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Protein Coding Gene : Trp53bp1 transformation related protein 53 binding protein 1

Primary Identifier  MGI:1351320 Organism  mouse, laboratory
Chromosome  2 NCBI Gene Number  27223
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables damaged DNA binding activity; methylated histone binding activity; and telomeric DNA binding activity. Involved in double-strand break repair via nonhomologous end joining; negative regulation of double-strand break repair via homologous recombination; and positive regulation of isotype switching. Acts upstream of or within DNA repair. Located in chromosome and nuclear body. Part of DNA repair complex. Is expressed in several structures, including ileum; liver; lung; nervous system; and sensory organ. Orthologous to human TP53BP1 (tumor protein p53 binding protein 1).
PHENOTYPE: Homozygous mutations in this gene result in growth retardation, immunodeficiency, thymic hypoplasia, and increased incidence of thymic lymphomas. [provided by MGI curators]
  • synonyms:
  • 53BP1,
  • transformation related protein 53 binding protein 1,
  • Trp53bp1,
  • p53BP1

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

17 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For