregation, arrangement and bonding together of a set of components to form a protein complex, mediated by chaperone molecules that do not form part of the finished complex. |
| chaperone-mediated protein folding | The process of inhibiting aggregation and assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure that is dependent on interaction with a chaperone. |
| complement activation | Any process involved in the activation of any of the steps of the complement cascade, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes; the initial steps of complement activation involve one of three pathways, the classical pathway, the alternative pathway, and the lectin pathway, all of which lead to the terminal complement pathway. |
| complement activation, classical pathway | Any process involved in the activation of any of the steps of the classical pathway of the complement cascade which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes. |
| immune complex clearance | A process directed at removing immune complexes from the body. Immune complexes are clusters of antibodies bound to antigen, to which complement may also be fixed, and which may precipitate or remain in solution. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| intrinsic apoptotic signaling pathway | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway starts with reception of an intracellular signal (e.g. DNA damage, endoplasmic reticulum stress, oxidative stress etc.), and ends when the execution phase of apoptosis is triggered. The intrinsic apoptotic signaling pathway is crucially regulated by permeabilization of the mitochondrial outer membrane (MOMP). |
| lipid metabolic process | The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
| microglial cell activation | The change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. |
| microglial cell proliferation | The expansion of a microglial cell population by cell division. |
| negative regulation of amyloid fibril formation | Any process that stops, prevents or reduces the frequency, rate or extent of amyloid fibril formation. |
| negative regulation of amyloid-beta formation | Any process that stops, prevents or reduces the frequency, rate or extent of amyloid-beta formation. |
| negative regulation of cell death | Any process that decreases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. |
| negative regulation of cellular response to thapsigargin | OBSOLETE. Any process that stops, prevents or reduces the frequency, rate or extent of cellular response to thapsigargin. |
| negative regulation of cellular response to tunicamycin | OBSOLETE. Any process that stops, prevents or reduces the frequency, rate or extent of cellular response to tunicamycin. |
| negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage | Any process that stops, prevents or reduces the frequency, rate or extent of intrinsic apoptotic signaling pathway in response to DNA damage. |
| negative regulation of protein-containing complex assembly | Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly. |
| negative regulation of release of cytochrome c from mitochondria | Any process that decreases the rate, frequency or extent of release of cytochrome c from mitochondria, the process in which cytochrome c is enabled to move from the mitochondrial intermembrane space into the cytosol, which is an early step in apoptosis and leads to caspase activation. |
| negative regulation of response to endoplasmic reticulum stress | Any process that stops, prevents or reduces the frequency, rate or extent of a response to endoplasmic reticulum stress. |
| positive regulation of amyloid fibril formation | Any process that activates or increases the frequency, rate or extent of amyloid fibril formation. |
| positive regulation of amyloid-beta formation | Any process that activates or increases the frequency, rate or extent of amyloid-beta formation. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of intrinsic apoptotic signaling pathway | Any process that activates or increases the frequency, rate or extent of intrinsic apoptotic signaling pathway. |
| positive regulation of neurofibrillary tangle assembly | Any process that activates or increases the frequency, rate or extent of neurofibrillary tangle assembly. |
| positive regulation of neuron death | Any process that activates or increases the frequency, rate or extent of neuron death. |
| positive regulation of NF-kappaB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. |
| positive regulation of nitric oxide biosynthetic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nitric oxide. |
| positive regulation of proteasomal ubiquitin-dependent protein catabolic process | Any process that activates or increases the frequency, rate or extent of the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
| positive regulation of protein-containing complex assembly | Any process that activates or increases the frequency, rate or extent of protein complex assembly. |
| positive regulation of receptor-mediated endocytosis | Any process that activates or increases the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport. |
| positive regulation of tau-protein kinase activity | Any process that activates or increases the frequency, rate or extent of tau-protein kinase activity. |
| positive regulation of tumor necrosis factor production | Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production. |
| positive regulation of ubiquitin-dependent protein catabolic process | Any process that activates or increases the frequency, rate or extent of ubiquitin-dependent protein catabolic process. |
| protein import | The targeting and directed movement of proteins into a cell or organelle. Not all import involves an initial targeting event. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
| protein targeting to lysosome involved in chaperone-mediated autophagy | The targeting of a protein to the lysosome process in which an input protein binds to a chaperone and subsequently to a lysosomal receptor. |
| regulation of amyloid-beta clearance | Any process that modulates the frequency, rate or extent of amyloid-beta clearance. |
| regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
| regulation of cell population proliferation | Any process that modulates the frequency, rate or extent of cell proliferation. |
| regulation of neuron death | Any process that modulates the frequency, rate or extent of neuron death. |
| regulation of neuronal signal transduction | Any process that modulates the frequency, rate or extent of neuronal signal transduction. |
| release of cytochrome c from mitochondria | The process that results in the movement of cytochrome c from the mitochondrial intermembrane space into the cytosol, which is part of the apoptotic signaling pathway and leads to caspase activation. |
| response to misfolded protein | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a misfolded protein stimulus. |
| response to virus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. |
| reverse cholesterol transport | The directed movement of peripheral cell cholesterol, cholest-5-en-3-beta-ol, towards the liver for catabolism. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMKTLLLFVG | LLLTWESGQV | LGDQTVSDNE | LQEMSNQGSK | YVNKEIQNAV | NGVKQIKTLI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EKTNEERKTL | LSNLEEAKKK | KEDALNETRE | SETKLKELPG | VCNETMMALW | EECKPCLKQT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CMKFYARVCR | SGSGLVGRQL | EEFLNQSSPF | YFWMNGDRID | SLLENDRQQT | HMLDVMQDHF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SRASSIIDEL | FQDRFFTREP | QDTYHYLPFS | LPHRRPHFFF | PKSRIVRSLM | PFSPYEPLNF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HAMFQPFLEM | IHEAQQAMDI | HFHSPAFQHP | PTEFIREGDD | DRTVCREIRH | NSTGCLRMKD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QCDKCREILS | VDCSTNNPSQ | AKLRRELDES | LQVAERLTRK | YNELLKSYQW | KMLNTSSLLE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QLNEQFNWVS | RLANLTQGED | QYYLRVTTVA | SHTSDSDVPS | GVTEVVVKLF | DSDPITVTVP |
| 430 | 440 | ||||
| VEVSRKNPKF | METVAEKALQ | EYRKKHREE |