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

Summary

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: mouse all
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Genomic context

Location:: 4p16.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (1211445..1250355, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (1210608..1249282, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (1205233..1244143, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CTBP1 links metabolic syndrome to polycystic ovary syndrome through interruption of aromatase and SREBP1.
Title: CTBP1 links metabolic syndrome to polycystic ovary syndrome through interruption of aromatase and SREBP1.
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.
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.
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.
CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review.
Title: CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review.
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.
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.
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.
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.
Cryo-EM structure of CtBP2 confirms tetrameric architecture.
Title: Cryo-EM structure of CtBP2 confirms tetrameric architecture.

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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH18046 (e-PCR)
- UniSTS:33283

SHGC-156143 (e-PCR)
- UniSTS:183930

RH41962 (e-PCR)
- UniSTS:9604

D4S115 (e-PCR)
- UniSTS:147935

SHGC-148396 (e-PCR)
- UniSTS:176372

SHGC-35677 (e-PCR)
- UniSTS:1023

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor binding	IBA Inferred from Biological aspect of Ancestor more info
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
enables transcription coregulator binding	IBA Inferred from Biological aspect of Ancestor more info
enables transcription corepressor activity	IBA Inferred from Biological aspect of Ancestor more info
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 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 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 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
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
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

NG_052824.1 RefSeqGene

Range

6200..43885

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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/TrEMBL

Q4KMQ8

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
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, Q4W5N3, Q7Z2Q5

UniProtKB/TrEMBL

Q4KMQ8, 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
NM_001377186.1 → NP_001364115.1 C-terminal-binding protein 1 isoform 3

Status: REVIEWED

Source sequence(s)

AC092535

UniProtKB/TrEMBL

Q4KMQ8

Conserved Domains (1) summary

cd05299
Location:28 → 346

CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
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, Q4KMQ8

Conserved Domains (1) summary

cd05299
Location:17 → 335

CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
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, Q4KMQ8

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
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, Q4KMQ8

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
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, Q4KMQ8

Conserved Domains (1) summary

cd05299
Location:17 → 335

CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
NM_001377191.1 → NP_001364120.1 C-terminal-binding protein 1 isoform 2

Status: REVIEWED

Source sequence(s)

AC092535

Consensus CDS

CCDS43203.1

UniProtKB/TrEMBL

Q4KMQ8

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

Status: REVIEWED

Source sequence(s)

AC092535

Consensus CDS

CCDS43203.1

UniProtKB/TrEMBL

Q4KMQ8

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

Status: REVIEWED

Source sequence(s)

AC092535

Consensus CDS

CCDS43203.1

UniProtKB/TrEMBL

Q4KMQ8

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

1211445..1250355 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

H0Y8U5
XM_024453899.2 → XP_024309667.1 C-terminal-binding protein 1 isoform X2

UniProtKB/TrEMBL

Q4KMQ8

Conserved Domains (1) summary

cd05299
Location:7 → 272

CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor