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

7 structures for O75436

Entry ID Method Resolution Chain Position Source
2FAU X-ray 210 A A 1-327 PDB
5F0J X-ray 270 A B 2-326 PDB
5F0L X-ray 320 A B 1-317 PDB
5F0M X-ray 310 A B 1-321 PDB
5F0P X-ray 278 A B 1-321 PDB
7BLO EM 950 A F/J 8-301 PDB
AF-O75436-F1 Predicted AlphaFoldDB

185 variants for O75436

Variant ID(s) Position Change Description Diseaes Association Provenance
CA376893979
rs1589345013
3 F>V No ClinGen
Ensembl
rs1301071638
CA376893988
4 L>V No ClinGen
gnomAD
CA376894011
rs1465377629
6 G>D No ClinGen
TOPMed
CA376894045
rs1307810851
8 F>L No ClinGen
gnomAD
CA5530143
rs749526946
10 P>T No ClinGen
ExAC
gnomAD
CA5530145
rs774573506
11 I>T No ClinGen
ExAC
gnomAD
rs377001222
CA5530144
11 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764160350
CA5530147
15 D>G No ClinGen
ExAC
gnomAD
rs1253070221
CA376894161
15 D>N No ClinGen
gnomAD
rs761790872
CA5530149
16 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA5530148
rs369058494
16 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA376894190
rs1245431319
16 I>V No ClinGen
gnomAD
CA5530150
rs765001100
18 L>P No ClinGen
ExAC
gnomAD
CA376894273
rs1455830020
20 D>V No ClinGen
gnomAD
rs762518958
CA5530152
25 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1196378145
CA376894411
26 M>V No ClinGen
TOPMed
rs1337418243
CA376894494
29 M>V No ClinGen
TOPMed
gnomAD
rs1258452194
CA376894526
30 K>E No ClinGen
TOPMed
rs756506511
CA209199723
33 D>G No ClinGen
Ensembl
CA5530154
rs551583478
35 K>R No ClinGen
1000Genomes
ExAC
gnomAD
CA209199727
rs966829298
36 V>I No ClinGen
TOPMed
gnomAD
rs1234748450
CA376894664
37 E>K No ClinGen
gnomAD
rs1211225357
CA376894719
39 H>P No ClinGen
TOPMed
gnomAD
CA5530155
rs754443768
39 H>Y No ClinGen
ExAC
gnomAD
rs1252090102
CA376894734
40 Y>N No ClinGen
gnomAD
CA5530156
rs531340970
40 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA376894763
rs1266095956
41 L>F No ClinGen
TOPMed
gnomAD
CA376894761
rs1266095956
41 L>V No ClinGen
TOPMed
gnomAD
CA5530157
rs753248739
42 F>V No ClinGen
ExAC
gnomAD
rs778064238
CA5530159
43 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs756626968
CA5530158
43 Y>H No ClinGen
ExAC
gnomAD
COSM427816
rs1461148219
CA376894845
45 G>R Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA5530162
rs779238987
48 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA5530163
rs746061052
49 S>A No ClinGen
ExAC
TOPMed
gnomAD
CA5530182
rs772420433
52 V>G No ClinGen
ExAC
gnomAD
rs780285465
CA5530183
CA376900103
53 N>K No ClinGen
ExAC
gnomAD
rs1250967855
CA376900108
54 L>V No ClinGen
gnomAD
CA5530184
rs377072735
55 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5530185
rs769643163
56 F>V No ClinGen
ExAC
gnomAD
rs949166466
CA209202806
57 K>E No ClinGen
Ensembl
rs773159591
CA5530186
57 K>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 58 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1461673696
CA376900302
64 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA376900330
rs1163548816
65 H>N No ClinGen
gnomAD
CA5530187
rs762767775
67 G>R No ClinGen
ExAC
gnomAD
rs1456830993
CA376900465
70 I>F No ClinGen
gnomAD
TCGA novel 72 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA376900542
rs1303309822
73 V>I No ClinGen
TOPMed
CA5530188
rs770760473
75 Q>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 76 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA376900768
rs1170554878
77 E>G No ClinGen
gnomAD
rs1355579428
CA376900786
78 L>P No ClinGen
gnomAD
rs1429715760
CA376900792
79 F>L No ClinGen
gnomAD
CA5530197
rs757829843
80 N>S No ClinGen
ExAC
rs765764274
CA5530198
85 T>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 85 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs370434579
CA5530200
88 F>Y No ClinGen
ESP
ExAC
gnomAD
CA5530201
rs780375401
90 N>S No ClinGen
ExAC
gnomAD
rs1003466774
CA209202960
92 V>M No ClinGen
Ensembl
CA5530202
rs747087916
93 K>E No ClinGen
ExAC
gnomAD
rs1033563897
CA209202963
93 K>T No ClinGen
Ensembl
CA376901158
rs1445877800
99 G>V No ClinGen
gnomAD
rs959249968
CA209202966
101 L>M No ClinGen
Ensembl
CA5530204
rs570302033
102 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5530203
rs755123253
102 T>P No ClinGen
ExAC
gnomAD
CA376901186
rs755123253
102 T>S No ClinGen
ExAC
gnomAD
CA5530206
rs749304996
104 S>G No ClinGen
ExAC
gnomAD
CA5530207
rs200895265
104 S>T No ClinGen
ESP
ExAC
gnomAD
rs538754101
CA5530208
108 D>G No ClinGen
1000Genomes
ExAC
gnomAD
CA376901275
rs538754101
108 D>V No ClinGen
1000Genomes
ExAC
gnomAD
CA376901344
rs1424592061
112 M>I No ClinGen
TOPMed
CA376901338
rs991869628
112 M>K No ClinGen
TOPMed
rs991869628
CA209202974
112 M>T No ClinGen
TOPMed
rs745601645
CA5530209
112 M>V No ClinGen
ExAC
gnomAD
rs771731408
CA5530210
114 V>A No ClinGen
ExAC
gnomAD
rs1186559540
CA376901367
114 V>I No ClinGen
gnomAD
TCGA novel 115 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775250912
CA5530211
117 P>L No ClinGen
ExAC
gnomAD
rs1236643139
CA376901432
119 E>K No ClinGen
TOPMed
CA376901446
rs920379499
120 S>P No ClinGen
gnomAD
rs920379499
CA209202978
120 S>T No ClinGen
gnomAD
rs139473850
CA5530216
122 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758798075
CA376902746
123 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs758798075
CA5530218
123 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs141829214
CA5530220
125 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs141829214
CA376902779
125 N>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM337223
rs755142402
CA5530221
127 R>C lung Variant assessed as Somatic; 4.643e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5530222
rs146283722
127 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA376902805
rs755142402
127 R>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 132 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA376903025
rs1333163304
133 K>I No ClinGen
TOPMed
CA5530241
rs11552064
134 V>L No ClinGen
ExAC
gnomAD
rs11552064
CA209203143
134 V>M No ClinGen
ExAC
gnomAD
rs1267035519
CA376903078
136 I>M No ClinGen
gnomAD
CA5530242
rs766824852
136 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1415970021
CA376903161
141 T>I No ClinGen
TOPMed
CA5530243
rs751865858
143 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA376903258
rs1273313939
145 K>E No ClinGen
gnomAD
CA209203153
rs939408231
146 E>A No ClinGen
TOPMed
gnomAD
rs939408231
CA209203154
146 E>G No ClinGen
TOPMed
gnomAD
rs767573724
CA5530245
150 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA5530247
rs756143729
152 H>R No ClinGen
ExAC
gnomAD
rs1221613496
CA376903550
158 P>L No ClinGen
gnomAD
CA209203159
rs761116648
158 P>S No ClinGen
ExAC
gnomAD
CA5530248
rs761116648
158 P>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA209203163
rs930625934
160 V>I No ClinGen
gnomAD
rs750421403
CA5530249
162 N>S No ClinGen
ExAC
gnomAD
rs1167161130
CA376903711
164 I>V No ClinGen
TOPMed
gnomAD
rs1391615701
CA376903898
170 I>V No ClinGen
gnomAD
rs758267772
CA5530250
173 C>F No ClinGen
ExAC
TOPMed
gnomAD
CA5530252
rs746723931
176 I>T No ClinGen
ExAC
gnomAD
rs1293359768
CA376904375
183 S>* No ClinGen
gnomAD
rs886334051
CA209203169
184 K>T No ClinGen
Ensembl
TCGA novel 190 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA209203898
rs903531427
204 I>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5530270
rs779807557
206 H>Y No ClinGen
ExAC
gnomAD
rs751402642
CA5530271
207 M>T No ClinGen
ExAC
gnomAD
CA376904990
rs1241932737
207 M>V No ClinGen
gnomAD
CA209203902
rs535991806
212 I>M No ClinGen
Ensembl
CA5530274
rs747866317
213 K>Q No ClinGen
ExAC
gnomAD
rs1482238753
CA376905141
213 K>R No ClinGen
gnomAD
CA5530276
rs777425474
219 I>T No ClinGen
ExAC
gnomAD
CA376905908
rs1199482638
221 P>S No ClinGen
Ensembl
CA376905917
rs1188025822
222 S>N No ClinGen
gnomAD
CA376905925
rs1415122948
223 T>I No ClinGen
TOPMed
CA376905929
rs1564687946
224 T>I No ClinGen
Ensembl
rs754928740
CA5530292
230 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA5530293
rs200224687
231 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1464224286
CA376906036
239 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs890031204
CA209204488
240 P>A No ClinGen
TOPMed
TCGA novel 241 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5530315
rs763949492
244 E>D No ClinGen
ExAC
gnomAD
rs1472083039
CA376906101
248 I>V No ClinGen
TOPMed
gnomAD
TCGA novel 249 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 252 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs139296312
CA209204894
256 D>E No ClinGen
ESP
TOPMed
CA376906158
rs1180203433
256 D>G No ClinGen
gnomAD
CA376906154
rs1396111916
256 D>N No ClinGen
gnomAD
CA5530317
rs756932420
262 R>G No ClinGen
ExAC
gnomAD
rs1294566979
CA376906195
262 R>K No ClinGen
TOPMed
gnomAD
CA376906200
rs1390666347
263 D>N No ClinGen
gnomAD
rs778293181
CA5530318
265 N>T No ClinGen
ExAC
gnomAD
TCGA novel 267 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745327075
CA5530319
271 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA5530320
rs758927563
273 F>L No ClinGen
ExAC
gnomAD
TCGA novel 274 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA209204900
rs202140781
274 L>F No ClinGen
Ensembl
rs1209685299
CA376906293
276 L>V No ClinGen
TOPMed
TCGA novel 277 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780503376
CA5530321
279 V>A No ClinGen
ExAC
gnomAD
rs1286524259
CA376906324
281 E>K No ClinGen
gnomAD
CA209204904
rs930937771
283 D>N No ClinGen
TOPMed
rs372476544
CA5530323
284 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA376906368
rs1472930362
285 R>K No ClinGen
gnomAD
CA5530340
rs752120668
292 I>R No ClinGen
ExAC
CA376906826
rs1380901915
292 I>V No ClinGen
TOPMed
rs1422574293
CA376906859
295 W>R No ClinGen
gnomAD
rs1170955052
CA376906874
296 R>K No ClinGen
gnomAD
CA376906887
rs1336432413
297 K>* No ClinGen
TOPMed
CA5530341
rs755470681
298 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1429457228
CA376906905
298 A>V No ClinGen
TOPMed
gnomAD
TCGA novel 301 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1564690165
CA376907002
306 R>I No ClinGen
Ensembl
rs1275817167
CA376907005
306 R>S No ClinGen
TOPMed
gnomAD
CA5530344
rs61750775
308 N>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs202188193
CA209205343
309 F>S No ClinGen
Ensembl
rs769927610
CA5530345
309 F>V No ClinGen
ExAC
gnomAD
CA5530346
rs778015981
311 Q>* No ClinGen
ExAC
gnomAD
CA209205344
COSM919864
rs552011189
312 R>* Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
NCI-TCGA
TOPMed
rs749489086
CA5530348
312 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA376907089
rs1312391462
314 E>Q No ClinGen
TOPMed
gnomAD
CA376907102
rs1209065643
315 S>P No ClinGen
TOPMed
gnomAD
CA376907126
rs1465812106
317 E>G No ClinGen
gnomAD
TCGA novel 317 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA376907143
rs1446470625
319 Q>K No ClinGen
TOPMed
CA376907151
rs1483650289
319 Q>R No ClinGen
gnomAD
rs1221924576
CA376907165
320 A>P No ClinGen
TOPMed
gnomAD
rs774557106
CA5530350
321 S>F No ClinGen
ExAC
gnomAD
rs760694189
CA5530351
322 A>T No ClinGen
ExAC
gnomAD
rs776313365
CA376907193
323 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA5530353
rs776313365
323 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1415251215
CA376907202
324 Q>* No ClinGen
gnomAD
rs1357659788
CA376907229
326 E>K No ClinGen
TOPMed
gnomAD
CA376907231
rs1357659788
326 E>Q No ClinGen
TOPMed
gnomAD
rs140007940
COSM1348770
CA5530355
327 M>I Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD

No associated diseases with O75436

No regional properties for O75436

Type Name Position InterPro Accession
No domain, repeats, and functional sites for O75436

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Endosome membrane ; Peripheral membrane protein
  • Early endosome
  • Localizes to tubular profiles adjacent to endosomes (PubMed:15078903)
  • Predominantly found in early not late endosomes (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

9 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
early endosome A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
endosome A vacuole to which materials ingested by endocytosis are delivered.
endosome membrane The lipid bilayer surrounding an endosome.
lysosome A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.
retromer complex A conserved hetero-pentameric membrane-associated complex involved in retrograde transport from endosomes to the Golgi apparatus. The budding yeast retromer comprises Vps35p, Vps29p, Vps26p, Vps5p, and Vps17p. The mammalian complex shows slight variation in composition compared to yeast, and comprises SNX1 or SNX2, SNX5 or SNX6, VPS26A or VPS26B, VPS29, and VPS35.
retromer, cargo-selective complex The trimeric subcomplex of the retromer, believed to be closely associated with the membrane. This trimeric complex is responsible for recognizing and binding to cargo molecules. The complex comprises three Vps proteins in both yeast and mammalian cells: Vps35p, Vps29p, and Vps26p in yeast, and VPS35, VPS29 and VPS26A or VPS26B in mammals.
tubular endosome A network of fine tubules in the vicinity of the Golgi complex and around the centriole.
vesicle Any small, fluid-filled, spherical organelle enclosed by membrane.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

4 GO annotations of biological process

Name Definition
endocytic recycling The directed movement of membrane-bounded vesicles from endosomes back to the plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins.
intracellular protein transport The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.
regulation of macroautophagy Any process that modulates the frequency, rate or extent of macroautophagy.
retrograde transport, endosome to Golgi The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport.

10 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q0VD53 VPS26A Vacuolar protein sorting-associated protein 26A Bos taurus (Bovine) PR
Q4G0F5 VPS26B Vacuolar protein sorting-associated protein 26B Homo sapiens (Human) PR
Q8C0E2 Vps26b Vacuolar protein sorting-associated protein 26B Mus musculus (Mouse) PR
P40336 Vps26a Vacuolar protein sorting-associated protein 26A Mus musculus (Mouse) PR
Q6AY86 Vps26a Vacuolar protein sorting-associated protein 26A Rattus norvegicus (Rat) PR
O01258 vps-26 Vacuolar protein sorting-associated protein 26 Caenorhabditis elegans PR
Q5BKM4 vps26b Vacuolar protein sorting-associated protein 26B Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q28HT6 vps26a Vacuolar protein sorting-associated protein 26A Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q6DH23 vps26bl Vacuolar protein sorting-associated protein 26B-like Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q6TNP8 vps26a Vacuolar protein sorting-associated protein 26A Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MSFLGGFFGP ICEIDIVLND GETRKMAEMK TEDGKVEKHY LFYDGESVSG KVNLAFKQPG
70 80 90 100 110 120
KRLEHQGIRI EFVGQIELFN DKSNTHEFVN LVKELALPGE LTQSRSYDFE FMQVEKPYES
130 140 150 160 170 180
YIGANVRLRY FLKVTIVRRL TDLVKEYDLI VHQLATYPDV NNSIKMEVGI EDCLHIEFEY
190 200 210 220 230 240
NKSKYHLKDV IVGKIYFLLV RIKIQHMELQ LIKKEITGIG PSTTTETETI AKYEIMDGAP
250 260 270 280 290 300
VKGESIPIRL FLAGYDPTPT MRDVNKKFSV RYFLNLVLVD EEDRRYFKQQ EIILWRKAPE
310 320
KLRKQRTNFH QRFESPESQA SAEQPEM