Muscle - User contributions [en]

GBP1

2018-01-27T16:48:13Z

Fedor: Created page with "Guanylate-binding protein 1 ====Action==== Hydrolyzes GTP to GMP in 2 consecutive cleavage reactions: GTP + H2O = GDP + phosphate Exhibits antiviral activity against in..."

Guanylate-binding protein 1

====Action====
Hydrolyzes GTP to GMP in 2 consecutive cleavage reactions:
 GTP + H2O = GDP + phosphate

Exhibits antiviral activity against influenza virus.

Promote oxidative killing and deliver antimicrobial peptides to autophagolysosomes, providing broad host protection against different pathogen classes.

GBP-1 is both necessary and sufficient for the inhibitory effects of IFN-γ on cell proliferation, migration, and invasion, as shown in endothelial cells and epithelial tumor cells
(17, 19, 34,–37 in <cite>1</cite>).

Purified GBP-1 and actin bound to each other, and this interaction was sufficient to impair the formation of actin filaments in vitro <cite>1</cite>.

Cosedimentation and band shift analyses demonstrated that GBP-1 binds robustly to globular actin and slightly to filamentous actin.
This indicated that GBP-1 may induce actin remodeling via globular actin sequestering and/or filament capping.<cite>1</cite>..

GBP-1 colocalized with actin at the subcellular level and was both necessary and sufficient for the extensive remodeling
of the fibrous actin structure observed in IFN-γ-exposed cells. These effects were dependent on the oligomerization and the GTPase activity of GBP-1<cite>1</cite>.

An artificial backwards-moving myosin from three pre-existing molecular building blocks:
 - a forward-moving class I myosin motor domain,
 - a directional inverter formed by a four-helix bundle segment of human guanylate-binding protein-1
 - an artificial lever arm formed by two alpha-actinin repeats.
 Reverse-direction movement of myosins can be achieved simply by rotating the direction of the lever arm 180 degrees <cite>2</cite>.

====Pathways====
GBP-1 is a major IFN-γ-induced protein in eukaryotic cells (22, 66 in <cite>1</cite>).

====Diseases====
Chronic Active Epstein-Barr Virus Infection and Aneurysmal Bone Cysts.

====References====
<biblio>
#1 pmid=24190970
#2 pmid=14765199
</biblio>

====Expression====
Upregulated - after 1 hour after exercises and after training.

[[File:GBP1.png|GBP1 expression]]

[[Category:muscle_DEGs]]

File:GBP1.png

2018-01-27T16:19:08Z

Fedor:

SERPINH1

2018-01-27T14:56:02Z

Fedor: Created page with "Serpin H1 Synonim: 47 kDa heat shock protein Member of the serpin superfamily of serine proteinase inhibitors. ====Action==== Binds specifically to collagen. Could be involve..."

Serpin H1
Synonim: 47 kDa heat shock protein

Member of the serpin superfamily of serine proteinase inhibitors.
====Action====
Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen.

The change of HSP47, collagen specific molecular chaperone, expression in rat skeletal muscle may regulate collagen production with gravitational conditions<cite>1</cite>.

The gravity-regulated HSP47 may play a role in the maintenance of the extracellular matrix by modulating collagen production at the primary stage of adaptation<cite>2</cite>..

HSP47 may be involved in the repair or regeneration of muscle fibers in addition to the fibrotic change in the connective tissue<cite>3</cite>.
====Pathways====
====Diseases====
Osteogenesis Imperfecta, Type X and Preterm Premature Rupture Of The Membranes
====References====
<biblio>
#1 pmid=15858365
#2 pmid=17054723
#3 pmid=17324572
</biblio>

====Expression====
Upregulated - after 1 hour after exercises and after training.

[[File:SERPINH1.png|SERPINH1 expression]]

Hsp47 mRNA levels in cultured myoblasts increased significantly with hypergravity treatment at 40G for 2 h, and decreased with microgravity treatment at almost 0G for 1-2 h.
Collagen mRNA levels were also altered, although changes were slower and less pronounced compared with those for HSP47. <cite>3</cite>.

[[Category:muscle_DEGs]]

File:SERPINH1.png

2018-01-27T14:20:32Z

Fedor:

NDRG1

2018-01-27T13:59:52Z

Fedor: Created page with "N-Myc Downstream Regulated 1. It belongs to the alpha/beta hydrolase superfamily. ====Action==== Acts as a tumor suppressor in many cell types. Necessary but not sufficient..."

N-Myc Downstream Regulated 1.

It belongs to the alpha/beta hydrolase superfamily.

====Action====
Acts as a tumor suppressor in many cell types. Necessary but not sufficient for p53/TP53-mediated caspase activation and apoptosis.

Has a role in cell trafficking, notably of the Schwann cell, and is necessary for the maintenance and development of the peripheral nerve myelin sheath.

Required for vesicular recycling of CDH1 and TF. May also function in lipid trafficking.

Protects cells from spindle disruption damage. Functions in p53/TP53-dependent mitotic spindle checkpoint. Regulates microtubule dynamics and maintains euploidy.

This gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation.

The mTORC2 substrate, phosphorylated protein kinase C α (PKCα), and the mTORC2 activity readout, phosphorylated N-myc downstream regulated 1 (NDRG1) protein increased with running in Ric WT mice,
but were not altered by running in Ric mKO muscle.

====Pathways====
The mammalian target of rapamycin complex 2 (mTORC2) is an important regulator of
muscle glucose uptake in response to insulin stimulation.

p-NDRG1 T346 and p-mTOR S2481 have been characterized and used as in vivo markers of mTORC2 activity<cite>1</cite>

SGK1 phosphorylates NDRG1 at three residues, T346, T356 and T366
It has been suggested that the phosphorylations of these residues are excellent surrogates of
mTORC2 activity. Thus, p-NDRG1 T346 has been widely used in this capacity of an mTORC2
biomarker<cite>1</cite>.
====Diseases====
Charcot-Marie-Tooth Disease, Type 4D and Congenital Hypomyelination Neuropathy
====References====
<biblio>
#1 pmid=28464351
</biblio>

====Expression====
Upregulated - after 1 hour after exercises.

[[File:NDRG1.png|NDRG1 expression]]

[[Category:muscle_DEGs]]

File:NDRG1.png

2018-01-27T13:49:23Z

Fedor:

ACTG1

2018-01-27T12:29:43Z

Fedor:

Actin Gamma 1

====Expression====
Upregulated - after 1 hour after exercises.

[[File:ACTG1.png|ACTG1 expression]]

[[Category:muscle_DEGs]]
[[Category:actin]]

Category:Actin

2018-01-27T12:23:55Z

Fedor: Created page with "Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. In vertebrates 3 main groups..."

Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified.

The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus.

The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility.

ACTG1

2018-01-27T12:23:33Z

Fedor: Created page with "Actin Gamma 1 See Actin ====References==== <biblio> #1 pmid= </biblio> ====Expression==== Upregulated - after 1 hour after exercises. File:ACTG1.png|ACTG1 expression..."

Actin Gamma 1

See [[Actin]]

====References====
<biblio>
#1 pmid=
</biblio>

====Expression====
Upregulated - after 1 hour after exercises.

[[File:ACTG1.png|ACTG1 expression]]

[[Category:muscle_DEGs]]
[[Category:actin]]

File:ACTG1.png

2018-01-27T12:18:45Z

Fedor:

TPM4

2018-01-27T11:59:02Z

Fedor: Created page with "Tropomyosin alpha-4 chain Tropomyosins are dimers of coiled-coil proteins that polymerize end-to-end along the major groove in most actin filaments. Multiple transcript var..."

Tropomyosin alpha-4 chain

Tropomyosins are dimers of coiled-coil proteins that polymerize end-to-end along the major groove in most actin filaments.

Multiple transcript variants encoding different isoforms have been found for this gene.
====Action====
Binds to actin filaments in muscle and non-muscle cells.

Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction.

Provides stability to the filaments and regulate access of other actin-binding proteins. In muscle cells, they regulate muscle contraction by controlling the binding of myosin heads to the actin filament.

Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments (By similarity).

Binds calcium (PubMed:1836432)
====Pathways====
====Diseases====
Inflammatory Myofibroblastic Tumor, Autosomal Dominant Macrothrombocytopenia.

====Expression====
Upregulated - after 1 hour after exercises.

[[File:TPM4.png|TPM4 expression]]

[[Category:muscle_DEGs]]

File:TPM4.png

2018-01-27T11:46:27Z

Fedor:

CNN2

2018-01-26T11:24:21Z

Fedor: Created page with "Calponin 2. Alternative splicing results in multiple transcript variants encoding different isoforms. Calponin ====Action==== Thin filament-associated protein that is..."

Calponin 2.

Alternative splicing results in multiple transcript variants encoding different isoforms.

[[Calponin]]

====Action====
Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction.

The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity.

It is capable of binding to actin, calmodulin, troponin C and tropomyosin.

May function in the structural organization of actin filaments.

It could play a role in smooth muscle contraction and cell adhesion.

====Pathways====
Cytoskeleton tension regulates the transcription of CNN2 gene and the degradation of calponin 2 protein <cite>1</cite>.

Regulated by transcriptional factor HES-1 (hairy and enhancer of split 1) in the 5′-upstream region of mouse Cnn2 promoter (Jiang et al., 2014)<cite>1</cite>.

Deletion or mutation of the HES-1 site in mouse Cnn2 promoter abolished the mechanical regulation and resulted in a substrate stiffness independent high level of transcriptional activity.
Therefore, the regulatory mechanism is via a low tension-induced repression of transcription.

Corresponding to the down-regulation of Cnn2 gene expression, the level of HES-1 increased in cells cultured on soft gel substrates in comparison with that in cells cultured on hard gels (Jiang et al., 2014).
HES-1 is known to function downstream of the Notch-RBP J signaling pathway (Kageyama et al., 1997), which has been suggested to mediate cellular mechanoregulations (Morrow et al., 2005; Morrow et al., 2007).
<cite>1</cite>.

====Diseases====

====References====
<biblio>
#1 pmid=26970176
#2 pmid=2500984
</biblio>

====Expression====
Upregulated - after 1 hour after exercises.

[[File:CNN2.png|CNN2 expression]]

[[Category:muscle_DEGs]]
[[Category:Calponin]]

File:CNN2.png

2018-01-26T11:14:11Z

Fedor:

LRRC10

2018-01-26T08:58:15Z

Fedor: Created page with "Leucine-rich repeat containing protein (LRRC)10 is a cardiac-specific member of the LRRC superfamily. ====Action==== LRRC10 has no other known functional domains other than i..."

Leucine-rich repeat containing protein (LRRC)10 is a cardiac-specific member of the LRRC superfamily.

====Action====
LRRC10 has no other known functional domains other than its LRRs (28 in <cite>1</cite>), suggesting that it mediates its biological functions by interacting with other proteins.

LRRC10 interacts with actin and α-actinin in the heart (8) and localizes at the dyad region where the Z-disc comes into close juxtaposition to the T-tubule and sarcoplasmic reticulum (8, 28).

This places LRRC10 at a mechanosensitive signaling hub in cardiomyocytes (19).

Lrrc10−/− mice exhibit increased cardiac growth in response to pressure overload <cite>1</cite>.

Lrrc10−/− myocytes have reduced single cell contractility in response to adrenergic stimulation,
indicating that LRRC10 is indispensable for the response of the mammalian heart to biomechanical stress <cite>1</cite>.

Deletion of Lrrc10 greatly exacerbates cardiac dysfunction in response to pressure overload <cite>1</cite>.

His150 of LRRC10 mediates its interaction with actin in the heart and that the interaction of LRRC10 with actin is reduced after pressure overload,
suggesting a potential mechanosensing function for LRRC10 <cite>1</cite>.

LRRC10 may serve as a cardiomyocyte-specific scaffolding protein to tether important structural or signaling molecules to mediate appropriate responses to mechanical stress.
Z-disc proteins such as muscle LIM protein (2, 29), Cypher (56, 57), and telethonin (29, 30) are thought to compose a mechanosensory signalosome
that allows the cardiomyocyte to internally sense and respond to mechanical stretch or strain <cite>1</cite>.

Moreover, LRRC39, a striated muscle-specific LRRC, acts as a mechanosensor at the cardiomyocyte M-line by regulating serum response factor-dependent transcription (51).

====Pathways====
The cardiomyocyte-specific expression of Lrrc10 is regulated by Nkx2.5, GATA4, and serum response factor (7).

====Diseases====
Mutations in the LRRC10 gene have been recently linked to human dilated cardiomyopathy (43).

====Expression====
Lrrc10 is expressed exclusively in cardiomyocytes <cite>1</cite>.

====References====
<biblio>
#1 pmid=26608339
#2 pmid=
</biblio>

[[Category:mechanosensor]]

LRRC10B

2018-01-26T08:38:03Z

Fedor:

LRRC10B (Leucine Rich Repeat Containing 10B) is a Protein Coding gene.

An important paralog of this gene is [[LRRC10]] - a cardiac-specific member of the LRRC superfamily.
May be function of LRRC10B is the same as [[LRRC10]].

====Expression====
Upregulated - after 1 hour after exercises.

[[File:LRRC10B.png|LRRC10B expression]]

[[Category:muscle_DEGs]]

LRRC10B

2018-01-26T08:34:41Z

Fedor: Created page with "LRRC10B (Leucine Rich Repeat Containing 10B) is a Protein Coding gene. An important paralog of this gene is LRRC10. ====Expression==== Upregulated - after 1 hour after e..."

LRRC10B (Leucine Rich Repeat Containing 10B) is a Protein Coding gene.

An important paralog of this gene is [[LRRC10]].
====Expression====
Upregulated - after 1 hour after exercises.

[[File:LRRC10B.png|LRRC10B expression]]

[[Category:muscle_DEGs]]

File:LRRC10B.png

2018-01-26T08:28:04Z

Fedor:

Category:Muscle DEGs

2018-01-26T07:36:28Z

Fedor: Created page with "List of differentially expressed genes in muscles after physical exercises."

List of differentially expressed genes in muscles after physical exercises.

MEOX1

2018-01-26T07:35:01Z

Fedor:

Mesodermal transcription factor that plays a key role in somitogenesis and is specifically required for sclerotome development.

Required for maintenance of the sclerotome polarity and formation of the cranio-cervical joints (PubMed:23290072, PubMed:24073994).

<cite>1</cite> - The formation of skeletal muscle: from somite to limb

====Action====
http://www.uniprot.org/uniprot/P50221#function

Binds specifically to the promoter of target genes and regulates their expression.

Activates expression of NKX3-2 in the sclerotome.

Activates expression of CDKN1A and CDKN2A in endothelial cells, acting as a regulator of vascular cell proliferation.

While it activates CDKN1A in a DNA-dependent manner, it activates CDKN2A in a DNA-independent manner.

Required for hematopoietic stem cell (HSCs) induction via its role in somitogenesis:
specification of HSCs occurs via the deployment of a specific endothelial precursor population, which arises within a sub-compartment of the somite named endotome.

Analysis of pre-myogenic factors showed that expression of PAX3, MEOX1 and EYA2 was significantly increased by MYOD <cite>2</cite>.

Meox1 promotes vascular smooth muscle cells (SMCs) phenotypic modulation and injury-induced vascular remodeling by regulating the FAK-ERK1/2-autophagy signaling cascade<cite>3</cite>.

Meox1 initiates G2 cell-cycle arrest within muscle stem cells<cite>4</cite>.

Pax3 is both necessary and sufficient to induce skeletal myogenesis, Meox1 is required for Pax3 expression and subsequent myogenic differentiation ([21–23] in <cite>5</cite>).

Transduction of hAFS (human amniotic fluid stem) cells with MYOD lentiviruses induces skeletal myogenic differentiation in vitro and morphological and functional regeneration of injured muscle in vivo.
Analysis of pre-myogenic factors showed that expression of PAX3, MEOX1 and EYA2 was significantly increased by MYOD <cite>6</cite>.

====Pathways====
ERK1/2 for vascular smooth muscle cells (SMCs) <cite>3</cite>.

====Diseases====
Diseases associated with MEOX1 include Klippel-Feil Syndrome 2 and Isolated Klippel-Feil Syndrome.

====References====
<biblio>
#1 pmid=12587921
#2 pmid=24331373
#3 pmid=29113690
#4 pmid=28686860
#5 pmid=28469839
#6 pmid=24331373
</biblio>

====Expression====
Upregulated - mainly after 1 hour after exercise and has increased level after long training.

[[File:MEOX1.png|MEOX1 expression]]

====Coregulation====
VASP (0.89), CDC42EP1 (0.88), IQCJ-SCHIP1 (0.87), TES(0.87), ABRACL(0.87), KCNK6(0.87), TINAGL1(0.87), GLIS2(0.86), PCGF2(0.86), IL27RA(0.86), VWA1(0.86), PLEKHG2(0.85), PDGFB(0.85),
ENG(0.85), ERF(0.85), SHROOM1(0.84), FAM57A(0.84), ELFN1(0.84), PPP1R13L(0.84), ITGA5(0.84), RAB32(0.84), MYADM(0.84), RNF152(0.83), CNN2(0.83), CDR2L(0.83), TMC6(0.83),
ZBTB46(0.83), NOVA2(0.87), TGFB1I1(0.83), ELF4(0.83), PGM2(0.83), GBP1(0.83), PRKD2(0.83), NOL4L(0.82), SH2D3C(0.82), ZYX(0.82), TPM4(0.82), EPHA2(0.82), NECTIN2(0.82),
SERPINH1(0.82), ACTN4(0.82), MMRN2(0.81), TAL1(0.82), SPATA2L(0.81), TRIM47(0.81), TGFB1(0.81), MYH9(0.81), LCP2(0.81), YWHAH(0.81), BCL6B(0.81), DLL1(0.80),
TAGLN2(0.80), TBC1D9(0.80), SOX18(0.80), ID2(0.80), TAGLN2P1(0.80), MARCKSL1(0.80), MYL6P5(0.80), DLC1(0.79), ACTG1(0.79), HEYL(0.79), KCTD15(0.79), ...

HOXA10(-0.76), CLCN1(-0.71), KIF1C(-0.70), ZNF865(-0.68), RYR1(-0.67), ZC2HC1C(-0.67), NR1H2(-0.66), ...

[[Category:muscle_DEGs]]

IRF2BP2

2018-01-26T07:34:39Z

Fedor:

IRF2BP2 (Interferon Regulatory Factor 2 Binding Protein 2) is a Protein Coding gene.

Alternative splicing results in multiple transcript variants encoding distinct isoforms.

====Action====
IRF2BP2 interacts with the C-terminal transcriptional repression domain of IRF2.

Acts as a transcriptional corepressor in a IRF2-dependent manner; this repression is not mediated by histone deacetylase activities.

Represses the NFAT1-dependent transactivation of NFAT-responsive promoters.

Acts as a coactivator of VEGFA expression in cardiac and skeletal muscle<cite>1</cite>.

Northern blot analysis revealed high levels of IRF2BP2 mRNA in adult human heart and skeletal muscles,
'''but immunoblot analysis showed low levels of IRF2BP2 protein in skeletal muscle, indicating post-transcriptional regulation of IRF2BP2 expression''' <cite>1</cite>.

IRF2BP2 protein levels are markedly increased by ischemia in skeletal and cardiac muscle compared to normoxic controls.
IRF2BP2 is a novel ischemia-induced coactivator of VEGFA expression that may contribute to revascularization of ischemic cardiac and skeletal muscles<cite>1</cite>.

====Pathways====
... todo

====Diseases====
Diseases associated with IRF2BP2 include Mesenchymal Chondrosarcoma and Common Variable Immunodeficiency.

====References====

<biblio>
#1 pmid=20702774
</biblio>

====Expression====
Upregulated - mainly after 1 hour after exercise.

[[File:IRF2BP2.png|IRF2BP2 expression]]

====Coregulation====
{| class="wikitable"
|Gene
|SIAH2
|MNT
|WBP1L
|BHLHE40
|SLC25A25
|ELMSAN1
|PIP5K1C
|ARID5B
|CTGF
|KLF11
|CX3CL1
|LRRC8A
|-
|r
|0.7785532
|0.7768744
|0.7723620
|0.7699279
|0.7516998
|0.7476651
|0.7470779
|0.7165333
|0.7135609
|0.7129015
|0.7070233
|0.7015876
|}

[[Category:muscle_DEGs]]

GCH1

2018-01-26T07:34:17Z

Fedor:

This gene encodes a member of the GTP cyclohydrolase family.

====Action====
The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate.

BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases.

GTP + H2O = formate + 2-amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl)-dihydropteridine triphosphate

May modify pain sensitivity and persistence <cite>1</cite>.
====Kinetics====
KM=116 µM for GTP <cite>2</cite>.
====Pathways====
7,8-dihydroneopterin triphosphate biosynthesis
eNOS activation

====Diseases====
Hyperphenylalaninemia, Bh4-Deficient, B and Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia.

====References====
<biblio>
#1 pmid=24373571
#2 pmid=2500984
</biblio>

====Expression====
Upregulated - after 1 hour after exercises.

[[File:GCH1.png|GCH1 expression]]

[[Category:muscle_DEGs]]

File:GCH1.png

2018-01-26T02:55:25Z

Fedor:

GCH1

2018-01-26T02:52:51Z

Fedor:

GCH1

2018-01-26T02:48:51Z

Fedor: Created page with "This gene encodes a member of the GTP cyclohydrolase family. ====Action==== The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthes..."

This gene encodes a member of the GTP cyclohydrolase family.

====Action====
The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate.

BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases.

GTP + H2O = formate + 2-amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl)-dihydropteridine triphosphate

May modify pain sensitivity and persistence <cite>1</cite>.
====Pathways====
eNOS activation

====Diseases====
Hyperphenylalaninemia, Bh4-Deficient, B and Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia.

====References====
<biblio>
#1 pmid=24373571
</biblio>

====Expression====
Upregulated - after 1 hour after exercises.

[[File:GCH1.png|GCH1 expression]]

File:GSH1.png

2018-01-26T02:45:13Z

Fedor:

IRF2BP2

2018-01-26T02:25:34Z

Fedor:

MEOX1

2018-01-24T17:01:22Z

Fedor: Created page with "Mesodermal transcription factor that plays a key role in somitogenesis and is specifically required for sclerotome development. Required for maintenance of the sclerotome po..."

File:MEOX1.png

2018-01-24T15:55:13Z

Fedor:

IRF2BP2

2018-01-23T10:56:40Z

Fedor:

IRF2BP2

2018-01-23T10:53:36Z

Fedor: Created page with "IRF2BP2 (Interferon Regulatory Factor 2 Binding Protein 2) is a Protein Coding gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms...."

File:IRF2BP2.png

2018-01-23T10:20:29Z

Fedor: