TBC1D3H Gene
protein-coding GIFtS: 34
GCID: GC17M034581
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|
TBC1 domain family, member 3H
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Aliases
for TBC1D3H 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 3H1 2 | | TBC1 Domain Family Member 3-Like Protein LOC7298372 |
Export aliases for TBC1D3H gene to outside databasesPrevious GC identifers: GC17M031820 GC17U900808 GC17M033544 GC17M033416 GC17M034745 |
Summaries
for TBC1D3H 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: TBC3H_HUMAN, P0C7X1Function: Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity)
|
Genomic Views
for TBC1D3H 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:
 Search SABiosciences Regulatory transcription factor binding sites for TBC1D3H
Other transcription factors
Search SABiosciences Chromatin IP Primers for TBC1D3H
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D3H |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17q12 Ensembl cytogenetic band: 17q12 HGNC cytogenetic band: 17q12TBC1D3H 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 GC17M034581: view genomic region
(about GC identifiers)
Start:
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34,581,086 bp from pter |
End:
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34,808,061 bp from pter |
Size:
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226,976 bases |
Orientation:
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minus strand |
1 alternative location:
| Chr17-,PATCHES 34,718,959-34,730,091 |
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Proteins
for TBC1D3H 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: TBC3H_HUMAN, P0C7X1 (See
protein sequence)Recommended Name: TBC1 domain family member 3H Size: 549 amino acids; 62203 Da
Secondary accessions: A6NH17 A8MZ78Explore the universe of human proteins at neXtProt for TBC1D3H: NX_P0C7X1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P0C7X1
TBC1D3H Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001116864.2
ENSEMBL proteins: ENSP00000340678 ENSP00000377887 ENSP00000409195 ENSP00000441721 ENSP00000383522
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 |
-- | -- |
TBC1D3H for ontologies About GeneDecksing
TBC1D3H Antibody Products:
Assay Products for TBC1D3H: |
Protein
Domains /
Families
for TBC1D3H gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TBC1D3H for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry P0C7X1ProtoNet protein and cluster: P0C7X1 UniProtKB/Swiss-Prot: TBC3H_HUMAN, P0C7X1Similarity: Contains 1 Rab-GAP TBC domain |
Function
for TBC1D3H 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: TBC3H_HUMAN, P0C7X1Function: Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity)
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D3H
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D3H
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D3H |
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 |
-- | -- |
TBC1D3H for ontologies About GeneDecksing
|
Pathways & Interactions
for TBC1D3H 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 TBC1D3H
|
Drugs & Compounds
for TBC1D3H 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 TBC1D3H
Search CenterWatch for drugs/clinical trials and news about TBC1D3H / TBC3H
|
Transcripts
for TBC1D3H 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 TBC1D3H gene: NM_001123392.2 Unigene Cluster for TBC1D3H: TBC1 domain family, member 3H Hs.569742 [show with all ESTs]Unigene Representative Sequence: NM_0011233928 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000340106 ENST00000394359(uc002hmb.2) ENST00000455054(uc002hmc.3 uc010wcx.1 uc002hmd.3)
ENST00000588440 ENST00000592088 ENST00000589865 ENST00000535446(uc002hlm.2 uc010wcv.1)
ENST00000400684
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D3H
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D3H
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: TBC1D3H (NM_001123392) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TBC1D3H | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat TBC1D3H |
14 DOTS entries: DT.92042803 DT.120994583 DT.92048469 DT.120948274 DT.120994560 DT.95298563 DT.97771291 DT.97858652 DT.120894916 DT.120948278 DT.120948285 DT.120994618 DT.120994639 DT.212833
GeneLoc Exon Structure
|
Expression
for TBC1D3H 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
| TBC1D3H expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See TBC1D3H Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TBC1D3H
SOURCE GeneReport for Unigene cluster: Hs.569742
UniProtKB/Swiss-Prot: TBC3H_HUMAN, P0C7X1Tissue specificity: Expressed in heart
SABiosciences Custom PCR Arrays for TBC1D3H
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TBC1D3H
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat TBC1D3H | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBC1D3H | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBC1D3H | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D3H |
Orthologs
for TBC1D3H 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 TBC1D3H 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 |
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 TBC1D3H (if available)
TreeFam Gene Tree for TBC1D3H (if available) |
Paralogs
for TBC1D3H gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for TBC1D3H gene
- TBC1D3G1 2 TBC1D3C1 2 TBC1D31 2 TBC1D3B1 2 TBC1D3F1 2 SGSM32 TBC1D2B2 GRTP12
- TBC1D10C2 TBC1D10B2 TBC1D262 ENSG000002487512 TBC1D10A2 TBC1D22 USP6NL2 TBC1D282
16 SIMAP similar genes for TBC1D3H using alignment to 4 protein entries: TBC3H_HUMAN (see all proteins):TBC1D3F TBC1D3B TBC1D3 TBC1D3C TBC1D3G USP6-short
USP6 TRE17 tre LOC440419 TBC1D26 TBC1D28
TBC1D29 TBC1D10A FLJ00050 TBC1D10C
TBC1D3H for paralogs About GeneDecksing
4 Pseudogenes.org Pseudogenes for TBC1D3H
PGOHUM00000237208 PGOHUM00000259253 PGOHUM00000246111 PGOHUM00000250202
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Genomic Variants
for TBC1D3H 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 TBC1D3H (34581086 - 34808061 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 18 variations for TBC1D3H
15/18 CNVs (see all 18): 77573 88436 8841 72893 77583 72891 30824 77576 3142 77575 34477 8843 0799 88434 0800 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBC1D3H |
|
Disorders
/ Diseases
for TBC1D3H 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
|
TBC1D3H for disorders About GeneDecksing
OMIM gene information: 610811
OMIM disorders: --
1  disease for TBC1D3H: About MalaCardsmalaria
Export disorders for TBC1D3H gene to outside databases
|
Publications
for TBC1D3H 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 TBC1D3H gene integrated from 9 sources:
(articles sorted by number of sources associating them with TBC1D3H) | |  | 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)
- 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)
|
External Searches for TBC1D3H gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing TBC1D3H gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TBC1D3H gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TBC1D3H 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 TBC1D3H | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for TBC1D3H gene:
Search GeneIP for patents involving TBC1D3H
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for TBC1D3H 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
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for TBC1D3H | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TBC1D3H | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TBC1D3H | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for TBC1D3H | | OriGene 3'-UTR Clone for TBC1D3H | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D3H | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D3H | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TBC1D3H | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBC1D3H | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D3H | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBC1D3H | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBC1D3H | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBC1D3H |
| |
 |  |  |  | |
| | | | Search Tocris compounds for TBC1D3H |
| |  |  |  |  | | | | |
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 | | | TBC1D3H Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D3H |
|  |  |  | | | | Search ThermoFisher Antibodies for TBC1D3H |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat TBC1D3H |
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