Pbrm1 MGI Mouse Gene Detail - MGI:1923998

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

7 TSS

Sequence Map

Chr14:31019138-31121592 bp, + strand
From NCBI annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 14, 19.09 cM, cytoband B
Mapping Data

4 experiments

SNPs within 2kb

235 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1923998	protein coding gene	Chr14:31019138-31121592 (+)
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 (+)

Human Ortholog

PBRM1, polybromo 1

Vertebrate Orthologs

10

Human Ortholog

PBRM1, polybromo 1
Orthology source: HomoloGene, HGNC
Synonyms

BAF180, PB1
Links

HGNC:30064

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

less

Phenotype Summary

18 phenotypes from 3 alleles in 3 genetic backgrounds
18 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	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.

All Mutations and Alleles

44
Chemically induced (ENU)

1
Gene trapped

38
Targeted

5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

33 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta.

less

All GO Annotations

32
GO References

12

External Resources

FuncBase

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.

less

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

45
Tissues

38
cDNA Data

225
Literature Summary

16

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pbrm1

ZFIN pbrm1

less

Pbrm1 interacts with 409 markers (Mir1a-1, Mir1a-2, Mir1b, ...) View All

less

All Sequences

208
RefSeq

108
UniProt

15
CCDS

CCDS36851.1
UniGene

27913

Ensembl

ENSMUSG00000042323 (Evidence)
NCBI Gene

66923

			Length	Strain/Species	Flank
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

less

UniProt

15 Sequences
PDB

2YQD
InterPro Domains

IPR001025 Bromo adjacent homology (BAH) domain

IPR001487 Bromodomain

IPR018359 Bromodomain, conserved site

IPR036427 Bromodomain-like superfamily

IPR009071 High mobility group box domain

IPR036910 High mobility group box domain superfamily

IPR037968 Protein polybromo-1, Bromodomain 5

IPR037382 Remodelling complex subunit Rsc/polybromo

less

All nucleic 227

cDNA 225

Primer pair 2

Microarray probesets 10

less

MGI:1914173, MGI:2145667

Summaries

All 67

Developmental Gene Expression 16

Gene Ontology 12

Phenotypes 18
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:264370 Sima J, et al., Eda-activated RelB recruits an SWI/SNF (BAF) chromatin-remodeling complex and initiates gene transcription in skin appendage formation. Proc Natl Acad Sci U S A. 2018 Aug 7;115(32):8173-8178

TSS for Pbrm1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr124906	Chr14:31019125-31019157 (+)	3 bp
Tssr124907	Chr14:31019159-31019178 (+)	31 bp
Tssr124908	Chr14:31019183-31019214 (+)	61 bp
Tssr124909	Chr14:31019439-31019506 (+)	335 bp
Tssr124910	Chr14:31019700-31019704 (+)	564 bp
Tssr124911	Chr14:31030640-31030645 (+)	11,505 bp
Tssr124914	Chr14:31118784-31118788 (+)	99,648 bp

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 01/15/2019 MGI 6.13