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Protein

TBC1 domain family member 8

Gene

TBC1D8

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

Functioni

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei552Arginine fingerBy similarity1
Sitei591Glutamine fingerBy similarity1

GO - Molecular functioni

GO - Biological processi

  • activation of GTPase activity Source: GO_Central
  • blood circulation Source: ProtInc
  • intracellular protein transport Source: GO_Central
  • positive regulation of cell proliferation Source: ProtInc
  • regulation of vesicle fusion Source: GO_Central

Keywordsi

Molecular functionGTPase activation

Names & Taxonomyi

Protein namesi
Recommended name:
TBC1 domain family member 8
Alternative name(s):
AD 3
Vascular Rab-GAP/TBC-containing protein
Gene namesi
Name:TBC1D8
Synonyms:VRP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000204634.12
HGNCiHGNC:17791 TBC1D8
neXtProtiNX_O95759

Subcellular locationi

Pathology & Biotechi

Organism-specific databases

DisGeNETi11138
OpenTargetsiENSG00000204634
PharmGKBiPA134885935

Polymorphism and mutation databases

BioMutaiTBC1D8

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002080331 – 1140TBC1 domain family member 8Add BLAST1140

Proteomic databases

MaxQBiO95759
PaxDbiO95759
PeptideAtlasiO95759
PRIDEiO95759
ProteomicsDBi51034
51035 [O95759-2]

PTM databases

iPTMnetiO95759
PhosphoSitePlusiO95759

Expressioni

Gene expression databases

BgeeiENSG00000204634
CleanExiHS_TBC1D8
ExpressionAtlasiO95759 baseline and differential
GenevisibleiO95759 HS

Organism-specific databases

HPAiCAB015211
HPA037496

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116311, 4 interactors
IntActiO95759, 3 interactors
STRINGi9606.ENSP00000366036

Structurei

3D structure databases

ProteinModelPortaliO95759
SMRiO95759
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini145 – 212GRAM 1Add BLAST68
Domaini285 – 353GRAM 2Add BLAST69
Domaini505 – 692Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST188

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

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG4347 Eukaryota
COG5210 LUCA
GeneTreeiENSGT00760000119137
HOGENOMiHOG000276905
HOVERGENiHBG054142
InParanoidiO95759
KOiK19951
PhylomeDBiO95759
TreeFamiTF313145

Family and domain databases

CDDicd13349 PH-GRAM1_TBC1D8, 1 hit
cd13353 PH-GRAM2_TBC1D8, 1 hit
Gene3Di2.30.29.30, 2 hits
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR004182 GRAM
IPR011993 PH-like_dom_sf
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
IPR036009 TBC1D8_PH-GRAM1
IPR036016 TBC1D8_PH-GRAM2
PfamiView protein in Pfam
PF02893 GRAM, 2 hits
PF00566 RabGAP-TBC, 1 hit
SMARTiView protein in SMART
SM00568 GRAM, 2 hits
SM00164 TBC, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit
SSF47923 SSF47923, 2 hits
PROSITEiView protein in PROSITE
PS50086 TBC_RABGAP, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O95759-1) [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 KNALKLWVTQ KSSCYFILQR RRGHGEGGGR LTGRLVGALD
60 70 80 90 100
AVLDSNARVA PFRILLQVPG SQVYSPIACG ATLEEINQHW DWLEQNLLHT
110 120 130 140 150
LSVFDNKDDI ASFVKGKVKA LIAEETSSRL AEQEEEPEKF REALVKFEAR
160 170 180 190 200
FNFPEAEKLV TYYSCCCWKG RVPRQGWLYL SINHLCFYSF FLGKELKLVV
210 220 230 240 250
PWVDIQKLER TSNVFLTDTI RITTQNKERD FSMFLNLDEV FKVMEQLADV
260 270 280 290 300
TLRRLLDNEV FDLDPDLQEP SQITKRDLEA RAQNEFFRAF FRLPRKEKLH
310 320 330 340 350
AVVDCSLWTP FSRCHTTGRM FASDSYICFA SREDGCCKII LPLREVVSIE
360 370 380 390 400
KMEDTSLLPH PIIVSIRSKV AFQFIELRDR DSLVEALLAR LKQVHANHPV
410 420 430 440 450
HYDTSADDDM ASLVFHSTSM CSDHRFGDLE MMSSQNSEES EKEKSPLMHP
460 470 480 490 500
DALVTAFQQS GSQSPDSRMS REQIKISLWN DHFVEYGRTV CMFRTEKIRK
510 520 530 540 550
LVAMGIPESL RGRLWLLFSD AVTDLASHPG YYGNLVEESL GKCCLVTEEI
560 570 580 590 600
ERDLHRSLPE HPAFQNETGI AALRRVLTAY AHRNPKIGYC QSMNILTSVL
610 620 630 640 650
LLYTKEEEAF WLLVAVCERM LPDYFNHRVI GAQVDQSVFE ELIKGHLPEL
660 670 680 690 700
AEHMNDLSAL ASVSLSWFLT LFLSIMPLES AVNVVDCFFY DGIKAIFQLG
710 720 730 740 750
LAVLEANAED LCSSKDDGQA LMILSRFLDH IKNEDSPGPP VGSHHAFFSD
760 770 780 790 800
DQEPYPVTDI SDLIRDSYEK FGDQSVEQIE HLRYKHRIRV LQGHEDTTKQ
810 820 830 840 850
NVLRVVIPEV SILPEDLEEL YDLFKREHMM SCYWEQPRPM ASRHDPSRPY
860 870 880 890 900
AEQYRIDARQ FAHLFQLVSP WTCGAHTEIL AERTFRLLDD NMDQLIEFKA
910 920 930 940 950
FVSCLDIMYN GEMNEKIKLL YRLHIPPALT ENDRDSQSPL RNPLLSTSRP
960 970 980 990 1000
LVFGKPNGDA VDYQKQLKQM IKDLAKEKDK TEKELPKMSQ REFIQFCKTL
1010 1020 1030 1040 1050
YSMFHEDPEE NDLYQAIATV TTLLLQIGEV GQRGSSSGSC SQECGEELRA
1060 1070 1080 1090 1100
SAPSPEDSVF ADTGKTPQDS QAFPEAAERD WTVSLEHILA SLLTEQSLVN
1110 1120 1130 1140
FFEKPLDMKS KLENAKINQY NLKTFEMSHQ SQSELKLSNL
Length:1,140
Mass (Da):130,835
Last modified:November 3, 2009 - v3
Checksum:i84A98A876F8DD108
GO
Isoform 2 (identifier: O95759-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-243: Missing.

Note: No experimental confirmation available.
Show »
Length:897
Mass (Da):102,741
Checksum:iD4742D7BF595CA36
GO

Sequence cautioni

The sequence AAY14824 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence BAF85515 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti977 – 979EKD → KKK in BAA76517 (PubMed:10373574).Curated3
Sequence conflicti1117I → T in BAF85515 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047500317T → A3 PublicationsCorresponds to variant dbSNP:rs2289953Ensembl.1
Natural variantiVAR_024654954G → R. Corresponds to variant dbSNP:rs1062062Ensembl.1
Natural variantiVAR_0605421073F → L1 PublicationCorresponds to variant dbSNP:rs1057580Ensembl.1
Natural variantiVAR_0221281079R → G1 PublicationCorresponds to variant dbSNP:rs746924Ensembl.1
Natural variantiVAR_0221291108M → V. Corresponds to variant dbSNP:rs3739011Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0383401 – 243Missing in isoform 2. 1 PublicationAdd BLAST243

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB024057 mRNA Translation: BAA75489.1
AB017114 mRNA Translation: BAA76517.1
AB449889 mRNA Translation: BAH16632.1
AC016738 Genomic DNA Translation: AAY14824.1 Sequence problems.
AC013722 Genomic DNA No translation available.
AK292826 mRNA Translation: BAF85515.1 Different initiation.
CCDSiCCDS46375.1 [O95759-1]
RefSeqiNP_001095896.1, NM_001102426.2 [O95759-1]
UniGeneiHs.442657

Genome annotation databases

EnsembliENST00000376840; ENSP00000366036; ENSG00000204634 [O95759-1]
GeneIDi11138
KEGGihsa:11138
UCSCiuc010fiv.4 human [O95759-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTBCD8_HUMAN
AccessioniPrimary (citable) accession number: O95759
Secondary accession number(s): A6NDL4
, A8K9W1, B9A6K4, Q53SQ4, Q9UQ32
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: November 3, 2009
Last modified: June 20, 2018
This is version 129 of the entry and version 3 of the sequence. See 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 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations

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