About   Help   FAQ
Crebbp Gene Detail
Summary
  • Symbol
    Crebbp
  • Name
    CREB binding protein
  • Synonyms
    CBP, KAT3A
  • Feature Type
    protein coding gene
  • IDs
    MGI:1098280
    NCBI Gene: 12914
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:3899198-4031864 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 2.40 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2061 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1098280
 protein coding gene Chr16:3899192-4031864 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022461
 protein coding gene Chr16:542798-680449 (-)
A/J MGP_AJ_G0022423
 protein coding gene Chr16:411369-545548 (-)
AKR/J MGP_AKRJ_G0022400
 protein coding gene Chr16:551789-686904 (-)
BALB/cJ MGP_BALBcJ_G0022428
 protein coding gene Chr16:536099-679987 (-)
C3H/HeJ MGP_C3HHeJ_G0022195
 protein coding gene Chr16:587175-727103 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022877
 protein coding gene Chr16:598239-738086 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020398
 protein coding gene Chr16:357021-489351 (-)
CAST/EiJ MGP_CASTEiJ_G0021721
 protein coding gene Chr16:554688-698503 (-)
CBA/J MGP_CBAJ_G0022164
 protein coding gene Chr16:663074-810744 (-)
DBA/2J MGP_DBA2J_G0022295
 protein coding gene Chr16:514414-648689 (-)
FVB/NJ MGP_FVBNJ_G0022270
 protein coding gene Chr16:484888-622103 (-)
LP/J MGP_LPJ_G0022363
 protein coding gene Chr16:547997-686434 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022292
 protein coding gene Chr16:547028-690758 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022889
 protein coding gene Chr16:525798-665506 (-)
PWK/PhJ MGP_PWKPhJ_G0021461
 protein coding gene Chr16:557867-694020 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021292
 protein coding gene Chr16:613211-757600 (-)
WSB/EiJ MGP_WSBEiJ_G0021770
 protein coding gene Chr16:553784-688135 (-)



Homology
more
  • Human Ortholog
    CREBBP, CREB binding protein
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CREBBP, CREB binding protein
  • Synonyms
    CBP, KAT3A, MKHK1, RSTS, RSTS1
  • Links
    NCBI Gene ID: 1387
    neXtProt AC: NX_Q92793
    UniProt: Q92793

  • Chr Location
    16p13.3; chr16:3725054-3880713 (-)  GRCh38
Human Diseases
more
  • Diseases
    4 with Crebbp mouse models; 3 with human CREBBP associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 4 models
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
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
less
  • Phenotype Summary
    148 phenotypes from 12 alleles in 16 genetic backgrounds
    13 phenotypes from multigenic genotypes
    2 images
    103 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
less
  • All GO Annotations
    164
  • GO References
    74
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    949
  • Tissues
    174
  • cDNA Data
    21
  • Literature Summary
    44
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12914 NCBI Gene Model | MGI Sequence Detail 132667 C57BL/6J ±  kb
    transcript NM_001025432 RefSeq | MGI Sequence Detail 7507 C57BL/6  
    polypeptide P45481 UniProt | EBI | MGI Sequence Detail 2441 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 32
      Genomic 1
      cDNA 22
      Primer pair 7
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2146668
    References
    more
    • Summaries
      All 310
      Developmental Gene Expression 44
      Diseases 6
      Gene Ontology 74
      Phenotypes 103
    • 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:346861 Li J, et al., Loss of CREBBP and KMT2D cooperate to accelerate lymphomagenesis and shape the lymphoma immune microenvironment. Nat Commun. 2024 Apr 3;15(1):2879
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    10/22/2024
    MGI 6.24     		The Jackson Laboratory