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 residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''ARID1B''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
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 packa ...
chromatin remodeling complex.
Clinical significance
Germline mutation
A germline mutation, or germinal mutation, is any detectable variation within germ cells (cells that, when fully developed, become sperm and Egg cell, ova). Mutations in these cells are the only mutations that can be passed on to offspring, when e ...
s in ARID1B are associated with
Coffin–Siris syndrome
Coffin–Siris syndrome (CSS), first described in 1970 by Dr Grange S. Coffin and Dr E. 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 numbe ...
.
Somatic mutation
A somatic mutation is a change in the DNA sequence of a somatic cell of a multicellular organism with dedicated reproductive cells; that is, any mutation that occurs in a cell other than a gamete, germ cell, or gametocyte. Unlike germline muta ...
s in ARID1B are associated with several cancer subtypes, suggesting that it is a
tumor suppressor gene
A tumor suppressor gene (TSG), or anti-oncogene, is a gene that regulates a cell (biology), 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 ...
.
Interactions
ARID1B has been shown to
interact 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 ...
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 ...
.
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References
Further reading
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External links
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{{NLM content
Transcription factors