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TBC1D29 Gene

protein-coding   GIFtS: 34
GCID: GC17P028886

TBC1 Domain Family, Member 29

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
TBC1 Domain Family, Member 291 2
Putative TBC1 Domain Family Member 292

External Ids:    HGNC: 245091   Entrez Gene: 260832   Ensembl: ENSG000002667337   UniProtKB: Q9UFV13   

Export aliases for TBC1D29 gene to outside databases

Previous GC identifers: GC17P025910 GC17P025096


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TBC1D29 Gene:
TBC1D29 (TBC1 domain family, member 29) is a protein-coding gene. GO annotations related to this gene include Rab GTPase activator activity.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TBC1D29 gene promoter:
         AhR   USF1   NCX/Ncx   Lmo2   LCR-F1   Arnt   E47   PPAR-gamma1   USF-1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBC1D29 promoter sequence
   Search Chromatin IP Primers for TBC1D29

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TBC1D29


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q11.2   Ensembl cytogenetic band:  17q11.2   HGNC cytogenetic band: 17q11.2

TBC1D29 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D29 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P028886:  view genomic region     (about GC identifiers)

Start:
28,884,130 bp from pter      End:
28,890,511 bp from pter
Size:
6,382 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TBC29_HUMAN, Q9UFV1 (See protein sequence)
Recommended Name: Putative TBC1 domain family member 29  
Size: 150 amino acids; 16280 Da

Explore the universe of human proteins at neXtProt for TBC1D29: NX_Q9UFV1

Explore proteomics data for TBC1D29 at MOPED


See TBC1D29 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_056409.1  
ENSEMBL proteins: 
 ENSP00000462799   ENSP00000463703   ENSP00000464450  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR000195 Rab-GTPase-TBC_dom

Graphical View of Domain Structure for InterPro Entry Q9UFV1

ProtoNet protein and cluster: Q9UFV1

UniProtKB/Swiss-Prot: TBC29_HUMAN, Q9UFV1
Similarity: Contains 1 Rab-GAP TBC domain


Find genes that share domains with TBC1D29           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005097Rab GTPase activator activity IEA--
     
Find genes that share ontologies with TBC1D29           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for TBC1D29:
 Increased gamma-H2AX phosphory 

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for TBC1D29

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2
extracellular1

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TBC1D29
Interactions:

    Search GeneGlobe Interaction Network for TBC1D29

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0032313regulation of Rab GTPase activity ----

Find genes that share ontologies with TBC1D29           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Tocris compounds for TBC1D29 (TBC29)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for TBC1D29 gene: 
NM_015594.2  

Unigene Cluster for TBC1D29:

TBC1 domain family, member 29
Hs.241421
Unigene Representative Sequence: NM_015594
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000580161(uc002hfh.3 uc002hfi.3) ENST00000584297 ENST00000579181
ENST00000582511
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Additional mRNA sequence: 

BC096718.1 BC098126.1 

1 DOTS entry:

DT.102765 

3 AceView cDNA sequences:

AL117394 NM_015594 BV198308 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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TBC1D29 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
TBC1D29 Expression
About this image

TBC1D29 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

TBC1D29 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.241421
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In Situ
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(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)
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This gene was present in the common ancestor of human and chimp.

Orthologs for TBC1D29 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia LOC1010593801 putative TBC1 domain family member 29-like 90.88(n)
85.85(a)
  101059380  XM_003953102.1  XP_003953151.1 


ENSEMBL Gene Tree for TBC1D29 (if available)
TreeFam Gene Tree for TBC1D29 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for TBC1D29 gene
9 SIMAP similar genes for TBC1D29 using alignment to 2 protein entries:     TBC29_HUMAN (see all proteins):
USP6    USP6-short    TBC1D3C    TBC1D3H    TBC1D3B    TBC1D3F
TBC1D3    TBC1D3G    tre

Find genes that share paralogs with TBC1D29           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for TBC1D29 (see all 151)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1895728141,2
--28884587(+) ACACAC/TGGAGC 1 -- us2k10--------
rs1115403871,2
C,F--28884757(+) GCTACC/TAAAGT 1 -- us2k12Minor allele frequency- T:0.07CSA WA 120
rs28746711,2
H--28884776(+) cattcT/Ctaggc 1 -- us2k14Minor allele frequency- C:0.00NS EA 418
rs1148955191,2
F--28884779(+) TCTTAG/AGCCAT 1 -- us2k11Minor allele frequency- A:0.03WA 118
rs1462991851,2
--28884841(+) GCTGAC/TGGATC 1 -- us2k10--------
rs1808135171,2
--28884842(+) CTGACA/GGATCG 1 -- us2k10--------
rs1858713641,2
--28884902(+) GAGTCA/GCTCCA 1 -- us2k10--------
rs1395644581,2
C--28884928(+) GTAGCC/TGGGAG 1 -- us2k10--------
rs563160011,2
C,F--28884991(+) TTGGCG/ATGTGT 1 -- us2k13Minor allele frequency- A:0.05WA NA 240
rs728098571,2
C--28885015(+) AAAAAG/AATCAT 1 -- us2k11Minor allele frequency- A:0.50CSA 2

HapMap Linkage Disequilibrium report for TBC1D29 (28884130 - 28890511 bp)

Structural Variations
     Database of Genomic Variants (DGV) 7 variations for TBC1D29:    About this table    
Variant IDTypeSubtypePubMed ID
nsv471394CNV Duplication19718026
esv32561CNV Gain17666407
esv29095CNV Gain19812545
nsv515870CNV Gain19592680
nsv908047CNV Gain21882294
nsv827943CNV Gain20364138
dgv3138n71CNV Gain21882294

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(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.)
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  --

(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)
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PubMed articles for TBC1D29 gene integrated from 10 sources:
(articles sorted by number of sources associating them with TBC1D29)
    Utopia: connect your pdf to the dynamic
world of online information

  1. GAPs galore! A survey of putative Ras superfamily GTPase activating proteins in man and Drosophila. (PubMed id 12618308)1, 3 Bernards A. (Biochim. Biophys. Acta 2003)
  2. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
  3. 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. (Genome Res. 2004)
  4. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 26083 HGNC: 24509 AceView: DKFZP434O047 Ensembl:ENSG00000266733 euGenes: HUgn26083
ECgene: TBC1D29 H-InvDB: TBC1D29

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for TBC1D29 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for TBC1D29 gene:
Search GeneIP for patents involving TBC1D29

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes      Disease genes      TBC1D29 gene at Home site.
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