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
  • Gene Overview
    MyGene.info: BRIP1
Location & Maps
more
  • Sequence Map
    Chr11:86058138-86201193 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      143056 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 51.61 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    BRIP1, BRCA1 interacting protein C-terminal helicase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BRIP1, BRCA1 interacting protein C-terminal helicase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BACH1, FANCJ, OF
  • Links
    NCBI Gene ID: 83990
    neXtProt AC: NX_Q9BX63

  • Chr Location
    17q22.2; chr17:61679186-61863937 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 32766
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: BRIP1
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with human BRIP1 associations

Human Disease Mouse Models
       Breast Cancer   OMIM: 114480
Fanconi Anemia, Complementation Group J; FANCJ   OMIM: 609054
Tracheoesophageal Fistula with or without Esophageal Atresia   OMIM: 189960
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    37 phenotypes from 1 allele in 1 genetic background
    3 phenotypes from multigenic genotypes
    13 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.
  • All Mutations and Alleles
    7
  • Chemically induced (other)
    1
  • Gene trapped
    5
  • Targeted
    1
  • Genomic Mutations
    2 involving Brip1
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
less
  • 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000001045 VEGA Gene Model | MGI Sequence Detail 143056 C57BL/6J ±  kb
transcript OTTMUST00000002085 VEGA | MGI Sequence Detail 6931 Not Applicable  
polypeptide OTTMUSP00000001009 VEGA | MGI Sequence Detail 1174 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    311 from dbSNP Build 142
Protein
Information
less
  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000004816 Fanconi anemia group J protein
  • EC
  • InterPro Domains
    IPR006555 ATP-dependent helicase, C-terminal
    IPR010614 DEAD2
    IPR013020 DNA helicase (DNA repair), Rad3 type
    IPR006554 Helicase-like, DEXD box c2 type
    IPR014001 Helicase superfamily 1/2, ATP-binding domain
    IPR014013 Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
Molecular
Reagents
less
  • All nucleic 29
    cDNA 29

    Microarray probesets 2
Other
Accession IDs
less
MGI:1920358
References
more
  • Summaries
    All 31
    Developmental Gene Expression 1
    Gene Ontology 6
    Phenotypes 13
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:227337 Sun X, et al., FancJ (Brip1) loss-of-function allele results in spermatogonial cell depletion during embryogenesis and altered processing of crossover sites during meiotic prophase I in mice. Chromosoma. 2015 Oct 21;

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/13/2016
MGI 6.05
The Jackson Laboratory