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Pbrm1 Gene Detail
Summary
  • Symbol
    Pbrm1
  • Name
    polybromo 1
  • Synonyms
    2310032M22Rik, 2610016F04Rik, BAF180, Pb1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923998
    NCBI Gene: 66923
  • Gene Overview
    MyGene.info: PBRM1
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr14:31019138-31121592 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      102455 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 19.09 cM, cytoband B
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    PBRM1, polybromo 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PBRM1, polybromo 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BAF180, PB1
  • Links
    NCBI Gene ID: 55193
    neXtProt AC: NX_Q86U86
    UniProt: Q86U86

  • Chr Location
    3p21.1; chr3:52545352-52685933 (-)  GRCh38.p7
  • HomoloGene
    Vertebrate Homology Class 10044
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: PBRM1
  • Gene Tree
    Pbrm1
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 2 alleles in 2 genetic backgrounds
    16 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.
Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • GO References
    9
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
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
    38
  • Tissues
    33
  • cDNA Data
    223
  • Literature Summary
    13
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023870 VEGA Gene Model | MGI Sequence Detail 102455 C57BL/6J ±  kb
transcript OTTMUST00000058317 VEGA | MGI Sequence Detail 6212 Not Applicable  
polypeptide OTTMUSP00000028240 VEGA | MGI Sequence Detail 1689 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    235 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 225
    cDNA 223
    Primer pair 2

    Microarray probesets 10
Other
Accession IDs
less
MGI:1914173, MGI:2145667
References
more
  • Summaries
    All 60
    Developmental Gene Expression 13
    Gene Ontology 9
    Phenotypes 16
  • 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:254910 Espana-Agusti J, et al., Loss of PBRM1 rescues VHL dependent replication stress to promote renal carcinogenesis. Nat Commun. 2017 Dec 11;8(1):2026
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
04/17/2018
MGI 6.11 		The Jackson Laboratory