Ubiquitin carboxy-terminal hydrolase L1
Encyclopedia
Ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) is a deubiqutinating enzyme.
(I93M) in the gene
encoding this protein is implicated as the cause of Parkinson's disease
in one kindred
.
Furthermore, a polymorphism
(S18Y) in this gene has been found to be associated with a reduced risk for Parkinson's disease.
The gene is also associated with the Alzheimer's disease
, and required for normal synaptic
and cognitive function.
have one of the most complicated knot
structure yet discovered for a protein, with five knot crossings. It is speculated that a knot structure may increase a protein's resistance to degradation in the proteasome
.
with COP9 constitutive photomorphogenic homolog subunit 5
.
Pathology
A point mutationPoint mutation
A point mutation, or single base substitution, is a type of mutation that causes the replacement of a single base nucleotide with another nucleotide of the genetic material, DNA or RNA. Often the term point mutation also includes insertions or deletions of a single base pair...
(I93M) in the gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
encoding this protein is implicated as the cause of Parkinson's disease
Parkinson's disease
Parkinson's disease is a degenerative disorder of the central nervous system...
in one kindred
Kindred
In the Heathen movements, a kindred is a local worship group and organisational unit. Other terms used are hearth, theod , blotgroup, sippe, and other less popular ones such as garth, stead, and others....
.
Furthermore, a polymorphism
Polymorphism (biology)
Polymorphism in biology occurs when two or more clearly different phenotypes exist in the same population of a species — in other words, the occurrence of more than one form or morph...
(S18Y) in this gene has been found to be associated with a reduced risk for Parkinson's disease.
The gene is also associated with the Alzheimer's disease
Alzheimer's disease
Alzheimer's disease also known in medical literature as Alzheimer disease is the most common form of dementia. There is no cure for the disease, which worsens as it progresses, and eventually leads to death...
, and required for normal synaptic
Synapse
In the nervous system, a synapse is a structure that permits a neuron to pass an electrical or chemical signal to another cell...
and cognitive function.
Knot structure
Human UCH-L1 and the closely related protein UCHL3UCHL3
Ubiquitin carboxyl-terminal hydrolase isozyme L3 is an enzyme that in humans is encoded by the UCHL3 gene.-Interactions:UCHL3 has been shown to interact with NEDD8 and the tauopathy and synucleinopathy associated mutated ubiquitin molecule UBB+1....
have one of the most complicated knot
Knot theory
In topology, knot theory is the study of mathematical knots. While inspired by knots which appear in daily life in shoelaces and rope, a mathematician's knot differs in that the ends are joined together so that it cannot be undone. In precise mathematical language, a knot is an embedding of a...
structure yet discovered for a protein, with five knot crossings. It is speculated that a knot structure may increase a protein's resistance to degradation in the proteasome
Proteasome
Proteasomes are very large protein complexes inside all eukaryotes and archaea, and in some bacteria. In eukaryotes, they are located in the nucleus and the cytoplasm. The main function of the proteasome is to degrade unneeded or damaged proteins by proteolysis, a chemical reaction that breaks...
.
Interactions
Ubiquitin carboxy-terminal hydrolase L1 has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with COP9 constitutive photomorphogenic homolog subunit 5
COP9 constitutive photomorphogenic homolog subunit 5
COP9 constitutive photomorphogenic homolog subunit 5 , also known as COPS5 or Csn5, is a gene conserved from humans to Saccharomyces cerevisiae.-Interactions:...
.