About   Help   FAQ
Brip1 Gene Detail
Summary
  • Symbol
    Brip1
  • Name
    BRCA1 interacting protein C-terminal helicase 1
  • Synonyms
    3110009N10Rik, 8030460J03Rik, BACH1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442836
    NCBI Gene: 237911
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:85948964-86092019 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 51.61 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    3237 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2442836
 protein coding gene Chr11:85948957-86092041 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018886
 protein coding gene Chr11:87601200-87745370 (-)
A/J MGP_AJ_G0018853
 protein coding gene Chr11:84236268-84367541 (-)
AKR/J MGP_AKRJ_G0018823
 protein coding gene Chr11:86750983-86895712 (-)
BALB/cJ MGP_BALBcJ_G0018826
 protein coding gene Chr11:84617604-84757395 (-)
C3H/HeJ MGP_C3HHeJ_G0018640
 protein coding gene Chr11:86780135-86924688 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019278
 protein coding gene Chr11:90256549-90403644 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016911
 protein coding gene Chr11:81269610-81403687 (-)
CAST/EiJ MGP_CASTEiJ_G0018195
 protein coding gene Chr11:87434018-87584505 (-)
CBA/J MGP_CBAJ_G0018611
 protein coding gene Chr11:94051249-94197574 (-)
DBA/2J MGP_DBA2J_G0018719
 protein coding gene Chr11:83808517-83940662 (-)
FVB/NJ MGP_FVBNJ_G0018708
 protein coding gene Chr11:83305324-83447831 (-)
LP/J MGP_LPJ_G0018789
 protein coding gene Chr11:88096466-88239561 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018735
 protein coding gene Chr11:94170308-94320380 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019318
 protein coding gene Chr11:86998204-87142092 (-)
PWK/PhJ MGP_PWKPhJ_G0017964
 protein coding gene Chr11:84594196-84735822 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017756
 protein coding gene Chr11:86544935-86688770 (-)
WSB/EiJ MGP_WSBEiJ_G0018246
 protein coding gene Chr11:86853935-87018021 (-)



Homology
more
  • Human Ortholog
    BRIP1, BRCA1 interacting DNA helicase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BRIP1, BRCA1 interacting DNA helicase 1
  • Synonyms
    BACH1, FANCJ, OF
  • Links
    NCBI Gene ID: 83990
    neXtProt AC: NX_Q9BX63
    UniProt: Q9BX63

  • Chr Location
    17q23.2; chr17:61679139-61863559 (-)  GRCh38
Human Diseases
more
  • Diseases
    4 with human BRIP1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    47 phenotypes from 2 alleles in 2 genetic backgrounds
    3 phenotypes from multigenic genotypes
    19 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.
Mice homozygous for a gene trapped allele exhibit gonadal atrophy, subfertility, germ cell attrition, epithelial tumor predisposition, increased cellular sensitivity to interstrand crosslink-inducing agents, hypersensitivity to replication inhibitors, and predisposition to lymphoma.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    60
  • GO References
    14
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.
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
    795
  • Tissues
    9
  • cDNA Data
    30
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000034329 Ensembl Gene Model | MGI Sequence Detail 143056 C57BL/6J ±  kb
    transcript ENSMUST00000044423 Ensembl | MGI Sequence Detail 6931 Not Applicable  
    polypeptide ENSMUSP00000043108 Ensembl | MGI Sequence Detail 1174 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 30
      cDNA 30

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:1920358
    References
    more
    • Summaries
      All 60
      Developmental Gene Expression 7
      Gene Ontology 14
      Phenotypes 19
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:346200 Horan TS, et al., The DNA helicase FANCJ (BRIP1) functions in double strand break repair processing, but not crossover formation during prophase I of meiosis in male mice. PLoS Genet. 2024 Feb;20(2):e1011175
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory