1. 1. SKOR2 - SKI FAMILY TRANSCRIPTIONAL
COREPRESSOR 2
• Enables SMAD binding activity and sequence-specific double-
stranded DNA binding activity. Involved in negative regulation
of transforming growth factor beta receptor signaling pathway.
Located in cytoplasm and nucleus.
•
• SKOR2 is transcriptional repressor that is highly expressed in
the central nervous system
• SKI family transcriptional corepressor 2; Exhibits
transcriptional repressor activity (By similarity). Acts as a TGF-
beta antagonist in the nervous system; SKI transcriptional
corepressors
• Exhibits transcriptional repressor activity (By similarity). Acts
as a TGF-beta antagonist in the nervous system.
2. 2. CORO7-PAM16 - CORO7-PAM16
READTHROUGH
• Recombinant protein of human coronin 7 (CORO7)
• This gene encodes a member of the coronin protein family.
However, unlike other coronin proteins, it is not an actin-
binding protein but rather functions as an F-actin regulator
directing anterograde Golgi to endosome transport. The
encoded protein has two tandem WD-40 domain repeats
and localizes to the trans-Golgi network. The protein
undergoes K33-linked polyubiquitination via an E3 ligase
complex. It is thought to play an essential role in
maintenance of Golgi apparatus morphology. Alternative
splicing results in multiple transcripts variants; some of
which form read-through transcripts with a neighboring
gene.
•
3. 3. MUC 4
• Mucin 4 (MUC 4) is a mucin protein that in humans is
encoded by the MUC4 gene.[3] Like other mucins, MUC-
4 is a high-molecular weight glycoprotein.[4]
• The major constituents of mucus, the viscous secretion
that covers epithelial surfaces such as those in the
trachea, colon, and cervix, are highly glycosylated
proteins called mucins. These glycoproteins play
important roles in the protection of the epithelial cells
and have been implicated in epithelial renewal and
differentiation
4. • In normal functioning, MUC-4 is known to play
anti-adhesive roles in the body, such as in
lubricating the reproductive lining.[15] It is also
found in the respiratory tract - particularly in
the trachea and lung - and the digestive tract - in
the esophagus and colon - as well as in the visual
and auditory systems.[6] In these roles, MUC-4
serves to protect and lubricate the epithelium,
which facilitates transport and traps foreign
particles.
• MUC-4 is thought to play a role in cancer
progression by repressing apoptosis and
consequently increasing tumor cell proliferation
5. Role in hiv
• Mucus and Mucins: do they have a role in the
inhibition of the human immunodeficiency
virus?
• Anwar Suleman Mall, Habtom Habte, Yolanda
Mthembu, Julia Peacocke & Corena de Beer
• DOI: https://doi.org/10.1186/s12985-017-
0855-9
6. 4. U2AF1- U2 small nuclear RNA
auxiliary factor 1
• This gene belongs to the splicing factor SR family
of genes. U2 auxiliary factor, comprising a large
and a small subunit, is a non-snRNP protein
required for the binding of U2 snRNP to the pre-
mRNA branch site. This gene encodes the small
subunit which plays a critical role in both
constitutive and enhancer-dependent RNA
splicing by directly mediating interactions
between the large subunit and proteins bound to
the enhancers. Alternatively spliced transcript
variants encoding different isoforms have been
identified.
7. 5. PLEKHA1-pleckstrin homology
domain containing A1
• Highly expressed in skeletal muscle, thymus,
pancreas, placenta and lung. Detected at low
levels in brain, heart, peripheral blood leukocytes,
testis, ovary, spinal cord, thyroid, kidney, liver,
small intestine and colon.
Function
• Binds specifically to phosphatidylinositol 3,4-
diphosphate (PtdIns3,4P2), but not to other
phosphoinositides. May recruit other proteins to
the plasma membrane
8. 6. NALCN channel auxiliary factor
2(NALF2)
• This gene encodes a product belonging to a family of proteins with
unknown function. The presence of two transmembrane domains
suggests that this protein is a multi-pass membrane protein.
[provided by RefSeq, Sep 2011]
• Expression
• Biased expression in thyroid (RPKM 3.9), heart (RPKM 3.6) and 7
other tissues See more
•
• Function
• Function
• Probable component of the NALCN channel complex, a channel that
regulates the resting membrane potential and controls neuronal
excitability.
9. 7. LDL RECEPTOR RELATED PROTEIN 4
(LRP4)
• Low-density lipoprotein receptor-related protein 4 (LRP-
4), also known as multiple epidermal growth factor-like
domains 7 (MEGF7), is a protein that in humans is encoded
by the LRP4 gene.[5][6] LRP-4 is a member of the Lipoprotein
receptor-related protein family and may be a regulator
of Wnt signaling.
• Low-density lipoprotein receptor-related protein 4 (Lrp4) is
a member of a family of structurally related, single-pass
transmembrane proteins that carry out a variety of
functions in development and physiology, including signal
transduction and receptor-mediated endocytosis.
• Plays a key role in the formation and the maintenance of
the neuromuscular junction (NMJ), the synapse between
motor neuron and skeletal muscle.
10. • Modulation of the LDL receptor and LRP levels
by HIV protease inhibitors
• November 2003
• Journal of Lipid Research 44(10):1859-69
• DOI:10.1194/jlr.M200487-JLR200
• Source
• PubMed
11. 8. PROLINE RICH BASIC PROTEIN
1(PROB1)
• Located in nucleoplasmProline-rich basic protein
1 (PROB1) is a protein encoded by the PROB1
Expression[edit]
• PROB1 is expressed in 89 types of tissue in the human
body,[8] with highest expression in the skeletal muscle of
the leg and cardiac muscle of the heart.[9] While mRNA
expression is somewhat ubiquitous and was also elevated
in the spinal cord, cerebrum, and lymphocytes, measurable
protein expression was only recorded in cardiac and
skeletal muscle.
• gene located on human chromosome 5PROB1 expression is
shown to be significantly elevated in several disease states,
including head and neck cancer[24] and prostate
inflammation
12. 9. SERPINA1 gene
serpin family A member 1
• The SERPINA1 gene provides instructions for making a
protein called alpha-1 antitrypsin, which is a type of serine
protease inhibitor (serpin). Serpins help control several
types of chemical reactions by blocking (inhibiting) the
activity of certain enzymes. The first identified role for
alpha-1 antitrypsin was to control the activity of the
digestive enzyme trypsin. Alpha-1 antitrypsin also inhibits
other enzymes, including a powerful enzyme called
neutrophil elastase that is released from white blood cells
to fight infection.
• Alpha-1 antitrypsin is produced in the liver and then
transported throughout the body via the blood. Alpha-1
antitrypsin protects the lungs from neutrophil elastase,
which can damage lung tissue if not properly controlled.
13. • ASSOCIATION WITH HIV
• Are Polymorphic Markers within the α-1-
Antitrypsin Gene Associated with Risk of
Human Immunodeficiency Virus Disease?
• Vanessa M. Hayes, Margaret Gardiner-Garden
• The Journal of Infectious Diseases, Volume
188, Issue 8, 15 October 2003, Page
1205, https://doi.org/10.1086/378641
14. 10. NPTXR - NEURONAL PENTRAXIN
RECEPTOR
• This gene encodes a protein similar to the rat
neuronal pentraxin receptor. The rat pentraxin
receptor is an integral membrane protein that
is thought to mediate neuronal uptake of the
snake venom toxin, taipoxin, and its transport
into the synapses. Studies in rat indicate that
translation of this mRNA initiates at a non-
AUG (CUG) codon. This may also be true for
mouse and human, based on strong sequence
conservation amongst these species.