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Protein

TBC1 domain family member 3H

Gene

TBC1D3H

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

Functioni

Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity).By similarity

Miscellaneous

TBC1D3 is encoded by a collection of very similar paralogs with multiple copies of each paralog, some human genomes encoding well over 50 copies depending on ethnic origin of the donor.Curated

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGTPase activation

Names & Taxonomyi

Protein namesi
Recommended name:
TBC1 domain family member 3H
Gene namesi
Name:TBC1D3H
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000274226.5
HGNCiHGNC:30708 TBC1D3H
MIMi610811 gene
neXtProtiNX_P0C7X1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA145007654

Polymorphism and mutation databases

DMDMi387912871

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003446241 – 549TBC1 domain family member 3HAdd BLAST549

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi318S-palmitoyl cysteineBy similarity1
Lipidationi325S-palmitoyl cysteineBy similarity1

Post-translational modificationi

Ubiquitinated by a CUL7-based E3 ligase, which leads to proteasomal degradation.By similarity
Palmitoylation is required for membrane localization and protects TBC1D3 from ubiquitination.By similarity

Keywords - PTMi

Lipoprotein, Palmitate, Ubl conjugation

Proteomic databases

PRIDEiP0C7X1
ProteomicsDBi52385

PTM databases

iPTMnetiP0C7X1
PhosphoSitePlusiP0C7X1

Expressioni

Tissue specificityi

Expressed in heart.1 Publication

Gene expression databases

BgeeiENSG00000274226 Expressed in 62 organ(s), highest expression level in testis
CleanExiHS_TBC1D3H
GenevisibleiP0C7X1 HS

Organism-specific databases

HPAiHPA046969
HPA047745
HPA052553

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

IntActiP0C7X1, 1 interactor
MINTiP0C7X1

Structurei

3D structure databases

ProteinModelPortaliP0C7X1
SMRiP0C7X1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini101 – 293Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST193

Phylogenomic databases

eggNOGiKOG1102 Eukaryota
COG5210 LUCA
GeneTreeiENSGT00920000148983
HOGENOMiHOG000293177
HOVERGENiHBG061154
InParanoidiP0C7X1
KOiK20134
OMAiRELFCIL
TreeFamiTF318099

Family and domain databases

InterProiView protein in InterPro
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
PfamiView protein in Pfam
PF00566 RabGAP-TBC, 1 hit
SMARTiView protein in SMART
SM00164 TBC, 1 hit
SUPFAMiSSF47923 SSF47923, 1 hit
PROSITEiView protein in PROSITE
PS50086 TBC_RABGAP, 1 hit

Sequencei

Sequence statusi: Complete.

P0C7X1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDVVEVAGSW WAQEREDIIM KYEKGHRAGL PEDKGPKPFR SYNNNVDHLG
60 70 80 90 100
IVHETELPPL TAREAKQIRR EISRKSKWVD MLGDWEKYKS SRKLIDRAYK
110 120 130 140 150
GMPMNIRGPM WSVLLNTEEM KLKNPGRYQI MKEKGKRSSE HIQRIDRDIS
160 170 180 190 200
GTLRKHMFFR DRYGTKQREL LHILLAYEEY NPEVGYCRDL SHIAALFLLY
210 220 230 240 250
LPEEDAFWAL VQLLASERHS LQGFHSPNGG TVQGLQDQQE HVVATSQPKT
260 270 280 290 300
MGHQDKKDLC GQCSPLGCLI RILIDGISLG LTLRLWDVYL VEGEQALMPI
310 320 330 340 350
TRIAFKVQQK RLTKTSRCGP WARFCNRFVD TWARDEDTVL KHLRASMKKL
360 370 380 390 400
TRKQGDLPPP AKPEQGSSAS RPVPASRGGK TLCKGDRQAP PGPPARFPRP
410 420 430 440 450
IWSASPPRAP RSSTPCPGGA VREDTYPVGT QGVPSPALAQ GGPQGSWRFL
460 470 480 490 500
QWNSMPRLPT DLDVEGPWFR HYDFRQSCWV RAISQEDQLA PCWQAEHPAE
510 520 530 540
RVRSAFAAPS TDSDQGTPFR ARDEQQCAPT SGPCLCGLHL ESSQFPPGF
Length:549
Mass (Da):62,219
Last modified:June 11, 2014 - v3
Checksum:i633C3C4D0AEC5F61
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC233698 Genomic DNA No translation available.
CCDSiCCDS45653.1
RefSeqiNP_001116864.3, NM_001123392.3
XP_006722118.1, XM_006722055.1
UniGeneiHs.105891
Hs.454716
Hs.569742
Hs.743999

Genome annotation databases

EnsembliENST00000610350; ENSP00000482630; ENSG00000274226
ENST00000619743; ENSP00000481632; ENSG00000277974
GeneIDi729877
KEGGihsa:729877
UCSCiuc002hmc.5 human

Similar proteinsi

Entry informationi

Entry nameiTBC3H_HUMAN
AccessioniPrimary (citable) accession number: P0C7X1
Secondary accession number(s): A6NH17, A8MZ78
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 22, 2008
Last sequence update: June 11, 2014
Last modified: September 12, 2018
This is version 90 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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