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TBC1D1 (TBC1 domain family member 1)

Identity

Alias (NCBI)TBC
TBC1
HGNC (Hugo) TBC1D1
HGNC Alias symbTBC
TBC1
KIAA1108
HGNC Previous nameTBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1
 TBC1 domain family, member 1
LocusID (NCBI) 23216
Atlas_Id 42476
Location 4p14  [Link to chromosome band 4p14]
Location_base_pair Starts at 37891084 and ends at 38139173 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    TBC1 domain family member 1
AliasesTBC; TBC1
GeneCards (Weizmann)TBC1D1
Ensembl hg19 (Hinxton)ENSG00000065882 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000065882 [Gene_View]  ENSG00000065882 [Sequence]  chr4:37891084-38139173 [Contig_View]  TBC1D1 [Vega]
ICGC DataPortalENSG00000065882
TCGA cBioPortalTBC1D1
AceView (NCBI)TBC1D1
Genatlas (Paris)TBC1D1
SOURCE (Princeton)TBC1D1
Genetics Home Reference (NIH)TBC1D1
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D1  -     chr4:37891084-38139173 +  4p14   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D1  -     4p14   [Description]    (hg19-Feb_2009)
GoldenPathTBC1D1 - 4p14 [CytoView hg19]  TBC1D1 - 4p14 [CytoView hg38]
ImmunoBaseENSG00000065882
Genome Data Viewer NCBITBC1D1 [Mapview hg19]  
OMIM609850   
Gene and transcription
Genbank (Entrez)AB029031 AB449881 AK027355 AK057182 AK074954
RefSeq transcript (Entrez)NM_001253912 NM_001253913 NM_001253914 NM_001253915 NM_015173
Consensus coding sequences : CCDS (NCBI)TBC1D1
Gene ExpressionTBC1D1 [ NCBI-GEO ]   TBC1D1 [ EBI - ARRAY_EXPRESS ]   TBC1D1 [ SEEK ]   TBC1D1 [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D1 [ Firebrowse - Broad ]
GenevisibleExpression of TBC1D1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23216
GTEX Portal (Tissue expression)TBC1D1
Human Protein AtlasENSG00000065882-TBC1D1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ86TI0
Domaine pattern : Prosite (Expaxy)PID (PS01179)    TBC_RABGAP (PS50086)   
Domains : Interpro (EBI)DUF3350    PH-like_dom_sf    PTB/PI_dom    Rab-GTPase-TBC_dom    Rab-GTPase_TBC_sf   
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
PDB (RSDB)3QYE   
PDB Europe3QYE   
PDB (PDBSum)3QYE   
PDB (IMB)3QYE   
Structural Biology KnowledgeBase3QYE   
SCOP (Structural Classification of Proteins)3QYE   
CATH (Classification of proteins structures)3QYE   
SuperfamilyQ86TI0
AlphaFold pdb e-kbQ86TI0   
Human Protein Atlas [tissue]ENSG00000065882-TBC1D1 [tissue]
HPRD18161
Protein Interaction databases
DIP (DOE-UCLA)Q86TI0
IntAct (EBI)Q86TI0
BioGRIDTBC1D1
STRING (EMBL)TBC1D1
ZODIACTBC1D1
Ontologies - Pathways
QuickGOQ86TI0
Ontology : AmiGOGTPase activator activity  protein binding  nucleus  intracellular protein transport  regulation of protein localization  activation of GTPase activity  regulation of cilium assembly  
Ontology : EGO-EBIGTPase activator activity  protein binding  nucleus  intracellular protein transport  regulation of protein localization  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
Homologs : HomoloGeneTBC1D1
Homology/Alignments : Family Browser (UCSC)TBC1D1
Gene fusions - Rearrangements
Fusion : MitelmanCDKAL1/TBC1D1 [6p22.3/4p14]  
Fusion : MitelmanTBC1D1/RAB28 [4p14/4p15.33]  
Fusion : QuiverTBC1D1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D1
dbVarTBC1D1
ClinVarTBC1D1
MonarchTBC1D1
1000_GenomesTBC1D1 
Exome Variant ServerTBC1D1
GNOMAD BrowserENSG00000065882
Varsome BrowserTBC1D1
ACMGTBC1D1 variants
VarityQ86TI0
Genomic Variants (DGV)TBC1D1 [DGVbeta]
DECIPHERTBC1D1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DTBC1D1
Mutations and Diseases : HGMDTBC1D1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTBC1D1
DgiDB (Drug Gene Interaction Database)TBC1D1
DoCM (Curated mutations)TBC1D1
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D1
Cancer3DTBC1D1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609850   
Orphanet
DisGeNETTBC1D1
MedgenTBC1D1
Genetic Testing Registry TBC1D1
NextProtQ86TI0 [Medical]
GENETestsTBC1D1
Target ValidationTBC1D1
Huge Navigator TBC1D1 [HugePedia]
ClinGenTBC1D1
Clinical trials, drugs, therapy
MyCancerGenomeTBC1D1
Protein Interactions : CTDTBC1D1
Pharm GKB GenePA36342
PharosQ86TI0
Clinical trialTBC1D1
Miscellaneous
canSAR (ICR)TBC1D1
HarmonizomeTBC1D1
DataMed IndexTBC1D1
Probes
Litterature
PubMed55 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTBC1D1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:34:19 CEST 2021

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