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CTBP1 C-terminal binding protein 1 [ Homo sapiens (human) ]

Gene ID: 1487, updated on 29-Mar-2023

Summary

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Official Symbol
CTBP1provided by HGNC
Official Full Name
C-terminal binding protein 1provided by HGNC
Primary source
HGNC:HGNC:2494
See related
Ensembl:ENSG00000159692 MIM:602618; AllianceGenome:HGNC:2494
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BARS; HADDTS
Summary
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]
Expression
Ubiquitous expression in spleen (RPKM 9.3), prostate (RPKM 7.1) and 25 other tissues See more
Orthologs
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Genomic context

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See CTBP1 in Genome Data Viewer
Location:
4p16.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (1211445..1250355, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (1210608..1249282, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (1205233..1244143, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene nascent polypeptide-associated complex subunit alpha, muscle-specific form-like Neighboring gene spondin 2 Neighboring gene uncharacterized LOC100130872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1193431-1193980 Neighboring gene uncharacterized LOC124900164 Neighboring gene CTBP1 antisense RNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1227715-1228270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1233764-1234264 Neighboring gene CTBP1 divergent transcript Neighboring gene uncharacterized LOC105374347 Neighboring gene uncharacterized LOC105374346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1288606-1289569 Neighboring gene macrophage erythroblast attacher, E3 ubiquitin ligase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Exome sequencing identified a de novo frameshift pathogenic variant of CTBP1 in an extremely rare case of HADDTS. Jafari Khamirani H, et al. J Genet, 2021. PMID 34608870
  2. CircIMMP2L promotes esophageal squamous cell carcinoma malignant progression via CtBP1 nuclear retention dependent epigenetic modification. Liang Y, et al. Clin Transl Med, 2021 Sep. PMID 34586741, Free PMC Article
  3. CtBP1 promotes tumour-associated macrophage infiltration and progression in non-small-cell lung cancer. Wang Z, et al. J Cell Mol Med, 2020 Oct. PMID 32910558, Free PMC Article
  4. CtBP determines ovarian cancer cell fate through repression of death receptors. Ding B, et al. Cell Death Dis, 2020 Apr 24. PMID 32332713, Free PMC Article
  5. CtBP1 transactivates RAD51 and confers cisplatin resistance to breast cancer cells. Deng Y, et al. Mol Carcinog, 2020 May. PMID 32124501

See all (288) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Elevation of hsa-miR-7-5p level mediated by CtBP1-p300-AP1 complex targets ATXN1 to trigger NF-kappaB-dependent inflammation response.
    Title: Elevation of hsa-miR-7-5p level mediated by CtBP1-p300-AP1 complex targets ATXN1 to trigger NF-κB-dependent inflammation response.
  2. The CRL4[DCAF6] E3 ligase ubiquitinates CtBP1/2 to induce apoptotic signalling and promote intervertebral disc degeneration.
    Title: The CRL4(DCAF6) E3 ligase ubiquitinates CtBP1/2 to induce apoptotic signalling and promote intervertebral disc degeneration.
  3. Succinylation of CTBP1 mediated by KAT2A suppresses its inhibitory activity on the transcription of CDH1 to promote the progression of prostate cancer.
    Title: Succinylation of CTBP1 mediated by KAT2A suppresses its inhibitory activity on the transcription of CDH1 to promote the progression of prostate cancer.
  4. CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review.
    Title: CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review.
  5. NADH/NAD(+) binding and linked tetrameric assembly of the oncogenic transcription factors CtBP1 and CtBP2.
    Title: NADH/NAD(+) binding and linked tetrameric assembly of the oncogenic transcription factors CtBP1 and CtBP2.
  6. CircIMMP2L promotes esophageal squamous cell carcinoma malignant progression via CtBP1 nuclear retention dependent epigenetic modification.
    Title: CircIMMP2L promotes esophageal squamous cell carcinoma malignant progression via CtBP1 nuclear retention dependent epigenetic modification.
  7. Exome sequencing identified a de novo frameshift pathogenic variant of CTBP1 in an extremely rare case of HADDTS.
    Title: Exome sequencing identified a de novo frameshift pathogenic variant of CTBP1 in an extremely rare case of HADDTS.
  8. Downregulation of HERC5 E3 ligase attenuates the ubiquitination of CtBP1 to inhibit apoptosis in colorectal cancer cells.
    Title: Downregulation of HERC5 E3 ligase attenuates the ubiquitination of CtBP1 to inhibit apoptosis in colorectal cancer cells.
  9. Cryo-EM structure of CtBP2 confirms tetrameric architecture.
    Title: Cryo-EM structure of CtBP2 confirms tetrameric architecture.
  10. NAD(H) phosphates mediate tetramer assembly of human C-terminal binding protein (CtBP).
    Title: NAD(H) phosphates mediate tetramer assembly of human C-terminal binding protein (CtBP).
Submit: New GeneRIF Correction See all GeneRIFs (116)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
4p partial monosomy syndrome
MedGen: C1956097 OMIM: 194190 GeneReviews: Not available
Compare labs
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
MedGen: C4693578 OMIM: 617915 GeneReviews: Not available
Compare labs

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of C-terminal binding protein 1 (CTBP1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC104684

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables NAD binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables RNA polymerase II-specific DNA-binding transcription factor binding IEA
Inferred from Electronic Annotation
more info
  
enables chromatin binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein domain specific binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein domain specific binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables transcription coregulator binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables transcription corepressor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription corepressor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in heterochromatin formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of cell population proliferation TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of histone H4 acetylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of histone acetylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of histone deacetylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein phosphorylation TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of cell cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in synaptic vesicle clustering IEA
Inferred from Electronic Annotation
more info
  
involved_in synaptic vesicle endocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in viral genome replication TAS
Traceable Author Statement
more info
 PubMed 
involved_in white fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in presynaptic active zone cytoplasmic component IEA
Inferred from Electronic Annotation
more info
  
part_of transcription repressor complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of transcription repressor complex ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
C-terminal-binding protein 1
Names
brefeldin A-ribosylated substrate

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_052824.1 RefSeqGene

    Range
    6200..43885
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001012614.2 → NP_001012632.1  C-terminal-binding protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001012632.1

    Status: REVIEWED

    Source sequence(s)
    AC092535, BC011655, BC053320, BM989059, BU553431
    Consensus CDS
    CCDS43203.1
    UniProtKB/Swiss-Prot
    Q13363
    Related
    ENSP00000372411.3, ENST00000382952.8
    Conserved Domains (1) summary
    cd05299
    Location:17 → 335
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor

  2. NM_001328.3 → NP_001319.1  C-terminal-binding protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001319.1

    Status: REVIEWED

    Source sequence(s)
    AC092535, BC011655, BM989059, BU553431, U37408
    Consensus CDS
    CCDS3348.1
    UniProtKB/Swiss-Prot
    Q13363, Q7Z2Q5
    UniProtKB/TrEMBL
    X5D8Y5
    Related
    ENSP00000290921.6, ENST00000290921.10
    Conserved Domains (1) summary
    cd05299
    Location:28 → 346
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor

  3. NM_001377186.1 → NP_001364115.1  C-terminal-binding protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC092535
    Conserved Domains (1) summary
    cd05299
    Location:28 → 346
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor

  4. NM_001377187.1 → NP_001364116.1  C-terminal-binding protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC092535
    Consensus CDS
    CCDS93461.1
    UniProtKB/TrEMBL
    H0Y8U5
    Conserved Domains (1) summary
    cd05299
    Location:17 → 335
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor

  5. NM_001377188.1 → NP_001364117.1  C-terminal-binding protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC092535
    Consensus CDS
    CCDS93461.1
    UniProtKB/TrEMBL
    H0Y8U5
    Related
    ENSP00000515212.1, ENST00000703164.1
    Conserved Domains (1) summary
    cd05299
    Location:17 → 335
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor

  6. NM_001377189.1 → NP_001364118.1  C-terminal-binding protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC092535
    Consensus CDS
    CCDS93461.1
    UniProtKB/TrEMBL
    H0Y8U5
    Related
    ENSP00000422148.2, ENST00000503594.6
    Conserved Domains (1) summary
    cd05299
    Location:17 → 335
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor

  7. NM_001377190.1 → NP_001364119.1  C-terminal-binding protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC092535
    Consensus CDS
    CCDS93461.1
    UniProtKB/TrEMBL
    H0Y8U5
    Conserved Domains (1) summary
    cd05299
    Location:17 → 335
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor

  8. NM_001377191.1 → NP_001364120.1  C-terminal-binding protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC092535
    Consensus CDS
    CCDS43203.1
    Related
    ENSP00000515211.1, ENST00000703163.1
    Conserved Domains (1) summary
    cd05299
    Location:17 → 335
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor

  9. NM_001377192.1 → NP_001364121.1  C-terminal-binding protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC092535
    Consensus CDS
    CCDS43203.1
    Related
    ENSP00000515195.1, ENST00000703138.1
    Conserved Domains (1) summary
    cd05299
    Location:17 → 335
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor

  10. NM_001377193.1 → NP_001364122.1  C-terminal-binding protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC092535
    Consensus CDS
    CCDS43203.1
    Conserved Domains (1) summary
    cd05299
    Location:17 → 335
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    1211445..1250355 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047449633.1 → XP_047305589.1  C-terminal-binding protein 1 isoform X1

    UniProtKB/TrEMBL
    H0Y8U5

  2. XM_024453899.2 → XP_024309667.1  C-terminal-binding protein 1 isoform X2

    Conserved Domains (1) summary
    cd05299
    Location:7 → 272
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    1210608..1249282 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13363.2 GenPept UniProtKB/Swiss-Prot:Q13363

Gene LinkOut

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