B0R0W9

PR
Gene name
tbc1d8b (si:dkey-110k5.6)
Protein name
TBC1 domain family member 8B
Names
Species
Danio rerio (Zebrafish) (Brachydanio rerio)
KEGG Pathway
dre:566657
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

93-166 (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 B0R0W9

Entry ID Method Resolution Chain Position Source
AF-B0R0W9-F1 Predicted AlphaFoldDB

No variants for B0R0W9

Variant ID(s) Position Change Description Diseaes Association Provenance
No variants for B0R0W9

1 associated diseases with B0R0W9

[MIM: 616346]: Developmental and epileptic encephalopathy 31 (DEE31)

A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. {ECO:0000269|PubMed:25262651, ECO:0000269|PubMed:25533962, ECO:0000269|PubMed:27476654}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. {ECO:0000269|PubMed:25262651, ECO:0000269|PubMed:25533962, ECO:0000269|PubMed:27476654}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for B0R0W9

Type Name Position InterPro Accession
No domain, repeats, and functional sites for B0R0W9

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cytosol
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

2 GO annotations of molecular function

Name Definition
calcium ion binding Binding to a calcium ion (Ca2+).
GTPase activator activity Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.

3 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.
glomerular filtration The process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells. The glomerular filtrate is the same as plasma except it has no significant amount of protein.
vesicle-mediated transport A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q0IIM8 TBC1D8B TBC1 domain family member 8B Homo sapiens (Human) PR
A3KGB4 Tbc1d8b TBC1 domain family member 8B Mus musculus (Mouse) PR
10 20 30 40 50 60
MWLKPEEVLL KNALKLWVTE KSNDYFVLQR RRGYGEDSGG LTGLLVGTLD TVLDSTAKVA
70 80 90 100 110 120
PFRILHQTPD SQVYWTIACG ASLEEISQHW DWLQQNIVRT LSVFDSGEDI TSFVQGKIRG
130 140 150 160 170 180
LIAEEGTSAG DEEDPERFRE AVLRFERLFG LPQREKLVTY FSCSYWRGRV PNQGWIYLST
190 200 210 220 230 240
NFLCFYSYML GNEVKLVYPW DEVSRLERTS SVLLAESIRV RVRGEDHFFS MLLRLQQTYL
250 260 270 280 290 300
IMQQLADYAI VRFFDKETFH AEHPLANPLH ITQRALEIHA RNQSFRSFFR LPQEENLCEV
310 320 330 340 350 360
YESFLWVPFS HVNTLGKICV SENYLCFASQ DGSQCHLIIP LWEVFSVELP DRSSRALTVC
370 380 390 400 410 420
LRGKRALRFS EVRDFERLAA TIRRKCGTLG SPQHCITNPD EEGVMVGQSQ AVSTEALMNV
430 440 450 460 470 480
FHPHDAENLD PKMLKERMKE QSWQIHFAEY GRGTGMFCTK KTRDLIVRGV PETLRGELWM
490 500 510 520 530 540
LFSGAVHDMI SHPGYYGRLL EDCMGSSSLA CDEIERDLHR SLPEHPAFQS DTGISALRRV
550 560 570 580 590 600
LTAYAHRNPK IGYCQAMNIL TSVLLLYAKE EEAFWLLVAV CERMLPDYFN RRIIGALVDQ
610 620 630 640 650 660
AVFEELIREH LTQLTEHMTD LSFFSSVSLS WFLTLFISVL PIESAVNVVD CFFYDGIKAI
670 680 690 700 710 720
LQLGLAVLDY NMDNLLCCND DAEAVTVLNR FFDSVTNKDS PLPATVQQAS ATANDKSIQK
730 740 750 760 770 780
VDISDLIKEA YEKYGDIRTE EVENMRKRNK LYVIQTLEDT TKQNVLRVVA QDVKFSASQL
790 800 810 820 830 840
DELYLLFKNH DPSLPYLDQY QLDQSQFSSL FNLLQPWTTH THSRSLARSA FHLLDENGDG
850 860 870 880 890 900
LVNFKEFICG LDILYNRSFT EKLKLLFKLH LQPDSAEDGV IRKCPERGRA KVDLQEYLKQ
910 920 930 940 950 960
WQEDLQRREE NIKDLPRINQ VQFISLTKTL YSVFHGDEEE ESLYRAVARV TSLLLRMEEV
970 980 990 1000 1010 1020
GRKLQDSSPQ KTPQTTPTST SQPESSPTKP TSPESETPAE SRSTHDQPES PVSQHETAPS
1030 1040 1050 1060 1070 1080
HSDITPNSTS HPSTPTSSPT ETSSPVLDTP TDTPSSPCTV RDGDWSFSFE QILASLLNEP
1090 1100
SVVRFFERVV NTDTLITRAR KNQLKDAH