CSMD1 CUB and Sushi multiple domains 1 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 ''CSMD1''
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
CSMD1 contains 14
N-terminal CUB domain
CUB domain is an evolutionarily conserved protein domain.
The CUB domain (for complement C1r/C1s, Uegf, Bmp1) is a structural motif of approximately 110 residues found almost exclusively in extracellular and plasma membrane-associated prote ...
s that are separated from each other by a
Sushi domains followed by an additional 15 tandem Sushi domain segment.
Function
Based on analogy to other proteins that contain Sushi domains, it is believed that the gene product of CSMD1 functions as a
Complement control protein Complement control protein are proteins that interact with components of the complement system.
The complement system is tightly regulated by a network of proteins known as "regulators of complement activation (RCA)" that help distinguish target ...
.
Clinical significance
It is a potential tumour
suppressor
A silencer, also known as a sound suppressor, suppressor, or sound moderator, is a muzzle device that reduces the acoustic intensity of the muzzle report (sound of a gunshot) and muzzle rise when a gun (firearm or air gun) is discharged, b ...
, the deletion of which may result in head and neck
carcinomas
Carcinoma is a malignancy that develops from epithelial cells. Specifically, a carcinoma is a cancer that begins in a tissue that lines the inner or outer surfaces of the body, and that arises from cells originating in the endodermal, mesoder ...
behaving more aggressively. CSMD1 protein expression was found to be reduced in patients with invasive breast cancer.
Functional studies showed that CSMD1 reduction causes cells to transform to a cancer form by increasing their ability to divide, migrate and invade. In a three dimensional model of breast ducts, reduced CSMD1 expression failed breast duct formation.
Certain CSMD1 genetic variants have been found to show an association with risk of developing
schizophrenia
Schizophrenia is a mental disorder characterized by continuous or relapsing episodes of psychosis. Major symptoms include hallucinations (typically hearing voices), delusions, and disorganized thinking. Other symptoms include social wit ...
, consistent with emerging evidence that some forms of schizophrenia may result from dysregulated
complement
A complement is something that completes something else.
Complement may refer specifically to:
The arts
* Complement (music), an interval that, when added to another, spans an octave
** Aggregate complementation, the separation of pitch-clas ...
activation in the central nervous system resulting in excessive
synaptic pruning
Synaptic pruning, a phase in the development of the nervous system, is the process of synapse elimination that occurs between early childhood and the onset of puberty in many mammals, including humans. Pruning starts near the time of birth and con ...
.
References
External links
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Further reading
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