B9A6J9

PR
Gene name
TBC1D3L
Protein name
TBC1 domain family member 3L
Names
Species
Homo sapiens (Human)
KEGG Pathway
hsa:101060376
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

27-97 (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 B9A6J9

Entry ID Method Resolution Chain Position Source
AF-B9A6J9-F1 Predicted AlphaFoldDB

75 variants for B9A6J9

Variant ID(s) Position Change Description Diseaes Association Provenance
CA398858384
rs1272663587
 230 G>R No ClinGen
TOPMed
rs1469037720
CA398858355
 234 G>E No ClinGen
TOPMed
CA398857857
rs1185849240
 303 I>V No ClinGen
TOPMed
TCGA novel 313 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1567668798
CA398857736
 318 C>* No ClinGen
Ensembl
TCGA novel 318 C>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398857705
rs1362903119
 323 R>C No ClinGen
TOPMed
rs1413441998
CA398857704
 323 R>H No ClinGen
TOPMed
TCGA novel 325 C>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1312879099
CA398857681
 326 N>S No ClinGen
TOPMed
CA398857674
rs1356165291
 327 R>Q No ClinGen
TOPMed
CA398857665
rs1450232818
 328 F>L No ClinGen
TOPMed
CA398857661
rs1277861494
 329 V>D No ClinGen
TOPMed
rs1350161189
CA398857648
 331 T>A No ClinGen
TOPMed
rs1224588537
CA398857641
 332 W>L No ClinGen
TOPMed
CA398857633
rs1286423922
 333 A>S No ClinGen
TOPMed
rs1355666894
CA398857629
 334 R>G No ClinGen
TOPMed
rs1208623161
CA398857588
 339 V>A No ClinGen
TOPMed
CA398857581
rs1188970290
 340 L>R No ClinGen
TOPMed
rs1469290114
CA398857540
 346 S>F No ClinGen
TOPMed
TCGA novel 347 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1177467289
CA398857511
 350 L>P No ClinGen
TOPMed
CA398857480
rs1173425303
 355 G>R No ClinGen
TOPMed
TCGA novel 359 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398857376
rs1478452244
 368 S>L No ClinGen
TOPMed
rs1172843043
CA398857339
 374 P>L No ClinGen
TOPMed
CA398857199
rs1461091459
 396 R>Q No ClinGen
TOPMed
CA398857181
rs1326912029
 399 R>W No ClinGen
TOPMed
rs1391170435
CA398857134
 406 P>L No ClinGen
TOPMed
rs1388239032
CA398857125
 408 R>W No ClinGen
TOPMed
rs1315971936
CA398857106
 411 R>C No ClinGen
TOPMed
rs1325745919
CA398857038
 422 R>Q No ClinGen
TOPMed
CA398856942
rs1219201357
 436 P>L No ClinGen
TOPMed
rs1279500939
CA398856934
 438 L>V No ClinGen
TOPMed
CA398856801
rs1332112971
 457 R>C No ClinGen
TOPMed
rs1489259994
CA398856756
 464 V>I No ClinGen
TOPMed
rs1203715730
CA398856713
 470 R>C No ClinGen
TOPMed
CA398856711
rs1261496209
 470 R>H No ClinGen
TOPMed
rs1488889903
CA398856633
 480 V>A No ClinGen
TOPMed
CA398856631
rs1196521250
 481 R>C No ClinGen
TOPMed
rs1255488849
CA398856628
 481 R>H No ClinGen
TOPMed
rs1474954695
CA398856609
 484 S>Y No ClinGen
TOPMed
rs1165589690
CA398856564
 490 A>V No ClinGen
TOPMed
TCGA novel 492 C>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1359722155
CA398856533
 494 Q>H No ClinGen
TOPMed
rs1451943190
CA398856540
 494 Q>K No ClinGen
TOPMed
CA398856536
rs1156546577
 494 Q>R No ClinGen
TOPMed
rs1400526895
CA398856523
 496 E>G No ClinGen
TOPMed
rs1300021247
CA398856501
 499 A>V No ClinGen
TOPMed
CA398856489
rs1413555173
 501 R>W No ClinGen
TOPMed
TCGA novel 502 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398856477
rs1312848037
 503 R>K No ClinGen
TOPMed
rs1323097551
CA398856469
 504 S>L No ClinGen
TOPMed
CA398856453
rs1219419148
CA398856454
 506 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1485634231
CA398856451
 507 A>P No ClinGen
TOPMed
CA398856450
rs1485634231
 507 A>T No ClinGen
TOPMed
rs1182484802
CA398856446
 508 A>T No ClinGen
TOPMed
CA398856433
rs1258382056
 510 S>G No ClinGen
TOPMed
CA398856404
rs1417536048
 514 D>N No ClinGen
TOPMed
CA398856389
rs1379435717
 516 G>S No ClinGen
TOPMed
rs1420017775
CA398856383
 517 T>A No ClinGen
TOPMed
rs1373506746
CA398856348
 522 R>T No ClinGen
TOPMed
CA398856344
rs1465503975
 523 D>H No ClinGen
TOPMed
CA398856336
rs1380760310
 524 E>K No ClinGen
TOPMed
rs1389318716
CA398856325
 525 Q>R No ClinGen
TOPMed
TCGA novel 529 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398856298
rs1377204538
 529 P>S No ClinGen
TOPMed
TCGA novel 534 C>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1278681478
CA398856262
 535 L>F No ClinGen
TOPMed
rs1257807665
CA398856248
 537 G>S No ClinGen
TOPMed
rs1195311229
CA398856240
 538 L>F No ClinGen
TOPMed
TCGA novel 538 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398856186
rs1238948002
 545 F>S No ClinGen
TOPMed
CA398856179
rs1441806723
 546 P>L No ClinGen
TOPMed
CA398856151
rs1180221783
 550 F>Y No ClinGen
TOPMed

No associated diseases with B9A6J9

1 regional properties for B9A6J9

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
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
A0A087X1G2 TBC1D3K TBC1 domain family member 3K 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
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 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 TRKQGDLQPP
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 ARDEQPCAPT SGPCLCGLHL
ESSQFPPGF