P0C7X1

PR
Gene name
TBC1D3H
Protein name
TBC1 domain family member 3H
Names
Species
Homo sapiens (Human)
KEGG Pathway
hsa:729877
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

27-98 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for P0C7X1

Entry ID Method Resolution Chain Position Source
AF-P0C7X1-F1 Predicted AlphaFoldDB

150 variants for P0C7X1

Variant ID(s) Position Change Description Diseaes Association Provenance
CA399252187
rs1311114784
 3 V>L No gnomAD
ClinGen
CA399252190
rs1311114784
 3 V>M No gnomAD
ClinGen
rs1452178228
CA399252140
 7 A>V No gnomAD
ClinGen
CA399252042
rs1444588636
 15 R>* No gnomAD
ClinGen
CA399252019
rs1395876361
 17 D>H No ClinGen
gnomAD
CA399251933
rs1463521813
 23 E>K No gnomAD
ClinGen
rs1599064112
CA399251865
 26 H>L No ClinGen
Ensembl
CA399251871
rs1363865069
 26 H>N No ClinGen
gnomAD
CA399251857
rs1183422529
 27 R>* No gnomAD
ClinGen
CA399251853
rs755282257
 27 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA290453686
rs755282257
 27 R>Q No ExAC
TOPMed
gnomAD
ClinGen
rs1490595438
CA399251847
 28 A>D No gnomAD
ClinGen
CA399251849
rs749333001
 28 A>P No ClinGen
ExAC
gnomAD
CA290453683
rs749333001
 28 A>S No ClinGen
ExAC
gnomAD
rs1203601832
CA399251836
 29 G>E No ClinGen
gnomAD
CA399251828
rs1350292396
 30 L>V No gnomAD
ClinGen
rs1599063949
CA399251813
 31 P>L No Ensembl
ClinGen
rs1241226010
CA399251818
 31 P>S No ClinGen
gnomAD
rs1241226010
CA399251821
 31 P>T No gnomAD
ClinGen
rs1329442806
CA399251809
 32 E>* No gnomAD
ClinGen
rs1282495811
CA399251803
 32 E>G No ClinGen
gnomAD
rs1405490153
CA399251788
 33 D>V No gnomAD
ClinGen
rs1367207715
CA399251781
 34 K>E No gnomAD
ClinGen
CA399251769
rs1296182206
 35 G>R No ClinGen
gnomAD
rs1296182206
CA399251765
 35 G>W No ClinGen
gnomAD
CA290453676
rs780001741
 36 P>H No ExAC
ClinGen
rs1399736280
CA399251732
 38 P>A No ClinGen
gnomAD
CA399251730
rs1399736280
 38 P>S No ClinGen
gnomAD
rs1385276602
CA399251706
 40 R>* No TOPMed
gnomAD
ClinGen
rs1385276602
CA399251708
 40 R>G No TOPMed
gnomAD
ClinGen
rs1159958702
CA399251703
 40 R>Q No gnomAD
ClinGen
rs1476720975
CA399251695
 41 S>N No gnomAD
ClinGen
CA399251687
rs1427988556
 41 S>R No gnomAD
ClinGen
CA399251683
rs1199320193
 42 Y>H No gnomAD
ClinGen
CA399251662
rs1481083526
 43 N>K No gnomAD
ClinGen
rs1567681919
CA399251627
 46 V>F No Ensembl
ClinGen
rs1567681919
CA399251630
 46 V>I No Ensembl
ClinGen
CA399251612
rs1285160219
 47 D>G No gnomAD
ClinGen
rs1446819131
CA399251618
 47 D>H No TOPMed
gnomAD
ClinGen
rs1446819131
CA399251616
 47 D>N No ClinGen
TOPMed
gnomAD
CA399251603
rs1207133585
 48 H>D No gnomAD
ClinGen
CA290453667
rs750879332
 48 H>R No ClinGen
ExAC
gnomAD
rs1224037889
CA399251555
 52 V>L No ClinGen
gnomAD
rs1216085910
CA399251371
 63 R>Q No TOPMed
gnomAD
ClinGen
CA399251372
rs1259735800
 63 R>W No TOPMed
gnomAD
ClinGen
CA399251351
rs1262122339
 65 A>S No ClinGen
TOPMed
rs1318189689
CA399251342
 65 A>V No ClinGen
TOPMed
gnomAD
rs1555551654
CA399251084
 84 D>E No ClinGen
Ensembl
rs1361862944
CA399250887
 97 R>L No TOPMed
ClinGen
rs1476025794
CA399250768
 107 R>Q No TOPMed
ClinGen
rs1165646650
CA399250747
 109 P>L No ClinGen
TOPMed
rs1459454614
CA399250713
 111 W>C No ClinGen
TOPMed
CA399250589
rs1555551639
 122 L>W No Ensembl
ClinGen
CA399250518
rs1299419760
 128 Y>C No TOPMed
ClinGen
CA399250280
rs1326372339
 146 D>N No ClinGen
TOPMed
rs1349091746
CA399250260
 147 R>Q No ClinGen
TOPMed
CA399250168
rs1262509479
 155 K>R No TOPMed
gnomAD
ClinGen
CA399250159
rs1334732600
 156 H>D No ClinGen
TOPMed
CA399250136
rs1555551613
 157 M>I No ClinGen
Ensembl
rs1599058475
CA399249813
 182 P>L No Ensembl
ClinGen
CA399249542
rs1555551560
 204 E>K No Ensembl
ClinGen
rs1555551538
CA399249187
 232 V>I No Ensembl
ClinGen
rs1555551536
CA399249160
 234 G>W No Ensembl
ClinGen
rs1555551535
CA399249056
 242 V>E No ClinGen
Ensembl
rs1555551509
CA399248634
 276 G>R No ClinGen
Ensembl
rs1555551478
CA399248207
 311 R>P No Ensembl
ClinGen
CA399248173
rs1555551477
 317 R>W No Ensembl
ClinGen
CA399248150
rs1555551475
 320 P>L No Ensembl
ClinGen
rs1555551473
CA399248130
 323 R>C No Ensembl
ClinGen
CA399248132
rs1555551473
 323 R>S No ClinGen
Ensembl
rs1434972756
CA399248124
 324 F>V No ClinGen
TOPMed
rs1555551471
CA399248111
 325 C>W No ClinGen
Ensembl
CA399248103
rs1172567129
 326 N>K No TOPMed
ClinGen
rs1555551467
CA399248088
 329 V>L No ClinGen
Ensembl
rs1555551466
CA399248033
 336 E>D No Ensembl
ClinGen
rs1555551459
CA399247913
 354 Q>K No Ensembl
ClinGen
CA290453149
rs1555551458
 357 L>V No ClinGen
Ensembl
CA399247884
rs1555551457
 358 P>Q No ClinGen
Ensembl
rs1599056105
CA399247842
 363 P>A No ClinGen
Ensembl
rs1469203096
CA399247837
 364 E>K No ClinGen
gnomAD
CA399247817
rs1599056085
 366 G>V No ClinGen
Ensembl
CA399247819
rs1599056091
 366 G>W No Ensembl
ClinGen
CA399247810
rs1457723993
 367 S>L No gnomAD
ClinGen
CA399247804
rs1178174099
 368 S>L No ClinGen
gnomAD
CA399247768
rs1260855720
 374 P>R No gnomAD
ClinGen
rs1240690047
CA399247762
 375 A>G No ClinGen
gnomAD
CA399247764
rs1486668662
 375 A>S No gnomAD
ClinGen
CA399247766
rs1486668662
 375 A>T No ClinGen
gnomAD
CA399247756
rs1264236167
 376 S>* No ClinGen
gnomAD
rs1323650609
CA399247758
 376 S>A No gnomAD
ClinGen
rs1306122272
CA399247752
 377 R>C No gnomAD
ClinGen
rs1295385690
CA399247751
 377 R>H No gnomAD
ClinGen
CA399247749
rs1295385690
 377 R>L No gnomAD
ClinGen
rs1295385690
CA399247750
 377 R>P No ClinGen
gnomAD
rs1306122272
CA399247753
 377 R>S No ClinGen
gnomAD
CA399247746
rs1367672986
 378 G>C No ClinGen
gnomAD
rs1367672986
CA399247748
 378 G>S No gnomAD
ClinGen
rs760507761
CA290453102
 379 G>R No ExAC
gnomAD
ClinGen
rs1406945804
CA399247738
 379 G>V No gnomAD
ClinGen
rs760507761
CA399247741
 379 G>W No ClinGen
ExAC
gnomAD
CA399247736
rs1460452312
 380 K>E No gnomAD
ClinGen
CA399247733
rs1372262763
 380 K>R No ClinGen
gnomAD
CA399247728
rs1266684131
 381 T>A No ClinGen
gnomAD
CA399247729
rs1266684131
 381 T>P No gnomAD
ClinGen
rs1209121106
CA399247721
 382 L>F No gnomAD
ClinGen
rs1480847533
CA399247719
 382 L>P No gnomAD
ClinGen
CA399247699
rs1451129897
 385 G>W No gnomAD
ClinGen
rs1382951413
CA399247691
 386 D>G No ClinGen
gnomAD
CA399247681
rs773164329
 387 R>S No ClinGen
ExAC
gnomAD
CA399247670
rs1202052685
 389 A>S No gnomAD
ClinGen
rs1316917932
CA399247667
 389 A>V No ClinGen
gnomAD
rs1283432652
CA399247664
 390 P>S No ClinGen
gnomAD
rs1202691660
CA399247652
 392 G>C No gnomAD
ClinGen
CA399247630
rs1224836133
 395 A>T No ClinGen
gnomAD
rs1251079293
CA399247616
 396 R>Q No gnomAD
ClinGen
rs1479972977
CA399247619
 396 R>W No gnomAD
ClinGen
CA399247585
rs1228567390
 398 P>L No gnomAD
ClinGen
rs1228567390
CA399247589
 398 P>Q No ClinGen
gnomAD
rs1313120715
CA399247578
 399 R>Q No ClinGen
gnomAD
CA399247581
rs1344788942
 399 R>W No ClinGen
gnomAD
rs1599055700
CA399247547
 402 W>G No ClinGen
Ensembl
rs1599055685
CA399247507
 405 S>P No Ensembl
ClinGen
rs1245530447
CA399247491
 406 P>L No ClinGen
gnomAD
CA399247468
rs1399824556
 408 R>P No gnomAD
ClinGen
CA399247470
rs1399824556
 408 R>Q No ClinGen
gnomAD
CA399247472
rs1464327090
 408 R>W No gnomAD
ClinGen
CA399247464
rs1599055641
 409 A>T No Ensembl
ClinGen
rs1395633731
CA399247435
 411 R>H No ClinGen
gnomAD
rs1471013218
CA399247407
 413 S>F No gnomAD
ClinGen
CA399247354
rs1427225072
 418 G>S No gnomAD
ClinGen
CA399247301
rs1198134981
 422 R>P No gnomAD
ClinGen
CA399247213
rs1419567958
 429 G>D No gnomAD
ClinGen
CA399247012
rs1175253508
 445 G>D No ClinGen
gnomAD
rs1363491652
CA399246744
 465 E>G No gnomAD
ClinGen
rs1162532486
CA399246730
 466 G>D No ClinGen
gnomAD
CA290453087
rs536872143
 470 R>C No ClinGen
1000Genomes
gnomAD
rs571484653
CA290453083
 471 H>R No ClinGen
1000Genomes
gnomAD
rs1233211659
CA399246529
 480 V>A No ClinGen
gnomAD
rs1336869888
CA399246480
 484 S>Y No ClinGen
gnomAD
rs1418034809
CA399246411
 489 L>P No ClinGen
gnomAD
rs1206522747
CA399246394
 491 P>T No ClinGen
gnomAD
CA399246307
rs1599055447
 497 H>P No ClinGen
Ensembl
CA399246259
rs1484205128
 501 R>G No ClinGen
gnomAD
rs1484205128
CA399246257
 501 R>W No gnomAD
ClinGen
rs1290131771
CA399246186
 507 A>T No gnomAD
ClinGen
rs1555551252
CA399246152
 510 S>G No Ensembl
ClinGen
CA399246097
rs1555551250
 514 D>N No Ensembl
ClinGen
rs1337660178
CA399245944
 524 E>D No gnomAD
ClinGen
CA399245904
rs1221991788
 527 C>Y No ClinGen
gnomAD
rs1555551244
CA399245891
 528 A>T No Ensembl
ClinGen

No associated diseases with P0C7X1

1 regional properties for P0C7X1

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

1 GO annotations of cellular component

Name Definition
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
A0A087WVF3 TBC1D3D TBC1 domain family member 3D Homo sapiens (Human) PR
A0A087WXS9 TBC1D3I TBC1 domain family member 3I Homo sapiens (Human) PR
A0A087X179 TBC1D3E TBC1 domain family member 3E Homo sapiens (Human) PR
A6NDS4 TBC1D3B TBC1 domain family member 3B Homo sapiens (Human) PR
Q6DHY5 TBC1D3G TBC1 domain family member 3G Homo sapiens (Human) PR
Q9HA65 TBC1D17 TBC1 domain family member 17 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
Q8WUA7 TBC1D22A TBC1 domain family member 22A Homo sapiens (Human) PR
Q8IZP1 TBC1D3 TBC1 domain family member 3 Homo sapiens (Human) PR
Q6IPX1 TBC1D3C TBC1 domain family member 3C Homo sapiens (Human) PR
A6NER0 TBC1D3F TBC1 domain family member 3F 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
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
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 HIQRIDRDIS GTLRKHMFFR 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 TRKQGDLPPP
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