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Trp53bp1 Gene Detail
Summary
  • Symbol
    Trp53bp1
  • Name
    transformation related protein 53 binding protein 1
  • Synonyms
    53BP1, p53BP1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351320
    NCBI Gene: 27223
Location & Maps
more
  • Sequence Map
    Chr2:121193281-121271407 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      78127 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    TP53BP1, tumor protein p53 binding protein 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    TP53BP1, tumor protein p53 binding protein 1
    Orthology source: HomoloGene
  • Synonyms
    53BP1, p202, p53BP1, TP53
  • Links
    NCBI Gene ID: 7158
    neXtProt AC: NX_Q12888

  • Chr Location
    15q15-q21; chr15:43403064-43510728 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    28 phenotypes from 2 alleles in 3 genetic backgrounds
    6 phenotypes from multigenic genotypes
    48 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
    32
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Gene trapped
    26
  • Radiation induced
    1
  • Targeted
    3
  • Genomic Mutations
    2 involving Trp53bp1
  • Incidental Mutations
Homozygous mutations in this gene result in growth retardation, immunodeficiency, thymic hypoplasia, and increased incidence of thymic lymphomas.
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 OTTMUSG00000015973 VEGA Gene Model | MGI Sequence Detail 78127 C57BL/6J ±  kb
transcript OTTMUST00000038042 VEGA | MGI Sequence Detail 9621 Not Applicable  
polypeptide OTTMUSP00000017066 VEGA | MGI Sequence Detail 1969 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    435 from dbSNP Build 137
Protein
Information
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  • UniProt
    14 Sequences
  • PDB
  • InterPro Domains
    IPR001357 BRCT domain
    IPR014722 Ribosomal protein L2 domain 2
    IPR015125 Tumour suppressor p53-binding protein-1 Tudor domain
Molecular
Reagents
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  • All nucleic 24
    cDNA 24

    Microarray probesets 8
References
more
  • Summaries
    All 111
    Developmental Gene Expression 17
    Gene Ontology 14
    Phenotypes 48
  • Earliest
    J:36914 Datta B, et al., p202, an interferon-inducible modulator of transcription, inhibits transcriptional activation by the p53 tumor suppressor protein, and a segment from the p53-binding protein 1 that binds to p202 overcomes this inhibition. J Biol Chem. 1996 Nov 1;271(44):27544-55
  • Latest
    J:224588 Kato Y, et al., FANCB is essential in the male germline and regulates H3K9 methylation on the sex chromosomes during meiosis. Hum Mol Genet. 2015 Sep 15;24(18):5234-49

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
02/02/2016
MGI 6.02
The Jackson Laboratory