Q6DHY5
Gene name |
TBC1D3G |
Protein name |
TBC1 domain family member 3G |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:101060321 |
EC number |
|
Protein Class |
|
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 |
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 |