Protein polybromo-1 (PB1) also known as BRG1-associated factor 180 (BAF180) is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''PBRM1''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Structure and function
Component of the
SWI/SNF
In molecular biology, SWI/SNF (SWItch/Sucrose Non-Fermentable), is a subfamily of ATP-dependent chromatin remodeling complexes, which is found in eukaryotes. In other words, it is a group of proteins that associate to remodel the way DNA is pack ...
-B (PBAF) chromatin-remodeling complex, which contains at least
SMARCA4
Transcription activator BRG1 also known as ATP-dependent chromatin remodeler SMARCA4 is a protein that in humans is encoded by the ''SMARCA4'' gene.
Function
The protein encoded by this gene is a member of the SWI/SNF family of proteins and i ...
/BRG1,
SMARCB1
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 is a protein that in humans is encoded by the ''SMARCB1'' gene.
Function
The protein encoded by this gene is part of a complex that relieves repressiv ...
/SNF5/INI1/BAF47,
ACTL6A
Actin-like protein 6A is a protein that in humans is encoded by the ''ACTL6A'' gene.
Function
This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both ...
/BAF53A or
ACTL6B
Actin-like protein 6B is a protein that in humans is encoded by the ''ACTL6B'' gene.
Function
The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to co ...
/BAF53B,
SMARCE1
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 is a protein that in humans is encoded by the ''SMARCE1'' gene.
Function
The protein encoded by this gene is part of the large ATP-dependent chromatin ...
/BAF57,
SMARCD1/BAF60A,
SMARCD2/BAF60B, and
actin
Actin is a family of globular multi-functional proteins that form microfilaments in the cytoskeleton, and the thin filaments in muscle fibrils. It is found in essentially all eukaryotic cells, where it may be present at a concentration of ov ...
.
Chicken PB1 possesses 5
bromodomains, 2 bromo-adjacent homology (BAH) domains, and 1 truncated
high-mobility group
High-Mobility Group or HMG is a group of chromosomal proteins that are involved in the regulation of DNA-dependent processes such as
transcription, replication, recombination, and DNA repair.
Families
The HMG proteins are subdivided into 3 supe ...
(HMG) motif. cPB1 is also homologous to yeast Rsc1, Rsc2, and Rsc4, essential proteins that are required for
cell cycle
The cell cycle, or cell-division cycle, is the series of events that take place in a cell that cause it to divide into two daughter cells. These events include the duplication of its DNA (DNA replication) and some of its organelles, and sub ...
progression through
mitosis.
Clinical significance
PBRM1 is a
tumor suppressor gene
A tumor suppressor gene (TSG), or anti-oncogene, is a gene that regulates a cell during cell division and replication. If the cell grows uncontrollably, it will result in cancer. When a tumor suppressor gene is mutated, it results in a loss or re ...
in many cancer subtypes.
Mutations are especially prevalent in
clear cell renal cell carcinoma
Clear-cell renal-cell carcinoma (CCRCC) is a type of renal-cell carcinoma.
Genetics Cytogenetics
* Alterations of chromosome 3p segments occurs in 70–90% of CCRCCs
* Inactivation of von Hippel–Lindau disease ( VHL) gene by gene mutation a ...
.
References
Further reading
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