CTBP1
C-terminal-binding protein 1
Also known as: BARS, CTBP1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q13363
- Gene
- CTBP1
- Ensembl
- ENSG00000159692
- Chromosome
- 4
- Canonical length
- 440 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
440 residues, UniProt reviewed canonical sequence.
>Q13363|CTBP1
1 MGSSHLLNKG LPLGVRPPIM NGPLHPRPLV ALLDGRDCTV EMPILKDVAT VAFCDAQSTQ
61 EIHEKVLNEA VGALMYHTIT LTREDLEKFK ALRIIVRIGS GFDNIDIKSA GDLGIAVCNV
121 PAASVEETAD STLCHILNLY RRATWLHQAL REGTRVQSVE QIREVASGAA RIRGETLGII
181 GLGRVGQAVA LRAKAFGFNV LFYDPYLSDG VERALGLQRV STLQDLLFHS DCVTLHCGLN
241 EHNHHLINDF TVKQMRQGAF LVNTARGGLV DEKALAQALK EGRIRGAALD VHESEPFSFS
301 QGPLKDAPNL ICTPHAAWYS EQASIEMREE AAREIRRAIT GRIPDSLKNC VNKDHLTAAT
361 HWASMDPAVV HPELNGAAYR YPPGVVGVAP TGIPAAVEGI VPSAMSLSHG LPPVAHPPHA
421 PSPGQTVKPE ADRDHASDQLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CTBP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.36
- Highest tissue expression
- 185 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 185 nTPM
- skeletal muscle: 139 nTPM
- pancreas: 135 nTPM
- pituitary gland: 133 nTPM
- cerebral cortex: 132 nTPM
- hypothalamus: 120 nTPM
Single-cell type
- hepatocytes: 106 nCPM
- kupffer cells: 86 nCPM
- hepatic stellate cells: 84 nCPM
- mucous neck cells: 81 nCPM
- monocyte progenitors: 79 nCPM
- thymocytes: 78 nCPM
Immune cell
- plasmacytoid DC: 33 nTPM
- gdT-cell: 30 nTPM
- memory CD8 T-cell: 26 nTPM
- naive CD8 T-cell: 24 nTPM
- MAIT T-cell: 23 nTPM
- NK-cell: 23 nTPM
Brain region
- medulla oblongata: 207 nTPM
- cerebral cortex: 202 nTPM
- midbrain: 201 nTPM
- hypothalamus: 199 nTPM
- pons: 194 nTPM
- cerebellum: 191 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CTBP1.
Disease | AllUniProt
Conditions CTBP1 is implicated in, by any mechanism.
- Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS) MIM:617915
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 370 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
- Inborn genetic diseases
- Intellectual disability
Disease | ImmuneIEDB
Conditions an epitope on CTBP1 was assayed in.
- bladder urothelial carcinoma T cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.28
- gnomAD pLI
- 0.98
- gnomAD missense Z
- 3.31
- DepMap mean gene effect
- 0
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- negative regulation of cell population proliferation
- negative regulation of DNA-templated transcription
- negative regulation of transcription by RNA polymerase II
- Notch signaling pathway
- protein phosphorylation
- regulation of cell cycle
- regulation of transcription by RNA polymerase II
- synaptic vesicle clustering
- synaptic vesicle endocytosis
- viral genome replication
- white fat cell differentiation
Molecular functions
- chromatin binding
- DNA-binding transcription factor binding
- identical protein binding
- lncRNA binding
- NAD binding
- oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
- protein domain specific binding
- RNA polymerase II-specific DNA-binding transcription factor binding
- transcription coactivator activity
- transcription coregulator binding
- transcription corepressor activity
- transcription corepressor binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain
- D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain
- D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1
- D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site
- NAD(P)-binding domain superfamily
- C-terminal binding protein
- C-terminal-binding dehydrogenase
- D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain
- D-isomer specific 2-hydroxyacid dehydrogenase, NAD binding domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CTBP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CTBP1 as an antibody target. Whether an autoantibody or antibody against CTBP1 could matter depends on whether native CTBP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CTBP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CTBP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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