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

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • May associate with the cytoplasmic side of the plasma membrane and early endosomes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

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.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O75052 NOS1AP Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein Homo sapiens (Human) PR
Q8K2A1 Gulp1 PTB domain-containing engulfment adapter protein 1 Mus musculus (Mouse) PR
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