Pbrm1 MGI Mouse Gene Detail - MGI:1923998

Pbrm1 Gene Detail

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

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

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

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Phenotype Summary

13 phenotypes from 2 alleles in 2 genetic backgrounds
14 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	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

43
Chemically induced (ENU)

1
Gene trapped

38
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

60 strains or lines available

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

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All GO Annotations

20
GO References

8

External Resources

FuncBase

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.

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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

32
Tissues

30
cDNA Data

224
Literature Summary

12

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN pbrm1

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

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All Sequences

208
RefSeq

100
UniProt

15
CCDS

CCDS36851.1
UniGene

27913

			Length	Strain/Species	Flank
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

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SNPs within 2kb

235 from dbSNP Build 142

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UniProt

15 Sequences
Protein Ontology

PR:000012325 protein polybromo-1

(term hierarchy)
PDB

2YQD
InterPro Domains

IPR001025 Bromo adjacent homology (BAH) domain

IPR001487 Bromodomain

IPR018359 Bromodomain, conserved site

IPR009071 High mobility group box domain

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All nucleic 225

cDNA 224

Primer pair 1

Microarray probesets 10

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MGI:1914173, MGI:2145667

Summaries

All 55

Developmental Gene Expression 12

Gene Ontology 8

Phenotypes 14
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:212358 Singh AP, et al., Analysis of the SWI/SNF chromatin-remodeling complex during early heart development and BAF250a repression cardiac gene transcription during P19 cell differentiation. Nucleic Acids Res. 2014 Mar;42(5):2958-75

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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