TBC1D3C Gene
protein-coding GIFtS: 39
GCID: GC17M034580
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|
TBC1 domain family, member 3C
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Aliases
for TBC1D3C 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 3C1 2 | | TBC1D3D2 3 | | MGC449031 | | Rab GTPase-Activating Protein PRC172 | | TBC1 Domain Family Member 3C-Like Protein ENSP000003417422 | | TBC1 Domain Family Member 3C/3D2 |
Export aliases for TBC1D3C gene to outside databasesPrevious GC identifer: GC17M031606 |
Summaries
for TBC1D3C gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for TBC1D3C:
This gene represents one of at least 8 paralogs of TBC1D3 gene found on chromosome 17. These paralogs appear to bedifferentially expressed in human tissues. The proteins encoded by this gene family contain a TBC (Tre-2, Bub2p, andCdc16p) domain, which is found in proteins involved in RAB GTPase signaling and vesicle trafficking. (provided byRefSeq, May 2011)
UniProtKB/Swiss-Prot: TBC3C_HUMAN, Q6IPX1Function: Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity)
|
Genomic Views
for TBC1D3C 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_010799.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the TBC1D3C gene promoter:
C/EBPbeta Pbx1a CUTL1 LCR-F1 C/EBPalpha MEF-2A MZF-1 HSF2 c-Myb aMEF-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for TBC1D3C
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D3C |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17q12 Ensembl cytogenetic band: 17q12 HGNC cytogenetic band: 17q21.1TBC1D3C 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 GC17M034580: view genomic region
(about GC identifiers)
Start:
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34,580,902 bp from pter |
End:
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34,757,050 bp from pter |
Size:
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176,149 bases |
Orientation:
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minus strand |
1 alternative location:
| Chr17-,PATCHES 34,595,250-34,606,169 |
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Proteins
for TBC1D3C 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: TBC3C_HUMAN, Q6IPX1 (See
protein sequence)Recommended Name: TBC1 domain family member 3C Size: 549 amino acids; 62251 DaExplore the universe of human proteins at neXtProt for TBC1D3C: NX_Q6IPX1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q6IPX1
TBC1D3C Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001001418.3
ENSEMBL proteins: ENSP00000337671 ENSP00000390761 ENSP00000468595 ENSP00000308718 ENSP00000399291
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 | -- |
TBC1D3C for ontologies About GeneDecksing
TBC1D3C Antibody Products:
Assay Products for TBC1D3C: |
Protein
Domains /
Families
for TBC1D3C gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TBC1D3C for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q6IPX1ProtoNet protein and cluster: Q6IPX1 1 Blocks protein family: IPB000195 RabGAP/TBC domain
UniProtKB/Swiss-Prot: TBC3C_HUMAN, Q6IPX1Similarity: Contains 1 Rab-GAP TBC domain |
Function
for TBC1D3C 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: TBC3C_HUMAN, Q6IPX1Function: Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity)
Clone
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D3C |
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 | -- |
TBC1D3C for ontologies About GeneDecksing
|
Pathways & Interactions
for TBC1D3C 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:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TBC1D3C
|
Drugs & Compounds
for TBC1D3C 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 TBC1D3C
Search CenterWatch for drugs/clinical trials and news about TBC1D3C / TBC3C
|
Transcripts
for TBC1D3C 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 TBC1D3C gene: NM_001001418.4 Unigene Cluster for TBC1D3C: TBC1 domain family, member 3C Hs.454716 [show with all ESTs]Unigene Representative Sequence: AK0953858 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000336331 ENST00000398688 ENST00000457979(uc002hlk.2) ENST00000591555
ENST00000585570 ENST00000588590 ENST00000308078 ENST00000451448
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D3C
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D3C
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
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Additional cDNA sequence: AB449884.1 AF540953.1 AK095385.1 AK292308.1 AK301823.1 AL136860.1 BC071680.1 BC078140.1 23 DOTS entries: DT.92042803 DT.212833 DT.102843582 DT.97771291 DT.95298566 DT.95298563 DT.100824474 DT.120994568 DT.100787972 DT.91767097 DT.120894920 DT.120994561 DT.91767081 DT.97858652 DT.120894926 DT.120894931 DT.95331186 DT.100787971 DT.120910090 DT.120948228 DT.120948234 DT.120948301 DT.120994618 24/48 AceView cDNA sequences (see all 48): CA394892 BX281608 BM842932 BG718044 BI828386 BI829764 BI832051 BM843014 BM762465 AK095385 AX775945 BX644661 AF540953 AA350665 BC033670 BQ942166 BQ920917 BI519993 BC075809 BI753688 BF091359 CD653466 AX775949 BM846014
GeneLoc Exon Structure
|
Expression
for TBC1D3C 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
| TBC1D3C expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See TBC1D3C Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TBC1D3C
SOURCE GeneReport for Unigene cluster: Hs.454716
UniProtKB/Swiss-Prot: TBC3C_HUMAN, Q6IPX1Tissue specificity: Expressed in pancreas, thymus and testis
SABiosciences Custom PCR Arrays for TBC1D3C
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TBC1D3C
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat TBC1D3C | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBC1D3C | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBC1D3C | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D3C |
Orthologs
for TBC1D3C 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 TBC1D3C 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 |
25(a) |
1 → many |
5(17180663-17259945) |
lizard
(Anolis carolinensis) |
Reptilia |
-- |
-- |
31(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 |
15(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 TBC1D3C (if available)
TreeFam Gene Tree for TBC1D3C (if available) |
Paralogs
for TBC1D3C gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for TBC1D3C gene
- TBC1D3G1 2 TBC1D3B1 2 TBC1D3H1 2 TBC1D31 2 TBC1D3F1 2 SGSM32 TBC1D2B2 GRTP12
- TBC1D10C2 TBC1D10B2 TBC1D262 ENSG000002487512 TBC1D10A2 TBC1D22 USP6NL2 TBC1D282
15 SIMAP similar genes for TBC1D3C using alignment to 3 protein entries: TBC3C_HUMAN (see all proteins):TBC1D3B TBC1D3H TBC1D3F TBC1D3G TBC1D3 TRE17
USP6 USP6-short LOC440419 tre TBC1D26 TBC1D28
TBC1D29 FLJ00050 TBC1D10C
TBC1D3C for paralogs About GeneDecksing
2 Pseudogenes.org Pseudogenes for TBC1D3C
PGOHUM00000261233 PGOHUM00000262960
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Genomic Variants
for TBC1D3C 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 TBC1D3C (34580902 - 34757050 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 38 variations for TBC1D3C
15/38 CNVs (see all 38): 77573 88436 7154 88435 72897 77583 72884 72891 30824 88433 72877 35451 72899 88441 72894 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBC1D3C |
|
Disorders
/ Diseases
for TBC1D3C 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
|
TBC1D3C for disorders About GeneDecksing
OMIM gene information: 610806
OMIM disorders: --
3  diseases for TBC1D3C: About MalaCardsprostate cancer prostatitis malaria
Export disorders for TBC1D3C gene to outside databases
|
Publications
for TBC1D3C 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 TBC1D3C gene integrated from 9 sources:
(articles sorted by number of sources associating them with TBC1D3C) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12. (PubMed id 16863688)1, 2, 3 Hodzic D....Stahl P.D. (2006)
- PRC17, a novel oncogene encoding a Rab GTPase-activating protein, is amplified in prostate cancer. (PubMed id 12359748)1, 3 Pei L.... Li J. (2002)
- DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- The Tre2 (USP6) oncogene is a hominoid-specific gene. (PubMed id 12604796)1 Paulding C.A.... Haber D.A. (2003)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- Generation and analysis of 280,000 human expressed sequence tags. (PubMed id 8889549)1 Hillier L.D....Marra M. (1996)
|
External Searches for TBC1D3C gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing TBC1D3C gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TBC1D3C gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TBC1D3C 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
|
| Name | Description |
| PharmGKB entry for TBC1D3C | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for TBC1D3C gene:
Search GeneIP for patents involving TBC1D3C
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for TBC1D3C 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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