This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gen... See more...

Aliases for CTBP1 Gene

Aliases for CTBP1 Gene

  • C-Terminal Binding Protein 1 2 3 5
  • Brefeldin A-Ribosylated Substrate 2 3
  • C-Terminal-Binding Protein 1 3 4
  • BARS 2 3
  • EC 1.1.1.158 51
  • EC 1.1.1.- 4
  • EC 1.1.1 51
  • HADDTS 3
  • CTBP1 5
  • CtBP1 4
  • CTBP 4

External Ids for CTBP1 Gene

Previous GeneCards Identifiers for CTBP1 Gene

  • GC04M001195
  • GC04M001158
  • GC04M001205
  • GC04M001173

Summaries for CTBP1 Gene

Entrez Gene Summary for CTBP1 Gene

  • This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gene expression during development. Alternative splicing of transcripts from this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

GeneCards Summary for CTBP1 Gene

CTBP1 (C-Terminal Binding Protein 1) is a Protein Coding gene. Diseases associated with CTBP1 include Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome and Wolf-Hirschhorn Syndrome. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is CTBP2.

UniProtKB/Swiss-Prot Summary for CTBP1 Gene

  • Corepressor targeting diverse transcription regulators such as GLIS2 or BCL6. Has dehydrogenase activity. Involved in controlling the equilibrium between tubular and stacked structures in the Golgi complex. Functions in brown adipose tissue (BAT) differentiation.

Gene Wiki entry for CTBP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CTBP1 Gene

Genomics for CTBP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CTBP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTBP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CTBP1

Top Transcription factor binding sites by QIAGEN in the CTBP1 gene promoter:
  • AREB6
  • ATF6
  • Egr-1
  • Meis-1a
  • Meis-1b
  • MIF-1
  • Nkx2-5
  • Nkx5-1
  • p300

Genomic Locations for CTBP1 Gene

Genomic Locations for CTBP1 Gene
chr4:1,211,444-1,250,355
(GRCh38/hg38)
Size:
38,912 bases
Orientation:
Minus strand
chr4:1,205,228-1,243,741
(GRCh37/hg19)
Size:
38,514 bases
Orientation:
Minus strand

Genomic View for CTBP1 Gene

Genes around CTBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTBP1 Gene

Proteins for CTBP1 Gene

  • Protein details for CTBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13363-CTBP1_HUMAN
    Recommended name:
    C-terminal-binding protein 1
    Protein Accession:
    Q13363
    Secondary Accessions:
    • Q4W5N3
    • Q7Z2Q5

    Protein attributes for CTBP1 Gene

    Size:
    440 amino acids
    Molecular mass:
    47535 Da
    Cofactor:
    Name=NAD(+); Xref=ChEBI:CHEBI:57540;
    Quaternary structure:
    • Homo- or heterodimer. Heterodimer with CTBP2. Interacts with PRDM16; the interaction represses white adipose tissue (WAT)-specific genes expression. Interacts with GLIS2, FOXP2, HDAC4, HDAC5, HDAC9 and ZNF217. Interacts with ELK3 (via its PXDLS motif). Interacts with RBBP8 (via its PXDLS motif); the interaction is disrupted by binding to adenovirus E1A. Interacts with FOXP1, HIPK2, PNN, NRIP1, MECOM, ZFHX1B and WIZ. Interacts with ZNF366 (via PXDLS motif) (PubMed:16393996, PubMed:17085477). Interaction with SATB1 (non-acetylated form); the interaction stabilizes its attachment to DNA and promotes transcription repression. Interacts with BCL6; the interaction is required for BCL6 transcriptional autoinhibition and inhibition of some BCL6 target genes. Interacts with IKZF4 (By similarity). Interacts with MCRIP1 (unphosphorylated form, via the PXDLS motif); competitively inhibiting CTBP-ZEB1 interaction (PubMed:25728771). Interacts with Bassoon/BSN; this interaction targets and anchors CTBP1 to presynapses (By similarity).
    • (Microbial infection) Interacts with Epstein-Barr virus EBNA3 and EBNA6.
    • (Microbial infection) Interacts with adenovirus E1A protein (via its C-terminus); the interaction disrupts the interaction of CTBP1 with RBBP8.
    • (Microbial infection) Interacts with human adenovirus 5 E1A protein; this interaction seems to potentiate viral replication.

    Three dimensional structures from OCA and Proteopedia for CTBP1 Gene

    Alternative splice isoforms for CTBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CTBP1 Gene

Selected DME Specific Peptides for CTBP1 Gene

Q13363:
  • ITLTREDL
  • KQMRQGAFLVNTARGGLVDEKALAQALKEGRIRGAALDVH
  • PAAVEGIVPSAMSLSH
  • VAHPPHAPSPGQT
  • QGPLKDAPNLICTPHAAWYSEQASIEMREEAAREIRRAIT

Post-translational modifications for CTBP1 Gene

  • The level of phosphorylation appears to be regulated during the cell cycle. Phosphorylation by HIPK2 on Ser-422 induces proteasomal degradation.
  • ADP-ribosylated; when cells are exposed to brefeldin A.
  • Sumoylation on Lys-428 is promoted by the E3 SUMO-protein ligase CBX4.
  • Ubiquitination at Lys194
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for CTBP1

Domains & Families for CTBP1 Gene

Gene Families for CTBP1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CTBP1 Gene

InterPro:
Blocks:
  • D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain
ProtoNet:

Suggested Antigen Peptide Sequences for CTBP1 Gene

GenScript: Design optimal peptide antigens:
  • C-terminal-binding protein 1 (CTBP1_HUMAN)
  • C-terminal binding protein 1 (Q4KMQ8_HUMAN)
  • CTBP1 protein (Q6IP95_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13363

UniProtKB/Swiss-Prot:

CTBP1_HUMAN :
  • Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.
Family:
  • Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.
genes like me logo Genes that share domains with CTBP1: view

Function for CTBP1 Gene

Molecular function for CTBP1 Gene

UniProtKB/Swiss-Prot Function:
Corepressor targeting diverse transcription regulators such as GLIS2 or BCL6. Has dehydrogenase activity. Involved in controlling the equilibrium between tubular and stacked structures in the Golgi complex. Functions in brown adipose tissue (BAT) differentiation.
GENATLAS Biochemistry:
C terminal binding protein 1,48kDa

Enzyme Numbers (IUBMB) for CTBP1 Gene

Phenotypes From GWAS Catalog for CTBP1 Gene

Gene Ontology (GO) - Molecular Function for CTBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IEA --
GO:0003714 transcription corepressor activity IDA 16287852
GO:0005515 protein binding IPI 11568182
GO:0008022 protein C-terminus binding TAS 8440238
GO:0008134 transcription factor binding IEA,IPI 16609867
genes like me logo Genes that share ontologies with CTBP1: view
genes like me logo Genes that share phenotypes with CTBP1: view

Human Phenotype Ontology for CTBP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CTBP1 Gene

MGI Knock Outs for CTBP1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTBP1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for CTBP1 Gene

Localization for CTBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTBP1 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTBP1 gene
Compartment Confidence
nucleus 5
mitochondrion 3
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endosome 2
golgi apparatus 2
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CTBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IEA --
GO:0017053 transcriptional repressor complex IEA,ISS --
GO:0098831 presynaptic active zone cytoplasmic component IEA --
genes like me logo Genes that share ontologies with CTBP1: view

Pathways & Interactions for CTBP1 Gene

genes like me logo Genes that share pathways with CTBP1: view

Pathways by source for CTBP1 Gene

1 GeneGo (Thomson Reuters) pathway for CTBP1 Gene
  • Development Ligand-dependent activation of the ESR1/AP-1 pathway
1 R&D Systems pathway for CTBP1 Gene
2 Qiagen pathways for CTBP1 Gene
  • GSK3 Signaling
  • SMAD Signaling Network
2 Cell Signaling Technology pathways for CTBP1 Gene

SIGNOR curated interactions for CTBP1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CTBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA,IMP 19162039
GO:0006342 chromatin silencing IMP 21102443
GO:0006468 protein phosphorylation TAS 8440238
GO:0008285 negative regulation of cell proliferation TAS 7479821
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with CTBP1: view

Drugs & Compounds for CTBP1 Gene

(7) Drugs for CTBP1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Formic acid Experimental, Investigational Pharma Target 0
NAD Experimental Pharma Agonist, Full agonist, Activator 0

(2) Additional Compounds for CTBP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CTBP1: view

Transcripts for CTBP1 Gene

mRNA/cDNA for CTBP1 Gene

10 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTBP1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CTBP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c · 12d · 12e ^ 13 ^ 14a · 14b ^ 15a ·
SP1: - - - - - -
SP2: - - - - - - - - -
SP3: -
SP4: - - - - -
SP5: - - - -
SP6: - - - - - - - -
SP7: - - - -
SP8: - - - - - - - - - - - - - - - - - -
SP9: -
SP10: - - - - - - - - -
SP11: - - - - - -
SP12:
SP13: -
SP14: - - - - - - - - - - - -
SP15: - - - - - - - - -
SP16:

ExUns: 15b ^ 16 ^ 17 ^ 18a · 18b · 18c
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11: -
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for CTBP1 Gene

GeneLoc Exon Structure for
CTBP1

Expression for CTBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CTBP1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CTBP1 Gene



Protein tissue co-expression partners for CTBP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CTBP1

SOURCE GeneReport for Unigene cluster for CTBP1 Gene:

Hs.208597

mRNA Expression by UniProt/SwissProt for CTBP1 Gene:

Q13363-CTBP1_HUMAN
Tissue specificity: Expressed in germinal center B-cells.

Evidence on tissue expression from TISSUES for CTBP1 Gene

  • Nervous system(4.9)
  • Lung(4.6)
  • Liver(4.5)
  • Eye(3.2)
  • Skin(3.1)
  • Kidney(3)
  • Intestine(2.9)
  • Muscle(2.8)
  • Blood(2.7)
  • Heart(2.7)
  • Lymph node(2.7)
  • Spleen(2.7)
  • Thyroid gland(2.6)
  • Pancreas(2.6)
  • Stomach(2.4)
  • Bone marrow(2.4)
  • Adrenal gland(2.4)
genes like me logo Genes that share expression patterns with CTBP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CTBP1 Gene

Orthologs for CTBP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CTBP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CTBP1 30 31
  • 98.67 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CTBP1 31
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CTBP1 31
  • 95 (a)
OneToOne
LOC612240 30
  • 89.75 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CTBP1 31
  • 93 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CTBP1 30 31
  • 90.48 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ctbp1 30 17 31
  • 88.56 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ctbp1 30
  • 88.52 (n)
Chicken
(Gallus gallus)
Aves CTBP1 30 31
  • 79.16 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CTBP1 31
  • 96 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ctbp1 30
  • 78.71 (n)
African clawed frog
(Xenopus laevis)
Amphibia ctbp1-A 30
Zebrafish
(Danio rerio)
Actinopterygii CTBP1 31
  • 91 (a)
OneToOne
zgc:136929 30
  • 79.04 (n)
ctbp1 30
Fruit Fly
(Drosophila melanogaster)
Insecta CtBP 31 32
  • 57 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ctbp-1 30 31
  • 53.09 (n)
OneToMany
F49E10.5 32
  • 53 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SER3 31
  • 20 (a)
ManyToMany
SER33 31
  • 20 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9232 31
  • 63 (a)
OneToMany
Species where no ortholog for CTBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CTBP1 Gene

ENSEMBL:
Gene Tree for CTBP1 (if available)
TreeFam:
Gene Tree for CTBP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CTBP1: view image

Paralogs for CTBP1 Gene

Paralogs for CTBP1 Gene

(2) SIMAP similar genes for CTBP1 Gene using alignment to 12 proteins:

  • CTBP1_HUMAN
  • D6RAX2_HUMAN
  • E7EPF8_HUMAN
  • E7ESU7_HUMAN
  • E7EUB3_HUMAN
  • E9PGB1_HUMAN
  • H0Y8U5_HUMAN
  • H0Y8W7_HUMAN
  • H0Y913_HUMAN
  • H0Y9M9_HUMAN
  • Q4KMQ8_HUMAN
  • Q6IP95_HUMAN
genes like me logo Genes that share paralogs with CTBP1: view

Variants for CTBP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CTBP1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
710425 Likely Benign: not provided 1,225,550(-) G/A SYNONYMOUS_VARIANT
716741 Likely Benign: not provided 1,213,609(-) G/C INTRON_VARIANT
720261 Likely Benign: not provided 1,228,296(-) G/C SYNONYMOUS_VARIANT
723562 Benign: not provided 1,216,214(-) G/A NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
724252 Likely Benign: not provided 1,238,189(-) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CTBP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CTBP1 Gene

Variant ID Type Subtype PubMed ID
dgv2704n106 CNV deletion 24896259
dgv2912e59 CNV duplication 20981092
dgv636n27 CNV loss 19166990
dgv8890n54 CNV loss 21841781
dgv8891n54 CNV loss 21841781
dgv8892n54 CNV loss 21841781
dgv8893n54 CNV gain 21841781
dgv8894n54 CNV loss 21841781
esv1540743 CNV insertion 17803354
esv1720969 CNV insertion 17803354
esv24472 CNV gain 19812545
esv2726769 CNV deletion 23290073
esv27609 CNV loss 19812545
esv3569245 CNV loss 25503493
esv3569246 CNV loss 25503493
nsv478768 CNV novel sequence insertion 20440878
nsv508988 CNV insertion 20534489
nsv593278 CNV loss 21841781
nsv593281 CNV loss 21841781
nsv593282 CNV gain 21841781
nsv593286 CNV gain 21841781
nsv593287 CNV gain 21841781
nsv593290 CNV loss 21841781
nsv593291 CNV gain+loss 21841781
nsv593293 CNV loss 21841781
nsv822425 CNV loss 20364138
nsv822430 CNV loss 20364138
nsv822432 CNV gain 20364138
nsv822433 CNV gain 20364138
nsv829835 CNV gain 17160897
nsv950331 CNV deletion 24416366

Variation tolerance for CTBP1 Gene

Residual Variation Intolerance Score: 26.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.57; 12.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTBP1 Gene

Human Gene Mutation Database (HGMD)
CTBP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTBP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTBP1 Gene

Disorders for CTBP1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CTBP1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
  • haddts
wolf-hirschhorn syndrome
  • whs
hypotonia
colon adenoma
  • adenomatous polyp of colon
holoprosencephaly
  • holoprosencephaly sequence
- elite association - COSMIC cancer census association via MalaCards
Search CTBP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CTBP1_HUMAN
  • Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS) [MIM:617915]: An autosomal dominant disorder characterized by delayed motor development, intellectual disability, failure to thrive, hypotonia, ataxia, and tooth enamel defects. {ECO:0000269 PubMed:27094857}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CTBP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CTBP1: view

No data available for Genatlas for CTBP1 Gene

Publications for CTBP1 Gene

  1. Acetylation-dependent interaction of SATB1 and CtBP1 mediates transcriptional repression by SATB1. (PMID: 19103759) Purbey PK … Galande S (Molecular and cellular biology 2009) 3 4 23
  2. CtBP is an essential corepressor for BCL6 autoregulation. (PMID: 18212045) Mendez LM … Ye BH (Molecular and cellular biology 2008) 3 4 23
  3. Pc2-mediated sumoylation of Smad-interacting protein 1 attenuates transcriptional repression of E-cadherin. (PMID: 16061479) Long J … Park M (The Journal of biological chemistry 2005) 3 4 23
  4. Multiple domains of the Receptor-Interacting Protein 140 contribute to transcription inhibition. (PMID: 15060175) Castet A … Cavaillès V (Nucleic acids research 2004) 3 4 23
  5. Nuclear speckle-associated protein Pnn/DRS binds to the transcriptional corepressor CtBP and relieves CtBP-mediated repression of the E-cadherin gene. (PMID: 15542832) Alpatov R … Sugrue SP (Molecular and cellular biology 2004) 3 4 23

Products for CTBP1 Gene

Sources for CTBP1 Gene