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NADH Dehydrogenase Flavoprotein 2 (NDUFV2) is a 24 kDa Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is a part of the minimal assembly required for catalysisthe. NDUFV2 is aslo involved in electron transfer. Mutations in NDUFV2 are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been discovered in one case of early onset hypertrophic cardiomyopathy and encephalopathy.

SIVA1, also referred to asApoptosis regulatory protein Siva isoform 1, is a death domain-containing proapoptotic protein. It is known as glucocorticoid-induced TNFR family-related gene, and also as an intracellular ligand of CD27, which are both members of the TNFR family expressed on lymphoid cells. There isn’t much known about the signalling pathway underlying the Siva-induced apoptosis.SIVA1 expression is modulated in multiple pathological processes.

Chemokine (C-X-C motif) ligand 11 (CXCL11) is a small cytokine belonging to the CXC chemokinen family that is also called inducible T-cell alpha chemoattractant (I-TAC) and (IP-9). I-TAC is highly expressed in peripheral blood leukocytes, pancreas and liver, with moderate levels in thymus, spleen and lung and low expression levels were in small intestine, placenta and prostate. Gene expression of CXCL11 is strongly induced by IFN-g and IFN-b, and weakly induced by IFN-a. The I-TAC chemokine elicits its effects on its target cells by interacting with the cell surface chemokine receptor CXCR3, with a higher affinity than do the other ligands for this receptor, CXCL9 and CXCL10. I-TAC is chemotactic for activated T cells. The CXCL11 gene is located on human chromosome 4 along with many other members of the CXC chemokine family.

DYNLL1 is a protein that cooperates with NOS1 causing NOS1 inhibition. Binding of DYNLL1 weakens NOS1 (Neuronal nitric oxide synthase) dimer, a conformation needed for activity, and it regulates several biologic processes through its effects on nitric oxide synthase activity. DYNLL1 is a ubiquitously expressed protein that demonstrates high expression in testis and moderate expression in brain.

ArsA Arsenite Transporter, ATP-Binding, Homolog 1 (ASNA1) is a part of the arsA ATPase family. ASNA1 is the human homolog of the bacterial arsA gene. ArsA ATPase is the catalytic component of a multisubunit oxyanion pump In E.coli, which is in charge for resistance to arsenicals and antimonials. ASNA1 is also a main component of a transmembrane domain (TMD) recognition complex (TRC) which is involved in the post-translational delivery of tail-anchored (TA) proteins from the cytosol to the endoplasmic reticulum (ER).

ATPase Transporting, Lysosomal V1 Subunit F (ATP6V1F) is a component of vacuolar ATPase (V-ATPase); it is a multi-subunit enzyme, which mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is required for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain contains 3 A and 3 B subunits, 2 G subunits as well as the C, D, E, F, and H subunits. The V1 domain has the ATP catalytic site. The V0 domain consists of 5 different subunits: a, c, c', c', and d.

Immunoglobulin Lambda-Like Polypeptide 1 (IGLL1) is one of the substitute light chain subunits and is a part of the immunoglobulin gene superfamily which does not undergo rearrangement. Two transcript variants encoding diverse isoforms have been found for IGLL1. Mutations in IGLL1 can bring about B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or no gamma globulins or antibodies are made.

BCL2-Like 1 (BCL2L1) belongs to the BCL-2 protein family. BCL2L1 is found at the outer mitochondrial membrane controls outer mitochondrial membrane channel (VDAC) opening. In addition, BCL2L1 regulate s a switch between cell death modes during mitotic arrest.

Streptavidin is a tetrameric protein secreted by Streptomyces avidinii which binds firmly to biotin. Streptavidin is widely used in molecular biology through its unique high affinity for the vitamin biotin. The dissociation constant (Kd) of the biotin-streptavidin complex is about ~10-15 mol/L. The strong affinity recognition of biotin and biotinylated molecules has made streptavidin one of the most important components in diagnostics and laboratory kits. The streptavidin/biotin system has one of the biggest free energies of association of yet observed for noncovalent binding of a protein and small ligand in aqueous solution (K_assoc = 10**14). The complexes are also extremely stable over a wide range of temperature and pH.

ETHE1 is a mitochondrial sulfur dioxygenase involved in catabolism of sulfide that accumulates to toxic levels in ethylmalonic encephalopathy. Mutations of ETHE1 were detected in all the typical ethylmalonic encephalopathy patients analysed, but no ETHE1 mutations were identified in patients presenting with early onset progressive encephalopathy with ethylmalonic aciduria.

C11ORF31 (Chromosome 11 Open Reading Frame 31) is a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon which ordinarily signals translation termination. The 3' UTR of selenoprotein genes have a mutual stem-loop structure, the sec insertion sequence (SECIS), which is essential for the recognition of UGA as a Sec codon rather than as a stop signal. The exact function of the C11ORF31 gene is not known, however, selenoproteins are assumed to be responsible for most biomedical effects of dietary selenium. C11ORF31 is involved in a redox-related process.

TIGAR is a p53-inducible enzyme which catalyzes the hydrolysis of fructose-2-6 bisphosphate (F-2-6-BP) to fructose-6-phosphate and inorganic phosphate. F-2-6-BP is an influential activator of 6-phosphofructose-1 kinase (the rate limiting enzyme of glycolysis). By lowering the intracellular level of F-2-6-BP, TIGAR expression leads to increased glucose processing through the pentose phosphate pathway, the main cellular source for NADPH. Protein transduction using TAT fusion proteins represents an alternative methodology for introducing transcription factors and other intracellular proteins into primary as well as transformed cells.

TAF15 is a member of the TET family of RNA-binding proteins. TAF15 is a component of a subset of multi-subunit transcription initiation factor TFIID complexes which takes part in RNA polymerase II gene transcription. Translocations involving TAF15 are found in severe leukemia and extraskeletal myxoid chondrosarcoma. Mutations in TAF15 take part in amyotrophic lateral sclerosis.

TCEA1 is a member of the TFS-II family. TCEA1 binds to Pol II and operates to cleave the emerging transcript, thus unlocking the complex and permitting transcription to continue. TCEA1 is localized to the nucleus and holds three independently-folding domains that are essential for accurate binding to Pol II. The arresting sites in are able to trap a certain segment of elongating RNA polymerases that goes through, causing in a locked ternary complex. Cleavage of the emerging transcript by S-II enables the renewal of elongation from the new 3'-terminus.

CAMLG binds to cyclophilin B and operates downstream of the TCR and upstream of calcineurin by causing an influx of calcium. CAMLG is an essential membrane protein that takes part in the calcium signal transduction pathway, connecting cyclophilin B to calcium signaling.

FLT3 ligand is a receptor for the fl cytokine has a tyrosine-protein kinase activity & a growth factor that regulates proliferation of early hematopoietic cells. Flt3-Ligand synergizes with other CSFs and interleukins to induce growth and differentiation.

TMEFF1 is a type I transmembrane glycoprotein which includes 2 follistatin modules and an EGF domain in its extracellular domain, a transmembrane domain and a short cytoplasmic tail. The extracellular domain of TMEFF1 can be released as a soluble protein. TMEFF1 is primarily expressed in brain, but is downregulated in brain neoplasms. TMEFF1 selectively regulates nodal but not activin signaling through direct binding to the nodal co-receptor, Cripto. TMEFF inhibits NODAL and BMP signaling through neural patterning and also a possible tumor suppressor in brain cancers.

LDLRAP1 is a cytosolic protein that holds a phosphotyrosine binding (PTD) domain and performing as a cytosolic adaptor it couples LDLR to endocytic machinery. Mutations in LDLRAP1 are the reason for autosomal recessive hypercholesterolemia (ARH) which is a condition triggered by defective internalization of LDL receptors (LDLR) in the liver.

Tetratricopeptide repeat protein 1 (TTC1) is comprised of 292 amino acids with 3 TPR motifs, such as a Galpha16-binding protein. This interaction is confirmed both in vitro and in transfected mammalian cells, where TTC1 also binds to a number of other Galpha proteins. TTC1 interacts with Ha-Ras especially in its active form. TTC1 also interacts with the GAP domain of NF1.

TUBG1 belongs to the tubulin superfamily. TUBG1 localizes to the centrosome and binds to microtubules to create the gamma-tubulin ring complex. TUBG1 facilitates the microtubule nucleation and is essential for microtubule formation and progression of the cell cycle.

The precise role of CFLAR is not yet revealed but it seems it is vital in apoptosis regulation downstream of all identified death receptors.

UCHL5 is a member of the peptidase C12 family. UCHL5 protein is a protease that specifically cleaves 'Lys-48'-linked polyubiquitin chains, and deubiquitinating enzyme related to the 19S regulatory subunit of the 26S proteasome.

USH1C gene product Harmonin, is a scaffold protein which functions in the assembly of Usher protein complexes. Harmonin is able to attach to various proteins in cell membranes and coordinate their activities. Harmonin contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. USH1C is expressed in the small intestine, colon, kidney, eye, vestibule of the inner ear and weakly in the pancreas.
Mutations in the USH1C gene cause the Usher syndrome type I which is an autosomal recessive sensory defect involving congenital profound sensorineural deafness, vestibular dysfunction, and blindness due to progressive retinitis pigmentosa. Sensorineural deafness is caused by damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The 3 types of the Usher syndrome (1- 3) are distinguished by age at onset and differences in auditory and vestibular function. USH1C gene defects cause of non-syndromic sensorineural deafness autosomal recessive type 18 (DFNB18), is a form of sensorineural hearing loss.