Q96BZ9 (TBC20_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
TBC1 domain family member 20

Gene names

Name:	TBC1D20
Synonyms:	C20orf140

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	403 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May act as a GTPase-activating protein for Rab family protein(s).
Subunit structure	Directly interacts with the N-terminal amphipathic helix of hepatitis C virus (HCV) NS5A. Ref.5
Subcellular location	Membrane; Multi-pass membrane protein Potential.
Sequence similarities	Contains 1 Rab-GAP TBC domain.

Ontologies

Keywords
Biological process	Host-virus interaction
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Molecular function	GTPase activation
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	positive regulation of Rab GTPase activity Inferred from electronic annotation. Source: GOC virus-host interaction Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW intracellular Inferred from electronic annotation. Source: InterPro
Molecular_function	Rab 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 key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 403

403

TBC1 domain family member 20

PRO_0000208048

Regions

Transmembrane

238 – 258

21

Helical; Potential

Transmembrane

367 – 387

21

Helical; Potential

Domain

60 – 246

187

Rab-GAP TBC

Natural variations

Alternative sequence

1 – 192

192

Missing in isoform 2.

VSP_008100

Alternative sequence

1

1

M → MPSGCYVPRSEPRLLPAPPP AGARVG in isoform 3.

VSP_031524

Alternative sequence

209 – 364

156

SAEVG…TKPRT → RYICVCISVCMHTHAHTPPH LKHSSQAERSFLIVLGGFVK FSPVVPVTSNLGNSVLGAFL GTVLFGGHSPSLEFTSSGER WIRYVCQGKMLRLLPQEKHK VLWDPVARRGRPTMGCFISQ VPKRRNIFLQIPCDVLFLLC LVGNVFLANASFFKIF in isoform 2.

VSP_008101

Alternative sequence

365 – 403

39

Missing in isoform 2.

VSP_008102

Natural variant

79

1

N → S.
Corresponds to variant rs36088178 [ dbSNP | Ensembl ].

VAR_052543

Experimental info

Sequence conflict

117

1

E → G in BAC86808. Ref.1

Secondary structure

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403

Helix Strand Turn

Details...

Helix

26 – 40

15

Beta strand

42 – 44

3

Helix

47 – 55

9

Turn

57 – 60

4

Helix

63 – 73

11

Helix

89 – 92

4

Helix

96 – 104

9

Helix

105 – 109

5

Beta strand

112 – 114

3

Helix

116 – 136

21

Helix

146 – 157

12

Helix

159 – 171

13

Turn

172 – 175

4

Helix

176 – 178

3

Beta strand

180 – 182

3

Turn

184 – 186

3

Helix

187 – 191

5

Helix

192 – 199

8

Helix

201 – 207

7

Helix

215 – 217

3

Helix

218 – 222

5

Turn

223 – 228

6

Helix

232 – 244

13

Helix

249 – 260

12

Helix

262 – 266

5

Helix

274 – 280

7

Helix

288 – 301

14

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 70B011A33DEF527D	FASTA	403	45,855
	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
	Isoform 2 [UniParc]. Checksum: D2D5BE89785800C6	FASTA	172	19,381
	10 20 30 40 50 60 MPIIDQVNPE LHDFMQRYIC VCISVCMHTH AHTPPHLKHS SQAERSFLIV LGGFVKFSPV 70 80 90 100 110 120 VPVTSNLGNS VLGAFLGTVL FGGHSPSLEF TSSGERWIRY VCQGKMLRLL PQEKHKVLWD 130 140 150 160 170 PVARRGRPTM GCFISQVPKR RNIFLQIPCD VLFLLCLVGN VFLANASFFK IF
	Isoform 3 [UniParc]. Checksum: 6D826FCBCF5A491A	FASTA	428	48,382
	10 20 30 40 50 60 MPSGCYVPRS EPRLLPAPPP AGARVGALRS AQGDGPTSGH WDGGAEKADF NAKRKKKVAE 70 80 90 100 110 120 IHQALNSDPT DVAALRRMAI SEGGLLTDEI RRKVWPKLLN VNANDPPPIS GKNLRQMSKD 130 140 150 160 170 180 YQQVLLDVRR SLRRFPPGMP EEQREGLQEE LIDIILLILE RNPQLHYYQG YHDIVVTFLL 190 200 210 220 230 240 VVGERLATSL VEKLSTHHLR DFMDPTMDNT KHILNYLMPI IDQVNPELHD FMQSAEVGTI 250 260 270 280 290 300 FALSWLITWF GHVLSDFRHV VRLYDFFLAC HPLMPIYFAA VIVLYREQEV LDCDCDMASV 310 320 330 340 350 360 HHLLSQIPQD LPYETLISRA GDLFVQFPPS ELAREAAAQQ QAERTAASTF KDFELASAQQ 370 380 390 400 410 420 RPDMVLRQRF RGLLRPEDRT KDVLTKPRTN RFVKLAVMGL TVALGAAALA VVKSALEWAP KFQLQLFP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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.
[2]	"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].
[3]	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. , 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].
[4]	"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.
[5]	"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.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.

IPI

IPI00060314.
IPI00140315.
IPI00827616.

RefSeq

NP_653229.1. NM_144628.2.

UniGene

Hs.590876.

3D structure databases

PDBe
RCSB PDB
PDBj

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	[»]

ProteinModelPortal

Q96BZ9.

ModBase

Search...

Protein-protein interaction databases

STRING

9606.ENSP00000346139.

PTM databases

PhosphoSite

Q96BZ9.

Polymorphism databases

DMDM

34395569.

Proteomic databases

PaxDb

Q96BZ9.

PRIDE

Q96BZ9.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000354200; ENSP00000346139; ENSG00000125875.
ENST00000461304; ENSP00000432280; ENSG00000125875.

GeneID

128637.

KEGG

hsa:128637.

UCSC

uc002wds.3. human.

Organism-specific databases

CTD

128637.

GeneCards

GC20M000416.

HGNC

HGNC:16133. TBC1D20.

HPA

HPA043613.

MIM

611663. gene.

neXtProt

NX_Q96BZ9.

PharmGKB

PA25683.

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG5210.

HOGENOM

HOG000006927.

HOVERGEN

HBG056376.

OMA

ADFNAKR.

OrthoDB

EOG4XKV7C.

PhylomeDB

Q96BZ9.

Gene expression databases

ArrayExpress

Q96BZ9.

Bgee

Q96BZ9.

CleanEx

HS_TBC1D20.

Genevestigator

Q96BZ9.

GermOnline

ENSG00000125875. Homo sapiens.

Family and domain databases

InterPro

IPR000195. Rab-GTPase-TBC_dom.
[Graphical view]

Pfam

PF00566. RabGAP-TBC. 1 hit.
[Graphical view]

SMART

SM00164. TBC. 1 hit.
[Graphical view]

SUPFAM

SSF47923. RabGAP_TBC. 2 hits.

PROSITE

PS50086. TBC_RABGAP. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

TBC1D20. human.

GenomeRNAi

128637.

NextBio

82406.

SOURCE

Search...

Entry information

Entry name

TBC20_HUMAN

Accession

Primary (citable) accession number: Q96BZ9
Secondary accession number(s): A8K6I3 , Q5JWQ7, Q6ZSY8, Q96NE1, Q9BYM7, Q9H140

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 29, 2003
Last sequence update:	December 1, 2001
Last modified:	April 3, 2013
This is version 87 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.