E3 ubiquitin-protein ligase SIAH1 is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different molecule ...
that in humans is encoded by the ''SIAH1''
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 ...
.
Function
This gene encodes for a polypeptide structure that is a member of the seven in absentia homolog (SIAH) family. The protein is an
E3 ligase
A ubiquitin ligase (also called an E3 ubiquitin ligase) is a protein that recruits an E2 ubiquitin-conjugating enzyme that has been loaded with ubiquitin, recognizes a protein substrate, and assists or directly catalyzes the transfer of ubiqui ...
and is involved in
ubiquitination
Ubiquitin is a small (8.6 kDa) regulatory protein found in most tissues of eukaryotic organisms, i.e., it is found ''ubiquitously''. It was discovered in 1975 by Gideon Goldstein and further characterized throughout the late 1970s and 1980s. F ...
and
proteasome
Proteasomes are protein complexes which degrade unneeded or damaged proteins by proteolysis, a chemical reaction that breaks peptide bonds. Enzymes that help such reactions are called proteases.
Proteasomes are part of a major mechanism by whi ...
-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in the development of certain forms of
Parkinson's disease
Parkinson's disease (PD), or simply Parkinson's, is a long-term degenerative disorder of the central nervous system that mainly affects the motor system. The symptoms usually emerge slowly, and as the disease worsens, non-motor symptoms becom ...
, the regulation of the cellular response to
hypoxia and induction of
apoptosis.
Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized.
Interactions
SIAH1 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 organizat ...
with:
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APC,
*
BAG1
BAG family molecular chaperone regulator 1 is a protein that in humans is encoded by the ''BAG1'' gene.
Function
The oncogene BCL2 is a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The prote ...
,
*
CACYBP,
*
KHDRBS3
KH domain-containing, RNA-binding, signal transduction-associated protein 3 is a protein that in humans is encoded by the ''KHDRBS3'' gene.
Interactions
KHDRBS3 has been shown to interact with SIAH1.
KHDRBS3 interacts with splicing protein ...
,
*
KIF22,
*
NUMB,
*
PEG10,
*
PEG3
*
POU2AF1
POU domain class 2-associating factor 1 is a protein that in humans is encoded by the ''POU2AF1'' gene. The protein is also termed Oct coactivator from B cells (i.e. OCAB), Oct binding factor 1 (OBF1 or OBF-1), and, as commonly found in the liter ...
,
*
RBBP8
Retinoblastoma-binding protein 8 is a protein that in humans is encoded by the ''RBBP8'' gene.
Function
The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to ret ...
,
and
*
TRIB3.
References
Further reading
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{{PDB Gallery, geneid=6477