SAP130
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Histone deacetylase complex subunit SAP130 is an
enzyme Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. A ...
that in humans is encoded by the ''SAP130''
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

SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003). upplied by OMIMref name="entrez"/>


Interactions

SAP130 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: *
CSN1S1 Alpha-S1-casein is a protein that in humans is encoded by the ''CSN1S1'' gene. Interactions CSN1S1 has been shown to interact with SAP130 Histone deacetylase complex subunit SAP130 is an enzyme that in humans is encoded by the ''SAP130'' gene. ...
, *
CUL2 Cullin-2 is a protein that in humans is encoded by the ''CUL2'' gene. Interactions CUL2 has been shown to interact with: * CAND1, * DCUN1D1, * RBX1, * SAP130, * TCEB2 and * Von Hippel-Lindau tumor suppressor The term ''von'' () ...
, *
Myc ''Myc'' is a family of regulator genes and proto-oncogenes that code for transcription factors. The ''Myc'' family consists of three related human genes: ''c-myc'' (MYC), ''l-myc'' ( MYCL), and ''n-myc'' (MYCN). ''c-myc'' (also sometimes refe ...
, * SIN3A, and *
Von Hippel–Lindau tumor suppressor ) hockey league, Supreme Hockey League The Von Hippel–Lindau tumor suppressor also known as pVHL is a protein that, in humans, is encoded by the ''VHL'' gene. Mutations of the VHL gene are associated with Von Hippel–Lindau disease. Function ...
and


Model organisms

Model organism A model organism (often shortened to model) is a non-human species that is extensively studied to understand particular biological phenomena, with the expectation that discoveries made in the model organism will provide insight into the workin ...
s have been used in the study of SAP130 function. A conditional
knockout mouse A knockout mouse, or knock-out mouse, is a genetically modified mouse (''Mus musculus'') in which researchers have inactivated, or "knocked out", an existing gene by replacing it or disrupting it with an artificial piece of DNA. They are importan ...
line called ''Sap130tm1a(KOMP)Mbp'' was generated at the
Wellcome Trust Sanger Institute The Wellcome Sanger Institute, previously known as The Sanger Centre and Wellcome Trust Sanger Institute, is a non-profit British genomics and genetics research institute, primarily funded by the Wellcome Trust. It is located on the Wellcome G ...
. Male and female animals underwent a standardized
phenotypic screen In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological proper ...
to determine the effects of deletion. Additional screens performed: - In-depth immunological phenotyping


References


Further reading

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