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EXOSC10 is a nucleolar protein and represents one crucial component of the so-called "PM/Scl complex" or "nuclear exosome", which is an RNA-processing complex consisting of a number of exoribonucleases (not to be confused with certain multivesicular bodies which are shed by cultured cells into the culture fluid and are also called exosomes).
Autoantibodies against EXOSC10 occur in patients suffering from polymyositis, scleroderma or polymyositis/scleroderma overlap syndromes. While antibodies to other components of the exosome complex (PM/Scl 75, several Rrp proteins) can be found in some sera, practically all patients with autoantibodies against the PM/Scl complex are positive for EXOSC10 antibodies, making this specificity an important marker. The presence of EXOSC10 autoantibodies is a comparatively "good" prognostic sign in polymyositis/scleroderma overlap syndrome unlike the poor prognosis seen when other myositis and systemic sclerosis specific autoantibodies are present.

Troponin I (TnI), troponin T (TnT) and troponin C (TnC) form the troponin complex of the thin filaments of striated muscle. TnI is acts as the inhibitory subunit by blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains 3 genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. The TNNI3 gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in the TNNI3 gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM).

Stratifin is part of the 14-3-3 family. The 14-3-3 family of proteins plays an important regulatory function in signal transduction, checkpoint control, apoptotic and nutrient-sensing pathways. 14-3-3 proteins are highly conserved and ubiquitously expressed. There are 7 isoforms, beta, gamma, epsilon, sigma, zeta, tau and eta that have been identified in mammals. Stratifin is an epithelial cell marker that functions as a tumor suppressor whose expression can be down regulated via methylation. Failure of Stratifin expression results in a defective G2/M phase checkpoint and results in epithelial and non-epithelial tumorigenesis.

CD138 takes a part in cell adhesion. CD138 is expressed on the surface of pre-B cells and plasma cells but is absent from mature B cells. SDC1 is a selective marker for B cell lymphoblastic leukemia and lymphoplasmacytoid leukemia. SDC1 is missing from the apoptotic myeloma cells; therefore is a valuable marker for plasma cell and myeloma cells.

BCL2-associated athanogene 2 (BAG2) belongs to the Bag family of proteins. BAG2 is a chief component of the HSC 70/CHIP chaperone-dependent ubiquitin ligase complex and acts to upset CHIP-mediated ubiquitylation. BAG proteins compete with Hip for attaching to the Hsc70/Hsp70 ATPase domain and promote substrate discharge. All the BAG proteins have a roughly 45 amino acid BAG domain by the C-terminus but vary clearly in their N-terminal regions. The BAG domains of BAG1, BAG2, and BAG3 act together expressly with the Hsc70 ATPase domain in vitro and in mammalian cells. All three proteins attach with high affinity to the ATPase domain of Hsc70 and obstruct its chaperone activity in a Hip-repressible manner.

Mammalian crystallins which are water soluble structural proteins located in the vertebrate eye are classified in three forms, labeled alpha, beta and gamma. Crystallins, the primary components of the lens, raise the refractive index of the eye all through the accommodation by creating high-molecular weight aggregates that maintain transparency. CRYGS is a monomer that does not aggregate. CRYGS encodes the most substantial gamma-crystallin in adult eye lens tissue. Gamma-crystallins has a part in cataract formation due to aging or mutations in specific genes,

EFNA1 belongs to the ephrin (EPH) family. The EPH subfamily is the biggest group of receptor protein kinases and they take part in vital nervous system function and development.

CCL28 is part of the subfamily of small cytokine CC genes. CCL28 shows chemotactic activity for resting CD4 or CD8 T cells and eosinophils. CCL28 binds to chemokine receptors CCR3 and CCR10. CCL28 is involved in the physiology of extracutaneous epithelial tissues, including diverse mucosal organs. CCL28 mediates mucosal immunity in HIV exposure and infection. CCL28 is involved in the pathogenesis of inflammatory skin diseases.
Human CCL28 cDNA encodes a 127 amino acid residue precursor protein with a putative 22 amino acid residue signal peptide that is cleaved to produce the 105 amino acid residue mature protein. Human and mouse CCL28 are highly conserved, sharing 83% amino acid identity in their mature regions. CCL28 shares the most homology with CCL27/CTACK. Human and mouse CCL28 RNA expression was found to be highest in normal and pathologic colon with the protein being expressed by epithelial cells. Human CCL28 RNA was also present in normal and asthmatic lung tissues.

RAD1 is part of a heterotrimeric cell cycle checkpoint complex, recognized as the 9-1-1 complex, that is activated to stop cell cycle progression in reaction to DNA damage or incomplete DNA replication. RAD1 complex withholds the Rad9 and Hus1 proteins and takes part in cellular responses to DNA damage, by associating with Rad17 and several components of the PCNA-loading heteropentamer, replication factor C. RAD1 takes part in DNA repair and recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex. RAD1 takes part as a sliding clamp platform on DNA for several proteins that play a role in long-patch base excision repair (LP-BER). RAD1 complex stimulates DNA polymerase beta (POLB) activity by raising its affinity for the 3''-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds.

Calcium-binding protein 7 (CABP7) contains 2 EF-hand domains. CABP7 negatively regulates Golgi-to-plasma membrane trafficking by interacting with PI4KB and inhibiting its activity. The CaBP family of EF-hand containing small Ca (2+)-binding proteins has lately emerged as significant regulators of multiple targets essential to normal neuronal function in the mammalian central nervous system.

Transcription Factor B2, Mitochondrial (TFB2M) is an S-adenosyl-L-methionine-dependent methyltransferase which specifically dimethylates mitochondrial 12S rRNA at the conserved stem loop. In addition, TFB2M is essential for basal transcription of mitochondrial DNA, most likely via its interaction with POLRMT and TFAM. TFB2M promotes transcription independently of the methyltransferase activity. TFB2M like TFB1M, activates transcription of mitochondrial DNA more effectively, whilst having less methyltransferase activity.

Nectin Cell Adhesion Molecule 2, also known as NECTIN2, is a Ca(2+)-independent cell-cell adhesion molecule which is one of the plasma membrane components of adherens junctions. NECTIN2 takes a vital part in the establishment of homotypic as well as heterotypic cell to cell contacts. NECTIN2 is essential for resisting herpes simplex virus type 2 infection in transfected cells. NECTIN2 is also a possible target for antibody therapy of breast & ovarian cancers. NECTIN2 might be related with human longevity. Two diseases which have been associated with NECTIN2 are Herpes Simplex and Ovarian Cystic Teratoma.

Cation transport regulator-like protein 2 (CHAC2) is a member of the chaC family. Catalyzes the cleavage glutathione into 5-oxoproline and a Cys-Gly dipeptide. Acts specifically on glutathione, but not on other gamma-glutamyl peptides.

Platelet factor-4 is a 70-amino acid protein that is released from the alpha-granules of activated platelets and binds with high affinity to heparin. Its major physiologic role appears to be neutralization of heparin-like molecules on the endothelial surface of blood vessels, thereby inhibiting local antithrombin III activity and promoting coagulation. As a strong chemoattractant for neutrophils and fibroblasts, PF4 probably has a role in inflammation and wound repair. Oncostatin-A is a member of the CXC chemokine family. Human PF4 is used for the proof of heparin-induced thrombocytopenia. Furthermore it is used as an inhibitor in the angiogenesis during tumor therapy.

SCO Cytochrome Oxidase Deficient Homolog 1, also known as SCO1 is a member of the SCO1/2 family. Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. Furthermore, in yeast, two related COX assembly genes, SCO1 & SCO2 which are synthesis of cytochrome c oxidase, enable subunits 1 as well as 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. Among the diseases associated with SCO1 are hepatic failure, early-onset, neurologic disorder due to cytochrome c oxidase deficiency and fatal infantile cytochrome c oxidase deficiency.

Biglycan (BGN) is a small cellular or pericellular matrix proteoglycan which takes part in assembly of collagen fibrils and muscle regeneration. BGN is closely correlated in structure to two other small proteoglycans, decorin and fibromodulin. BGN interacts with several proteins involved in muscular dystrophy, including alpha-dystroglycan, alpha- and gamma-sarcoglycan and collagen VI. BGN is also critical for the assembly of the dystrophin-associated protein complex.

VPS29 is a member of a group of genes coding for vacuolar protein sorting (VPS) proteins which, when functionally damaged, lessens the efficient transfer of vacuolar hydrolases. VPS29 is a late Golgi transmembrane protein that operates as the sorting receptor for soluble vacuolar hydrolases, from the prevacuolar endosome back to the Golgi. Moreover, VPS29 takes part in the creation of the inner shell of the retromer coat for retrograde vesicles parting the prevacuolar compartment.

Alpha-2 Macroglobulin is a serine proteases inhibitor, which inhibits coagulation by inactivating thrombin and Kallikrein, it inhibits fibrinolysis by inactivating plasmin and involved in transport. Alpha-2-Macroglobulin is a large plasma protein, which is produced by the liver, it’s composed of 4 identical subunits bound together by -S-S- bonds. A2M is able to inactivate many kinds of proteinases (including serine-, cysteine-, aspartic- and metalloproteinases). A2M has a 35 amino acid "bait" region in its structure. Proteinases bind and cleave the “bait” region become bound to A2M. Macrophage receptors recognize the proteinase-A2M complex and clear it from the system. A2M binds to and removes MMP-2 and MMP-9 (active forms of the gelatinase) from the circulation using scavenger receptors on the phagocytes. The levels of Alpha-2-macroglobulin are increased in nephrotic syndrome which is a condition where the kidneys start to leak out some of the smaller blood proteins. Due to its large size, A2-macroglobulin is retained in the bloodstream. Increased production of all proteins causes A2-macroglobulin concentration to increase. Chronic renal failure might lead to amyloid by alpha-2-macroglobulin. A2M is raised in cirrhosis, pregnancy and diabetes.

CUTA is the 179 amino acid mammalian homolog of the cutA E. coli protein and is ubiquitously expressed, particularly in brain tissue. CUTA participates in cellular tolerance to a broad range of divalent cations other than copper. The CUTA protein is a cytoplasmic protein, encoded by the single-gene operon and has been related to divalent cation tolerance.

Enfuvirtide also called human immunodeficiency fusion inhibitor blocks HIV’s ability to infect healthy CD4 cells. It can reduce the amount of HIV in the blood and increase the number of CD4 cells. Enfuvirtide operates by disrupting the HIV-1 molecular machinery at the final phase of fusion with the target cell, preventing uninfected cells from becoming infected. Enfuvirtide mimics components of the HIV-1 fusion apparatus and displace them, preventing normal fusion. HIV attaches to the host CD4+ cell receptor using the viral protein GP120; upon binding, GP120 deforms allowing the viral protein GP41 to insert itself into the host cell's plasma membrane. Entry inhibitors bind to GP41 preventing the formation of an entry pore for the capsid of the virus, keeping it out of the cell.

Ataxin 3 is otherwise known as Machado-Joseph disease protein 1. Machado–Joseph disease is a hereditary autosomal dominant neurodegenerative disorder. ATXN3 contains trinucleotide CAG repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 causes the Machado-Joseph disease. ATXN3 is a poly-ubiquitin-binding protein whose cellular turnover is regulated by its catalytic activity.
In addition, ATXN3 is a proteasome-associated factor which mediates the degradation of ubiquitinated proteins. ATXN3 folds reversibly using a single intermediate; partial destabilization of ATXN3 by chemical denaturation causes the formation of fibrillar aggregates by the non-pathological variant.
Ataxin-3 interacts with the major histone acetyltransferases cAMP-response-element binding protein (CREB)-binding protein, p300, and p300/CREB-binding protein-associated factor and hinders transcription by these coactivators.

sRAGE is a member of the immunoglobulin superfamily of cell surface molecules. sRAGE is a receptor for various molecules, including the amyloidogenic form of serum amyloid A, amyloid-beta protein, members of the S100/calgranulin superfamily and advanced glycation end products. sRAGE lies within the major histocompatibility complex (MHC) class III region on chromosome 6. Alternative splicing results in two transcript variants encoding different isoforms. sRAGE mediates interactions of nonenzymatic glycosylated proteins which accumulate in vascular tissue during aging & at an increasing rate in diabetes. sRAGE is a receptor for amyloid beta peptide.

Nuclear distribution gene C homolog (NUDC) is a nuclear distribution protein. The NUDC protein has a key role in mitosis and cytokinesis. NUDC is involved in spindle formation during mitosis and in microtubule organization during cytokinesis. NUDC is required for correct formation of mitotic spindles and chromosome separation during mitosis, as well as cell proliferation. NUDC also has a role in neurogenesis and neuronal migration.