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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
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:30741095-30843549 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 19.09 cM, cytoband B
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    231 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1923998
 protein coding gene Chr14:30741095-30843549 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021117
 protein coding gene Chr14:24185729-24292321 (+)
A/J MGP_AJ_G0021065
 protein coding gene Chr14:23273292-23375536 (+)
AKR/J MGP_AKRJ_G0021042
 protein coding gene Chr14:24396536-24499458 (+)
BALB/cJ MGP_BALBcJ_G0021069
 protein coding gene Chr14:23380468-23496557 (+)
C3H/HeJ MGP_C3HHeJ_G0020852
 protein coding gene Chr14:24254955-24363307 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021501
 protein coding gene Chr14:25146289-25258601 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019064
 protein coding gene Chr14:23332406-23437500 (+)
CAST/EiJ MGP_CASTEiJ_G0020377
 protein coding gene Chr14:24024672-24131361 (+)
CBA/J MGP_CBAJ_G0020819
 protein coding gene Chr14:26116434-26234530 (+)
DBA/2J MGP_DBA2J_G0020941
 protein coding gene Chr14:23298898-23405081 (+)
FVB/NJ MGP_FVBNJ_G0020925
 protein coding gene Chr14:23258714-23367233 (+)
LP/J MGP_LPJ_G0021010
 protein coding gene Chr14:24508719-24617536 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020951
 protein coding gene Chr14:25384160-25497298 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021534
 protein coding gene Chr14:24152897-24260188 (+)
PWK/PhJ MGP_PWKPhJ_G0020125
 protein coding gene Chr14:22753267-22859457 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019949
 protein coding gene Chr14:23742756-23853377 (+)
WSB/EiJ MGP_WSBEiJ_G0020432
 protein coding gene Chr14:24212802-24318777 (+)



Homology
more
  • Human Ortholog
    PBRM1, polybromo 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PBRM1, polybromo 1
  • Synonyms
    BAF180, PB1, RCC, SMARCH1
  • Links
    NCBI Gene ID: 55193
    neXtProt AC: NX_Q86U86
    UniProt: Q86U86

  • Chr Location
    3p21.1; chr3:52545352-52685933 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with human PBRM1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 3 alleles in 3 genetic backgrounds
    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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
    24
  • GO References
    12
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
    732
  • Tissues
    51
  • cDNA Data
    225
  • Literature Summary
    20
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 66923 NCBI Gene Model | MGI Sequence Detail 102455 C57BL/6J ±  kb
    transcript NM_001359854 RefSeq | MGI Sequence Detail 8155 C57BL/6  
    polypeptide Q8BSQ9 UniProt | EBI | MGI Sequence Detail 1634 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 229
      cDNA 225
      Primer pair 4

      Microarray probesets 10
    Other
    Accession IDs
    less
    MGI:1914173, MGI:2145667
    References
    more
    • Summaries
      All 72
      Developmental Gene Expression 20
      Gene Ontology 12
      Phenotypes 19
    • 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:303562 Park YK, et al., Interplay of BAF and MLL4 promotes cell type-specific enhancer activation. Nat Commun. 2021 Mar 12;12(1):1630
    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
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    Send questions and comments to User Support.     		last database update
    01/12/2022
    MGI 6.17     		The Jackson Laboratory