A0A087X1G2
PR
Gene name |
TBC1D3K |
Protein name |
TBC1 domain family member 3K |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:101060351 |
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 A0A087X1G2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A0A087X1G2-F1 | Predicted | AlphaFoldDB |
43 variants for A0A087X1G2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1318647437 CA398851407 |
3 | V>M | No |
ClinGen TOPMed |
|
|
CA398852154 rs1167966087 |
104 | M>V | No |
ClinGen TOPMed |
|
|
CA398852171 rs1478965138 |
106 | I>T | No |
ClinGen TOPMed |
|
|
CA8519226 rs1198090109 |
107 | R>Q | No |
ClinGen TOPMed |
|
|
CA8519225 rs1378191893 |
107 | R>W | No |
ClinGen TOPMed |
|
|
rs1449586015 CA8519228 |
109 | P>L | No |
ClinGen TOPMed |
|
|
rs1200739886 CA398852196 |
111 | W>* | No |
ClinGen TOPMed |
|
|
CA398852268 rs1567665466 |
122 | L>W | No |
ClinGen Ensembl |
|
|
rs1333845844 CA398852337 |
131 | M>K | No |
ClinGen TOPMed |
|
|
CA398852363 rs1447021876 |
134 | K>R | No |
ClinGen TOPMed |
|
|
rs1399179291 CA398852396 |
139 | S>P | No |
ClinGen TOPMed |
|
|
CA398852452 rs1425261450 |
146 | D>E | No |
ClinGen TOPMed |
|
|
CA398852445 rs1415623943 |
146 | D>N | No |
ClinGen TOPMed |
|
|
rs1171885856 CA398852455 |
147 | R>L | No |
ClinGen TOPMed |
|
|
CA398852457 rs1171885856 |
147 | R>Q | No |
ClinGen TOPMed |
|
|
CA398852466 rs1179098173 |
149 | V>I | No |
ClinGen TOPMed |
|
|
CA398852480 rs1440541821 |
151 | G>R | No |
ClinGen TOPMed |
|
|
CA398852615 rs1214526974 |
168 | R>Q | No |
ClinGen TOPMed |
|
|
rs1271345474 CA398852631 |
171 | L>I | No |
ClinGen TOPMed |
|
|
rs1318709086 CA398852677 |
178 | E>K | No |
ClinGen TOPMed |
|
|
CA398852812 rs1334896737 |
195 | A>T | No |
ClinGen TOPMed |
|
|
rs1292180239 CA398852893 |
206 | A>G | No |
ClinGen TOPMed |
|
|
CA398852912 rs1231375227 |
209 | A>T | No |
ClinGen TOPMed |
|
|
rs1325491527 CA398853367 |
271 | R>L | No |
ClinGen TOPMed |
|
|
CA398853399 rs1356384905 |
276 | G>R | No |
ClinGen TOPMed |
|
|
CA8519274 rs1255119950 |
284 | R>C | No |
ClinGen TOPMed |
|
|
CA398853460 rs1486076159 |
284 | R>H | No |
ClinGen TOPMed |
|
|
rs1255119950 CA398853458 |
284 | R>S | No |
ClinGen TOPMed |
|
|
rs1238635470 CA398853487 |
288 | V>L | No |
ClinGen TOPMed |
|
|
rs1295248705 CA398853524 |
294 | E>K | No |
ClinGen TOPMed |
|
|
CA398853567 rs1355443314 |
299 | P>L | No |
ClinGen TOPMed |
|
|
CA398853581 rs1311603589 |
302 | R>G | No |
ClinGen TOPMed |
|
|
CA398853595 rs1386170427 |
304 | A>T | No |
ClinGen TOPMed |
|
|
CA398853664 rs1203665667 |
312 | L>F | No |
ClinGen TOPMed |
|
|
rs1281547271 CA398853687 |
315 | T>M | No |
ClinGen TOPMed |
|
|
rs1342516962 CA398853689 |
316 | S>P | No |
ClinGen TOPMed |
|
|
rs1280945137 CA8519282 |
317 | R>S | No |
ClinGen TOPMed |
|
|
rs1239050627 CA398853705 |
318 | C>* | No |
ClinGen TOPMed |
|
|
rs1326711564 CA398853728 |
322 | A>P | No |
ClinGen TOPMed |
|
|
rs1375803294 CA398853762 |
327 | R>W | No |
ClinGen TOPMed |
|
|
CA8519288 rs1434325421 |
332 | W>* | No |
ClinGen TOPMed |
|
|
CA398853886 rs1423246930 |
345 | A>D | No |
ClinGen TOPMed |
|
|
rs1180614186 CA8519293 |
358 | P>Q | No |
ClinGen TOPMed |
No associated diseases with A0A087X1G2
1 regional properties for A0A087X1G2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Rab-GAP-TBC domain | 98 - 316 | IPR000195 |
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 |
| 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 |
| A6NER0 | TBC1D3F | TBC1 domain family member 3F | Homo sapiens (Human) | PR |
| B9A6J9 | TBC1D3L | TBC1 domain family member 3L | Homo sapiens (Human) | PR |
| O95759 | TBC1D8 | TBC1 domain family member 8 | Homo sapiens (Human) | PR |
| P0C7X1 | TBC1D3H | TBC1 domain family member 3H | Homo sapiens (Human) | PR |
| Q0IIM8 | TBC1D8B | TBC1 domain family member 8B | Homo sapiens (Human) | PR |
| Q2NKQ1 | SGSM1 | Small G protein signaling modulator 1 | Homo sapiens (Human) | PR |
| Q3MII6 | TBC1D25 | TBC1 domain family member 25 | Homo sapiens (Human) | PR |
| Q5TC63 | GRTP1 | Growth hormone-regulated TBC protein 1 | Homo sapiens (Human) | PR |
| Q66K14 | TBC1D9B | TBC1 domain family member 9B | Homo sapiens (Human) | PR |
| Q6DHY5 | TBC1D3G | TBC1 domain family member 3G | Homo sapiens (Human) | PR |
| Q6ZT07 | TBC1D9 | TBC1 domain family member 9 | Homo sapiens (Human) | PR |
| Q8IV04 | TBC1D10C | Carabin | Homo sapiens (Human) | PR |
| Q8IZP1 | TBC1D3 | TBC1 domain family member 3 | Homo sapiens (Human) | PR |
| Q8TC07 | TBC1D15 | TBC1 domain family member 15 | Homo sapiens (Human) | PR |
| Q9HA65 | TBC1D17 | TBC1 domain family member 17 | Homo sapiens (Human) | PR |
| Q9UPU7 | TBC1D2B | TBC1 domain family member 2B | 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 |
| 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 |
| Q8TEA7 | TBCK | TBC domain-containing protein kinase-like protein | 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 | MKEKGKKSSE | 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 |