2. Gene
  3. CTBP1 - C-terminal binding protein 1 Gene

CTBP1 - C-terminal binding protein 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as BARS; HADDTS

Gene ID: 1487 | Gene type: protein coding

About CTBP1

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:1,211,445-1,250,355 (from NCBI)

This gene has 23 transcripts (splice variants), 228 orthologues, 3 paralogues and is associated with 4 phenotypes. Ubiquitous expression in spleen (RPKM 9.3), prostate (RPKM 7.1) and 25 other tissues.

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]

CTBP1 Products(10)

mRNA Protein Name
NM_001012614.2 NP_001012632.1 C-terminal-binding protein 1 isoform 2
NM_001328.3 NP_001319.1 C-terminal-binding protein 1 isoform 1
NM_001377186.1 NP_001364115.1 C-terminal-binding protein 1 isoform 3
NM_001377187.1 NP_001364116.1 C-terminal-binding protein 1 isoform 4
NM_001377188.1 NP_001364117.1 C-terminal-binding protein 1 isoform 4
NM_001377189.1 NP_001364118.1 C-terminal-binding protein 1 isoform 4
NM_001377190.1 NP_001364119.1 C-terminal-binding protein 1 isoform 4
NM_001377191.1 NP_001364120.1 C-terminal-binding protein 1 isoform 2
NM_001377192.1 NP_001364121.1 C-terminal-binding protein 1 isoform 2
NM_001377193.1 NP_001364122.1 C-terminal-binding protein 1 isoform 2

CTBP1 Protein Structure

2-Hacid_dh

2-Hacid_dh: D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (38 - 351)

2-Hacid_dh_C

2-Hacid_dh_C: D-isomer specific 2-hydroxyacid dehydrogenase, NAD binding domain (134 - 317)

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  • 440 a.a.
Protein Preferred Names Protein Names

C-terminal-binding protein 1

brefeldin A-ribosylated substrate

Related Diseases

Diseases Alias
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome

HADDTS
Chromosome 4p Deletion

4p Partial Monosomy Syndrome

Chromosome 4 Short Arm Deletion

4p Deletion

4p Monosomy

Deletion 4p

Monosomy 4p

Partial Monosomy 4p

Wolf-Hirschhorn Syndrome

Chromosome 4 Short Arm Deletion Syndrome

Deletion Of Short Arm Of Chromosome 4
Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome

WHS

Chromosome 4p16.3 Deletion Syndrome

Wittwer Syndrome

4p- Syndrome

Pitt Syndrome

4p Deletion Syndrome

Distal Deletion 4p

Distal Monosomy 4p

Telomeric Deletion 4p

Prds

4p Syndrome

Chromosome 4p Syndrome

Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

Wolf Syndrome

Chromosome 4p Deletion Syndrome

Chromosome 4p Monosomy

Del Syndrome

Monosomy 4p

Partial Monosomy 4p

Chromosome 4 Short Arm Deletion
Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon
Hypotonia
Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]
Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour
Mowat-Wilson Syndrome

MOWS

Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease

Hirschsprung Disease-Mental Retardation Syndrome

Mowat-Wilson Syndrome Due To Monosomy 2q22

Hirschsprung Disease Mental Retardation Syndrome

Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease

Hirschsprung Disease - Intellectual Disability Syndrome

Hirschsprung Disease Intellectual Disability Syndrome

Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease

Mws

Hirschsprung Disease-Intellectual Disability Syndrome

Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion

Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22)

Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22

Mowat-Wilson Syndrome Due To 2q22 Microdeletion

Mowat-Wilson Syndrome Due To Del(2)Q(22)

Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation

Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-135046 MTOB sodium 98.24% Unkown
HY-RS03283 CTBP1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CTBP1 RGD RGD:2441
Bos taurus CTBP1 VGNC VGNC:27785
Canis familiaris CTBP1 VGNC VGNC:39686
Macaca mulatta CTBP1 VGNC VGNC:71539
Mus musculus CTBP1 MGD MGI:1201685
Felis catus CTBP1 VGNC VGNC:61242