P78380
Gene name |
OLR1 (CLEC8A, LOX1) |
Protein name |
Oxidized low-density lipoprotein receptor 1 |
Names |
Ox-LDL receptor 1, C-type lectin domain family 8 member A, Lectin-like oxidized LDL receptor 1, LOX-1, Lectin-like oxLDL receptor 1, hLOX-1, Lectin-type oxidized LDL receptor 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4973 |
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
13 structures for P78380
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1YPO | X-ray | 300 A | A/B/C/D/E/F/G/H | 142-272 | PDB |
| 1YPQ | X-ray | 140 A | A/B | 136-270 | PDB |
| 1YPU | X-ray | 205 A | A/B | 136-270 | PDB |
| 1YXJ | X-ray | 178 A | A/B | 143-271 | PDB |
| 1YXK | X-ray | 240 A | A/B | 136-270 | PDB |
| 3VLG | X-ray | 230 A | A | 133-273 | PDB |
| 6TL7 | X-ray | 111 A | A/B | 143-273 | PDB |
| 6TL9 | X-ray | 273 A | A/B/C/D/E/F/G/H | 143-273 | PDB |
| 6TLA | X-ray | 216 A | A/B/C | 129-273 | PDB |
| 7R8U | X-ray | 190 A | AAA/BBB | 140-271 | PDB |
| 7W5D | X-ray | 114 A | A/B | 136-273 | PDB |
| 7XMP | X-ray | 127 A | A | 136-273 | PDB |
| AF-P78380-F1 | Predicted | AlphaFoldDB |
207 variants for P78380
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs11053646 VAR_023200 RCV001799590 CA118582 |
167 | K>N | Myocardial infarction, susceptibility to myocardial infarction susceptibility [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1267818705 CA383881300 |
5 | D>Y | No |
ClinGen TOPMed |
|
|
CA383881279 rs1193435510 |
8 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1193435510 CA383881280 |
8 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs952517105 CA232811163 |
9 | Q>H | No |
ClinGen Ensembl |
|
|
CA383881263 rs1565423521 |
10 | T>S | No |
ClinGen Ensembl |
|
|
CA6444441 rs779706155 |
11 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6444440 rs779706155 |
11 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA383881253 rs1209545375 |
12 | K>R | No |
ClinGen gnomAD |
|
|
rs1157378441 CA383881248 |
13 | D>H | No |
ClinGen TOPMed |
|
|
CA6444438 rs751951658 |
15 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757897159 CA6444439 |
15 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764522550 CA6444437 |
17 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1363964661 CA383881214 |
18 | K>Q | No |
ClinGen TOPMed |
|
|
CA232811148 rs141892646 |
20 | N>S | No |
ClinGen ESP TOPMed |
|
|
rs994354306 CA232811145 COSM257601 |
22 | K>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1312687978 CA383881174 |
23 | K>N | No |
ClinGen gnomAD |
|
|
CA232811138 rs895561791 |
24 | A>G | No |
ClinGen Ensembl |
|
| rs747703868 | 24 | A>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 24 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758642110 CA6444435 |
25 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1364146823 CA383881158 |
26 | G>C | No |
ClinGen gnomAD |
|
|
rs1175621412 CA383881133 |
28 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778195143 CA6444417 |
30 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6444416 rs148551872 COSM1579781 |
32 | S>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6444415 rs753070166 |
33 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA383881091 rs1341938679 |
34 | W>* | No |
ClinGen gnomAD |
|
|
rs755209727 CA6444413 |
34 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA383881087 rs1408756043 |
35 | W>* | No |
ClinGen gnomAD |
|
|
CA6444411 rs199668224 |
35 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs753995695 CA6444412 |
35 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs760694441 CA6444410 |
37 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs750491095 CA6444409 |
40 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383881044 rs1163080524 |
42 | L>P | No |
ClinGen gnomAD |
|
|
rs1458600048 CA383881041 |
43 | G>R | No |
ClinGen gnomAD |
|
|
rs761802764 CA383881034 |
44 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761802764 CA6444407 |
44 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768512963 CA6444405 |
45 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383881030 rs768512963 |
45 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252664148 CA383881024 |
46 | C>R | No |
ClinGen gnomAD |
|
|
rs769549605 CA6444402 |
49 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6444400 rs780750116 |
50 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs201528781 COSM328309 CA6444401 |
50 | V>I | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1342432898 CA383880991 |
51 | V>E | No |
ClinGen gnomAD |
|
|
rs1258526911 CA383880996 |
51 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 53 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1329192290 CA383880983 |
53 | I>V | No |
ClinGen gnomAD |
|
|
CA6444398 rs779258210 |
54 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs772513636 CA6444399 |
54 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs779258210 CA6444397 |
54 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA383880977 rs772513636 |
54 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1287732483 CA383880960 |
57 | G>R | No |
ClinGen TOPMed |
|
|
rs755299237 CA6444396 |
57 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6444395 rs754085626 |
58 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs780301046 CA6444394 |
59 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1401595592 CA383880913 |
62 | Q>* | No |
ClinGen gnomAD |
|
|
rs1049843352 CA232809264 |
67 | L>P | No |
ClinGen TOPMed |
|
|
rs781134192 CA6444373 |
68 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1266244478 CA383880873 |
68 | T>I | No |
ClinGen TOPMed |
|
|
rs1188586191 CA383880871 |
69 | Q>E | No |
ClinGen Ensembl |
|
|
CA6444372 rs757319493 |
70 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs984973463 CA232809249 |
72 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA383880845 rs984973463 |
72 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA383880840 rs1437261724 |
73 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 73 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751563256 CA6444371 |
74 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383880824 rs1249438944 |
76 | H>Y | No |
ClinGen gnomAD |
|
|
CA6444370 rs764168288 |
78 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6444367 TCGA novel rs765026246 |
79 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
rs758406657 CA6444369 |
79 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA383880778 rs1450128955 |
82 | E>D | No |
ClinGen TOPMed |
|
|
rs1196455656 CA383880776 |
83 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs149425676 CA6444366 |
84 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776310061 CA6444365 |
84 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232809223 rs374536619 |
86 | S>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA383880752 rs1272965420 |
87 | A>T | No |
ClinGen gnomAD |
|
|
CA6444364 rs765832794 |
87 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760230693 CA383880746 |
88 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383880744 rs371146790 |
88 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371146790 CA6444362 COSM3772229 |
88 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs760230693 CA6444363 |
88 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749779571 CA6444360 |
92 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6444361 rs769214390 |
92 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6444359 rs139401310 |
93 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770127699 CA6444358 |
94 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 96 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6444355 rs781426287 |
96 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1357403753 CA383880677 |
98 | S>L | No |
ClinGen TOPMed |
|
| TCGA novel | 99 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1189099806 CA383880660 |
101 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA383880659 rs1189099806 |
101 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA232809186 rs1009368070 |
101 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA383880651 rs1273038922 |
102 | L>F | No |
ClinGen gnomAD |
|
|
rs142675845 CA6444351 |
104 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 105 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1274777992 CA383880617 |
106 | I>M | No |
ClinGen TOPMed |
|
|
CA383880618 rs1403128339 |
106 | I>R | No |
ClinGen Ensembl |
|
|
rs758425239 CA6444350 |
111 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs892229108 CA232809175 |
111 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6444347 rs368435897 |
114 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6444346 rs753556915 |
116 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383880525 rs1410377479 |
120 | Q>L | No |
ClinGen gnomAD |
|
|
CA383880514 rs1162478959 |
121 | M>I | No |
ClinGen gnomAD |
|
|
CA383880521 rs1372153845 |
121 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA383880497 rs1404388626 |
124 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA383880467 rs1169295891 |
127 | N>I | No |
ClinGen TOPMed |
|
|
CA383880416 rs1471286934 |
132 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs766092711 CA6444345 |
132 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs555545113 CA6444344 |
135 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749991493 CA383880378 |
136 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6444343 rs749991493 |
136 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232809156 rs1019193521 |
137 | V>A | No |
ClinGen TOPMed |
|
|
CA383880373 rs1425785894 |
137 | V>I | No |
ClinGen TOPMed |
|
|
rs1425785894 CA383880371 |
137 | V>L | No |
ClinGen TOPMed |
|
|
rs1219917086 CA383880358 |
138 | A>E | No |
ClinGen gnomAD |
|
|
CA6444342 rs766952879 |
138 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs765840296 CA6444322 |
142 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA383879339 rs1299024640 |
143 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA383879340 rs1299024640 |
143 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs759947861 CA6444321 |
145 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6444319 rs761012790 |
149 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383879285 rs1432409231 |
151 | H>N | No |
ClinGen gnomAD |
|
|
rs1049112315 CA232806782 |
151 | H>R | No |
ClinGen TOPMed |
|
|
rs1351722170 CA383879278 |
152 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs773520812 CA6444317 |
155 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA6444315 rs372771543 |
158 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778851250 CA6444314 |
159 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs768691963 CA6444313 |
160 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383879210 rs1345856213 |
162 | S>L | No |
ClinGen TOPMed |
|
|
rs1347145798 CA383879198 |
164 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA383879199 rs1347145798 |
164 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs201129982 CA6444311 |
166 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6444308 rs756870922 |
171 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA232806724 rs1050444516 |
173 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6444304 rs754260673 CA6444305 |
176 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282198225 CA383879085 |
179 | L>F | No |
ClinGen gnomAD |
|
|
CA383879086 rs1591979216 |
179 | L>W | No |
ClinGen Ensembl |
|
|
CA383879078 rs766875651 |
181 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766875651 CA6444303 |
181 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383879063 rs1432356994 |
183 | N>D | No |
ClinGen TOPMed |
|
|
rs761172569 CA6444302 |
184 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA6444301 rs773684434 |
186 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1297819608 CA383879042 |
186 | A>P | No |
ClinGen gnomAD |
|
|
CA383879030 rs1385229188 |
188 | L>M | No |
ClinGen TOPMed |
|
|
CA383879000 rs1408563065 |
190 | F>S | No |
ClinGen gnomAD |
|
|
rs140784946 CA6444284 |
191 | I>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1433551142 CA383878985 |
192 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1433551142 CA383878987 |
192 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA383878964 rs1383711004 |
194 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs267603272 CA232806412 |
196 | S>F | No |
ClinGen Ensembl |
|
|
rs762096669 CA6444281 |
197 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1463721021 CA383878945 |
197 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 199 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 202 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6444279 rs764254752 |
204 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs371858766 CA6444280 |
204 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA232806386 rs775516504 |
208 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM180533 rs769789426 CA6444276 |
208 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6444277 rs775516504 |
208 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs373022812 CA6444275 |
209 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1253898313 CA383878837 |
210 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 210 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs186250314 CA6444274 |
212 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383878814 rs1378598511 |
212 | S>R | No |
ClinGen gnomAD |
|
|
CA6444273 rs770593146 |
214 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1264426225 CA383878803 |
214 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1261624919 CA383878795 |
215 | W>R | No |
ClinGen TOPMed |
|
|
CA383878776 rs1448256575 |
217 | W>* | No |
ClinGen TOPMed |
|
|
rs747731348 CA6444270 |
220 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA6444269 rs747731348 |
220 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1393446830 CA383878397 |
221 | S>F | No |
ClinGen gnomAD |
|
|
rs1389033534 CA383878341 |
225 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA383878323 rs1462206660 |
226 | H>Q | No |
ClinGen gnomAD |
|
|
rs1395727020 CA383878326 |
226 | H>R | No |
ClinGen TOPMed |
|
|
rs1434195682 CA383878320 |
227 | L>V | No |
ClinGen TOPMed |
|
|
rs1056125322 CA232806156 |
230 | V>I | No |
ClinGen TOPMed |
|
|
rs199989233 CA6444244 |
231 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199989233 CA383878280 |
231 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA232806155 rs986422401 |
231 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs535180296 CA6444242 |
233 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs778185706 CA6444241 |
234 | V>F | No |
ClinGen ExAC |
|
|
rs763828543 CA6444240 |
235 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA383878257 rs1434673386 |
235 | S>F | No |
ClinGen gnomAD |
|
|
rs1591978712 CA383878232 |
239 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 241 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401481108 CA383878202 |
244 | A>T | No |
ClinGen gnomAD |
|
|
CA232806125 rs1045169061 |
245 | Y>C | No |
ClinGen TOPMed |
|
|
rs374394285 CA6444237 COSM3383975 |
248 | R>* | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs897928133 CA232806120 |
251 | V>L | No |
ClinGen Ensembl |
|
|
CA6444235 rs374494106 |
253 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374494106 CA6444234 |
253 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383878123 rs1184848638 |
255 | N>K | No |
ClinGen gnomAD |
|
|
CA383878128 rs1189764015 |
255 | N>Y | No |
ClinGen TOPMed |
|
|
CA383878119 rs1441345415 |
256 | C>Y | No |
ClinGen gnomAD |
|
|
CA6444232 rs771828476 |
260 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs577739742 CA6444230 |
262 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577739742 CA6444231 |
262 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383878074 rs1477039270 |
263 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA383878045 rs1410024324 |
266 | K>N | No |
ClinGen TOPMed |
|
|
CA6444229 rs143492178 |
267 | K>E | No |
ClinGen ESP ExAC TOPMed |
|
|
rs368924076 CA232806083 |
269 | N>I | No |
ClinGen ESP |
|
|
CA6444228 rs557756840 |
271 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1436152952 CA383878008 |
272 | A>V | No |
ClinGen TOPMed |
|
|
rs1313134582 CA383878007 |
273 | Q>K | No |
ClinGen TOPMed |
|
|
CA383878003 rs1313373404 |
273 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 274 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383877994 rs1340184018 |
274 | Q>W | No |
ClinGen TOPMed |
No associated diseases with P78380
Functions
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| receptor complex | Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
| specific granule membrane | The lipid bilayer surrounding a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase. |
| tertiary granule membrane | The lipid bilayer surrounding a tertiary granule. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| carbohydrate binding | Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates. |
| identical protein binding | Binding to an identical protein or proteins. |
| low-density lipoprotein particle receptor activity | Combining with a low-density lipoprotein particle and delivering the low-density lipoprotein particle into the cell via endocytosis. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| blood circulation | The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products. |
| cell death | Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538). |
| immune system process | Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats. |
| inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| leukocyte cell-cell adhesion | The attachment of a leukocyte to another cell via adhesion molecules. |
| lipoprotein metabolic process | The chemical reactions and pathways involving any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P25031 | Reg3b | Regenerating islet-derived protein 3-beta | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTFDDLKIQT | VKDQPDEKSN | GKKAKGLQFL | YSPWWCLAAA | TLGVLCLGLV | VTIMVLGMQL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SQVSDLLTQE | QANLTHQKKK | LEGQISARQQ | AEEASQESEN | ELKEMIETLA | RKLNEKSKEQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MELHHQNLNL | QETLKRVANC | SAPCPQDWIW | HGENCYLFSS | GSFNWEKSQE | KCLSLDAKLL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KINSTADLDF | IQQAISYSSF | PFWMGLSRRN | PSYPWLWEDG | SPLMPHLFRV | RGAVSQTYPS |
| 250 | 260 | 270 | |||
| GTCAYIQRGA | VYAENCILAA | FSICQKKANL | RAQ |