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Crebbp Gene Detail
Summary
  • Symbol
    Crebbp
  • Name
    CREB binding protein
  • Synonyms
    CBP, KAT3A
  • Feature Type
    protein coding gene
  • IDs
    MGI:1098280
    NCBI Gene: 12914
  • Gene Overview
    MyGene.info: CREBBP
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr16:4081328-4213997 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      132670 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 2.40 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    CREBBP, CREB binding protein
  • Vertebrate Orthologs
    12
  • Human Ortholog
    CREBBP, CREB binding protein
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CBP, KAT3A, RSTS, RSTS1
  • Links
    NCBI Gene ID: 1387
    neXtProt AC: NX_Q92793
    UniProt: Q92793

  • Chr Location
    16p13.3; chr16:3725054-3880727 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    4 with Crebbp mouse models; 1 with human CREBBP associations

Human Disease Mouse Models
      
IDs
View 4 models
      
IDs
View 1 model
IDs
View 1 model
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    148 phenotypes from 12 alleles in 16 genetic backgrounds
    13 phenotypes from multigenic genotypes
    2 images
    72 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for null or altered alleles die around midgestation with defects in hemopoiesis, blood vessel formation, and neural tube closure. Heterozygotes may exhibit skeletal, cardiac, and hematopoietic defects, retarded growth, and hematologic tumors.
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 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
  • Comparison Matrix
  • Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000048175 VEGA Gene Model | MGI Sequence Detail 132670 C57BL/6J ±  kb
    transcript OTTMUST00000123704 VEGA | MGI Sequence Detail 10820 Not Applicable  
    polypeptide OTTMUSP00000067477 VEGA | MGI Sequence Detail 2441 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      308 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 23
      Genomic 1
      cDNA 19
      Primer pair 2
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2146668
    References
    more
    • Summaries
      All 254
      Developmental Gene Expression 32
      Diseases 6
      Gene Ontology 67
      Phenotypes 72
    • Earliest
      J:9318 Kozak LP, et al., The mitochondrial uncoupling protein gene. Correlation of exon structure to transmembrane domains. J Biol Chem. 1988 Sep 5;263(25):12274-7
    • Latest
      J:257516 Wong CK, et al., The p300 and CBP Transcriptional Coactivators Are Required for beta-Cell and alpha-Cell Proliferation. Diabetes. 2018 Mar;67(3):412-422

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory