Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CTBP1 (C-terminal binding protein 1)

Identity

Alias (NCBI)BARS
HADDTS
HGNC (Hugo) CTBP1
HGNC Alias symbBARS
HGNC Alias namebrefeldin A-ribosylated substrate
LocusID (NCBI) 1487
Atlas_Id 40185
Location 4p16.3  [Link to chromosome band 4p16]
Location_base_pair Starts at 1211445 and ends at 1249990 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)
ASAH1 (8p22) / CTBP1 (4p16.3)CTBP1 (4p16.3) / ATF6 (1q23.3)CTBP1 (4p16.3) / CTBP1 (4p16.3)
FZD3 (8p21.1) / CTBP1 (4p16.3)MAEA (4p16.3) / CTBP1 (4p16.3)RNF212 (4p16.3) / CTBP1 (4p16.3)
MAEA 4p16.3 / CTBP1 4p16.3

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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 7 ]
  inv(3)(p24q26) ?/MECOM
inv(3)(q21q26) RPN1/MECOM
t(3;5)(q26;q31) H2AFY/MECOM
t(3;7)(q26;q21) CDK6/MECOM
t(3;21)(q26;q11) NRIP1/MECOM
t(4;4)(p16;p16) FGFRL1/CTBP1
t(4;4)(p16;p16) MAEA/CTBP1


External links

Nomenclature
HGNC (Hugo)CTBP1   2494
Cards
Entrez_Gene (NCBI)CTBP1    C-terminal binding protein 1
AliasesBARS; HADDTS
GeneCards (Weizmann)CTBP1
Ensembl hg19 (Hinxton)ENSG00000159692 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000159692 [Gene_View]  ENSG00000159692 [Sequence]  chr4:1211445-1249990 [Contig_View]  CTBP1 [Vega]
ICGC DataPortalENSG00000159692
TCGA cBioPortalCTBP1
AceView (NCBI)CTBP1
Genatlas (Paris)CTBP1
SOURCE (Princeton)CTBP1
Genetics Home Reference (NIH)CTBP1
Genomic and cartography
GoldenPath hg38 (UCSC)CTBP1  -     chr4:1211445-1249990 -  4p16.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CTBP1  -     4p16.3   [Description]    (hg19-Feb_2009)
GoldenPathCTBP1 - 4p16.3 [CytoView hg19]  CTBP1 - 4p16.3 [CytoView hg38]
ImmunoBaseENSG00000159692
genome Data Viewer NCBICTBP1 [Mapview hg19]  
OMIM194190   602618   617915   
Gene and transcription
Genbank (Entrez)AF091555 AL137653 BC011655 BC053320 BC064333
RefSeq transcript (Entrez)NM_001012614 NM_001328 NM_001377186 NM_001377187 NM_001377188 NM_001377189 NM_001377190 NM_001377191 NM_001377192 NM_001377193
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CTBP1
Alternative Splicing GalleryENSG00000159692
Gene ExpressionCTBP1 [ NCBI-GEO ]   CTBP1 [ EBI - ARRAY_EXPRESS ]   CTBP1 [ SEEK ]   CTBP1 [ MEM ]
Gene Expression Viewer (FireBrowse)CTBP1 [ Firebrowse - Broad ]
GenevisibleExpression of CTBP1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1487
GTEX Portal (Tissue expression)CTBP1
Human Protein AtlasENSG00000159692-CTBP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13363   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13363  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13363
Splice isoforms : SwissVarQ13363
PhosPhoSitePlusQ13363
Domaine pattern : Prosite (Expaxy)D_2_HYDROXYACID_DH_1 (PS00065)    D_2_HYDROXYACID_DH_3 (PS00671)   
Domains : Interpro (EBI)D-isomer_2_OHA_DH_cat_dom    D-isomer_DH_CS    D-isomer_DH_CS1    D-isomer_DH_NAD-bd    NAD(P)-bd_dom_sf   
Domain families : Pfam (Sanger)2-Hacid_dh (PF00389)    2-Hacid_dh_C (PF02826)   
Domain families : Pfam (NCBI)pfam00389    pfam02826   
Conserved Domain (NCBI)CTBP1
Blocks (Seattle)CTBP1
PDB (RSDB)1MX3    4LCE    4U6Q    4U6S    6CDF    6CDR   
PDB Europe1MX3    4LCE    4U6Q    4U6S    6CDF    6CDR   
PDB (PDBSum)1MX3    4LCE    4U6Q    4U6S    6CDF    6CDR   
PDB (IMB)1MX3    4LCE    4U6Q    4U6S    6CDF    6CDR   
Structural Biology KnowledgeBase1MX3    4LCE    4U6Q    4U6S    6CDF    6CDR   
SCOP (Structural Classification of Proteins)1MX3    4LCE    4U6Q    4U6S    6CDF    6CDR   
CATH (Classification of proteins structures)1MX3    4LCE    4U6Q    4U6S    6CDF    6CDR   
SuperfamilyQ13363
Human Protein Atlas [tissue]ENSG00000159692-CTBP1 [tissue]
Peptide AtlasQ13363
HPRD04015
IPIIPI00012835   IPI00450767   IPI00966719   IPI00554626   IPI00968298   IPI00964612   IPI00964890   IPI00964078   IPI00965152   IPI00965652   IPI00965405   IPI00964334   
Protein Interaction databases
DIP (DOE-UCLA)Q13363
IntAct (EBI)Q13363
BioGRIDCTBP1
STRING (EMBL)CTBP1
ZODIACCTBP1
Ontologies - Pathways
QuickGOQ13363
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  chromatin binding  transcription corepressor activity  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  chromatin silencing  protein phosphorylation  protein C-terminus binding  transcription factor binding  negative regulation of cell proliferation  oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor  transcriptional repressor complex  transcriptional repressor complex  viral genome replication  protein domain specific binding  protein domain specific binding  positive regulation of histone deacetylation  negative regulation of histone acetylation  identical protein binding  negative regulation of transcription, DNA-templated  white fat cell differentiation  NAD binding  regulation of cell cycle  oxidation-reduction process  repressing transcription factor binding  negative regulation of histone H4 acetylation  presynaptic active zone cytoplasmic component  glutamatergic synapse  GABA-ergic synapse  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  chromatin binding  transcription corepressor activity  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  chromatin silencing  protein phosphorylation  protein C-terminus binding  transcription factor binding  negative regulation of cell proliferation  oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor  transcriptional repressor complex  transcriptional repressor complex  viral genome replication  protein domain specific binding  protein domain specific binding  positive regulation of histone deacetylation  negative regulation of histone acetylation  identical protein binding  negative regulation of transcription, DNA-templated  white fat cell differentiation  NAD binding  regulation of cell cycle  oxidation-reduction process  repressing transcription factor binding  negative regulation of histone H4 acetylation  presynaptic active zone cytoplasmic component  glutamatergic synapse  GABA-ergic synapse  
Pathways : KEGGWnt signaling pathway    Notch signaling pathway    Pathways in cancer    Chronic myeloid leukemia   
NDEx NetworkCTBP1
Atlas of Cancer Signalling NetworkCTBP1
Wikipedia pathwaysCTBP1
Orthology - Evolution
OrthoDB1487
GeneTree (enSembl)ENSG00000159692
Phylogenetic Trees/Animal Genes : TreeFamCTBP1
HOGENOMQ13363
Homologs : HomoloGeneCTBP1
Homology/Alignments : Family Browser (UCSC)CTBP1
Gene fusions - Rearrangements
Fusion : MitelmanMAEA/CTBP1 [4p16.3/4p16.3]  
Fusion PortalMAEA 4p16.3 CTBP1 4p16.3 LAML
Fusion : QuiverCTBP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCTBP1 [hg38]
dbVarCTBP1
ClinVarCTBP1
MonarchCTBP1
1000_GenomesCTBP1 
Exome Variant ServerCTBP1
GNOMAD BrowserENSG00000159692
Varsome BrowserCTBP1
Genomic Variants (DGV)CTBP1 [DGVbeta]
DECIPHERCTBP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCTBP1 
Mutations
ICGC Data PortalCTBP1 
TCGA Data PortalCTBP1 
Broad Tumor PortalCTBP1
OASIS PortalCTBP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCTBP1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCTBP1
Mutations and Diseases : HGMDCTBP1
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 CTBP1
DgiDB (Drug Gene Interaction Database)CTBP1
DoCM (Curated mutations)CTBP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CTBP1 (select a term)
intoGenCTBP1
Cancer3DCTBP1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM194190    602618    617915   
Orphanet
DisGeNETCTBP1
MedgenCTBP1
Genetic Testing Registry CTBP1
NextProtQ13363 [Medical]
GENETestsCTBP1
Target ValidationCTBP1
Huge Navigator CTBP1 [HugePedia]
ClinGenCTBP1
Clinical trials, drugs, therapy
MyCancerGenomeCTBP1
Protein Interactions : CTD
Pharm GKB GenePA26995
PharosQ13363
Clinical trialCTBP1
Miscellaneous
canSAR (ICR)CTBP1 (select the gene name)
HarmonizomeCTBP1
DataMed IndexCTBP1
Probes
Litterature
PubMed231 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCTBP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jan 1 18:11:46 CET 2021

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