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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
Location & Maps
more
  • Sequence Map
    Chr16:4081328-4213407 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      132080 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    CREBBP, CREB binding protein
  • Vertebrate Orthologs
    12
  • Human Ortholog
    CREBBP, CREB binding protein
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CBP, KAT3A, RSTS
  • Links
    NCBI Gene ID: 1387
    neXtProt AC: NX_Q92793

  • Chr Location
    16p13.3; chr16:3725054-3880120 (-)  GRCh38.p2

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

Human Disease Mouse Models
       Rubinstein-Taybi Syndrome 1; RSTS1   OMIM: 180849 View 4 models
       Leukemia, Acute Myeloid; AML   OMIM: 601626 View 1 model
Myelodysplastic Syndrome; MDS   OMIM: 614286 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    131 phenotypes from 12 alleles in 15 genetic backgrounds
    13 phenotypes from multigenic genotypes
    2 images
    63 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
    34
  • Gene trapped
    20
  • Targeted
    13
  • Transgenic
    1
  • Incidental Mutations
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
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
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000048175 VEGA Gene Model | MGI Sequence Detail 132080 C57BL/6J ±  kb
transcript OTTMUST00000123704 VEGA | MGI Sequence Detail 10230 Not Applicable  
polypeptide OTTMUSP00000067477 VEGA | MGI Sequence Detail 2441 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    308 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
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  • All nucleic 22
    Genomic 1
    cDNA 18
    Primer pair 2
    Other 1

    Microarray probesets 4
Other
Accession IDs
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MGI:2146668
References
more
  • Summaries
    All 190
    Developmental Gene Expression 29
    Diseases 5
    Gene Ontology 51
    Phenotypes 63
  • Earliest
    J:34578 Chrivia JC, et al., Phosphorylated CREB binds specifically to the nuclear protein CBP. Nature. 1993 Oct 28;365(6449):855-9
  • Latest
    J:227300 Lin EE, et al., Aldo-keto reductase 1b7, a novel marker for renin cells, is regulated by cyclic AMP signaling. Am J Physiol Regul Integr Comp Physiol. 2015 Sep;309(5):R576-84

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory