TBC1D3 Gene
protein-coding GIFtS: 39
GCID: GC17M036338
|
|
TBC1 domain family, member 3
| |
Aliases
for TBC1D3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| TBC1 Domain Family, Member 31 2 | | Rab GTPase-Activating Protein PRC172 3 | | PRC171 2 3 5 | | DKFZp434P22351 | | TBC1D3A1 2 3 5 | | TBC1D3F2 | | Prostate Cancer Gene 17 Protein2 3 | | TBC1 Domain Family Member 32 | | Protein TRE17-Alpha2 3 | | TBC1 Domain Family, Member 3F2 |
Export aliases for TBC1D3 gene to outside databasesPrevious GC identifers: GC17P036015 GC17M036712 GC17P033358 GC17M033413 GC17M033592 GC17M033594 |
Summaries
for TBC1D3 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: TBC3A_HUMAN, Q8IZP1Function: Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11
|
Genomic Views
for TBC1D3 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010783.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the TBC1D3 gene promoter:
STAT1 GATA-3 STAT4 STAT1beta STAT5A STAT1alpha c-Rel STAT2 STAT3 Hlf
Other transcription factors
Search SABiosciences Chromatin IP Primers for TBC1D3
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D3 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17q12 Ensembl cytogenetic band: 17q12 HGNC cytogenetic band: 17q12TBC1D3 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17M036338: view genomic region
(about GC identifiers)
Start:
|
36,337,528 bp from pter |
End:
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36,358,166 bp from pter |
Size:
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20,639 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr17+,PATCHES 34,665,438-34,676,553 |
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Proteins
for TBC1D3 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: TBC3A_HUMAN, Q8IZP1 (See
protein sequence)Recommended Name: TBC1 domain family member 3 Size: 549 amino acids; 62168 Da
Secondary accessions: A6NGX2 Q9H0B9 Q9UDD4Explore the universe of human proteins at neXtProt for TBC1D3: NX_Q8IZP1
TBC1D3 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001116863.2
ENSEMBL proteins: ENSP00000428847 ENSP00000427748 ENSP00000429762 ENSP00000346691 ENSP00000429926 ENSP00000439621 ENSP00000339993
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005622 | intracellular |
IEA | -- |
TBC1D3 for ontologies About GeneDecksing
TBC1D3 Antibody Products:
Assay Products for TBC1D3: |
Protein
Domains /
Families
for TBC1D3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TBC1D3 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q8IZP1ProtoNet protein and cluster: Q8IZP1 1 Blocks protein family: IPB000195 RabGAP/TBC domain
UniProtKB/Swiss-Prot: TBC3A_HUMAN, Q8IZP1Similarity: Contains 1 Rab-GAP TBC domain |
Function
for TBC1D3 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: TBC3A_HUMAN, Q8IZP1Function: Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D3
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D3 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005097 | Rab GTPase activator activity |
IEA | -- |
TBC1D3 for ontologies About GeneDecksing
|
Pathways & Interactions
for TBC1D3 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TBC1D3
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
2 Interacting proteins for TBC1D3 (ENSP000003466914) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for TBC1D3 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for TBC1D3
Search CenterWatch for drugs/clinical trials and news about TBC1D3 / TBC3A
|
Transcripts
for TBC1D3 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for TBC1D3 gene: NM_001123391.2 Unigene Cluster for TBC1D3: TBC1 domain family, member 3 Hs.735975 [show with all ESTs]Unigene Representative Sequence: BC0477399 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000518551(uc010wdl.1) ENST00000520599 ENST00000517507(uc002hpq.2)
ENST00000524102(uc010wdm.1) ENST00000354664(uc002hpp.2 uc010cvj.1)
ENST00000519496 ENST00000519532(uc002hox.2) ENST00000537432 ENST00000339023
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D3
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D3
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: TBC1D3 (NM_015279) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TBC1D3 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat TBC1D3 |
Additional cDNA sequence: AK302064.1 AK303259.1 AK313329.1 BC047739.1 12 DOTS entries: DT.100824474 DT.212833 DT.97858652 DT.100824478 DT.120994583 DT.95298566 DT.102843582 DT.120994624 DT.120994639 DT.91767097 DT.92042803 DT.97771291
GeneLoc Exon Structure
|
Expression
for TBC1D3 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| TBC1D3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See TBC1D3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TBC1D3
SOURCE GeneReport for Unigene cluster: Hs.735975
UniProtKB/Swiss-Prot: TBC3A_HUMAN, Q8IZP1Tissue specificity: Expressed in liver, skeletal muscle, kidney, pancreas, spleen, testis, ovary, small intestine andperipheral blood leukocytes. Overexpressed in prostate cancers
SABiosciences Custom PCR Arrays for TBC1D3
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TBC1D3
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat TBC1D3 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBC1D3 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBC1D3 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D3 |
Orthologs
for TBC1D3 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for TBC1D3 gene from 5/16 species (see all 16) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
USP6NL6 |
Uncharacterized protein |
26(a) |
1 → many |
5(17180663-17259945) |
lizard
(Anolis carolinensis) |
Reptilia |
-- |
-- |
32(a) |
1 → many |
1(74862925-74883702) |
zebrafish
(Danio rerio) |
Actinopterygii |
si:ch211-288d18.16si:dkeyp-19e1.36 |
si:dkeyp-19e1.3 |
20(a)17(a) |
many ↔ manymany ↔ many |
7(50477638-50513235) 25(24844950-24903338) |
fruit fly
(Drosophila melanogaster) |
Insecta |
RN-tre6 |
tre oncogene-related protein |
16(a) |
1 → many |
2R(9872320-9878215) |
worm
(Caenorhabditis elegans) |
Secernentea |
tbc-176 |
TBC (Tre-2/Bub2/Cdc16) domain family member (tbc-1... |
11(a) |
1 → many |
II(12694340-12725413) |
ENSEMBL Gene Tree for TBC1D3 (if available)
TreeFam Gene Tree for TBC1D3 (if available) |
Paralogs
for TBC1D3 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for TBC1D3 gene
- TBC1D3F1 2 TBC1D3G1 2 TBC1D3H1 2 TBC1D3C1 2 TBC1D3B1 2 SGSM32 TBC1D2B2 GRTP12
- TBC1D10C2 TBC1D10B2 TBC1D262 ENSG000002487512 TBC1D10A2 TBC1D22 USP6NL2 TBC1D282
18/22 SIMAP similar genes for TBC1D3 using alignment to 13 protein entries: TBC3A_HUMAN (see all proteins)
(see all similar genes):TBC1D3F TBC1D3H NPEPPSL1 TBC1D3B NPEPPS TBC1D3G
TBC1D3C USP6-short TRE17 tre USP6 CDH11/USP6 fusion oncogene
LOC440419 ENPEP TBC1D26 TBC1D28 ANPEP TRHDE
TBC1D3 for paralogs About GeneDecksing
5/18 Pseudogenes.org Pseudogenes for TBC1D3 (see all 18)
PGOHUM00000256803 PGOHUM00000256804 PGOHUM00000256806 PGOHUM00000256807 PGOHUM00000256808
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Genomic Variants
for TBC1D3 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 17 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for TBC1D3 (36337528 - 36358166 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 12 variations for TBC1D3
11 CNVs: 77584 77586 88451 72914 5005 88450 77587 88449 88448 4034 77585
1 Inversion: 37189 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBC1D3 |
|
Disorders
/ Diseases
for TBC1D3 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
TBC1D3 for disorders About GeneDecksing
OMIM gene information: 607741
OMIM disorders: --
3  diseases for TBC1D3: About MalaCardsprostate cancer prostatitis malaria
Export disorders for TBC1D3 gene to outside databases
|
Publications
for TBC1D3 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for TBC1D3 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with TBC1D3) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The Tre2 (USP6) oncogene is a hominoid-specific gene. (PubMed id 12604796)1, 2, 3 Paulding C.A.... Haber D.A. (2003)
- PRC17, a novel oncogene encoding a Rab GTPase-activating protein, is amplified in prostate cancer. (PubMed id 12359748)1, 2, 3 Pei L.... Li J. (2002)
- TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12. (PubMed id 16863688)1, 3 Hodzic D....Stahl P.D. (2006)
- DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)1, 2 Zody M.C.... Nusbaum C. (2006)
- Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
- Human TRE17 oncogene is generated from a family of homologous polymorphic sequences by single-base changes. (PubMed id 8471161)1, 2 Onno M.... Hill M. (1993)
- Identification of novel sequences in the repertoire of hypervariable TRE17 genes from immortalized nonmalignant and malignant human keratinocytes. (PubMed id 8406013)1, 2 Onno M.... Hill M. (1993)
- Ubiquitination and degradation of the hominoid-specifi c oncoprotein TBC1D3 is mediated by CUL7 E3 ligase. (PubMed id 23029530)1 Kong C....Stahl P.D. (2012)
- TBC1D3, a hominoid-specific gene, delays IRS-1 degrada tion and promotes insulin signaling by modulating p70 S6 kinase activity. (PubMed id 22348058)1 Wainszelbaum M.J....Stahl P.D. (2012)
- Personalized copy number and segmental duplication ma ps using next-generation sequencing. (PubMed id 19718026)1 Alkan C....Eichler E.E. (2009)
|
External Searches for TBC1D3 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing TBC1D3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TBC1D3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TBC1D3 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for TBC1D3 gene:
Search GeneIP for patents involving TBC1D3
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for TBC1D3 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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