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Protein

TBC1 domain family member 3

Gene

TBC1D3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11.1 Publication

GO - Molecular functioni

Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Names & Taxonomyi

Protein namesi
Recommended name:
TBC1 domain family member 3
Alternative name(s):
Prostate cancer gene 17 protein
Protein TRE17-alpha
Rab GTPase-activating protein PRC17
Gene namesi
Name:TBC1D3
Synonyms:PRC17, TBC1D3A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:19031. TBC1D3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

PharmGKBiPA134941179.

Polymorphism and mutation databases

BioMutaiTBC1D3.
DMDMi294862542.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 549549TBC1 domain family member 3PRO_0000208025Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi318 – 3181S-palmitoyl cysteine1 Publication
Lipidationi325 – 3251S-palmitoyl cysteine1 Publication

Post-translational modificationi

Ubiquitinated by a CUL7-based E3 ligase, which leads to proteasomal degradation.1 Publication
Palmitoylation is required for membrane localization and protects TBC1D3 from ubiquitination.1 Publication

Keywords - PTMi

Lipoprotein, Palmitate, Ubl conjugation

Proteomic databases

PaxDbiQ8IZP1.
PRIDEiQ8IZP1.

PTM databases

iPTMnetiQ8IZP1.

Expressioni

Tissue specificityi

Expressed in liver, skeletal muscle, kidney, pancreas, spleen, testis, ovary, small intestine and peripheral blood leukocytes. Overexpressed in prostate cancers.2 Publications

Gene expression databases

BgeeiQ8IZP1.
CleanExiHS_TBC1D3.
GenevisibleiQ8IZP1. HS.

Organism-specific databases

HPAiHPA046969.
HPA047745.
HPA052553.

Interactioni

Protein-protein interaction databases

IntActiQ8IZP1. 2 interactions.
MINTiMINT-4724698.
STRINGi9606.ENSP00000329256.

Structurei

3D structure databases

ProteinModelPortaliQ8IZP1.
SMRiQ8IZP1. Positions 78-314.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini101 – 293193Rab-GAP TBCPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG1102. Eukaryota.
COG5210. LUCA.
GeneTreeiENSGT00760000119202.
HOGENOMiHOG000293177.
HOVERGENiHBG061154.
InParanoidiQ8IZP1.
TreeFamiTF318099.

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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IZP1-1) [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
MDVVEVAGSW WAQEREDIIM KYEKGHRAGL PEDKGPKPFR SYNNNVDHLG
60 70 80 90 100
IVHETELPPL TAREAKQIRR EISRKSKWVD MLGDWEKYKS SRKLIDRAYK
110 120 130 140 150
GMPMNIRGPM WSVLLNTEEM KLKNPGRYQI MKEKGKRSSE HIQRIDRDVS
160 170 180 190 200
GTLRKHIFFR DRYGTKQREL LHILLAYEEY NPEVGYCRDL SHIAALFLLY
210 220 230 240 250
LPEEDAFWAL VQLLASERHS LQGFHSPNGG TVQGLQDQQE HVVATSQPKT
260 270 280 290 300
MGHQDKKDLC GQCSPLGCLI RILIDGISLG LTLRLWDVYL VEGEQALMPI
310 320 330 340 350
TRIAFKVQQK RLTKTSRCGP WARFCNRFVD TWARDEDTVL KHLRASMKKL
360 370 380 390 400
TRKKGDLPPP AKPEQGSSAS RPVPASRGGK TLCKGDRQAP PGPPARFPRP
410 420 430 440 450
IWSASPPRAP RSSTPCPGGA VREDTYPVGT QGVPSPALAQ GGPQGSWRFL
460 470 480 490 500
QWNSMPRLPT DLDVEGPWFR HYDFRQSCWV RAISQEDQLA PCWQAEHPAE
510 520 530 540
RVRSAFAAPS TDSDQGTPFR ARDEQQCAPT SGPCLCGLHL ESSQFPPGF
Length:549
Mass (Da):62,187
Last modified:January 7, 2015 - v6
Checksum:i12F56291F685F06E
GO
Isoform 2 (identifier: Q8IZP1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     255-291: DKKDLCGQCSPLGCLIRILIDGISLGLTLRLWDVYLV → SASRRRPGVARGHVFATGSLIPGPGMRTLCSSILGPL
     292-549: Missing.

Note: No experimental confirmation available.
Show »
Length:291
Mass (Da):33,382
Checksum:iA4C79962FC03A9BB
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti117 – 1171T → I in AAN33117 (PubMed:12359748).Curated
Sequence conflicti122 – 1221L → M in AAH78140 (PubMed:15489334).Curated
Sequence conflicti137 – 1371R → K in CAB66794 (PubMed:11230166).Curated
Sequence conflicti137 – 1371R → K in BAF82061 (PubMed:14702039).Curated
Sequence conflicti354 – 3585KGDLP → QGDLQ in BAF82061 (PubMed:14702039).Curated
Sequence conflicti354 – 3541K → Q in AAN33117 (PubMed:12359748).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti526 – 5261Q → P.2 Publications
Corresponds to variant rs9078 [ dbSNP | Ensembl ].
VAR_063088

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei255 – 29137DKKDL…DVYLV → SASRRRPGVARGHVFATGSL IPGPGMRTLCSSILGPL in isoform 2. 1 PublicationVSP_056829Add
BLAST
Alternative sequencei292 – 549258Missing in isoform 2. 1 PublicationVSP_056830Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF540953 mRNA. Translation: AAN33117.1.
AL136860 mRNA. Translation: CAB66794.1.
AK289372 mRNA. Translation: BAF82061.1.
AC244154 Genomic DNA. No translation available.
BC078140 mRNA. Translation: AAH78140.1.
X71377 Genomic DNA. Translation: CAB94197.1.
CCDSiCCDS45658.1. [Q8IZP1-1]
RefSeqiNP_001001418.5. NM_001001418.6. [Q8IZP1-1]
NP_001116863.3. NM_001123391.3. [Q8IZP1-1]
UniGeneiHs.105891.
Hs.454716.
Hs.735975.
Hs.743999.

Genome annotation databases

EnsembliENST00000620215; ENSP00000478683; ENSG00000274611. [Q8IZP1-1]
GeneIDi414060.
729873.
KEGGihsa:414060.
hsa:729873.
UCSCiuc032ffp.2. human. [Q8IZP1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF540953 mRNA. Translation: AAN33117.1.
AL136860 mRNA. Translation: CAB66794.1.
AK289372 mRNA. Translation: BAF82061.1.
AC244154 Genomic DNA. No translation available.
BC078140 mRNA. Translation: AAH78140.1.
X71377 Genomic DNA. Translation: CAB94197.1.
CCDSiCCDS45658.1. [Q8IZP1-1]
RefSeqiNP_001001418.5. NM_001001418.6. [Q8IZP1-1]
NP_001116863.3. NM_001123391.3. [Q8IZP1-1]
UniGeneiHs.105891.
Hs.454716.
Hs.735975.
Hs.743999.

3D structure databases

ProteinModelPortaliQ8IZP1.
SMRiQ8IZP1. Positions 78-314.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8IZP1. 2 interactions.
MINTiMINT-4724698.
STRINGi9606.ENSP00000329256.

PTM databases

iPTMnetiQ8IZP1.

Polymorphism and mutation databases

BioMutaiTBC1D3.
DMDMi294862542.

Proteomic databases

PaxDbiQ8IZP1.
PRIDEiQ8IZP1.

Protocols and materials databases

DNASUi414059.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000620215; ENSP00000478683; ENSG00000274611. [Q8IZP1-1]
GeneIDi414060.
729873.
KEGGihsa:414060.
hsa:729873.
UCSCiuc032ffp.2. human. [Q8IZP1-1]

Organism-specific databases

CTDi414060.
729873.
GeneCardsiTBC1D3.
HGNCiHGNC:19031. TBC1D3.
HPAiHPA046969.
HPA047745.
HPA052553.
MIMi607741. gene.
neXtProtiNX_Q8IZP1.
PharmGKBiPA134941179.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1102. Eukaryota.
COG5210. LUCA.
GeneTreeiENSGT00760000119202.
HOGENOMiHOG000293177.
HOVERGENiHBG061154.
InParanoidiQ8IZP1.
TreeFamiTF318099.

Miscellaneous databases

ChiTaRSiTBC1D3. human.
PROiQ8IZP1.
SOURCEiSearch...

Gene expression databases

BgeeiQ8IZP1.
CleanExiHS_TBC1D3.
GenevisibleiQ8IZP1. 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. 1 hit.
PROSITEiPS50086. TBC_RABGAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "PRC17, a novel oncogene encoding a Rab GTPase-activating protein, is amplified in prostate cancer."
    Pei L., Peng Y., Yang Y., Ling X.B., Van Eyndhoven W.G., Nguyen K.C., Rubin M., Hoey T., Powers S., Li J.
    Cancer Res. 62:5420-5424(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, VARIANT PRO-526.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Testis.
  3. "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] (ISOFORM 1), VARIANT PRO-526.
    Tissue: Adipose tissue.
  4. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    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 2).
    Tissue: Brain.
  6. "Human TRE17 oncogene is generated from a family of homologous polymorphic sequences by single-base changes."
    Onno M., Nakamura T., Mariage-Samson R., Hillova J., Hill M.
    DNA Cell Biol. 12:107-118(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-52.
  7. "Identification of novel sequences in the repertoire of hypervariable TRE17 genes from immortalized nonmalignant and malignant human keratinocytes."
    Onno M., Nakamura T., Hillova J., Hill M.
    Gene 131:209-215(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-52.
    Tissue: Placenta.
  8. Cited for: TISSUE SPECIFICITY.
  9. Cited for: MISCELLANEOUS, COPY NUMBER VARIATION.
  10. "Ubiquitination and degradation of the hominoid-specific oncoprotein TBC1D3 is regulated by protein palmitoylation."
    Kong C., Lange J.J., Samovski D., Su X., Liu J., Sundaresan S., Stahl P.D.
    Biochem. Biophys. Res. Commun. 434:388-393(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: PALMITOYLATION AT CYS-318 AND CYS-325, UBIQUITINATION, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiTBC3A_HUMAN
AccessioniPrimary (citable) accession number: Q8IZP1
Secondary accession number(s): A6NGX2
, A8K007, Q6DCB4, Q9H0B9, Q9UDD4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: January 7, 2015
Last modified: June 8, 2016
This is version 120 of the entry and version 6 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

Miscellaneous

TBC1D3 is encoded by a collection of very similar paralogs with multiple copies of each paralog, some human genomes encoding well over 50 copies depending on ethnic origin of the donor.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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.