TBC1D5 Gene
protein-coding GIFtS: 49
GCID: GC03M017198
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TBC1 domain family, member 5
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Aliases for TBC1D5 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 51 2 | | KIAA02101 3 | | TBC1 Domain Family Member 52 |
Export aliases for TBC1D5 gene to outside databasesPrevious GC identifers: GC03M017129 GC03M017174 GC03M017133 |
Summaries for TBC1D5 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: TBCD5_HUMAN, Q92609Function: May act as a GTPase-activating protein for Rab family protein(s)
|
Genomic Views for TBC1D5 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_000003.11 NC_018914.1 NT_022517.18
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the TBC1D5 gene promoter: SRF Pax-5 GATA-3 Pax-6 SRF (504 AA) GATA-1 GATA-2 FOXC1 FOXJ2 (long isoform) FOXJ2 Other transcription factors
Search SABiosciences Chromatin IP Primers for TBC1D5
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D5 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3p24.3 Ensembl cytogenetic band: 3p24.3 HGNC cytogenetic band: 3p24.3TBC1D5 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03M017198: view genomic region
(about GC identifiers)
Start:
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17,198,654 bp from pter |
End:
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18,486,309 bp from pter |
Size:
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1,287,656 bases |
Orientation:
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minus strand |
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Proteins for TBC1D5 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: TBCD5_HUMAN, Q92609 (See
protein sequence)Recommended Name: TBC1 domain family member 5 Size: 795 amino acids; 89004 Da
Sequence caution: Sequence=BAA13201.2; Type=Erroneous initiation;
Secondary accessions: A6NP25 C9JP52Alternative splicing: 2 isoforms: Q92609-1 Q92609-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for TBC1D5: NX_Q92609
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q92609 TBC1D5 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001127852.1 NP_001127853.1 NP_055559.1 ENSEMBL proteins: ENSP00000253692 ENSP00000398127 ENSP00000402935 ENSP00000411925 ENSP00000396239 ENSP00000405886 ENSP00000414250 ENSP00000387395 ENSP00000399967 ENSP00000411780 ENSP00000410596 ENSP00000393882 ENSP00000424998 ENSP00000415379 ENSP00000414159 ENSP00000396850 ENSP00000408603 Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005622 | intracellular |
IEA | -- | | GO:0030904 | retromer complex |
IDA | -- |
TBC1D5 for ontologies About GeneDecksing
TBC1D5 Antibody Products: Assay Products for TBC1D5: |
Protein
Domains / Families for TBC1D5 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TBC1D5 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q92609ProtoNet protein and cluster: Q92609 1 Blocks protein family: IPB000195 RabGAP/TBC domain
UniProtKB/Swiss-Prot: TBCD5_HUMAN, Q92609Similarity: Contains 1 Rab-GAP TBC domain |
Function for TBC1D5 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: TBCD5_HUMAN, Q92609Function: May act as a GTPase-activating protein for Rab family protein(s)
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 TBC1D5 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D5 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): TBC1D5 (NM_001134381) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TBC1D5 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBC1D5  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D5 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
TBC1D5 for ontologies About GeneDecksing
|
Pathways & Interactions for TBC1D5 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 TBC1D5
STRING Interaction
Network Preview (showing 5 interactants - click image to see 11)
 5/14 Interacting proteins for TBC1D5 (Q926091, 2, 3 ENSP000004029354) via UniProtKB, MINT, STRING, and/or I2D (see all 14)About this table
|
Drugs & Compounds for TBC1D5 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 TBC1D5 Search CenterWatch for drugs/clinical trials and news about TBC1D5 / TBCD5 
|
Transcripts for TBC1D5 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 TBC1D5 gene (3 alternative transcripts): NM_001134380.1 NM_001134381.1 NM_014744.2 Unigene Cluster for TBC1D5: TBC1 domain family, member 5 Hs.475629 [show with all ESTs]Unigene Representative Sequence: NM_01474418/30 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 30): ENST00000253692(uc010heu.3 uc010hev.3 uc003cbf.3 uc003cbe.3) ENST00000429383 ENST00000414318 ENST00000446818 ENST00000429924(uc010hew.1) ENST00000465884 ENST00000415814 ENST00000452492 ENST00000412981 ENST00000428355 ENST00000425944 ENST00000430169 ENST00000445294 ENST00000414349 ENST00000443499 ENST00000443386 ENST00000497531 ENST00000444756
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D5 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D5 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): TBC1D5 (NM_001134381) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TBC1D5 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBC1D5  |
Additional cDNA sequence: AB449886.1 AK097990.1 AK309374.1 AK310539.1 BC013145.1 D86965.1 20 DOTS entries: DT.417592 DT.95371166 DT.97843238 DT.95371170 DT.91760164 DT.91760158 DT.95156888 DT.120924459 DT.120924485 DT.120924524 DT.95371167 DT.120924443 DT.120924457 DT.70104648 DT.100812269 DT.101970022 DT.102843197 DT.120924520 DT.120924573 DT.97762430 24/295 AceView cDNA sequences (see all 295): CK430991 CR619208 AU143495 AI239783 BQ705978 AW203970 BF448408 AW292031 AW594113 AI086250 AI146801 Z40285 BU070375 BM126836 CD370108 BM802699 AA503016 AA977666 BX280292 AW499739 BU156051 AA243266 BM991013 W21163 GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D5 About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | |
| SP1: | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for TBC1D5
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Expression for TBC1D5 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
| TBC1D5 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TATGCCCTAT
About this image See TBC1D5 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for TBC1D5
SOURCE GeneReport for Unigene cluster: Hs.475629 SABiosciences Custom PCR Arrays for TBC1D5
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TBC1D5 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TBC1D5 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBC1D5 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBC1D5 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D5 |
Orthologs for TBC1D5 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 eukaryotes.
Orthologs for TBC1D5 gene from 9/26 species (see all 26) About this table
ENSEMBL Gene Tree for TBC1D5 (if available) TreeFam Gene Tree for TBC1D5 (if available)  |
Paralogs for TBC1D5 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for TBC1D5 gene
- TBC1D22B2 TBC1D132 TBC1D22A2
TBC1D5 for paralogs About GeneDecksing
|
Genomic Variants for TBC1D5 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 3 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for TBC1D5 (17198654 - 17448654 bp, first 250kb of TBC1D5)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 15 variations for TBC1D5 10 CNVs: 37925 91218 63411 59107 91219 63412 36105 98248 36104 79701 5 Indels: 46335 98247 27217 62036 42191  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBC1D5 |
|
Disorders
/ Diseases for TBC1D5 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
|
TBC1D5 for disorders About GeneDecksing
2 diseases for TBC1D5: About MalaCardsataxia malaria Human Genome Epidemiology (HuGE) Navigator: TBC1D5 (1 document) Export disorders for TBC1D5 gene to outside databases
|
Publications for TBC1D5 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 TBC1D5 gene, integrated from 9 sources (see all 24): (articles sorted by number of sources associating them with TBC1D5) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Membrane recruitment of the cargo-selective retromer subcomplex is catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP T BC1D5. (PubMed id 19531583)1, 3 Seaman M.N....Bright N. (2009)
- Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PubMed id 9039502)1, 2 Nagase T....Nomura N. (1996)
- Rab GTPase-activating proteins in autophagy: regulatio n of endocytic and autophagy pathways by direct binding to human ATG8 modifiers. (PubMed id 22354992)1 Popovic D....Dikic I. (2012)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
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External Searches for TBC1D5 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing TBC1D5 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TBC1D5 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing TBC1D5 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 TBC1D5 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for TBC1D5 gene: Search GeneIP for patents involving TBC1D5
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for TBC1D5 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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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TBC1D5 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBC1D5 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D5 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBC1D5 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBC1D5 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBC1D5 |
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 | | TBC1D5 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D5 |
|  |  |  | | | Search ThermoFisher Antibodies for TBC1D5 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBC1D5 |
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