Q9UBP9
Gene name |
GULP1 (CED6, GULP) |
Protein name |
PTB domain-containing engulfment adapter protein 1 |
Names |
Cell death protein 6 homolog, PTB domain adapter protein CED-6, Protein GULP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51454 |
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
2 structures for Q9UBP9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6ITU | X-ray | 217 A | A | 1-168 | PDB |
| AF-Q9UBP9-F1 | Predicted | AlphaFoldDB |
212 variants for Q9UBP9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1253922 rs781725363 CA2021295 |
2 | N>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs753137025 CA2021296 |
3 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756509880 CA2021297 |
3 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753137025 CA349983601 |
3 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2021298 rs778143176 |
4 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 6 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA62089106 rs749465498 |
8 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1388779345 CA349983677 |
12 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1383447649 CA349983678 |
12 | T>K | No |
ClinGen gnomAD |
|
|
rs746937734 CA2021323 |
13 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3787955 rs1325503305 COSM3787956 CA349983695 |
14 | M>I | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA349983702 rs1367876483 |
15 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2021324 rs768506343 |
16 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs545140276 CA2021325 |
17 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs560393029 CA2021326 |
19 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1162613533 CA349983728 |
19 | A>V | No |
ClinGen TOPMed |
|
|
CA2021327 rs769511591 |
24 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349983761 rs1412103502 |
24 | F>Y | No |
ClinGen TOPMed |
|
|
CA2021329 rs762560085 |
25 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs896628200 CA62089696 |
25 | I>V | No |
ClinGen TOPMed |
|
|
CA62089697 rs867691291 |
26 | P>L | No |
ClinGen gnomAD |
|
|
CA349983773 rs867691291 |
26 | P>R | No |
ClinGen gnomAD |
|
|
rs765927248 CA2021330 |
26 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1446644508 CA349983778 |
27 | Y>C | No |
ClinGen gnomAD |
|
|
rs1244346336 CA349984712 |
31 | F>L | No |
ClinGen TOPMed |
|
|
CA62093920 rs78429023 |
35 | T>K | No |
ClinGen Ensembl |
|
|
CA2021345 rs769411572 |
40 | P>R | No |
ClinGen ExAC |
|
|
rs748010283 CA2021344 |
40 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs748010283 CA349984843 |
40 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 42 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 43 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 43 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA62093922 rs902142227 |
50 | V>I | No |
ClinGen Ensembl |
|
|
rs1433188586 CA538062463 |
53 | L>IC* | No |
ClinGen gnomAD |
|
| TCGA novel | 57 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA62859199 rs368832671 |
57 | R>T | No |
ClinGen Ensembl |
|
|
CA349985254 rs1305803984 |
58 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 59 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 59 | I>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1335367315 CA349985266 |
60 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 60 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297981618 CA349985284 |
62 | S>C | No |
ClinGen TOPMed |
|
|
rs1233908700 CA349985295 |
64 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 66 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371480920 CA62859200 |
67 | I>V | No |
ClinGen Ensembl |
|
|
rs1308997285 CA349985334 |
69 | K>N | No |
ClinGen gnomAD |
|
|
CA2021369 rs778658447 |
69 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2021370 rs745413094 CA349985337 |
70 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2021371 rs771414895 |
72 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA62859207 rs529691749 |
73 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1164275369 CA349985358 |
73 | Q>R | No |
ClinGen TOPMed |
|
|
rs1468866472 CA349985363 |
74 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 76 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2021372 rs777255415 |
76 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 78 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1250664724 CA349985397 |
79 | V>L | No |
ClinGen gnomAD |
|
|
CA62859212 rs1004068113 |
82 | L>I | No |
ClinGen TOPMed |
|
|
CA62859224 rs1016783522 |
83 | E>K | No |
ClinGen TOPMed |
|
|
rs376744592 CA2021374 |
84 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1559346330 CA349985432 |
85 | K>Q | No |
ClinGen Ensembl |
|
|
CA62859231 rs962366974 |
86 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 86 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349985442 rs1168781199 |
86 | T>K | No |
ClinGen gnomAD |
|
|
CA349983021 rs1416411281 |
88 | E>G | No |
ClinGen gnomAD |
|
|
CA2021399 rs759670044 |
89 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA349983032 rs1371091574 |
90 | Q>E | No |
ClinGen TOPMed |
|
|
rs1334073023 CA349983047 |
92 | N>D | No |
ClinGen gnomAD |
|
|
rs1285810824 CA349983067 |
94 | Q>R | No |
ClinGen gnomAD |
|
|
CA62866391 rs369711209 |
96 | H>R | No |
ClinGen ESP TOPMed |
|
|
rs1214683641 CA349983084 |
97 | R>G | No |
ClinGen gnomAD |
|
|
CA2021401 rs752693650 |
98 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760755483 CA2021402 |
98 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA349983091 rs752693650 |
98 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764157949 CA2021403 |
99 | S>Y | No |
ClinGen ExAC |
|
| TCGA novel | 101 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349983127 rs1429612206 |
103 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 104 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349983180 rs1273124741 |
110 | I>T | No |
ClinGen TOPMed |
|
|
rs757130717 CA2021406 |
113 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA349983205 rs1215627084 |
114 | I>V | No |
ClinGen TOPMed |
|
|
rs778848433 CA2021408 |
119 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA349983254 rs1410325772 |
121 | N>D | No |
ClinGen gnomAD |
|
|
rs1559359596 CA349983273 |
123 | H>P | No |
ClinGen Ensembl |
|
|
rs545876707 CA2021412 |
124 | L>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754423055 CA2021413 |
125 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1310915614 CA349983292 |
126 | Y>H | No |
ClinGen gnomAD |
|
|
rs1354724821 CA349983305 |
128 | F>I | No |
ClinGen gnomAD |
|
|
rs749785708 CA2021416 |
131 | E>K | No |
ClinGen ExAC gnomAD |
|
|
COSM3719463 CA349983343 rs199619350 COSM3719462 CA349983342 |
132 | K>N | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA2021417 rs200494157 |
133 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755577046 CA2021457 |
134 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA349983843 rs1224118515 |
137 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 138 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868860576 CA62878534 |
138 | T>N | No |
ClinGen Ensembl |
|
|
CA349983847 rs868860576 |
138 | T>S | No |
ClinGen Ensembl |
|
|
CA2021458 rs779291465 |
140 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA2021459 rs750884700 |
141 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA349983870 rs1357922096 |
142 | G>D | No |
ClinGen gnomAD |
|
|
CA2021460 rs758746005 |
143 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1264999716 CA349983880 |
144 | A>T | No |
ClinGen gnomAD |
|
|
rs747284653 CA2021463 |
147 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282464649 CA349983915 |
149 | Y>C | No |
ClinGen gnomAD |
|
|
rs898655714 CA62878546 |
149 | Y>N | No |
ClinGen Ensembl |
|
|
rs769024034 CA2021464 |
150 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA349983922 rs1559389395 |
150 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 150 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781524191 CA2021465 |
151 | K>R | No |
ClinGen ExAC |
|
|
CA349983955 rs1337065231 |
155 | S>A | No |
ClinGen TOPMed |
|
| TCGA novel | 157 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259520962 CA349983976 |
158 | K>N | No |
ClinGen gnomAD |
|
|
CA2021466 rs377130007 |
158 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs769857935 CA2021467 |
159 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1356983622 CA349984002 |
162 | T>K | No |
ClinGen TOPMed |
|
| TCGA novel | 162 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369004912 CA349984036 |
167 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369004912 CA2021470 |
167 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs199688027 CA349984057 |
170 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199688027 CA2021472 |
170 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 172 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA62878559 rs947271518 |
172 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs771796407 CA2021494 |
174 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329454926 CA349984103 |
175 | D>G | No |
ClinGen gnomAD |
|
|
CA2021495 rs775180915 |
176 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763552013 CA2021498 |
178 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs753411759 CA2021499 |
181 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA2021500 rs761188427 |
182 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1196196734 CA349984159 |
183 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA349984158 rs1196196734 |
183 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2021504 rs755455550 |
188 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767992135 CA2021505 |
191 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2021507 rs756340887 |
192 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs752906524 CA2021506 |
192 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA2021508 rs777805792 |
194 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 198 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2021509 rs143831338 CA2021510 |
199 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1329358593 CA349984283 |
201 | A>V | No |
ClinGen gnomAD |
|
|
CA349984287 rs778832408 |
202 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs778832408 CA2021511 |
202 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs778832408 CA2021512 |
202 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA2021513 rs771919175 |
203 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199588499 CA2021555 |
204 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777660706 CA62881949 |
206 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA349984339 rs1326081912 |
208 | T>I | No |
ClinGen gnomAD |
|
|
CA2021556 rs140726527 |
209 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2021557 rs769596572 |
210 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349984351 rs1273505815 |
210 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs777523077 CA2021558 |
211 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1172109190 CA349984364 |
213 | S>P | No |
ClinGen TOPMed |
|
|
CA349984375 rs1316074402 |
215 | D>N | No |
ClinGen gnomAD |
|
|
CA2021563 rs769102592 |
216 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA2021562 rs377675952 |
216 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749394031 CA62881957 |
217 | F>C | No |
ClinGen Ensembl |
|
|
CA2021565 rs762115675 |
218 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349984407 rs1245961051 |
219 | M>I | No |
ClinGen gnomAD |
|
|
CA62881960 rs970844612 |
219 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs765450501 CA2021566 |
224 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs750586464 CA2021567 |
225 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2021568 rs763080098 |
226 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766366275 CA2021569 |
227 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751559772 CA2021570 |
227 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2021571 rs537795313 |
230 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2021573 rs752574797 |
231 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA349984486 rs1469663693 |
232 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2021574 rs755902053 |
233 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2021575 rs777577897 |
234 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2021576 rs748933734 |
234 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1339172128 CA349984501 |
235 | N>H | No |
ClinGen gnomAD |
|
|
CA349984520 rs1218089102 |
237 | T>I | No |
ClinGen gnomAD |
|
|
CA2021577 rs770538489 |
238 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA349984536 rs1559407077 |
240 | P>S | No |
ClinGen Ensembl |
|
|
CA2021579 rs573288972 |
243 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA349984555 rs573288972 |
243 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2021580 rs769066173 |
244 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2021581 rs777082278 |
247 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs762180852 CA2021582 |
249 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs374054537 CA2021592 |
251 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2021591 rs752619717 |
251 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA2021593 rs763974062 |
254 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1294313101 CA349984662 |
258 | P>H | No |
ClinGen TOPMed |
|
|
CA349984664 rs1294313101 |
258 | P>L | No |
ClinGen TOPMed |
|
|
CA349984668 rs1559411043 |
259 | F>S | No |
ClinGen Ensembl |
|
|
rs753583830 CA2021594 |
260 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs367867124 CA2021595 |
262 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
CA2021596 rs778578131 |
263 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA349984709 rs1211462194 |
264 | C>G | No |
ClinGen gnomAD |
|
|
CA349984711 rs1457660047 |
264 | C>Y | No |
ClinGen TOPMed |
|
|
rs757867674 CA2021598 |
266 | A>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 267 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 267 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156737527 CA349984756 |
268 | D>N | No |
ClinGen TOPMed |
|
|
CA2021601 rs770185986 |
270 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441209488 COSM3938844 CA349984795 |
271 | P>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1160801254 CA349984832 |
274 | Q>E | No |
ClinGen gnomAD |
|
|
rs568767997 CA2021602 |
274 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868325910 CA62882622 |
278 | D>A | No |
ClinGen Ensembl |
|
|
CA2021603 rs200640424 |
279 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2021640 rs779302524 |
283 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 284 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1159546001 CA349985078 |
285 | K>Q | No |
ClinGen TOPMed |
|
|
CA349985131 rs1247898802 |
291 | E>D | No |
ClinGen TOPMed |
|
|
rs375311420 CA62883626 |
292 | G>D | No |
ClinGen ESP TOPMed |
|
|
rs780381570 CA2021643 |
294 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2021644 rs549477962 |
295 | F>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2021646 rs369009419 |
298 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs761780319 CA2021647 |
299 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2021649 rs773083770 |
303 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA349985205 rs181641969 |
303 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2021651 rs181641969 |
303 | R>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs954112473 CA62883632 |
303 | R>S | No |
ClinGen Ensembl |
|
|
rs181641969 CA2021650 |
303 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751158905 CA2021652 |
304 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9UBP9
1 regional properties for Q9UBP9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | PTB/PI domain | 22 - 158 | IPR006020 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| lipid transport | The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. |
| phagocytosis, engulfment | The internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis, including the membrane and cytoskeletal processes required, which involves one of three mechanisms: zippering of pseudopods around a target via repeated receptor-ligand interactions, sinking of the target directly into plasma membrane of the phagocytosing cell, or induced uptake via an enhanced membrane ruffling of the phagocytosing cell similar to macropinocytosis. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNRAFSRKKD | KTWMHTPEAL | SKHFIPYNAK | FLGSTEVEQP | KGTEVVRDAV | RKLKFARHIK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KSEGQKIPKV | ELQISIYGVK | ILEPKTKEVQ | HNCQLHRISF | CADDKTDKRI | FTFICKDSES |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NKHLCYVFDS | EKCAEEITLT | IGQAFDLAYR | KFLESGGKDV | ETRKQIAGLQ | KRIQDLETEN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MELKNKVQDL | ENQLRITQVS | APPAGSMTPK | SPSTDIFDMI | PFSPISHQSS | MPTRNGTQPP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PVPSRSTEIK | RDLFGAEPFD | PFNCGAADFP | PDIQSKLDEM | QEGFKMGLTL | EGTVFCLDPL |
| DSRC |