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Ctbp1 Gene Detail
Summary
  • Symbol
    Ctbp1
  • Name
    C-terminal binding protein 1
  • Synonyms
    BARS, CtBP1-L, CtBP1-S, CtBP3/BARS, D4S115h, D5H4S115
  • Feature Type
    protein coding gene
  • IDs
    MGI:1201685
    NCBI Gene: 13016
  • Gene Overview
    MyGene.info: CTBP1
Location & Maps
more
  • Sequence Map
    Chr5:33247723-33274994 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      27272 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    CTBP1, C-terminal binding protein 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CTBP1, C-terminal binding protein 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BARS
  • Links
    NCBI Gene ID: 1487
    neXtProt AC: NX_Q13363

  • Chr Location
    4p16; chr4:1211440-1250248 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human CTBP1 associations

Human Disease Mouse Models
       Wolf-Hirschhorn Syndrome; WHS   OMIM: 194190
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    19 phenotypes from multigenic genotypes
    28 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    19
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    2
  • Gene trapped
    11
  • Radiation induced
    3
  • Spontaneous
    1
  • Targeted
    1
  • Genomic Mutations
    7 involving Ctbp1
  • Incidental Mutations
Mice homozygous for a knock-out allele display partial postnatal lethality and decreased body size.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000055360 VEGA Gene Model | MGI Sequence Detail 27272 C57BL/6J ±  kb
transcript OTTMUST00000137055 VEGA | MGI Sequence Detail 2279 Not Applicable  
polypeptide OTTMUSP00000072233 VEGA | MGI Sequence Detail 441 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    103 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    15 Sequences
  • Protein Ontology
    PR:000005994 C-terminal-binding protein 1
  • EC
  • InterPro Domains
    IPR006139 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain
    IPR006140 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain
    IPR029753 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site
    IPR029752 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1
    IPR016040 NAD(P)-binding domain
Molecular
Reagents
less
  • All nucleic 210
    cDNA 210

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-16717, MGD-MRK-6985, MGD-MRK-7054, MGI:93155
References
more
  • Summaries
    All 65
    Developmental Gene Expression 8
    Diseases 1
    Gene Ontology 16
    Phenotypes 28
  • Earliest
    J:496 Koizumi T, et al., Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes. Mamm Genome. 1992;3(1):23-7
  • Latest
    J:225226 Dykes IM, et al., HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region. Circ Res. 2014 Jun 20;115(1):23-31

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory