PBRM1

Source: Wikipedia, the free encyclopedia.
PBRM1
Available structures
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 3: 52.55 – 52.69 MbChr 14: 30.74 – 30.84 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protein polybromo-1 (PB1) also known as BRG1-associated factor 180 (BAF180) is a protein that in humans is encoded by the PBRM1 gene.[5][6][7]

Structure and function

Human PBRM1 is one of three unique components of the SWI/SNF-B (PBAF) chromatin-remodeling complex, which contains at least SMARCA4/BRG1, SMARCB1/SNF5/INI1/BAF47, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, and actin.[8][9]

Chicken PB1 possesses 5 bromodomains, 2 bromo-adjacent homology (BAH) domains, and 1 truncated high-mobility group (HMG) motif. cPB1 is also homologous to yeast Rsc1, Rsc2, and Rsc4, essential proteins that are required for cell cycle progression through mitosis.[5]

Clinical significance

PBRM1 is thought to be a

clear cell renal cell carcinoma (ccRCC).[11]

Role renal carcinoma

Loss of function mutations in PBRM1 often co-occur with loss of function mutations in the

clear cell renal cell carcinoma (ccRCC).[12] The inactivation of PBRM1 in combination with biallelic loss of VHL has been shown to potentiate HIF1α signaling and activate the pro-tumorigenic NF-κB pathway.[13][14] Genetic loss of PBRM1 is thought to underlie the early initiation of ccRCC due to the sufficiency of conditional deletion of Pbrm1 and Vhl for renal carcinomagenesis in mice.[15] While several studies have identified a favorable outcomes among advanced ccRCC cases with PBRM1 mutations when treated with immune checkpoint inhibitors, there is still debate about the utility of PBRM1 status as a biomarker for response to ICI therapy.[16][17]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163939Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042323Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^
    PMID 11078522
    .
  6. .
  7. ^ "Entrez Gene: PB1 polybromo 1".
  8. PMID 30343899
    .
  9. ^ "Q86U86 : Protein polybromo-1 (Human)". Universal Protein Resource. UniProt Consortium.
  10. PMID 23355908
    .
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Further reading


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