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Protein

TBC1 domain family member 20

Gene

TBC1D20

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

Functioni

GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei105Arginine finger1
Sitei144Glutamine finger1

GO - Molecular functioni

  • GTPase activator activity Source: UniProtKB
  • Rab GTPase binding Source: UniProtKB

GO - Biological processi

  • acrosome assembly Source: Ensembl
  • cargo loading into COPII-coated vesicle Source: UniProtKB
  • COPII vesicle coating Source: Reactome
  • ER to Golgi vesicle-mediated transport Source: UniProtKB
  • Golgi organization Source: UniProtKB
  • lens fiber cell morphogenesis Source: Ensembl
  • lipid particle organization Source: Ensembl
  • positive regulation by host of viral genome replication Source: AgBase
  • positive regulation by virus of viral protein levels in host cell Source: AgBase
  • positive regulation of ER to Golgi vesicle-mediated transport Source: UniProtKB
  • positive regulation of GTPase activity Source: UniProtKB
  • seminiferous tubule development Source: Ensembl
  • virion assembly Source: UniProtKB

Keywordsi

Molecular functionGTPase activation
Biological processHost-virus interaction

Enzyme and pathway databases

ReactomeiR-HSA-204005 COPII-mediated vesicle transport
R-HSA-8854214 TBC/RABGAPs

Names & Taxonomyi

Protein namesi
Recommended name:
TBC1 domain family member 20
Gene namesi
Name:TBC1D20
Synonyms:C20orf140
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi

Organism-specific databases

EuPathDBiHostDB:ENSG00000125875.13
HGNCiHGNC:16133 TBC1D20
MIMi611663 gene
neXtProtiNX_Q96BZ9

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei238 – 258HelicalSequence analysisAdd BLAST21
Transmembranei367 – 387HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Warburg micro syndrome 4 (WARBM4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Warburg micro syndrome, a rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism.
See also OMIM:615663

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi105R → A: 1000-fold decrease in GAP activity. 1 Publication1
Mutagenesisi144Q → L: 1000-fold decrease in GAP activity. 1 Publication1

Organism-specific databases

DisGeNETi128637
MalaCardsiTBC1D20
MIMi615663 phenotype
OpenTargetsiENSG00000125875
Orphaneti2510 Micro syndrome
PharmGKBiPA25683

Polymorphism and mutation databases

BioMutaiTBC1D20
DMDMi34395569

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002080481 – 403TBC1 domain family member 20Add BLAST403

Proteomic databases

EPDiQ96BZ9
MaxQBiQ96BZ9
PaxDbiQ96BZ9
PeptideAtlasiQ96BZ9
PRIDEiQ96BZ9

PTM databases

iPTMnetiQ96BZ9
PhosphoSitePlusiQ96BZ9

Expressioni

Gene expression databases

BgeeiENSG00000125875
CleanExiHS_TBC1D20
GenevisibleiQ96BZ9 HS

Organism-specific databases

HPAiHPA043613

Interactioni

Subunit structurei

Directly interacts with the N-terminal amphipathic helix of hepatitis C virus (HCV) NS5A.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
P2795811EBI-9254454,EBI-8753518From Hepatitis C virus genotype 1a (isolate H).

GO - Molecular functioni

  • Rab GTPase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi126139, 5 interactors
IntActiQ96BZ9, 1 interactor
STRINGi9606.ENSP00000346139

Structurei

Secondary structure

1403
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi26 – 40Combined sources15
Beta strandi42 – 44Combined sources3
Helixi47 – 55Combined sources9
Turni57 – 60Combined sources4
Helixi63 – 73Combined sources11
Helixi89 – 92Combined sources4
Helixi96 – 104Combined sources9
Helixi105 – 109Combined sources5
Beta strandi112 – 114Combined sources3
Helixi116 – 136Combined sources21
Helixi146 – 157Combined sources12
Helixi159 – 171Combined sources13
Turni172 – 175Combined sources4
Helixi176 – 178Combined sources3
Beta strandi180 – 182Combined sources3
Turni184 – 186Combined sources3
Helixi187 – 191Combined sources5
Helixi192 – 199Combined sources8
Helixi201 – 207Combined sources7
Helixi215 – 217Combined sources3
Helixi218 – 222Combined sources5
Turni223 – 228Combined sources6
Helixi232 – 244Combined sources13
Helixi249 – 260Combined sources12
Helixi262 – 266Combined sources5
Helixi274 – 280Combined sources7
Helixi288 – 301Combined sources14

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4HL4X-ray2.20A14-305[»]
4HLQX-ray3.30A/C/E/G/I1-305[»]
ProteinModelPortaliQ96BZ9
SMRiQ96BZ9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini60 – 246Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST187

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.1 Publication

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2595 Eukaryota
ENOG410XQXS LUCA
GeneTreeiENSGT00390000014944
HOGENOMiHOG000006927
HOVERGENiHBG056376
InParanoidiQ96BZ9
KOiK20372
OMAiTLTMYAH
OrthoDBiEOG091G09RR
PhylomeDBiQ96BZ9
TreeFamiTF105942

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, 2 hits
PROSITEiView protein in PROSITE
PS50086 TBC_RABGAP, 1 hit

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q96BZ9-1) [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
MALRSAQGDG PTSGHWDGGA EKADFNAKRK KKVAEIHQAL NSDPTDVAAL
60 70 80 90 100
RRMAISEGGL LTDEIRRKVW PKLLNVNAND PPPISGKNLR QMSKDYQQVL
110 120 130 140 150
LDVRRSLRRF PPGMPEEQRE GLQEELIDII LLILERNPQL HYYQGYHDIV
160 170 180 190 200
VTFLLVVGER LATSLVEKLS THHLRDFMDP TMDNTKHILN YLMPIIDQVN
210 220 230 240 250
PELHDFMQSA EVGTIFALSW LITWFGHVLS DFRHVVRLYD FFLACHPLMP
260 270 280 290 300
IYFAAVIVLY REQEVLDCDC DMASVHHLLS QIPQDLPYET LISRAGDLFV
310 320 330 340 350
QFPPSELARE AAAQQQAERT AASTFKDFEL ASAQQRPDMV LRQRFRGLLR
360 370 380 390 400
PEDRTKDVLT KPRTNRFVKL AVMGLTVALG AAALAVVKSA LEWAPKFQLQ

LFP
Length:403
Mass (Da):45,855
Last modified:December 1, 2001 - v1
Checksum:i70B011A33DEF527D
GO
Isoform 2 (identifier: Q96BZ9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-192: Missing.
     209-364: SAEVGTIFAL...TKDVLTKPRT → RYICVCISVC...LANASFFKIF
     365-403: Missing.

Note: May be due to intron retention. No experimental confirmation available.
Show »
Length:172
Mass (Da):19,381
Checksum:iD2D5BE89785800C6
GO
Isoform 3 (identifier: Q96BZ9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MPSGCYVPRSEPRLLPAPPPAGARVG

Note: No experimental confirmation available.
Show »
Length:428
Mass (Da):48,382
Checksum:i6D826FCBCF5A491A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti117E → G in BAC86808 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05254379N → S. Corresponds to variant dbSNP:rs36088178EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0081001 – 192Missing in isoform 2. 1 PublicationAdd BLAST192
Alternative sequenceiVSP_0315241M → MPSGCYVPRSEPRLLPAPPP AGARVG in isoform 3. 1 Publication1
Alternative sequenceiVSP_008101209 – 364SAEVG…TKPRT → RYICVCISVCMHTHAHTPPH LKHSSQAERSFLIVLGGFVK FSPVVPVTSNLGNSVLGAFL GTVLFGGHSPSLEFTSSGER WIRYVCQGKMLRLLPQEKHK VLWDPVARRGRPTMGCFISQ VPKRRNIFLQIPCDVLFLLC LVGNVFLANASFFKIF in isoform 2. 1 PublicationAdd BLAST156
Alternative sequenceiVSP_008102365 – 403Missing in isoform 2. 1 PublicationAdd BLAST39

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB449906 mRNA Translation: BAH16649.1
AK055573 mRNA No translation available.
AK127062 mRNA Translation: BAC86808.1
AK291648 mRNA Translation: BAF84337.1
AL049761 Genomic DNA No translation available.
AL121747 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10670.1
BC014983 mRNA No translation available.
CCDSiCCDS13002.1 [Q96BZ9-1]
RefSeqiNP_653229.1, NM_144628.3 [Q96BZ9-1]
XP_005260718.1, XM_005260661.1 [Q96BZ9-1]
UniGeneiHs.590876

Genome annotation databases

EnsembliENST00000354200; ENSP00000346139; ENSG00000125875 [Q96BZ9-1]
ENST00000461304; ENSP00000432280; ENSG00000125875 [Q96BZ9-1]
GeneIDi128637
KEGGihsa:128637
UCSCiuc002wds.4 human [Q96BZ9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTBC20_HUMAN
AccessioniPrimary (citable) accession number: Q96BZ9
Secondary accession number(s): A8K6I3
, B9A6M1, Q5JWQ7, Q6ZSY8, Q96NE1, Q9BYM7, Q9H140
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 29, 2003
Last sequence update: December 1, 2001
Last modified: May 23, 2018
This is version 126 of the entry and version 1 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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