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Protein

TBC1 domain family member 8

Gene

TBC1D8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 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)LengthDescriptionGraphical viewFeature identifierActions
Sitei552 – 5521Arginine fingerBy similarity
Sitei591 – 5911Glutamine fingerBy similarity

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
Complete GO annotation...

Keywords - Molecular functioni

GTPase 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

HGNCiHGNC:17791. TBC1D8.

Subcellular locationi

GO - Cellular componenti

  • endomembrane system Source: GO_Central
  • intracellular Source: GO_Central
  • membrane Source: ProtInc
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134885935.

Polymorphism and mutation databases

BioMutaiTBC1D8.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11401140TBC1 domain family member 8PRO_0000208033Add
BLAST

Proteomic databases

EPDiO95759.
MaxQBiO95759.
PaxDbiO95759.
PeptideAtlasiO95759.
PRIDEiO95759.

PTM databases

iPTMnetiO95759.
PhosphoSiteiO95759.

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 interactions.
IntActiO95759. 2 interactions.
STRINGi9606.ENSP00000366036.

Structurei

3D structure databases

ProteinModelPortaliO95759.
SMRiO95759. Positions 458-788.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini145 – 21268GRAM 1Add
BLAST
Domaini285 – 35369GRAM 2Add
BLAST
Domaini505 – 692188Rab-GAP TBCPROSITE-ProRule annotationAdd
BLAST

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

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG4347. Eukaryota.
COG5210. LUCA.
GeneTreeiENSGT00760000119137.
HOGENOMiHOG000276905.
HOVERGENiHBG054142.
InParanoidiO95759.
PhylomeDBiO95759.
TreeFamiTF313145.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
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.
PROSITEiPS50086. TBC_RABGAP. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti977 – 9793EKD → KKK in BAA76517 (PubMed:10373574).Curated
Sequence conflicti1117 – 11171I → T in BAF85515 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti317 – 3171T → A.3 Publications
Corresponds to variant rs2289953 [ dbSNP | Ensembl ].
VAR_047500
Natural varianti954 – 9541G → R.
Corresponds to variant rs1062062 [ dbSNP | Ensembl ].
VAR_024654
Natural varianti1073 – 10731F → L.1 Publication
Corresponds to variant rs1057580 [ dbSNP | Ensembl ].
VAR_060542
Natural varianti1079 – 10791R → G.1 Publication
Corresponds to variant rs746924 [ dbSNP | Ensembl ].
VAR_022128
Natural varianti1108 – 11081M → V.
Corresponds to variant rs3739011 [ dbSNP | Ensembl ].
VAR_022129

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 243243Missing in isoform 2. 1 PublicationVSP_038340Add
BLAST

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_001102426.1. [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

Cross-referencesi

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_001102426.1. [O95759-1]
UniGeneiHs.442657.

3D structure databases

ProteinModelPortaliO95759.
SMRiO95759. Positions 458-788.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116311. 4 interactions.
IntActiO95759. 2 interactions.
STRINGi9606.ENSP00000366036.

PTM databases

iPTMnetiO95759.
PhosphoSiteiO95759.

Polymorphism and mutation databases

BioMutaiTBC1D8.

Proteomic databases

EPDiO95759.
MaxQBiO95759.
PaxDbiO95759.
PeptideAtlasiO95759.
PRIDEiO95759.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi11138.
GeneCardsiTBC1D8.
H-InvDBHIX0002324.
HIX0030106.
HGNCiHGNC:17791. TBC1D8.
HPAiCAB015211.
HPA037496.
neXtProtiNX_O95759.
PharmGKBiPA134885935.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4347. Eukaryota.
COG5210. LUCA.
GeneTreeiENSGT00760000119137.
HOGENOMiHOG000276905.
HOVERGENiHBG054142.
InParanoidiO95759.
PhylomeDBiO95759.
TreeFamiTF313145.

Miscellaneous databases

ChiTaRSiTBC1D8. human.
GenomeRNAii11138.
PROiO95759.

Gene expression databases

BgeeiENSG00000204634.
CleanExiHS_TBC1D8.
ExpressionAtlasiO95759. baseline and differential.
GenevisibleiO95759. HS.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
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.
PROSITEiPS50086. TBC_RABGAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTBCD8_HUMAN
AccessioniPrimary (citable) accession number: O95759
Secondary accession number(s): A6NDL4
, A8K9W1, B9A6K4, Q53SQ4, Q9UQ32
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: November 3, 2009
Last modified: September 7, 2016
This is version 119 of the entry and version 3 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 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
  4. 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.