Small ubiquitin-related modifier 1 is a
protein that in humans is encoded by the ''SUMO1''
gene.
Function
This gene encodes a protein that is a member of the
SUMO
is a form of competitive full-contact wrestling where a ''rikishi'' (wrestler) attempts to force his opponent out of a circular ring (''dohyō'') or into touching the ground with any body part other than the soles of his feet (usually by thr ...
(small ubiquitin-like modifier) protein family. It is a
ubiquitin-like protein and functions in a manner similar to
ubiquitin in that it is bound to target proteins as part of a
post-translational modification system. However, unlike ubiquitin, which is primarily associated with targeting proteins for
proteasomal degradation, SUMO1 is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last four amino acids of the
carboxy-terminus have been cleaved off. Several
pseudogene
Pseudogenes are nonfunctional segments of DNA that resemble functional genes. Most arise as superfluous copies of functional genes, either directly by DNA duplication or indirectly by Reverse transcriptase, reverse transcription of an mRNA trans ...
s have been reported for this gene. Alternate transcriptional
splice variants encoding different
isoforms have been characterized.
Most
cleft genes have a
sumoylation
In molecular biology, SUMO (Small Ubiquitin-like Modifier) proteins are a family of small proteins that are covalently attached to and detached from other proteins in cells to modify their function. This process is called SUMOylation (sometimes w ...
component. Analysis of chromosomal anomalies in patients has led to the identification and confirmation of SUMO1 as a
cleft lip and palate locus.
Interactions
Small ubiquitin-related modifier 1 has been shown to
interact with:
*
C22orf25,
*
DAXX,
*
DNMT3B,
*
P53,
[
* PIAS1,][
* TOP2A,][
* TOP2B,]
Role in the heart
Heart failure
Heart failure (HF), also known as congestive heart failure (CHF), is a syndrome, a group of signs and symptoms caused by an impairment of the heart's blood pumping function. Symptoms typically include shortness of breath, excessive fatigue, a ...
is a process by which the heart’s pumping ability is significantly weakened, so that the body is unable to get adequate circulation. A weakened heart results in symptoms of fatigue, decreased exercise tolerance and shortness of breath. Patients with heart failure have a significantly increased risk of death compared to people with normal heart function. Heart failure is a major public health concern, as its incidence is on the rise worldwide, and is a leading cause of death in developed nations mitochondria
A mitochondrion (; ) is an organelle found in the Cell (biology), cells of most Eukaryotes, such as animals, plants and Fungus, fungi. Mitochondria have a double lipid bilayer, membrane structure and use aerobic respiration to generate adenosi ...
of heart cells. SUMO 1 is associated with another essential cardiac protein called sarco/endoplasmic reticulum Ca2+ ATPase, or SERCA2A. SERCA is a transmembrane protein located in the sarcoplasmic reticulum of cardiac cells. Its main function is to regulate the discharge and uptake of intracellular calcium between the cytosol and the lumen of the sarcoplasmic reticulum. Calcium is an essential factor for the development of cardiac myocyte contraction and relaxation. Thus, the management of intracellular calcium homeostasis by SERCA2A is critical for overall cardiac performance.
As a drug target
SUMO 1 may be an important therapeutic target to help improve cardiac performance in patients with heart failure. In a mouse model, the introduction of SUMO 1 through gene therapy was associated with improved activity of SERCA2A, which resulted in improved cardiac function through an augmentation of cardiac contractility.
See also
* SENP6
References
Further reading
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External links
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{{PDB Gallery, geneid=7341