UniProtKB - Q96BZ9 (TBC20_HUMAN)
TBC1 domain family member 20
TBC1D20
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 105 | Arginine finger1 Publication | 1 | |
Sitei | 144 | Glutamine finger1 Publication | 1 |
GO - Molecular functioni
- GTPase activator activity Source: UniProtKB
- small GTPase binding Source: UniProtKB
GO - Biological processi
- acrosome assembly Source: Ensembl
- COPII-coated vesicle cargo loading Source: UniProtKB
- endoplasmic reticulum to Golgi vesicle-mediated transport Source: UniProtKB
- Golgi organization Source: UniProtKB
- lens fiber cell morphogenesis Source: Ensembl
- lipid droplet 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 function | GTPase activation |
Biological process | Host-virus interaction |
Enzyme and pathway databases
PathwayCommonsi | Q96BZ9 |
Reactomei | R-HSA-204005, COPII-mediated vesicle transport R-HSA-8854214, TBC/RABGAPs |
SABIO-RKi | Q96BZ9 |
SignaLinki | Q96BZ9 |
Names & Taxonomyi
Protein namesi | Recommended name: TBC1 domain family member 20 |
Gene namesi | Name:TBC1D20 Synonyms:C20orf140 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:16133, TBC1D20 |
MIMi | 611663, gene |
neXtProti | NX_Q96BZ9 |
VEuPathDBi | HostDB:ENSG00000125875 |
Subcellular locationi
Other locations
- Membrane Curated; Multi-pass membrane protein Curated
Endoplasmic reticulum
- endoplasmic reticulum Source: AgBase
- endoplasmic reticulum membrane Source: UniProtKB
Golgi apparatus
- integral component of Golgi membrane Source: UniProtKB
Nucleus
- nuclear membrane Source: UniProtKB
Other locations
- endoplasmic reticulum-Golgi intermediate compartment membrane Source: Reactome
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 238 – 258 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 367 – 387 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Warburg micro syndrome 4 (WARBM4)1 Publication
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 105 | R → A: 1000-fold decrease in GAP activity. 1 Publication | 1 | |
Mutagenesisi | 144 | Q → L: 1000-fold decrease in GAP activity. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 128637 |
GeneReviewsi | TBC1D20 |
MalaCardsi | TBC1D20 |
MIMi | 615663, phenotype |
OpenTargetsi | ENSG00000125875 |
Orphaneti | 2510, Micro syndrome |
PharmGKBi | PA25683 |
Miscellaneous databases
Pharosi | Q96BZ9, Tbio |
Genetic variation databases
BioMutai | TBC1D20 |
DMDMi | 34395569 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000208048 | 1 – 403 | TBC1 domain family member 20Add BLAST | 403 |
Proteomic databases
EPDi | Q96BZ9 |
jPOSTi | Q96BZ9 |
MassIVEi | Q96BZ9 |
MaxQBi | Q96BZ9 |
PaxDbi | Q96BZ9 |
PeptideAtlasi | Q96BZ9 |
PRIDEi | Q96BZ9 |
ProteomicsDBi | 76134 [Q96BZ9-1] 76136 [Q96BZ9-3] |
PTM databases
iPTMneti | Q96BZ9 |
MetOSitei | Q96BZ9 |
PhosphoSitePlusi | Q96BZ9 |
Expressioni
Gene expression databases
Bgeei | ENSG00000125875, Expressed in tendon and 213 other tissues |
Genevisiblei | Q96BZ9, HS |
Organism-specific databases
HPAi | ENSG00000125875, Low tissue specificity |
Interactioni
Subunit structurei
(Microbial infection) Directly interacts with the N-terminal amphipathic helix of hepatitis C virus (HCV) NS5A.
1 PublicationBinary interactionsi
Q96BZ9
GO - Molecular functioni
- small GTPase binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 126139, 24 interactors |
IntActi | Q96BZ9, 9 interactors |
MINTi | Q96BZ9 |
STRINGi | 9606.ENSP00000346139 |
Miscellaneous databases
RNActi | Q96BZ9, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q96BZ9 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 60 – 246 | Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST | 187 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 25 | DisorderedSequence analysisAdd BLAST | 25 |
Domaini
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2595, Eukaryota |
GeneTreei | ENSGT00390000014944 |
HOGENOMi | CLU_039465_1_0_1 |
InParanoidi | Q96BZ9 |
OMAi | MYAHNIE |
PhylomeDBi | Q96BZ9 |
TreeFami | TF105942 |
Family and domain databases
InterProi | View protein in InterPro IPR000195, Rab-GTPase-TBC_dom IPR035969, Rab-GTPase_TBC_sf |
Pfami | View protein in Pfam PF00566, RabGAP-TBC, 1 hit |
SMARTi | View protein in SMART SM00164, TBC, 1 hit |
SUPFAMi | SSF47923, SSF47923, 2 hits |
PROSITEi | View protein in PROSITE PS50086, TBC_RABGAP, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A7P0T991 | A0A7P0T991_HUMAN | TBC1 domain family member 20 | TBC1D20 | 341 | Annotation score: | ||
A0A7P0T8Q3 | A0A7P0T8Q3_HUMAN | TBC1 domain family member 20 | TBC1D20 | 435 | Annotation score: | ||
A0A7P0T9R2 | A0A7P0T9R2_HUMAN | TBC1 domain family member 20 | TBC1D20 | 376 | Annotation score: | ||
A0A7P0TBI8 | A0A7P0TBI8_HUMAN | TBC1 domain family member 20 | TBC1D20 | 379 | Annotation score: | ||
A0A7P0T865 | A0A7P0T865_HUMAN | TBC1 domain family member 20 | TBC1D20 | 378 | Annotation score: | ||
A0A7P0T876 | A0A7P0T876_HUMAN | TBC1 domain family member 20 | TBC1D20 | 177 | Annotation score: | ||
A0A7P0TBA8 | A0A7P0TBA8_HUMAN | TBC1 domain family member 20 | TBC1D20 hCG_39876 | 199 | Annotation score: | ||
A0A7P0TAF7 | A0A7P0TAF7_HUMAN | TBC1 domain family member 20 | TBC1D20 | 126 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 117 | E → G in BAC86808 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_052543 | 79 | N → S. Corresponds to variant dbSNP:rs36088178EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_008100 | 1 – 192 | Missing in isoform 2. 1 PublicationAdd BLAST | 192 | |
Alternative sequenceiVSP_031524 | 1 | M → MPSGCYVPRSEPRLLPAPPP AGARVG in isoform 3. 1 Publication | 1 | |
Alternative sequenceiVSP_008101 | 209 – 364 | SAEVG…TKPRT → RYICVCISVCMHTHAHTPPH LKHSSQAERSFLIVLGGFVK FSPVVPVTSNLGNSVLGAFL GTVLFGGHSPSLEFTSSGER WIRYVCQGKMLRLLPQEKHK VLWDPVARRGRPTMGCFISQ VPKRRNIFLQIPCDVLFLLC LVGNVFLANASFFKIF in isoform 2. 1 PublicationAdd BLAST | 156 | |
Alternative sequenceiVSP_008102 | 365 – 403 | Missing in isoform 2. 1 PublicationAdd BLAST | 39 |
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. |
CCDSi | CCDS13002.1 [Q96BZ9-1] |
RefSeqi | NP_653229.1, NM_144628.3 [Q96BZ9-1] XP_005260718.1, XM_005260661.1 [Q96BZ9-1] |
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
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. |
CCDSi | CCDS13002.1 [Q96BZ9-1] |
RefSeqi | NP_653229.1, NM_144628.3 [Q96BZ9-1] XP_005260718.1, XM_005260661.1 [Q96BZ9-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4HL4 | X-ray | 2.20 | A | 14-305 | [»] | |
4HLQ | X-ray | 3.30 | A/C/E/G/I | 1-305 | [»] | |
SMRi | Q96BZ9 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 126139, 24 interactors |
IntActi | Q96BZ9, 9 interactors |
MINTi | Q96BZ9 |
STRINGi | 9606.ENSP00000346139 |
PTM databases
iPTMneti | Q96BZ9 |
MetOSitei | Q96BZ9 |
PhosphoSitePlusi | Q96BZ9 |
Genetic variation databases
BioMutai | TBC1D20 |
DMDMi | 34395569 |
Proteomic databases
EPDi | Q96BZ9 |
jPOSTi | Q96BZ9 |
MassIVEi | Q96BZ9 |
MaxQBi | Q96BZ9 |
PaxDbi | Q96BZ9 |
PeptideAtlasi | Q96BZ9 |
PRIDEi | Q96BZ9 |
ProteomicsDBi | 76134 [Q96BZ9-1] 76136 [Q96BZ9-3] |
Protocols and materials databases
Antibodypediai | 22961, 108 antibodies from 19 providers |
DNASUi | 128637 |
Genome annotation databases
Organism-specific databases
CTDi | 128637 |
DisGeNETi | 128637 |
GeneCardsi | TBC1D20 |
GeneReviewsi | TBC1D20 |
HGNCi | HGNC:16133, TBC1D20 |
HPAi | ENSG00000125875, Low tissue specificity |
MalaCardsi | TBC1D20 |
MIMi | 611663, gene 615663, phenotype |
neXtProti | NX_Q96BZ9 |
OpenTargetsi | ENSG00000125875 |
Orphaneti | 2510, Micro syndrome |
PharmGKBi | PA25683 |
VEuPathDBi | HostDB:ENSG00000125875 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2595, Eukaryota |
GeneTreei | ENSGT00390000014944 |
HOGENOMi | CLU_039465_1_0_1 |
InParanoidi | Q96BZ9 |
OMAi | MYAHNIE |
PhylomeDBi | Q96BZ9 |
TreeFami | TF105942 |
Enzyme and pathway databases
PathwayCommonsi | Q96BZ9 |
Reactomei | R-HSA-204005, COPII-mediated vesicle transport R-HSA-8854214, TBC/RABGAPs |
SABIO-RKi | Q96BZ9 |
SignaLinki | Q96BZ9 |
Miscellaneous databases
BioGRID-ORCSi | 128637, 53 hits in 1051 CRISPR screens |
ChiTaRSi | TBC1D20, human |
GenomeRNAii | 128637 |
Pharosi | Q96BZ9, Tbio |
PROi | PR:Q96BZ9 |
RNActi | Q96BZ9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000125875, Expressed in tendon and 213 other tissues |
Genevisiblei | Q96BZ9, HS |
Family and domain databases
InterProi | View protein in InterPro IPR000195, Rab-GTPase-TBC_dom IPR035969, Rab-GTPase_TBC_sf |
Pfami | View protein in Pfam PF00566, RabGAP-TBC, 1 hit |
SMARTi | View protein in SMART SM00164, TBC, 1 hit |
SUPFAMi | SSF47923, SSF47923, 2 hits |
PROSITEi | View protein in PROSITE PS50086, TBC_RABGAP, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | TBC20_HUMAN | |
Accessioni | Q96BZ9Primary (citable) accession number: Q96BZ9 Secondary accession number(s): A8K6I3 Q9H140 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 29, 2003 |
Last sequence update: | December 1, 2001 | |
Last modified: | February 23, 2022 | |
This is version 150 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 20
Human chromosome 20: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references