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Q96BZ9 (TBC20_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 94. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
TBC1 domain family member 20
Gene names
Name:TBC1D20
Synonyms:C20orf140
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length403 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Directly interacts with the N-terminal amphipathic helix of hepatitis C virus (HCV) NS5A. Ref.6

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Domain

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 (Ref.7).

Sequence similarities

Contains 1 Rab-GAP TBC domain.

Ontologies

Keywords
   Biological processHost-virus interaction
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   Molecular functionGTPase activation
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processviral process

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionRab GTPase activator activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96BZ9-1)

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.
Isoform 2 (identifier: Q96BZ9-2)

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.
Isoform 3 (identifier: Q96BZ9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MPSGCYVPRSEPRLLPAPPPAGARVG
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 403403TBC1 domain family member 20
PRO_0000208048

Regions

Transmembrane238 – 25821Helical; Potential
Transmembrane367 – 38721Helical; Potential
Domain60 – 246187Rab-GAP TBC

Sites

Site1051Arginine finger
Site1441Glutamine finger

Natural variations

Alternative sequence1 – 192192Missing in isoform 2.
VSP_008100
Alternative sequence11M → MPSGCYVPRSEPRLLPAPPP AGARVG in isoform 3.
VSP_031524
Alternative sequence209 – 364156SAEVG…TKPRT → RYICVCISVCMHTHAHTPPH LKHSSQAERSFLIVLGGFVK FSPVVPVTSNLGNSVLGAFL GTVLFGGHSPSLEFTSSGER WIRYVCQGKMLRLLPQEKHK VLWDPVARRGRPTMGCFISQ VPKRRNIFLQIPCDVLFLLC LVGNVFLANASFFKIF in isoform 2.
VSP_008101
Alternative sequence365 – 40339Missing in isoform 2.
VSP_008102
Natural variant791N → S.
Corresponds to variant rs36088178 [ dbSNP | Ensembl ].
VAR_052543

Experimental info

Mutagenesis1051R → A: 1000-fold decrease in GAP activity. Ref.7
Mutagenesis1441Q → L: 1000-fold decrease in GAP activity. Ref.7
Sequence conflict1171E → G in BAC86808. Ref.2

Secondary structure

................................................ 403
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 70B011A33DEF527D

FASTA40345,855
        10         20         30         40         50         60 
MALRSAQGDG PTSGHWDGGA EKADFNAKRK KKVAEIHQAL NSDPTDVAAL RRMAISEGGL 

        70         80         90        100        110        120 
LTDEIRRKVW PKLLNVNAND PPPISGKNLR QMSKDYQQVL LDVRRSLRRF PPGMPEEQRE 

       130        140        150        160        170        180 
GLQEELIDII LLILERNPQL HYYQGYHDIV VTFLLVVGER LATSLVEKLS THHLRDFMDP 

       190        200        210        220        230        240 
TMDNTKHILN YLMPIIDQVN PELHDFMQSA EVGTIFALSW LITWFGHVLS DFRHVVRLYD 

       250        260        270        280        290        300 
FFLACHPLMP IYFAAVIVLY REQEVLDCDC DMASVHHLLS QIPQDLPYET LISRAGDLFV 

       310        320        330        340        350        360 
QFPPSELARE AAAQQQAERT AASTFKDFEL ASAQQRPDMV LRQRFRGLLR PEDRTKDVLT 

       370        380        390        400 
KPRTNRFVKL AVMGLTVALG AAALAVVKSA LEWAPKFQLQ LFP 

« Hide

Isoform 2 [UniParc].

Checksum: D2D5BE89785800C6
Show »

FASTA17219,381
Isoform 3 [UniParc].

Checksum: 6D826FCBCF5A491A
Show »

FASTA42848,382

References

« Hide 'large scale' references
[1]"Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity."
Ishibashi K., Kanno E., Itoh T., Fukuda M.
Genes Cells 14:41-52(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Brain.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
Tissue: Brain, Lung and Placenta.
[3]"The DNA sequence and comparative analysis of human chromosome 20."
Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. expand/collapse author list , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Skin.
[6]"A Rab-GAP TBC domain protein binds hepatitis C virus NS5A and mediates viral replication."
Sklan E.H., Staschke K., Oakes T.M., Elazar M., Winters M., Aroeti B., Danieli T., Glenn J.S.
J. Virol. 81:11096-11105(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH HCV NS5A.
[7]"Catalytic mechanism of a mammalian Rab.RabGAP complex in atomic detail."
Gavriljuk K., Gazdag E.M., Itzen A., Kotting C., Goody R.S., Gerwert K.
Proc. Natl. Acad. Sci. U.S.A. 109:21348-21353(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 14-305 ALONE AND IN COMPLEX WITH RAB1B, MUTAGENESIS OF ARG-105 AND GLN-144.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB449906 mRNA. Translation: BAH16649.1.
AK055573 mRNA. No translation available.
AK127062 mRNA. Translation: BAC86808.1.
AK291648 mRNA. Translation: BAF84337.1.
AL121747, AL049761 Genomic DNA. Translation: CAI23015.1.
AL049761, AL121747 Genomic DNA. Translation: CAI23048.1.
CH471133 Genomic DNA. Translation: EAX10670.1.
BC014983 mRNA. No translation available.
RefSeqNP_653229.1. NM_144628.2.
XP_005260718.1. XM_005260661.1.
UniGeneHs.590876.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
4HL4X-ray2.20A14-305[»]
4HLQX-ray3.30A/C/E/G/I1-305[»]
ProteinModelPortalQ96BZ9.
SMRQ96BZ9. Positions 25-305.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126139. 4 interactions.
STRING9606.ENSP00000346139.

PTM databases

PhosphoSiteQ96BZ9.

Polymorphism databases

DMDM34395569.

Proteomic databases

PaxDbQ96BZ9.
PRIDEQ96BZ9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000354200; ENSP00000346139; ENSG00000125875. [Q96BZ9-1]
ENST00000461304; ENSP00000432280; ENSG00000125875. [Q96BZ9-1]
GeneID128637.
KEGGhsa:128637.
UCSCuc002wds.3. human. [Q96BZ9-1]

Organism-specific databases

CTD128637.
GeneCardsGC20M000416.
HGNCHGNC:16133. TBC1D20.
HPAHPA043613.
MIM611663. gene.
neXtProtNX_Q96BZ9.
Orphanet2510. Micro syndrome.
PharmGKBPA25683.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5210.
HOGENOMHOG000006927.
HOVERGENHBG056376.
OMAFELASTQ.
OrthoDBEOG7N63MJ.
PhylomeDBQ96BZ9.
TreeFamTF105942.

Gene expression databases

ArrayExpressQ96BZ9.
BgeeQ96BZ9.
CleanExHS_TBC1D20.
GenevestigatorQ96BZ9.

Family and domain databases

InterProIPR000195. Rab-GTPase-TBC_dom.
[Graphical view]
PfamPF00566. RabGAP-TBC. 1 hit.
[Graphical view]
SMARTSM00164. TBC. 1 hit.
[Graphical view]
SUPFAMSSF47923. SSF47923. 2 hits.
PROSITEPS50086. TBC_RABGAP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTBC1D20. human.
GenomeRNAi128637.
NextBio82406.
PROQ96BZ9.
SOURCESearch...

Entry information

Entry nameTBC20_HUMAN
AccessionPrimary (citable) accession number: Q96BZ9
Secondary accession number(s): A8K6I3 expand/collapse secondary AC list , B9A6M1, Q5JWQ7, Q6ZSY8, Q96NE1, Q9BYM7, Q9H140
Entry history
Integrated into UniProtKB/Swiss-Prot: August 29, 2003
Last sequence update: December 1, 2001
Last modified: April 16, 2014
This is version 94 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 20

Human chromosome 20: entries, gene names and cross-references to MIM