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 Q6DHY5

Entry ID Method Resolution Chain Position Source
AF-Q6DHY5-F1 Predicted AlphaFoldDB

61 variants for Q6DHY5

Variant ID(s) Position Change Description Diseaes Association Provenance
CA399242366
rs1433610022
62 A>V No TOPMed
ClinGen
CA399242454
rs1463513610
69 R>Q No TOPMed
ClinGen
CA399242461
rs1163998846
70 R>Q No TOPMed
ClinGen
CA399242460
rs1391984781
70 R>W No TOPMed
ClinGen
rs1462126716
CA399242508
74 R>Q No TOPMed
ClinGen
rs1179675814
CA399242585
81 M>I No TOPMed
ClinGen
CA399242618
rs1418579503
84 D>E No TOPMed
ClinGen
CA399242724
rs1251415606
92 R>T No TOPMed
ClinGen
CA399242787
rs1226439896
96 D>H No TOPMed
ClinGen
CA399242792
rs1226439896
96 D>N No ClinGen
TOPMed
CA399242805
rs1297996916
97 R>* No TOPMed
ClinGen
rs1413233490
CA399242820
98 A>V No ClinGen
TOPMed
rs1313600393
CA399242928
107 R>Q No ClinGen
TOPMed
CA399242946
rs1437078601
109 P>L No TOPMed
ClinGen
CA399242976
rs1167639488
111 W>C No ClinGen
TOPMed
rs1375208834
CA399243018
116 N>H No ClinGen
TOPMed
rs1474048397
CA399243155
126 G>V No ClinGen
TOPMed
CA399243185
rs1256148787
129 Q>K No ClinGen
TOPMed
rs1163274238
CA399243227
131 M>V No TOPMed
ClinGen
rs1416735614
CA399243390
144 R>C No TOPMed
ClinGen
rs1416735614
CA399243389
144 R>G No TOPMed
ClinGen
rs1180977809
CA399243426
147 R>Q No TOPMed
ClinGen
rs1230738080
CA399243425
147 R>W No TOPMed
ClinGen
rs1438369270
CA399243447
149 I>V No TOPMed
ClinGen
CA399243523
rs1211608965
155 K>R No ClinGen
TOPMed
CA399243529
rs1334362512
156 H>D No ClinGen
TOPMed
CA399243602
rs1230311242
162 R>Q No TOPMed
ClinGen
CA399243941
rs1379795969
189 D>N No ClinGen
TOPMed
rs1440635373
CA399244067
200 Y>H No ClinGen
TOPMed
CA399244082
rs1395761398
201 L>F No TOPMed
ClinGen
CA399244112
rs1165028566
204 E>K No ClinGen
TOPMed
rs1314299789
CA399244716
280 G>R No ClinGen
TOPMed
rs1372559148
CA399244740
284 R>C No TOPMed
ClinGen
rs1331725188
CA399244742
284 R>H No ClinGen
TOPMed
CA399244827
rs1392102271
296 A>V No ClinGen
TOPMed
CA399244854
rs1370234995
300 I>T No TOPMed
ClinGen
CA399244857
rs1157051932
301 T>P No ClinGen
TOPMed
CA399244871
rs1418953295
303 I>V No TOPMed
ClinGen
CA399244878
rs1181133379
304 A>P No ClinGen
TOPMed
CA399244877
rs1181133379
304 A>T No ClinGen
TOPMed
rs1194497443
CA399244945
311 R>H No TOPMed
ClinGen
rs1489519708
CA399244954
313 T>A No TOPMed
ClinGen
rs1278812674
CA399244957
313 T>R No ClinGen
TOPMed
rs1276953910
CA399244985
317 R>S No TOPMed
ClinGen
CA399244980
rs1337989950
317 R>W No ClinGen
TOPMed
rs1341903593
CA399245005
320 P>L No TOPMed
ClinGen
rs1447264251
CA399245022
323 R>G No TOPMed
ClinGen
CA399245025
rs1177993568
323 R>P No TOPMed
ClinGen
CA399245021
rs1447264251
323 R>S No ClinGen
TOPMed
rs1423187917
CA399245050
326 N>K No TOPMed
ClinGen
rs1464213428
CA399245047
326 N>S No ClinGen
TOPMed
CA399245053
rs1171742493
327 R>Q No ClinGen
TOPMed
rs1478837394
CA399245062
328 F>L No ClinGen
TOPMed
rs1181762845
CA399245064
329 V>I No ClinGen
TOPMed
rs1483884890
CA399245083
331 T>I No TOPMed
ClinGen
rs1483884890
CA399245081
331 T>N No ClinGen
TOPMed
rs1315606969
CA399245121
336 E>D No TOPMed
ClinGen
rs1202875884
CA399245115
336 E>Q No ClinGen
TOPMed
CA399245122
rs1257025661
337 D>N No ClinGen
TOPMed
CA399245194
rs1218924711
347 M>R No ClinGen
TOPMed
CA399245256
rs1310007162
356 D>Y No TOPMed
ClinGen

No associated diseases with Q6DHY5

6 regional properties for Q6DHY5

Type Name Position InterPro Accession
domain Rab-GAP-TBC domain 512 - 725 IPR000195
domain EF-hand domain 886 - 921 IPR002048
domain GRAM domain 146 - 250 IPR004182-1
domain GRAM domain 293 - 402 IPR004182-2
domain TCB1D9/TCB1D9B, PH-GRAM domain 1 157 - 255 IPR036014
domain TCB1D9/TCB1D9B, PH-GRAM domain 2 304 - 399 IPR036017

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
P0C7X1 TBC1D3H TBC1 domain family member 3H 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 WSVLLNIEEM
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