Trp53bp1 MGI Mouse Gene Detail - MGI:1351320 - transformation related protein 53 binding protein 1

Symbol

Trp53bp1
Name

transformation related protein 53 binding protein 1
Synonyms

53BP1, p53BP1

Feature Type

protein coding gene
IDs

MGI:1351320
NCBI Gene: 27223
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr2:121023762-121101888 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 60.37 cM
Mapping Data

2 experiments

SNPs within 2kb

1517 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1351320	protein coding gene	Chr2:121023762-121126830 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0026385	protein coding gene	Chr2:124077995-124157822 (-)
A/J	MGP_AJ_G0026346	protein coding gene	Chr2:119002162-119078751 (-)
AKR/J	MGP_AKRJ_G0026325	protein coding gene	Chr2:122347015-122426689 (-)
BALB/cJ	MGP_BALBcJ_G0026359	protein coding gene	Chr2:119240104-119316653 (-)
C3H/HeJ	MGP_C3HHeJ_G0026105	protein coding gene	Chr2:122826771-122906169 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0026806	protein coding gene	Chr2:128145144-128226921 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024186	protein coding gene	Chr2:114048186-114126119 (-)
CAST/EiJ	MGP_CASTEiJ_G0025567	protein coding gene	Chr2:123147855-123227405 (-)
CBA/J	MGP_CBAJ_G0026081	protein coding gene	Chr2:132615481-132691221 (-)
DBA/2J	MGP_DBA2J_G0026220	protein coding gene	Chr2:118403013-118480181 (-)
FVB/NJ	MGP_FVBNJ_G0026182	protein coding gene	Chr2:117222576-117298786 (-)
LP/J	MGP_LPJ_G0026321	protein coding gene	Chr2:124337616-124415076 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026201	protein coding gene	Chr2:136901736-136978988 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026861	protein coding gene	Chr2:122462408-122540858 (-)
PWK/PhJ	MGP_PWKPhJ_G0025303	protein coding gene	Chr2:118008505-118090110 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0025102	protein coding gene	Chr2:121679539-121755814 (-)
WSB/EiJ	MGP_WSBEiJ_G0025636	protein coding gene	Chr2:123291776-123370474 (-)

Human Ortholog

TP53BP1, tumor protein p53 binding protein 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TP53BP1, tumor protein p53 binding protein 1
Synonyms

53BP1, p202, p53BP1, TDRD30
Links

HGNC:11999

NCBI Gene ID: 7158

neXtProt AC: NX_Q12888

UniProt: Q12888
Chr Location

15q15.3; chr15:43403061-43510728 (-) GRCh38

MGI Vertebrate Homology

Trp53bp1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: TP53BP1
Gene Tree

Trp53bp1

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Phenotype Summary

35 phenotypes from 6 alleles in 7 genetic backgrounds
8 phenotypes from multigenic genotypes
89 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

42
Chemically induced (ENU)

6
Chemically induced (other)

1
Endonuclease-mediated

7
Gene trapped

23
Radiation induced

1
Targeted

4
Genomic Mutations

2 involving Trp53bp1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

100 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutations in this gene result in growth retardation, immunodeficiency, thymic hypoplasia, and increased incidence of thymic lymphomas.

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All GO Annotations

60
GO References

24

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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

896
Tissues

36
cDNA Data

24
Literature Summary

39

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN tp53bp1

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All Sequences

141
RefSeq

54
UniProt

13
CCDS

CCDS50684.1, CCDS71125.1

Ensembl

ENSMUSG00000043909 (Evidence)
NCBI Gene

27223

			Length	Strain/Species	Flank
genomic	ENSMUSG00000043909	Ensembl Gene Model \| MGI Sequence Detail	78127	C57BL/6J	± kb
transcript	ENSMUST00000110648	Ensembl \| MGI Sequence Detail	9621	Not Applicable
polypeptide	ENSMUSP00000106278	Ensembl \| MGI Sequence Detail	1969	Not Applicable

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UniProt

13 Sequences
Protein Ontology

PR:000016558 TP53-binding protein 1

(term hierarchy)
PDB

1SSF
InterPro Domains

IPR001357 BRCT domain

IPR036420 BRCT domain superfamily

IPR014722 Large ribosomal subunit protein uL2, domain 2

IPR047252 TP53-binding protein 1-like

IPR047249 TP53-binding protein 1-like, first BRCT domain

IPR047250 TP53-binding protein 1-like, second BRCT domain

IPR015125 Tumour suppressor p53-binding protein-1 Tudor domain
GlyGen

P70399 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 26

cDNA 25

Other 1

Microarray probesets 8

Summaries

All 193

Developmental Gene Expression 39

Gene Ontology 24

Phenotypes 89
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:351707 Wen C, et al., MCM8 interacts with DDX5 to promote R-loop resolution. EMBO J. 2024 Jul;43(14):3044-3071

TSS for Trp53bp1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr25919	Chr2:121101884-121101891 (-)	0 bp
Tssr25918	Chr2:121101836-121101878 (-)	31 bp
Tssr25917	Chr2:121101796-121101803 (-)	88 bp
Tssr25916	Chr2:121072312-121072316 (-)	29,574 bp
Tssr25915	Chr2:121066537-121066583 (-)	35,328 bp
Tssr25914	Chr2:121066283-121066327 (-)	35,583 bp
Tssr25913	Chr2:121042448-121042458 (-)	59,435 bp

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 12/17/2024 MGI 6.24