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Protein

TBC1 domain family member 13

Gene

TBC1D13

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

May act as a GTPase-activating protein for Rab family protein(s).

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Names & Taxonomyi

Protein namesi
Recommended name:
TBC1 domain family member 13
Gene namesi
Name:TBC1D13
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:25571. TBC1D13.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134898118.

Polymorphism and mutation databases

BioMutaiTBC1D13.
DMDMi308153549.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 400400TBC1 domain family member 13PRO_0000208038Add
BLAST

Proteomic databases

EPDiQ9NVG8.
MaxQBiQ9NVG8.
PaxDbiQ9NVG8.
PeptideAtlasiQ9NVG8.
PRIDEiQ9NVG8.

PTM databases

iPTMnetiQ9NVG8.
PhosphoSiteiQ9NVG8.

Expressioni

Gene expression databases

BgeeiQ9NVG8.
CleanExiHS_TBC1D13.
ExpressionAtlasiQ9NVG8. baseline and differential.
GenevisibleiQ9NVG8. HS.

Organism-specific databases

HPAiHPA045865.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi120091. 2 interactions.
STRINGi9606.ENSP00000361731.

Structurei

3D structure databases

ProteinModelPortaliQ9NVG8.
SMRiQ9NVG8. Positions 211-385.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini35 – 345311Rab-GAP TBCPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 Rab-GAP TBC domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4567. Eukaryota.
COG5210. LUCA.
GeneTreeiENSGT00840000129860.
HOGENOMiHOG000006332.
HOVERGENiHBG058240.
InParanoidiQ9NVG8.
OMAiHERVVPS.
OrthoDBiEOG7SFHWN.
PhylomeDBiQ9NVG8.
TreeFamiTF105911.

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. 4 hits.
PROSITEiPS50086. TBC_RABGAP. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9NVG8-1) [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
MSSLHKSRIA DFQDVLKEPS IALEKLRELS FSGIPCEGGL RCLCWKILLN
60 70 80 90 100
YLPLERASWT SILAKQRELY AQFLREMIIQ PGIAKANMGV SREDVTFEDH
110 120 130 140 150
PLNPNPDSRW NTYFKDNEVL LQIDKDVRRL CPDISFFQRA TDYPCLLILD
160 170 180 190 200
PQNEFETLRK RVEQTTLKSQ TVARNRSGVT NMSSPHKNSV PSSLNEYEVL
210 220 230 240 250
PNGCEAHWEV VERILFIYAK LNPGIAYVQG MNEIVGPLYY TFATDPNSEW
260 270 280 290 300
KEHAEADTFF CFTNLMAEIR DNFIKSLDDS QCGITYKMEK VYSTLKDKDV
310 320 330 340 350
ELYLKLQEQN IKPQFFAFRW LTLLLSQEFL LPDVIRIWDS LFADDNRFDF
360 370 380 390 400
LLLVCCAMLM LIREQLLEGD FTVNMRLLQD YPITDVCQIL QKAKELQDSK
Length:400
Mass (Da):46,554
Last modified:October 5, 2010 - v3
Checksum:i9FD10CC4035ACC7F
GO
Isoform 2 (identifier: Q9NVG8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     182-306: Missing.

Show »
Length:275
Mass (Da):32,171
Checksum:i38AF7B7C367EAB75
GO
Isoform 3 (identifier: Q9NVG8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-181: Missing.

Note: No experimental confirmation available.
Show »
Length:219
Mass (Da):25,596
Checksum:i4D6EEB0F98BE741D
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti101 – 1011P → T in AAI50312 (PubMed:15489334).Curated
Sequence conflicti223 – 2231P → H in AAI50312 (PubMed:15489334).Curated
Sequence conflicti335 – 3351I → T in BAA91784 (PubMed:19077034).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti190 – 1901V → A.1 Publication
Corresponds to variant rs1572912 [ dbSNP | Ensembl ].
VAR_070804

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 181181Missing in isoform 3. 1 PublicationVSP_053994Add
BLAST
Alternative sequencei182 – 306125Missing in isoform 2. 1 PublicationVSP_039845Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB449899 mRNA. Translation: BAH16642.1.
AK001605 mRNA. Translation: BAA91784.1.
AK123828 mRNA. Translation: BAG53966.1.
AK289777 mRNA. Translation: BAF82466.1.
AL441992 Genomic DNA. Translation: CAI15410.1.
AL441992 Genomic DNA. Translation: CAI15411.1.
CH471090 Genomic DNA. Translation: EAW87832.1.
CH471090 Genomic DNA. Translation: EAW87833.1.
CH471090 Genomic DNA. Translation: EAW87835.1.
BC132817 mRNA. Translation: AAI32818.1.
BC136509 mRNA. Translation: AAI36510.1.
BC150311 mRNA. Translation: AAI50312.1.
CCDSiCCDS6911.1. [Q9NVG8-1]
CCDS69677.1. [Q9NVG8-2]
RefSeqiNP_001273701.1. NM_001286772.1. [Q9NVG8-2]
NP_060671.3. NM_018201.4. [Q9NVG8-1]
UniGeneiHs.3376.

Genome annotation databases

EnsembliENST00000223865; ENSP00000223865; ENSG00000107021. [Q9NVG8-2]
ENST00000372648; ENSP00000361731; ENSG00000107021. [Q9NVG8-1]
GeneIDi54662.
KEGGihsa:54662.
UCSCiuc010myj.5. human. [Q9NVG8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB449899 mRNA. Translation: BAH16642.1.
AK001605 mRNA. Translation: BAA91784.1.
AK123828 mRNA. Translation: BAG53966.1.
AK289777 mRNA. Translation: BAF82466.1.
AL441992 Genomic DNA. Translation: CAI15410.1.
AL441992 Genomic DNA. Translation: CAI15411.1.
CH471090 Genomic DNA. Translation: EAW87832.1.
CH471090 Genomic DNA. Translation: EAW87833.1.
CH471090 Genomic DNA. Translation: EAW87835.1.
BC132817 mRNA. Translation: AAI32818.1.
BC136509 mRNA. Translation: AAI36510.1.
BC150311 mRNA. Translation: AAI50312.1.
CCDSiCCDS6911.1. [Q9NVG8-1]
CCDS69677.1. [Q9NVG8-2]
RefSeqiNP_001273701.1. NM_001286772.1. [Q9NVG8-2]
NP_060671.3. NM_018201.4. [Q9NVG8-1]
UniGeneiHs.3376.

3D structure databases

ProteinModelPortaliQ9NVG8.
SMRiQ9NVG8. Positions 211-385.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120091. 2 interactions.
STRINGi9606.ENSP00000361731.

PTM databases

iPTMnetiQ9NVG8.
PhosphoSiteiQ9NVG8.

Polymorphism and mutation databases

BioMutaiTBC1D13.
DMDMi308153549.

Proteomic databases

EPDiQ9NVG8.
MaxQBiQ9NVG8.
PaxDbiQ9NVG8.
PeptideAtlasiQ9NVG8.
PRIDEiQ9NVG8.

Protocols and materials databases

DNASUi54662.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000223865; ENSP00000223865; ENSG00000107021. [Q9NVG8-2]
ENST00000372648; ENSP00000361731; ENSG00000107021. [Q9NVG8-1]
GeneIDi54662.
KEGGihsa:54662.
UCSCiuc010myj.5. human. [Q9NVG8-1]

Organism-specific databases

CTDi54662.
GeneCardsiTBC1D13.
H-InvDBHIX0008436.
HGNCiHGNC:25571. TBC1D13.
HPAiHPA045865.
MIMi616218. gene.
neXtProtiNX_Q9NVG8.
PharmGKBiPA134898118.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4567. Eukaryota.
COG5210. LUCA.
GeneTreeiENSGT00840000129860.
HOGENOMiHOG000006332.
HOVERGENiHBG058240.
InParanoidiQ9NVG8.
OMAiHERVVPS.
OrthoDBiEOG7SFHWN.
PhylomeDBiQ9NVG8.
TreeFamiTF105911.

Miscellaneous databases

ChiTaRSiTBC1D13. human.
GenomeRNAii54662.
PROiQ9NVG8.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NVG8.
CleanExiHS_TBC1D13.
ExpressionAtlasiQ9NVG8. baseline and differential.
GenevisibleiQ9NVG8. HS.

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. 4 hits.
PROSITEiPS50086. TBC_RABGAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

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.
  3. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [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), VARIANT ALA-190.
    Tissue: Brain and Testis.
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiTBC13_HUMAN
AccessioniPrimary (citable) accession number: Q9NVG8
Secondary accession number(s): A7E2E7
, B3KW04, B9EGJ8, Q5T270, Q5T271
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 16, 2004
Last sequence update: October 5, 2010
Last modified: July 6, 2016
This is version 111 of the entry and version 3 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.