Calsenilin 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 ''KCNIP3''
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 ...
.
Function
This gene encodes a member of the
family of voltage-gated potassium (Kv) channel-interacting proteins, which belong to the
neuronal calcium sensor Neuronal Calcium Sensor is a large family of proteins which work as calcium dependent molecular switches and includes members like Frequenin (NCS1), recoverin, GCAP, neurocalcin, visinin etc. All the members carry 4 EF hand motifs (out of which only ...
family of proteins.
Members of this family are small calcium binding proteins containing
EF-hand
The EF hand is a helix–loop–helix structural domain or ''motif'' found in a large family of calcium-binding proteins.
The EF-hand motif contains a helix–loop–helix topology, much like the spread thumb and forefinger of the human hand, in ...
-like domains. They are integral subunit components of native Kv4 channel complexes that may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. The encoded protein also functions as a calcium-regulated
transcriptional repressor, and interacts with
presenilin
Presenilins are a family of related multi-pass transmembrane proteins which constitute the catalytic subunits of the gamma-secretase intramembrane protease protein complex. They were first identified in screens for mutations causing early onset ...
s. In addition, the protein has been shown to transcriptionally repress A20 (
TNFAIP3
Tumor necrosis factor, alpha-induced protein 3 or A20 is a protein that in humans is encoded by the ''TNFAIP3'' gene.
This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded ...
) expression and thus modulate the anti-inflammatory signaling.
Alternatively spliced
Alternative splicing, or alternative RNA splicing, or differential splicing, is an alternative splicing process during gene expression that allows a single gene to code for multiple proteins. In this process, particular exons of a gene may be ...
transcript variants encoding different isoforms have been described.
Interactions
Calsenilin 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
PSEN1 and
PSEN2
Presenilin-2 is a protein that (in humans) is encoded by the ''PSEN2'' gene.
Function
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins ( PSEN1; PSEN2) or the amyloid precursor ...
.
See also
* Voltage-gated potassium channel
References
Further reading
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External links
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NCS proteins
EF-hand-containing proteins
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