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TBC1D1 (TBC1 domain family member 1)

Identity

Alias_namesTBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1
TBC1 domain family, member 1
Alias_symbol (synonym)TBC
TBC1
KIAA1108
Other alias
HGNC (Hugo) TBC1D1
LocusID (NCBI) 23216
Atlas_Id 42476
Location 4p14  [Link to chromosome band 4p14]
Location_base_pair Starts at 37892705 and ends at 38140796 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CDKAL1 (6p22.3) / TBC1D1 (4p14)LRCH4 (7q22.1) / TBC1D1 (4p14)NSD1 (5q35.2) / TBC1D1 (4p14)
PSPH (7p11.2) / TBC1D1 (4p14)TBC1D1 (4p14) / CD47 (3q13.12)TBC1D1 (4p14) / CRMP1 (4p16.2)
TBC1D1 (4p14) / RAB28 (4p15.33)TBC1D1 (4p14) / TBC1D1 (4p14)CDKAL1 6p22.3 / TBC1D1 4p14
TBC1D1 4p14 / RAB28 4p15.33

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)TBC1D1   11578
Cards
Entrez_Gene (NCBI)TBC1D1  23216  TBC1 domain family member 1
AliasesTBC; TBC1
GeneCards (Weizmann)TBC1D1
Ensembl hg19 (Hinxton)ENSG00000065882 [Gene_View]  chr4:37892705-38140796 [Contig_View]  TBC1D1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000065882 [Gene_View]  chr4:37892705-38140796 [Contig_View]  TBC1D1 [Vega]
ICGC DataPortalENSG00000065882
TCGA cBioPortalTBC1D1
AceView (NCBI)TBC1D1
Genatlas (Paris)TBC1D1
WikiGenes23216
SOURCE (Princeton)TBC1D1
Genetics Home Reference (NIH)TBC1D1
Genomic and cartography
GoldenPath hg19 (UCSC)TBC1D1  -     chr4:37892705-38140796 +  4p14   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TBC1D1  -     4p14   [Description]    (hg38-Dec_2013)
EnsemblTBC1D1 - 4p14 [CytoView hg19]  TBC1D1 - 4p14 [CytoView hg38]
Mapping of homologs : NCBITBC1D1 [Mapview hg19]  TBC1D1 [Mapview hg38]
OMIM609850   
Gene and transcription
Genbank (Entrez)AB029031 AB449881 AK027355 AK057182 AK074954
RefSeq transcript (Entrez)NM_001253912 NM_001253913 NM_001253914 NM_001253915 NM_015173
RefSeq genomic (Entrez)NC_000004 NC_018915 NT_006238 NW_004929317
Consensus coding sequences : CCDS (NCBI)TBC1D1
Cluster EST : UnigeneHs.176503 [ NCBI ]
CGAP (NCI)Hs.176503
Alternative Splicing GalleryENSG00000065882
Gene ExpressionTBC1D1 [ NCBI-GEO ]   TBC1D1 [ EBI - ARRAY_EXPRESS ]   TBC1D1 [ SEEK ]   TBC1D1 [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23216
GTEX Portal (Tissue expression)TBC1D1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86TI0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86TI0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86TI0
Splice isoforms : SwissVarQ86TI0
PhosPhoSitePlusQ86TI0
Domaine pattern : Prosite (Expaxy)PID (PS01179)    TBC_RABGAP (PS50086)   
Domains : Interpro (EBI)DUF3350    PH_dom-like    PTB/PI_dom    Rab-GTPase-TBC_dom   
Domain families : Pfam (Sanger)DUF3350 (PF11830)    PID (PF00640)    RabGAP-TBC (PF00566)   
Domain families : Pfam (NCBI)pfam11830    pfam00640    pfam00566   
Domain families : Smart (EMBL)PTB (SM00462)  TBC (SM00164)  
Conserved Domain (NCBI)TBC1D1
DMDM Disease mutations23216
Blocks (Seattle)TBC1D1
PDB (SRS)3QYE   
PDB (PDBSum)3QYE   
PDB (IMB)3QYE   
PDB (RSDB)3QYE   
Structural Biology KnowledgeBase3QYE   
SCOP (Structural Classification of Proteins)3QYE   
CATH (Classification of proteins structures)3QYE   
SuperfamilyQ86TI0
Human Protein AtlasENSG00000065882
Peptide AtlasQ86TI0
HPRD18161
IPIIPI00164610   IPI00877900   IPI00880179   IPI00878875   IPI00879034   IPI00967421   IPI00967336   IPI00941459   
Protein Interaction databases
DIP (DOE-UCLA)Q86TI0
IntAct (EBI)Q86TI0
FunCoupENSG00000065882
BioGRIDTBC1D1
STRING (EMBL)TBC1D1
ZODIACTBC1D1
Ontologies - Pathways
QuickGOQ86TI0
Ontology : AmiGOGTPase activator activity  protein binding  intracellular  nucleus  cytosol  intracellular protein transport  endomembrane system  Rab GTPase binding  regulation of vesicle fusion  regulation of protein localization  membrane organization  activation of GTPase activity  regulation of cilium assembly  
Ontology : EGO-EBIGTPase activator activity  protein binding  intracellular  nucleus  cytosol  intracellular protein transport  endomembrane system  Rab GTPase binding  regulation of vesicle fusion  regulation of protein localization  membrane organization  activation of GTPase activity  regulation of cilium assembly  
NDEx NetworkTBC1D1
Atlas of Cancer Signalling NetworkTBC1D1
Wikipedia pathwaysTBC1D1
Orthology - Evolution
OrthoDB23216
GeneTree (enSembl)ENSG00000065882
Phylogenetic Trees/Animal Genes : TreeFamTBC1D1
HOVERGENQ86TI0
HOGENOMQ86TI0
Homologs : HomoloGeneTBC1D1
Homology/Alignments : Family Browser (UCSC)TBC1D1
Gene fusions - Rearrangements
Fusion : MitelmanCDKAL1/TBC1D1 [6p22.3/4p14]  [t(4;6)(p14;p22)]  
Fusion : MitelmanTBC1D1/RAB28 [4p14/4p15.33]  [t(4;4)(p14;p15)]  
Fusion: TCGACDKAL1 6p22.3 TBC1D1 4p14 BLCA
Fusion: TCGATBC1D1 4p14 RAB28 4p15.33 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D1
dbVarTBC1D1
ClinVarTBC1D1
1000_GenomesTBC1D1 
Exome Variant ServerTBC1D1
ExAC (Exome Aggregation Consortium)TBC1D1 (select the gene name)
Genetic variants : HAPMAP23216
Genomic Variants (DGV)TBC1D1 [DGVbeta]
DECIPHER (Syndromes)4:37892705-38140796  ENSG00000065882
CONAN: Copy Number AnalysisTBC1D1 
Mutations
ICGC Data PortalTBC1D1 
TCGA Data PortalTBC1D1 
Broad Tumor PortalTBC1D1
OASIS PortalTBC1D1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBC1D1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBC1D1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TBC1D1
DgiDB (Drug Gene Interaction Database)TBC1D1
DoCM (Curated mutations)TBC1D1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D1 (select a term)
intoGenTBC1D1
Cancer3DTBC1D1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609850   
Orphanet
MedgenTBC1D1
Genetic Testing Registry TBC1D1
NextProtQ86TI0 [Medical]
TSGene23216
GENETestsTBC1D1
Huge Navigator TBC1D1 [HugePedia]
snp3D : Map Gene to Disease23216
BioCentury BCIQTBC1D1
ClinGenTBC1D1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23216
Chemical/Pharm GKB GenePA36342
Clinical trialTBC1D1
Miscellaneous
canSAR (ICR)TBC1D1 (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBC1D1
EVEXTBC1D1
GoPubMedTBC1D1
iHOPTBC1D1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 30 15:21:50 CEST 2017

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