AT-rich interactive domain-containing protein 1B 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, respo ...
that in humans is encoded by the ''ARID1B''
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 ba ...
.
ARID1B is a component of the human
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 ...
chromatin remodeling complex.
Clinical significance
Germline mutations in ARID1B are associated with
Coffin–Siris syndrome
Coffin–Siris Syndrome (CSS), first described in 1970 by Dr Coffin and Dr Siris, is a rare genetic disorder that causes developmental delays and absent fifth finger and toe nails.
There had been 31 reported cases by 1991. The number of occurrence ...
.
Somatic mutations in ARID1B are associated with several cancer subtypes, suggesting that it is a tumor suppressor gene.
Interactions
ARID1B has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
with
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 ...
and
SMARCA2
Probable global transcription activator SNF2L2 is a protein that in humans is encoded by the ''SMARCA2'' gene.
Function
The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein o ...
.
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References
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External links
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{{NLM content
Transcription factors