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Protein

TBC1 domain family member 8B

Gene

TBC1D8B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

May act as a GTPase-activating protein for Rab family protein(s).

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei534Arginine fingerBy similarity1
Sitei573Glutamine fingerBy similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Enzyme and pathway databases

ReactomeiR-HSA-432722. Golgi Associated Vesicle Biogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
TBC1 domain family member 8B
Gene namesi
Name:TBC1D8B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:24715. TBC1D8B.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000133138.
PharmGKBiPA145148061.

Polymorphism and mutation databases

BioMutaiTBC1D8B.
DMDMi189029914.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003371831 – 1120TBC1 domain family member 8BAdd BLAST1120

Proteomic databases

EPDiQ0IIM8.
MaxQBiQ0IIM8.
PaxDbiQ0IIM8.
PeptideAtlasiQ0IIM8.
PRIDEiQ0IIM8.

PTM databases

iPTMnetiQ0IIM8.
PhosphoSitePlusiQ0IIM8.

Expressioni

Gene expression databases

BgeeiENSG00000133138.
CleanExiHS_TBC1D8B.
ExpressionAtlasiQ0IIM8. baseline and differential.
GenevisibleiQ0IIM8. HS.

Organism-specific databases

HPAiHPA023883.
HPA027527.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

IntActiQ0IIM8. 1 interactor.
STRINGi9606.ENSP00000349781.

Structurei

3D structure databases

ProteinModelPortaliQ0IIM8.
SMRiQ0IIM8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini145 – 212GRAM 1Add BLAST68
Domaini285 – 353GRAM 2Add BLAST69
Domaini487 – 674Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST188
Domaini858 – 893EF-handPROSITE-ProRule annotationAdd BLAST36

Domaini

The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's active site.By similarity

Sequence similaritiesi

Contains 1 EF-hand domain.PROSITE-ProRule annotation
Contains 2 GRAM domains.Curated
Contains 1 Rab-GAP TBC domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG4347. Eukaryota.
COG5210. LUCA.
GeneTreeiENSGT00760000119137.
HOGENOMiHOG000201207.
HOVERGENiHBG054142.
InParanoidiQ0IIM8.
KOiK19951.
OMAiEITKHWD.
OrthoDBiEOG091G00RI.
PhylomeDBiQ0IIM8.
TreeFamiTF313145.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
IPR004182. GRAM.
IPR000195. Rab-GTPase-TBC_dom.
[Graphical view]
PfamiPF02893. GRAM. 2 hits.
PF00566. RabGAP-TBC. 1 hit.
[Graphical view]
SMARTiSM00568. GRAM. 2 hits.
SM00164. TBC. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
SSF47923. SSF47923. 2 hits.
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 1 hit.
PS50086. TBC_RABGAP. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q0IIM8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MWLKPEEVLL KNALKLWLME RSNDYFVLQR RRGYGEEGGG GLTGLLVGTL
60 70 80 90 100
DSVLDSTAKV APFRILHQTP DSQVYLSIAC GANREEITKH WDWLEQNIMK
110 120 130 140 150
TLSVFDSNED ITNFVQGKIR GLIAEEGKHC FAKEDDPEKF REALLKFEKC
160 170 180 190 200
FGLPEKEKLV TYYSCSYWKG RVPCQGWLYL STNFLSFYSF LLGSEIKLII
210 220 230 240 250
SWDEVSKLEK TSNVILTESI HVCSQGENHY FSMFLHINQT YLLMEQLANY
260 270 280 290 300
AIRRLFDKET FDNDPVLYNP LQITKRGLEN RAHSEQFNAF FRLPKGESLK
310 320 330 340 350
EVHECFLWVP FSHFNTHGKM CISENYICFA SQDGNQCSVI IPLREVLAID
360 370 380 390 400
KTNDSSKSVI ISIKGKTAFR FHEVKDFEQL VAKLRLRCGA ASTQYHDIST
410 420 430 440 450
ELAISSESTE PSDNFEVQSL TSQRECSKTV NTEALMTVFH PQNLETLNSK
460 470 480 490 500
MLKEKMKEQS WKILFAECGR GVSMFRTKKT RDLVVRGIPE TLRGELWMLF
510 520 530 540 550
SGAVNDMATN PDYYTEVVEQ SLGTCNLATE EIERDLRRSL PEHPAFQSDT
560 570 580 590 600
GISALRRVLT AYAYRNPKIG YCQAMNILTS VLLLYAKEEE AFWLLVAVCE
610 620 630 640 650
RMLPDYFNRR IIGALVDQAV FEELIRDHLP QLTEHMTDMT FFSSVSLSWF
660 670 680 690 700
LTLFISVLPI ESAVNVVDCF FYDGIKAILQ LGLAILDYNL DKLLTCKDDA
710 720 730 740 750
EAVTALNRFF DNVTNKDSPL PSNVQQGSNV SDEKTSHTRV DITDLIRESN
760 770 780 790 800
EKYGNIRYED IHSMRCRNRL YVIQTLEETT KQNVLRVVSQ DVKLSLQELD
810 820 830 840 850
ELYVIFKKEL FLSCYWCLGC PVLKHHDPSL PYLEQYQIDC QQFRALYHLL
860 870 880 890 900
SPWAHSANKD SLALWTFRLL DENSDCLINF KEFSSAIDIM YNGSFTEKLK
910 920 930 940 950
LLFKLHIPPA YTEVKSKDAS KGDELSKEEL LYFSQLHVSK PANEKEAESA
960 970 980 990 1000
KHSPEKGKGK IDIQAYLSQW QDELFKKEEN IKDLPRMNQS QFIQFSKTLY
1010 1020 1030 1040 1050
NLFHEDPEEE SLYQAIAVVT SLLLRMEEVG RKLHSPTSSA KGFSGTVCGS
1060 1070 1080 1090 1100
GGPSEEKTGS HLEKDPCSFR EEPQWSFAFE QILASLLNEP ALVRFFEKPI
1110 1120
DVKAKLENAR ISQLRSRTKM
Length:1,120
Mass (Da):128,709
Last modified:May 20, 2008 - v2
Checksum:i3629EF0AE95E7A96
GO
Isoform 2 (identifier: Q0IIM8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     614-632: ALVDQAVFEELIRDHLPQL → SDDFMPLVRIQGQCVIG
     633-1120: Missing.

Show »
Length:630
Mass (Da):72,366
Checksum:i61D2BEA7369CA101
GO
Isoform 3 (identifier: Q0IIM8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     614-632: ALVDQAVFEELIRDHLPQL → SDDFMPLVRIQGQCVIGEK
     633-1120: Missing.

Show »
Length:632
Mass (Da):72,623
Checksum:i8C8AA1D2BEA7369C
GO

Sequence cautioni

The sequence BAA91071 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti503A → V in BAC85735 (PubMed:14702039).Curated1
Sequence conflicti891Y → C in BAA91071 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_033953614 – 632ALVDQ…HLPQL → SDDFMPLVRIQGQCVIG in isoform 2. 2 PublicationsAdd BLAST19
Alternative sequenceiVSP_043710614 – 632ALVDQ…HLPQL → SDDFMPLVRIQGQCVIGEK in isoform 3. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_033954633 – 1120Missing in isoform 2 and isoform 3. 3 PublicationsAdd BLAST488

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB449890 mRNA. Translation: BAH16633.1.
AB449891 mRNA. Translation: BAH16634.1.
AK000305 mRNA. Translation: BAA91071.1. Different initiation.
AK123957 mRNA. Translation: BAC85735.1.
AL391315, AL591849 Genomic DNA. Translation: CAI39548.1.
AL591849, AL391315 Genomic DNA. Translation: CAI40161.1.
BC122564 mRNA. Translation: AAI22565.1.
CCDSiCCDS14522.1. [Q0IIM8-1]
CCDS14523.1. [Q0IIM8-3]
RefSeqiNP_060222.2. NM_017752.2. [Q0IIM8-1]
NP_942582.1. NM_198881.1. [Q0IIM8-3]
UniGeneiHs.351798.

Genome annotation databases

EnsembliENST00000310452; ENSP00000310675; ENSG00000133138. [Q0IIM8-3]
ENST00000357242; ENSP00000349781; ENSG00000133138. [Q0IIM8-1]
GeneIDi54885.
KEGGihsa:54885.
UCSCiuc004emn.5. human. [Q0IIM8-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB449890 mRNA. Translation: BAH16633.1.
AB449891 mRNA. Translation: BAH16634.1.
AK000305 mRNA. Translation: BAA91071.1. Different initiation.
AK123957 mRNA. Translation: BAC85735.1.
AL391315, AL591849 Genomic DNA. Translation: CAI39548.1.
AL591849, AL391315 Genomic DNA. Translation: CAI40161.1.
BC122564 mRNA. Translation: AAI22565.1.
CCDSiCCDS14522.1. [Q0IIM8-1]
CCDS14523.1. [Q0IIM8-3]
RefSeqiNP_060222.2. NM_017752.2. [Q0IIM8-1]
NP_942582.1. NM_198881.1. [Q0IIM8-3]
UniGeneiHs.351798.

3D structure databases

ProteinModelPortaliQ0IIM8.
SMRiQ0IIM8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ0IIM8. 1 interactor.
STRINGi9606.ENSP00000349781.

PTM databases

iPTMnetiQ0IIM8.
PhosphoSitePlusiQ0IIM8.

Polymorphism and mutation databases

BioMutaiTBC1D8B.
DMDMi189029914.

Proteomic databases

EPDiQ0IIM8.
MaxQBiQ0IIM8.
PaxDbiQ0IIM8.
PeptideAtlasiQ0IIM8.
PRIDEiQ0IIM8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000310452; ENSP00000310675; ENSG00000133138. [Q0IIM8-3]
ENST00000357242; ENSP00000349781; ENSG00000133138. [Q0IIM8-1]
GeneIDi54885.
KEGGihsa:54885.
UCSCiuc004emn.5. human. [Q0IIM8-1]

Organism-specific databases

CTDi54885.
GeneCardsiTBC1D8B.
H-InvDBHIX0016970.
HGNCiHGNC:24715. TBC1D8B.
HPAiHPA023883.
HPA027527.
neXtProtiNX_Q0IIM8.
OpenTargetsiENSG00000133138.
PharmGKBiPA145148061.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4347. Eukaryota.
COG5210. LUCA.
GeneTreeiENSGT00760000119137.
HOGENOMiHOG000201207.
HOVERGENiHBG054142.
InParanoidiQ0IIM8.
KOiK19951.
OMAiEITKHWD.
OrthoDBiEOG091G00RI.
PhylomeDBiQ0IIM8.
TreeFamiTF313145.

Enzyme and pathway databases

ReactomeiR-HSA-432722. Golgi Associated Vesicle Biogenesis.

Miscellaneous databases

GenomeRNAii54885.
PROiQ0IIM8.

Gene expression databases

BgeeiENSG00000133138.
CleanExiHS_TBC1D8B.
ExpressionAtlasiQ0IIM8. baseline and differential.
GenevisibleiQ0IIM8. HS.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
IPR004182. GRAM.
IPR000195. Rab-GTPase-TBC_dom.
[Graphical view]
PfamiPF02893. GRAM. 2 hits.
PF00566. RabGAP-TBC. 1 hit.
[Graphical view]
SMARTiSM00568. GRAM. 2 hits.
SM00164. TBC. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
SSF47923. SSF47923. 2 hits.
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 1 hit.
PS50086. TBC_RABGAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTBC8B_HUMAN
AccessioniPrimary (citable) accession number: Q0IIM8
Secondary accession number(s): B9A6K5
, B9A6K6, Q5JRB7, Q6ZVX5, Q9NXE3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: May 20, 2008
Last modified: November 30, 2016
This is version 92 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.