SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q96BZ9

- TBC20_HUMAN

UniProt

Q96BZ9 - TBC20_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
TBC1 domain family member 20
Gene
TBC1D20, C20orf140
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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)LengthDescriptionGraphical viewFeature identifierActions
Sitei105 – 1051Arginine finger
Sitei144 – 1441Glutamine finger

GO - Molecular functioni

  1. Rab GTPase activator activity Source: InterPro
  2. protein binding Source: IntAct

GO - Biological processi

  1. viral process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Keywords - Biological processi

Host-virus interaction

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
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:16133. TBC1D20.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei238 – 25821Helical; Reviewed prediction
Add
BLAST
Transmembranei367 – 38721Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Warburg micro syndrome 4 (WARBM4) [MIM:615663]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi105 – 1051R → A: 1000-fold decrease in GAP activity. 1 Publication
Mutagenesisi144 – 1441Q → L: 1000-fold decrease in GAP activity. 1 Publication

Organism-specific databases

MIMi615663. phenotype.
Orphaneti2510. Micro syndrome.
PharmGKBiPA25683.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 403403TBC1 domain family member 20
PRO_0000208048Add
BLAST

Proteomic databases

MaxQBiQ96BZ9.
PaxDbiQ96BZ9.
PRIDEiQ96BZ9.

PTM databases

PhosphoSiteiQ96BZ9.

Expressioni

Gene expression databases

ArrayExpressiQ96BZ9.
BgeeiQ96BZ9.
CleanExiHS_TBC1D20.
GenevestigatoriQ96BZ9.

Organism-specific databases

HPAiHPA043613.

Interactioni

Subunit structurei

Directly interacts with the N-terminal amphipathic helix of hepatitis C virus (HCV) NS5A.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
P2795811EBI-9254454,EBI-8753518From a different organism.

Protein-protein interaction databases

BioGridi126139. 4 interactions.
IntActiQ96BZ9. 1 interaction.
STRINGi9606.ENSP00000346139.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi26 – 4015
Beta strandi42 – 443
Helixi47 – 559
Turni57 – 604
Helixi63 – 7311
Helixi89 – 924
Helixi96 – 1049
Helixi105 – 1095
Beta strandi112 – 1143
Helixi116 – 13621
Helixi146 – 15712
Helixi159 – 17113
Turni172 – 1754
Helixi176 – 1783
Beta strandi180 – 1823
Turni184 – 1863
Helixi187 – 1915
Helixi192 – 1998
Helixi201 – 2077
Helixi215 – 2173
Helixi218 – 2225
Turni223 – 2286
Helixi232 – 24413
Helixi249 – 26012
Helixi262 – 2665
Helixi274 – 2807
Helixi288 – 30114

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4HL4X-ray2.20A14-305[»]
4HLQX-ray3.30A/C/E/G/I1-305[»]
ProteinModelPortaliQ96BZ9.
SMRiQ96BZ9. Positions 25-305.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini60 – 246187Rab-GAP TBC
Add
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 (1 Publication).

Sequence similaritiesi

Contains 1 Rab-GAP TBC domain.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG5210.
HOGENOMiHOG000006927.
HOVERGENiHBG056376.
OMAiLECECDM.
OrthoDBiEOG7N63MJ.
PhylomeDBiQ96BZ9.
TreeFamiTF105942.

Family and domain databases

InterProiIPR000195. Rab-GTPase-TBC_dom.
[Graphical view]
PfamiPF00566. RabGAP-TBC. 1 hit.
[Graphical view]
SMARTiSM00164. TBC. 1 hit.
[Graphical view]
SUPFAMiSSF47923. SSF47923. 2 hits.
PROSITEiPS50086. TBC_RABGAP. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

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

MALRSAQGDG PTSGHWDGGA EKADFNAKRK KKVAEIHQAL NSDPTDVAAL    50
RRMAISEGGL LTDEIRRKVW PKLLNVNAND PPPISGKNLR QMSKDYQQVL 100
LDVRRSLRRF PPGMPEEQRE GLQEELIDII LLILERNPQL HYYQGYHDIV 150
VTFLLVVGER LATSLVEKLS THHLRDFMDP TMDNTKHILN YLMPIIDQVN 200
PELHDFMQSA EVGTIFALSW LITWFGHVLS DFRHVVRLYD FFLACHPLMP 250
IYFAAVIVLY REQEVLDCDC DMASVHHLLS QIPQDLPYET LISRAGDLFV 300
QFPPSELARE AAAQQQAERT AASTFKDFEL ASAQQRPDMV LRQRFRGLLR 350
PEDRTKDVLT KPRTNRFVKL AVMGLTVALG AAALAVVKSA LEWAPKFQLQ 400
LFP 403
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti79 – 791N → S.
Corresponds to variant rs36088178 [ dbSNP | Ensembl ].
VAR_052543

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 192192Missing in isoform 2.
VSP_008100Add
BLAST
Alternative sequencei1 – 11M → MPSGCYVPRSEPRLLPAPPP AGARVG in isoform 3.
VSP_031524
Alternative sequencei209 – 364156SAEVG…TKPRT → RYICVCISVCMHTHAHTPPH LKHSSQAERSFLIVLGGFVK FSPVVPVTSNLGNSVLGAFL GTVLFGGHSPSLEFTSSGER WIRYVCQGKMLRLLPQEKHK VLWDPVARRGRPTMGCFISQ VPKRRNIFLQIPCDVLFLLC LVGNVFLANASFFKIF in isoform 2.
VSP_008101Add
BLAST
Alternative sequencei365 – 40339Missing in isoform 2.
VSP_008102Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti117 – 1171E → G in BAC86808. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
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.3. human. [Q96BZ9-1]

Polymorphism databases

DMDMi34395569.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS13002.1. [Q96BZ9-1 ]
RefSeqi NP_653229.1. NM_144628.3. [Q96BZ9-1 ]
XP_005260718.1. XM_005260661.1. [Q96BZ9-1 ]
UniGenei Hs.590876.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
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 [» ]
ProteinModelPortali Q96BZ9.
SMRi Q96BZ9. Positions 25-305.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126139. 4 interactions.
IntActi Q96BZ9. 1 interaction.
STRINGi 9606.ENSP00000346139.

PTM databases

PhosphoSitei Q96BZ9.

Polymorphism databases

DMDMi 34395569.

Proteomic databases

MaxQBi Q96BZ9.
PaxDbi Q96BZ9.
PRIDEi Q96BZ9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000354200 ; ENSP00000346139 ; ENSG00000125875 . [Q96BZ9-1 ]
ENST00000461304 ; ENSP00000432280 ; ENSG00000125875 . [Q96BZ9-1 ]
GeneIDi 128637.
KEGGi hsa:128637.
UCSCi uc002wds.3. human. [Q96BZ9-1 ]

Organism-specific databases

CTDi 128637.
GeneCardsi GC20M000416.
HGNCi HGNC:16133. TBC1D20.
HPAi HPA043613.
MIMi 611663. gene.
615663. phenotype.
neXtProti NX_Q96BZ9.
Orphaneti 2510. Micro syndrome.
PharmGKBi PA25683.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5210.
HOGENOMi HOG000006927.
HOVERGENi HBG056376.
OMAi LECECDM.
OrthoDBi EOG7N63MJ.
PhylomeDBi Q96BZ9.
TreeFami TF105942.

Miscellaneous databases

ChiTaRSi TBC1D20. human.
GenomeRNAii 128637.
NextBioi 82406.
PROi Q96BZ9.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96BZ9.
Bgeei Q96BZ9.
CleanExi HS_TBC1D20.
Genevestigatori Q96BZ9.

Family and domain databases

InterProi IPR000195. Rab-GTPase-TBC_dom.
[Graphical view ]
Pfami PF00566. RabGAP-TBC. 1 hit.
[Graphical view ]
SMARTi SM00164. TBC. 1 hit.
[Graphical view ]
SUPFAMi SSF47923. SSF47923. 2 hits.
PROSITEi PS50086. TBC_RABGAP. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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. Cited for: INVOLVEMENT IN WARBM4.
  8. "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.

Entry informationi

Entry nameiTBC20_HUMAN
AccessioniPrimary (citable) accession number: Q96BZ9
Secondary accession number(s): A8K6I3
, B9A6M1, Q5JWQ7, Q6ZSY8, Q96NE1, Q9BYM7, Q9H140
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 29, 2003
Last sequence update: December 1, 2001
Last modified: September 3, 2014
This is version 98 of the entry and version 1 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

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
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi