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

1 structures for Q8IZP1

Entry ID Method Resolution Chain Position Source
AF-Q8IZP1-F1 Predicted AlphaFoldDB

170 variants for Q8IZP1

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1404463730
CA398775059
7 A>T No ClinGen
gnomAD
CA398774882
rs1240014374
29 G>V No ClinGen
Ensembl
CA398774825
rs1555551619
38 P>A No ClinGen
Ensembl
rs1555551618
CA398774761
47 D>N No ClinGen
Ensembl
rs1189861388
CA398774750
48 H>R No ClinGen
gnomAD
rs1477756907
CA398774641
63 R>Q No ClinGen
gnomAD
rs1555551589
CA398774642
63 R>W No ClinGen
Ensembl
rs1555551588
CA398774625
65 A>V No ClinGen
Ensembl
rs1555551574
CA398774555
74 R>* No ClinGen
Ensembl
rs1379891827
CA398774478
84 D>E No ClinGen
gnomAD
rs1237641505
CA398774369
97 R>Q No ClinGen
gnomAD
rs1397272498
CA398774295
107 R>Q No ClinGen
gnomAD
rs1336912298
CA398774298
107 R>W No ClinGen
gnomAD
CA398774291
rs1399361262
108 G>D No ClinGen
Ensembl
CA398774283
rs1399425598
109 P>L No ClinGen
gnomAD
CA398774247
rs1301659483
114 L>H No ClinGen
gnomAD
CA398774228
rs1567682697
117 T>I No ClinGen
Ensembl
CA398774189
rs1598931276
122 L>F No ClinGen
Ensembl
rs1555551557
CA398774191
122 L>W No ClinGen
Ensembl
rs1160846265
CA398774145
129 Q>K No ClinGen
gnomAD
CA398774069
rs1349057727
137 R>K No ClinGen
Ensembl
CA398774023
rs1425697727
143 Q>H No ClinGen
gnomAD
rs1254141043
CA398774021
144 R>C No ClinGen
gnomAD
rs1199838317
CA398774018
144 R>H No ClinGen
gnomAD
rs1199838317
CA398774016
144 R>L No ClinGen
gnomAD
rs1488592133
CA398774008
146 D>N No ClinGen
gnomAD
CA398773996
rs1288012542
147 R>L No ClinGen
gnomAD
CA398773998
rs1288012542
147 R>Q No ClinGen
gnomAD
CA398773999
rs1555551542
147 R>W No ClinGen
Ensembl
rs1247314319
CA398773987
149 V>I No ClinGen
gnomAD
rs1352626489
CA398773971
151 G>R No ClinGen
gnomAD
CA398773915
rs1338234763
159 F>I No ClinGen
gnomAD
CA398773840
rs1201295114
168 R>W No ClinGen
TOPMed
gnomAD
CA398773820
rs1445425810
171 L>F No ClinGen
gnomAD
rs1262284602
CA398773814
172 H>Y No ClinGen
gnomAD
CA398773807
rs1260960835
173 I>V No ClinGen
TOPMed
CA398773787
rs1355822089
176 A>E No ClinGen
gnomAD
rs1278148202
CA398773780
177 Y>C No ClinGen
gnomAD
CA398773774
rs1218527819
178 E>* No ClinGen
gnomAD
CA398773771
rs1345131113
178 E>A No ClinGen
gnomAD
rs1276041886
CA398773760
180 Y>N No ClinGen
gnomAD
CA398773739
rs1339430478
182 P>L No ClinGen
TOPMed
gnomAD
rs1339430478
CA398773741
182 P>Q No ClinGen
TOPMed
gnomAD
CA398773696
rs1450054717
187 C>G No ClinGen
TOPMed
CA398773660
rs1264438414
192 H>Y No ClinGen
gnomAD
CA398773647
rs1199011684
194 A>T No ClinGen
TOPMed
CA398773605
rs1480648980
200 Y>C No ClinGen
TOPMed
CA398773598
rs1178419593
201 L>F No ClinGen
TOPMed
CA398773580
rs1555551425
204 E>K No ClinGen
Ensembl
CA398773376
rs1555551408
232 V>I No ClinGen
Ensembl
rs1555551407
CA398773360
234 G>W No ClinGen
Ensembl
CA398773299
rs1555551405
242 V>E No ClinGen
Ensembl
rs1442932402
CA398773086
271 R>Q No ClinGen
gnomAD
CA398773087
rs1209342478
271 R>W No ClinGen
gnomAD
rs1555551393
CA398773053
276 G>R No ClinGen
Ensembl
CA398773025
rs1360235271
278 S>C No ClinGen
gnomAD
CA398773024
rs1360235271
278 S>F No ClinGen
gnomAD
rs1336295071
CA398773022
279 L>V No ClinGen
gnomAD
rs1598930587
CA398773017
280 G>R No ClinGen
Ensembl
rs1171674550
CA398773009
281 L>F No ClinGen
gnomAD
rs1478888982
CA398773008
281 L>H No ClinGen
gnomAD
rs1171674550
CA398773010
281 L>V No ClinGen
gnomAD
rs1473114318
CA398772992
284 R>C No ClinGen
gnomAD
rs1239098108
CA398772991
284 R>H No ClinGen
gnomAD
rs1473114318
CA398772994
284 R>S No ClinGen
gnomAD
rs1258076635
CA398772977
286 W>* No ClinGen
gnomAD
rs1228082728
CA398772963
288 V>A No ClinGen
gnomAD
rs764562204
CA398772965
288 V>L No ClinGen
ExAC
gnomAD
CA290268646
rs764562204
288 V>M No ClinGen
ExAC
gnomAD
rs1388863846
CA398772954
289 Y>* No ClinGen
gnomAD
rs1162819175
CA398772950
290 L>P No ClinGen
gnomAD
rs1425853885
CA398772930
293 G>D No ClinGen
gnomAD
CA398772933
rs1286492327
293 G>R No ClinGen
gnomAD
CA290268641
rs762506156
294 E>K No ClinGen
ExAC
gnomAD
rs762506156
CA398772928
294 E>Q No ClinGen
ExAC
gnomAD
CA398772919
rs1467433694
295 Q>* No ClinGen
gnomAD
CA398772920
rs1467433694
295 Q>E No ClinGen
gnomAD
rs1348339886
CA398772917
295 Q>R No ClinGen
gnomAD
rs1247164727
CA398772913
296 A>T No ClinGen
gnomAD
rs752196308
CA290268634
296 A>V No ClinGen
ExAC
gnomAD
CA398772908
rs764871158
297 L>V No ClinGen
ExAC
gnomAD
rs1176715124
CA398772891
299 P>A No ClinGen
gnomAD
rs1438935055
CA398772887
299 P>L No ClinGen
gnomAD
rs1176715124
CA398772892
299 P>S No ClinGen
gnomAD
rs1179953319
CA398772881
300 I>R No ClinGen
gnomAD
rs1487327884
CA398772875
301 T>I No ClinGen
gnomAD
rs1322713781
CA398772864
303 I>T No ClinGen
gnomAD
rs570001833
CA290268628
303 I>V No ClinGen
1000Genomes
gnomAD
CA290268625
rs759166359
304 A>T No ClinGen
ExAC
gnomAD
CA398772839
rs1310140228
307 V>I No ClinGen
gnomAD
rs764674344
CA290268483
310 K>R No ClinGen
ExAC
gnomAD
CA398772802
rs764674344
310 K>T No ClinGen
ExAC
gnomAD
rs759138166
CA290268480
311 R>C No ClinGen
ExAC
gnomAD
rs753580401
CA290268473
311 R>H No ClinGen
ExAC
gnomAD
CA290268465
rs765938439
313 T>A No ClinGen
ExAC
gnomAD
CA290268461
rs760588777
313 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs760588777
CA398772785
313 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs1195762221
CA398772777
314 K>N No ClinGen
gnomAD
rs772151485
CA290268458
315 T>M No ClinGen
ExAC
gnomAD
rs769957741
CA290268455
316 S>F No ClinGen
ExAC
gnomAD
rs775743264
CA290268456
316 S>P No ClinGen
ExAC
gnomAD
CA290268449
rs776969274
317 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA290268451
rs745912936
317 R>T No ClinGen
ExAC
gnomAD
rs1555551340
CA398772766
317 R>W No ClinGen
Ensembl
rs527878050
CA290268448
318 C>* No ClinGen
1000Genomes
ExAC
gnomAD
CA290268446
rs778051729
320 P>L No ClinGen
ExAC
gnomAD
CA290268429
rs779358161
321 W>L No ClinGen
ExAC
gnomAD
CA290268420
rs779358161
321 W>S No ClinGen
ExAC
gnomAD
CA290268417
rs754578525
322 A>P No ClinGen
ExAC
gnomAD
CA290268408
rs766062340
323 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA398772732
rs766062340
323 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA290268404
rs755667705
323 R>H No ClinGen
ExAC
gnomAD
rs766062340
CA290268412
323 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA290268385
rs767382380
325 C>W No ClinGen
ExAC
gnomAD
CA398772704
rs774479210
327 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA290268366
rs774479210
327 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs761669246
CA290268370
327 R>W No ClinGen
ExAC
gnomAD
rs776505607
CA290268349
329 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs776505607
CA290268345
329 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs771194834
CA290268337
331 T>A No ClinGen
ExAC
gnomAD
CA398772679
rs1236498395
331 T>I No ClinGen
gnomAD
CA398772681
rs1236498395
331 T>N No ClinGen
gnomAD
CA290268334
rs747182589
332 W>* No ClinGen
ExAC
gnomAD
rs1458415520
CA398772667
333 A>D No ClinGen
gnomAD
CA290268330
rs568662214
334 R>G No ClinGen
1000Genomes
ExAC
gnomAD
CA290268329
rs772462211
335 D>V No ClinGen
ExAC
gnomAD
rs748503461
CA398772645
CA290268328
336 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs779466352
CA290268323
339 V>A No ClinGen
ExAC
gnomAD
CA290268303
rs748846507
341 K>R No ClinGen
ExAC
gnomAD
rs1321197272
CA398772608
342 H>R No ClinGen
gnomAD
CA398772610
rs1336970867
342 H>Y No ClinGen
gnomAD
rs1390552664
CA398772597
344 R>W No ClinGen
gnomAD
rs1164594749
CA398772588
345 A>D No ClinGen
gnomAD
CA398772585
rs1555551328
346 S>A No ClinGen
Ensembl
CA398772581
rs1378975538
346 S>C No ClinGen
TOPMed
gnomAD
rs1378975538
CA398772580
346 S>F No ClinGen
TOPMed
gnomAD
rs1440423901
CA398772579
347 M>V No ClinGen
TOPMed
gnomAD
CA398772564
rs1472873745
348 K>N No ClinGen
TOPMed
gnomAD
CA398772566
rs1161706015
348 K>R No ClinGen
TOPMed
CA398772555
rs1234616615
349 K>N No ClinGen
gnomAD
CA398772545
rs1197032969
351 T>R No ClinGen
gnomAD
rs1469695625
CA398772549
351 T>S No ClinGen
TOPMed
rs1337975026
CA398772522
354 K>N No ClinGen
TOPMed
rs373252714
CA290268292
354 K>Q No ClinGen
ExAC
gnomAD
rs1487288747
CA398772520
355 G>R No ClinGen
gnomAD
CA398772510
rs1240720413
356 D>E No ClinGen
TOPMed
gnomAD
rs767257618
CA290268290
356 D>G No ClinGen
ExAC
rs750141831
CA290268291
356 D>Y No ClinGen
ExAC
rs62073819
CA290268289
357 L>M No ClinGen
ExAC
gnomAD
rs62073819
CA290268288
357 L>V No ClinGen
ExAC
gnomAD
rs370901010
CA398772503
358 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA290268280
rs370901010
358 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA290268285
rs764096233
358 P>S No ClinGen
ExAC
gnomAD
CA398772494
rs1304178599
360 P>A No ClinGen
gnomAD
rs1407179562
CA398772491
360 P>L No ClinGen
gnomAD
CA398772496
rs1304178599
360 P>S No ClinGen
gnomAD
CA398772488
rs1298137637
361 A>S No ClinGen
gnomAD
rs1555551303
CA398772431
367 S>L No ClinGen
Ensembl
CA398772427
rs1555551302
368 S>L No ClinGen
Ensembl
CA398772363
rs1555551300
379 G>R No ClinGen
Ensembl
rs1555551297
CA398772246
396 R>Q No ClinGen
Ensembl
CA398772230
rs1555551296
399 R>W No ClinGen
Ensembl
rs1555551295
CA398772181
406 P>L No ClinGen
Ensembl
rs1555551292
CA398772140
413 S>F No ClinGen
Ensembl
CA398771728
rs1555551288
474 F>L No ClinGen
Ensembl
rs1555551286
CA398771682
480 V>A No ClinGen
Ensembl
CA398771658
rs1555551285
484 S>Y No ClinGen
Ensembl
rs1555551283
CA398771538
501 R>W No ClinGen
Ensembl
rs1555551282
CA398771501
507 A>T No ClinGen
Ensembl
VAR_063088
rs1567681955
CA398771364
526 Q>P No ClinGen
UniProt
Ensembl
dbSNP

No associated diseases with Q8IZP1

1 regional properties for Q8IZP1

Type Name Position InterPro Accession
domain Rab-GAP-TBC domain 98 - 316 IPR000195

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Lipid-anchor
  • Associated with lipid rafts
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
early endosome membrane The lipid bilayer surrounding an early endosome.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name Definition
GTPase activator activity Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.

1 GO annotations of biological process

Name Definition
activation of GTPase activity Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP.

29 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5R372 RABGAP1L Rab GTPase-activating protein 1-like Homo sapiens (Human) PR
A0A087X1G2 TBC1D3K TBC1 domain family member 3K Homo sapiens (Human) PR
B9A6J9 TBC1D3L TBC1 domain family member 3L Homo sapiens (Human) PR
Q8WUA7 TBC1D22A TBC1 domain family member 22A Homo sapiens (Human) PR
Q6IPX1 TBC1D3C TBC1 domain family member 3C Homo sapiens (Human) PR
A0A087WVF3 TBC1D3D TBC1 domain family member 3D Homo sapiens (Human) PR
A6NER0 TBC1D3F TBC1 domain family member 3F Homo sapiens (Human) PR
A0A087WXS9 TBC1D3I TBC1 domain family member 3I Homo sapiens (Human) PR
Q6DHY5 TBC1D3G TBC1 domain family member 3G Homo sapiens (Human) PR
A0A087X179 TBC1D3E TBC1 domain family member 3E Homo sapiens (Human) PR
P0C7X1 TBC1D3H TBC1 domain family member 3H Homo sapiens (Human) PR
A6NDS4 TBC1D3B TBC1 domain family member 3B Homo sapiens (Human) PR
Q8IV04 TBC1D10C Carabin Homo sapiens (Human) PR
Q5TC63 GRTP1 Growth hormone-regulated TBC protein 1 Homo sapiens (Human) PR
O60343 TBC1D4 TBC1 domain family member 4 Homo sapiens (Human) PR
Q86TI0 TBC1D1 TBC1 domain family member 1 Homo sapiens (Human) PR
O60447 EVI5 Ecotropic viral integration site 5 protein homolog Homo sapiens (Human) PR
Q3MII6 TBC1D25 TBC1 domain family member 25 Homo sapiens (Human) PR
Q2NKQ1 SGSM1 Small G protein signaling modulator 1 Homo sapiens (Human) PR
Q9HA65 TBC1D17 TBC1 domain family member 17 Homo sapiens (Human) PR
Q8TC07 TBC1D15 TBC1 domain family member 15 Homo sapiens (Human) PR
O95759 TBC1D8 TBC1 domain family member 8 Homo sapiens (Human) PR
Q0IIM8 TBC1D8B TBC1 domain family member 8B Homo sapiens (Human) PR
Q66K14 TBC1D9B TBC1 domain family member 9B Homo sapiens (Human) PR
Q6ZT07 TBC1D9 TBC1 domain family member 9 Homo sapiens (Human) PR
Q8TEA7 TBCK TBC domain-containing protein kinase-like protein Homo sapiens (Human) PR
Q9UPU7 TBC1D2B TBC1 domain family member 2B Homo sapiens (Human) PR
A6H6A9 Rabgap1l Rab GTPase-activating protein 1-like Mus musculus (Mouse) PR
Q80XC3 Usp6nl USP6 N-terminal-like protein Mus musculus (Mouse) PR
10 20 30 40 50 60
MDVVEVAGSW WAQEREDIIM KYEKGHRAGL PEDKGPKPFR SYNNNVDHLG IVHETELPPL
70 80 90 100 110 120
TAREAKQIRR EISRKSKWVD MLGDWEKYKS SRKLIDRAYK GMPMNIRGPM WSVLLNTEEM
130 140 150 160 170 180
KLKNPGRYQI MKEKGKRSSE HIQRIDRDVS GTLRKHIFFR DRYGTKQREL LHILLAYEEY
190 200 210 220 230 240
NPEVGYCRDL SHIAALFLLY LPEEDAFWAL VQLLASERHS LQGFHSPNGG TVQGLQDQQE
250 260 270 280 290 300
HVVATSQPKT MGHQDKKDLC GQCSPLGCLI RILIDGISLG LTLRLWDVYL VEGEQALMPI
310 320 330 340 350 360
TRIAFKVQQK RLTKTSRCGP WARFCNRFVD TWARDEDTVL KHLRASMKKL TRKKGDLPPP
370 380 390 400 410 420
AKPEQGSSAS RPVPASRGGK TLCKGDRQAP PGPPARFPRP IWSASPPRAP RSSTPCPGGA
430 440 450 460 470 480
VREDTYPVGT QGVPSPALAQ GGPQGSWRFL QWNSMPRLPT DLDVEGPWFR HYDFRQSCWV
490 500 510 520 530 540
RAISQEDQLA PCWQAEHPAE RVRSAFAAPS TDSDQGTPFR ARDEQQCAPT SGPCLCGLHL
ESSQFPPGF