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Aliases for TBC1D3 Gene
Aliases for TBC1D3 Gene
External Ids for TBC1D3 Gene
- HGNC: 19031
- Entrez Gene: 729873
- Ensembl: ENSG00000274611
- OMIM: 607741
- UniProtKB: Q8IZP1
Previous GeneCards Identifiers for TBC1D3 Gene
- GC17P036015
- GC17M036712
- GC17P033358
- GC17M033413
- GC17M033592
- GC17M033594
- GC17M036338
Summaries for TBC1D3 Gene
GeneCards Summary for TBC1D3 Gene
TBC1D3 (TBC1 Domain Family Member 3) is a Protein Coding gene. Diseases associated with TBC1D3 include Prostate Cancer. Among its related pathways are TBC/RABGAPs and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D3C.
UniProtKB/Swiss-Prot Summary for TBC1D3 Gene
-
Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11.
Additional gene information for TBC1D3 Gene
- HGNC(19031)
- Entrez Gene(729873)
- Ensembl(ENSG00000274611)
- OMIM(607741)
- UniProtKB(Q8IZP1)
- Open Targets Platform(ENSG00000274611)
- Search for TBC1D3 at DataMed
- Search for TBC1D3 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBC1D3 Gene
Genomics for TBC1D3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TBC1D3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TBC1D3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBC1D3
- Top Transcription factor binding sites by QIAGEN in the TBC1D3 gene promoter:
-
- c-Rel
- GATA-3
- Hlf
- STAT1
- STAT1alpha
- STAT1beta
- STAT2
- STAT3
- STAT4
- STAT5A
Genomic Locations for TBC1D3 Gene
Genomic Locations for TBC1D3 Gene
- chr17:38,181,476-38,192,555
- (GRCh38/hg38)
- Size:
- 11,080 bases
- Orientation:
- Minus strand
- chr17:36,337,528-36,358,166
- (GRCh37/hg19)
- Size:
- 20,639 bases
- Orientation:
- Minus strand
Genomic View for TBC1D3 Gene
Genes around TBC1D3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q12 by HGNC
- 17q12 by Entrez Gene
- 17q12 by Ensembl
TBC1D3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TBC1D3 Gene
Proteins for TBC1D3 Gene
-
Protein details for TBC1D3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8IZP1-TBC3A_HUMAN
- Recommended name:
- TBC1 domain family member 3
- Protein Accession:
- Q8IZP1
- A6NGX2
- A8K007
- Q6DCB4
- Q9H0B9
- Q9UDD4
Protein attributes for TBC1D3 Gene
- Size:
- 549 amino acids
- Molecular mass:
- 62187 Da
- Quaternary structure:
- No Data Available
- 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.
Protein Expression for TBC1D3 Gene
Post-translational modifications for TBC1D3 Gene
- Ubiquitinated by a CUL7-based E3 ligase, which leads to proteasomal degradation.
- Palmitoylation is required for membrane localization and protects TBC1D3 from ubiquitination.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for TBC1D3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for TBC1D3
- Invitrogen Antibodies for TBC1D3 (AFLGC-TBC1D3)
-
Boster Bio Antibodies for TBC1D3
-
Santa Cruz Biotechnology (SCBT) Antibodies for TBC1D3
Protein Products
-
OriGene Purified Proteins for TBC1D3
- Search Origene for MassSpec and Protein Over-expression Lysates for TBC1D3
- Origene Custom Protein Services for TBC1D3
- antibodies-online: Show 4 available TBC1D3 Proteins ranked by validation data
- Compare Top TBC1D3 Proteins
-
Quality Products:
Assay Products
-
Boster Bio ELISA Kits for TBC1D3
No data available for DME Specific Peptides for TBC1D3 Gene
Domains & Families for TBC1D3 Gene
Gene Families for TBC1D3 Gene
- Human Protein Atlas (HPA):
-
- Predicted membrane proteins
Protein Domains for TBC1D3 Gene
- InterPro:
- Blocks:
-
- RabGAP/TBC domain
- ProtoNet:
Suggested Antigen Peptide Sequences for TBC1D3 Gene
- GenScript: Design optimal peptide antigens:
-
- TBC1 domain family, member 3 (B9A6J9_HUMAN)
- TBC1D3 protein (Q6DCB4_HUMAN)
- Rab GTPase-activating protein PRC17 (TBC3A_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TBC1D3 Gene
Function for TBC1D3 Gene
Molecular function for TBC1D3 Gene
- UniProtKB/Swiss-Prot Function:
- Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11.
Phenotypes From GWAS Catalog for TBC1D3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005096 | GTPase activator activity | IBA | 21873635 |
| GO:0017137 | Rab GTPase binding | IBA | 21873635 |
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TBC1D3 - Select products 50% OFF >
- * TBC1D3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TBC1D3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TBC1D3
-
Santa Cruz Biotechnology (SCBT) CRISPR for TBC1D3
miRNA for TBC1D3 Gene
- miRTarBase miRNAs that target TBC1D3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TBC1D3
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Clone Products
- Applied Biological Materials (abm): Clones for TBC1D3 - Select products 50% OFF >
- * TBC1D3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TBC1D3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TBC1D3
Cell Line Products
-
Horizon Cell Lines for TBC1D3
No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D3 Gene
Localization for TBC1D3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TBC1D3 Gene
- Cell membrane. Lipid-anchor. Note=Associated with lipid rafts.
- Vesicles (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0031901 | early endosome membrane | TAS | -- |
No data available for Subcellular locations from COMPARTMENTS for TBC1D3 Gene
Pathways & Interactions for TBC1D3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Vesicle-mediated transport | ||
| 2 | TBC/RABGAPs | ||
Pathways by source for TBC1D3 Gene
3 Reactome pathways for TBC1D3 Gene
Interacting Proteins for TBC1D3 Gene
GPS-Prot Interaction Network for TBC1D3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006886 | intracellular protein transport | IBA | 21873635 |
| GO:0090630 | activation of GTPase activity | IBA | 21873635 |
| GO:1902017 | NOT regulation of cilium assembly | IMP | 17646400 |
No data available for SIGNOR curated interactions for TBC1D3 Gene
Transcripts for TBC1D3 Gene
mRNA/cDNA for TBC1D3 Gene
- 1 REFSEQ mRNAs :
- 5 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000620215 2063 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TBC1D3 - Select products 50% OFF >
- * TBC1D3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TBC1D3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TBC1D3
-
Santa Cruz Biotechnology (SCBT) CRISPR for TBC1D3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TBC1D3
- Browse OriGene Inhibitory RNA Products For TBC1D3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D3
Clone Products
- Applied Biological Materials (abm): Clones for TBC1D3 - Select products 50% OFF >
- * TBC1D3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TBC1D3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TBC1D3
Relevant External Links for TBC1D3 Gene
- GeneLoc Exon Structure for
- TBC1D3
Expression for TBC1D3 Gene
This gene is overexpressed in Adipocyte (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TBC1D3 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBC1D3
SOURCE GeneReport for Unigene cluster for TBC1D3 Gene:
Hs.735975mRNA Expression by UniProt/SwissProt for TBC1D3 Gene:
Q8IZP1-TBC3A_HUMAN
Tissue specificity:
Expressed in liver, skeletal muscle, kidney, pancreas, spleen, testis, ovary, small intestine and peripheral blood leukocytes. Overexpressed in prostate cancers.
Primer Products
-
OriGene qPCR primer pairs for TBC1D3
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D3 Gene
Orthologs for TBC1D3 Gene
No data available for Orthologs for TBC1D3 Gene
Paralogs for TBC1D3 Gene
Paralogs for TBC1D3 Gene
- TBC1D3C 5
- TBC1D3I 5
- TBC1D3G 5
- TBC1D3H 5
- TBC1D3K 5
- TBC1D3L 5
- TBC1D3D 5
- TBC1D3E 5
- TBC1D3B 5
- TBC1D3F 5
- USP6NL 5
- TBC1D9B 5
- TBC1D8B 5
- TBC1D8 5
- TBC1D9 5
- TBC1D26 5
- TBC1D10B 5
- EVI5L 5
- SGSM3 5
- TBC1D10A 5
- EVI5 5
- TBC1D14 5
- TBC1D25 5
- SGSM1 5
- TBC1D5 5
- TBC1D1 5
- RABGAP1 5
- TBC1D16 5
- TBC1D10C 5
- TBC1D12 5
- TBC1D2 5
- SGSM2 5
- TBC1D4 5
- TBC1D15 5
- TBC1D17 5
- TBC1D2B 5
- TBC1D22B 5
- GRTP1 5
- ENSG00000248751 5
- RABGAP1L 5
- TBC1D28 5
- TBC1D22A 5
- TBCK 5
- TBC1D30 5
- ENSG00000288591 5
- TBC1D13 5
- TBC1D21 5
- TBC1D3C 30
- TBC1D3B 30
- TBC1D3F 30
- LOC102723859 30
- LOC101060389 30
- LOC101060376 30
- LOC101060321 30
- LOC101060351 30
- LOC102724862 30
- TBC1D3H 30
(16) SIMAP similar genes for TBC1D3 Gene using alignment to 7 proteins:
- TBC3A_HUMAN
- A6NDL0_HUMAN
- B9A6J9_HUMAN
- E5RGJ9_HUMAN
- F6U074_HUMAN
- H0YB77_HUMAN
- Q6DCB4_HUMAN
Variants for TBC1D3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBC1D3 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| VAR_063088 | - | p.Gln526Pro |
Gene Damage Index Score:
0.01;
0.33% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TBC1D3 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- TBC1D3
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D3 Gene
Disorders for TBC1D3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| prostate cancer |
|
|
Search TBC1D3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for TBC1D3
No data available for UniProtKB/Swiss-Prot and Genatlas for TBC1D3 Gene
Publications for TBC1D3 Gene
- The Tre2 (USP6) oncogene is a hominoid-specific gene. (PMID: 12604796) Paulding CA … Haber DA (Proceedings of the National Academy of Sciences of the United States of America 2003) 2 3 4
- PRC17, a novel oncogene encoding a Rab GTPase-activating protein, is amplified in prostate cancer. (PMID: 12359748) Pei L … Li J (Cancer research 2002) 2 3 4
- Ubiquitination and degradation of the hominoid-specific oncoprotein TBC1D3 is regulated by protein palmitoylation. (PMID: 23578663) Kong C … Stahl PD (Biochemical and biophysical research communications 2013) 3 4
- DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 3 4
- TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12. (PMID: 16863688) Hodzic D … Stahl PD (Genomics 2006) 2 3
ExternalLinks
Products for TBC1D3 Gene
- Custom Antibody ServicesOriGene Antibodies for TBC1D3
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for TBC1D3
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- Origene Custom Protein Services for TBC1D3
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- OriGene qPCR primer pairs for TBC1D3
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Invitrogen Antibodies for TBC1D3 (AFLGC-TBC1D3)
- VectorBuilder Custom and pre-made DNA vectors for TBC1D3 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for TBC1D3 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for TBC1D3 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for TBC1D3 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for TBC1D3
- antibodies-online: Show 19 available TBC1D3 Antibodies ranked by validation data
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- antibodies-online: Search results for available TBC1D3 related products ranked by validation data
- antibodies-online: Show 4 available TBC1D3 Proteins ranked by validation data
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- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for TBC1D3
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TBC1D3
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D3
Sources for TBC1D3 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
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- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
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- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
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- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
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- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
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- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB