• Gene id: 55193

Gene Summary

• Gene Symbol: PBRM1   Gene   UCSC   Ensembl
• Aliases: BAF180, PB1
• Gene name: polybromo 1
• Alternate names: protein polybromo-1, BRG1-associated factor 180, polybromo-1D,
• Gene location: 3p21.1 (52685912: 52545366)     Exons: 37     NC_000003.12
• Gene summary(Entrez): This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations a
• OMIM: 606083

Protein Summary

• Protein general information: Q86U86  
  • Name: Protein polybromo 1 (hPB1) (BRG1 associated factor 180) (BAF180) (Polybromo 1D)
  • Length: 1689  
  • Mass: 192948
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MGSKRRRATSPSSSVSGDFDDGHHSVSTPGPSRKRRRLSNLPTVDPIAVCHELYNTIRDYKDEQGRLLCELFIRA
  PKRRNQPDYYEVVSQPIDLMKIQQKLKMEEYDDVNLLTADFQLLFNNAKSYYKPDSPEYKAACKLWDLYLRTRNE
  FVQKGEADDEDDDEDGQDNQGTVTEGSSPAYLKEILEQLLEAIVVATNPSGRLISELFQKLPSKVQYPDYYAIIK
  EPIDLKTIAQRIQNGSYKSIHAMAKDIDLLAKNAKTYNEPGSQVFKDANSIKKIFYMKKAEIEHHEMAKSSLRMR
  TPSNLAAARLTGPSHSKGSLGEERNPTSKYYRNKRAVQGGRLSAITMALQYGSESEEDAALAAARYEEGESEAES
  ITSFMDVSNPFYQLYDTVRSCRNNQGQLIAEPFYHLPSKKKYPDYYQQIKMPISLQQIRTKLKNQEYETLDHLEC
  DLNLMFENAKRYNVPNSAIYKRVLKLQQVMQAKKKELARRDDIEDGDSMISSATSDTGSAKRKSKKNIRKQRMKI
  LFNVVLEAREPGSGRRLCDLFMVKPSKKDYPDYYKIILEPMDLKIIEHNIRNDKYAGEEGMIEDMKLMFRNARHY
  NEEGSQVYNDAHILEKLLKEKRKELGPLPDDDDMASPKLKLSRKSGISPKKSKYMTPMQQKLNEVYEAVKNYTDK
  RGRRLSAIFLRLPSRSELPDYYLTIKKPMDMEKIRSHMMANKYQDIDSMVEDFVMMFNNACTYNEPESLIYKDAL
  VLHKVLLETRRDLEGDEDSHVPNVTLLIQELIHNLFVSVMSHQDDEGRCYSDSLAEIPAVDPNFPNKPPLTFDII
  RKNVENNRYRRLDLFQEHMFEVLERARRMNRTDSEIYEDAVELQQFFIKIRDELCKNGEILLSPALSYTTKHLHN
  DVEKERKEKLPKEIEEDKLKREEEKREAEKSEDSSGAAGLSGLHRTYSQDCSFKNSMYHVGDYVYVEPAEANLQP
  HIVCIERLWEDSAGEKWLYGCWFYRPNETFHLATRKFLEKEVFKSDYYNKVPVSKILGKCVVMFVKEYFKLCPEN
  FRDEDVFVCESRYSAKTKSFKKIKLWTMPISSVRFVPRDVPLPVVRVASVFANADKGDDEKNTDNSEDSRAEDNF
  NLEKEKEDVPVEMSNGEPGCHYFEQLHYNDMWLKVGDCVFIKSHGLVRPRVGRIEKVWVRDGAAYFYGPIFIHPE
  ETEHEPTKMFYKKEVFLSNLEETCPMTCILGKCAVLSFKDFLSCRPTEIPENDILLCESRYNESDKQMKKFKGLK
  RFSLSAKVVDDEIYYFRKPIVPQKEPSPLLEKKIQLLEAKFAELEGGDDDIEEMGEEDSEVIEPPSLPQLQTPLA
  SELDLMPYTPPQSTPKSAKGSAKKEGSKRKINMSGYILFSSEMRAVIKAQHPDYSFGELSRLVGTEWRNLETAKK
  AEYEERAAKVAEQQERERAAQQQQPSASPRAGTPVGALMGVVPPPTPMGMLNQQLTPVAGMMGGYPPGLPPLQGP
  VDGLVSMGSMQPLHPGGPPPHHLPPGVPGLPGIPPPGVMNQGVAPMVGTPAPGGSPYGQQVGVLGPPGQQAPPPY
  PGPHPAGPPVIQQPTTPMFVAPPPKTQRLLHSEAYLKYIEGLSAESNSISKWDQTLAARRRDVHLSKEQESRLPS
  HWLKSKGAHTTMADALWRLRDLMLRDTLNIRQAYNLENV

• Structural information:
  • Protein Domains: (64..13-)
    (/note="Bromo-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00035-)
    (200..27-)
    (/note="Bromo-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00035-)
    (400..47-)
    (/note="Bromo-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00035"-)
  • Interpro: IPR001025  IPR001487  IPR036427  IPR018359  IPR009071   IPR036910  IPR037968  IPR037382  
  • Prosite: PS51038 PS00633 PS50014 PS50118
  • CDD: cd05515
  • PDB: 2KTB 3G0J 3HMF 3IU5 3IU6 3K2J 3LJW 3MB4 3TLP 4Q0N 4Q0O 4Y03 5E7D 5FH6 5FH7 5FH8 5HRV 5HRW 5HRX 5II1 5II2 5IID
  • PDBsum: 2KTB 3G0J 3HMF 3IU5 3IU6 3K2J 3LJW 3MB4 3TLP 4Q0N 4Q0O 4Y03 5E7D 5FH6 5FH7 5FH8 5HRV 5HRW 5HRX 5II1 5II2 5IID
  • DIP: 33045
  • STRING: ENSP00000378307
• Other Databases: GeneCards:  PBRM1  Malacards:  PBRM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003682	chromatin binding	IBA	molecular function
GO:0006337	nucleosome disassembly	IBA	biological process
GO:0016586	RSC-type complex	IBA	cellular component
GO:0043044	ATP-dependent chromatin remodeling	IBA	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	IBA	biological process
GO:0008285	negative regulation of cell population proliferation	IMP	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0006338	chromatin remodeling	IEA	biological process
GO:0016586	RSC-type complex	IEA	cellular component
GO:0006325	chromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006338	chromatin remodeling	TAS	biological process
GO:0000228	nuclear chromosome	NAS	cellular component
GO:0000278	mitotic cell cycle	TAS	biological process
GO:0003682	chromatin binding	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05225	Hepatocellular carcinoma

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray