"PROSCI"

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FAM105A belongs to the FAM105 family. The exact function of FAM105A remains unknown.

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ALG1 catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. Defects in ALG1 are the cause of congenital disorder of glycosylation type 1K (CDG1K).The biosynthesis of lipid-linked oligosaccharides is highly conserved among eukaryotes and is catalyzed by 14 glycosyltransferases in an ordered stepwise manner. Mannosyltransferase I (MT I) catalyzes the first mannosylation step in this process.

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BHLHA15 (basic helix-loop-helix protein 15), also known as MIST1 (muscle intestine and stomach expression 1) belongs to the bHLH family of transcription factors and plays a role in regulating the transcriptional activity of MYOD1 in muscle cell development as well as serving as a key regulator of acinar cell function (1,2). BHLHA15 contains a basic helix-loop-helix (bHLH) domain and is capable of binding to E-box motifs as a homodimer or a heterodimer with E-proteins. It may also negatively regulate bHLH-mediated transcription through a N-terminal repressor domain. It is expressed in mammary epithelial cells and is essential for the regulation of mammary gland development.

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Netrin-1 controls guidance of CNS commissural axons and peripheral motor axons. Its association with either DCC or some UNC5 receptors will lead to axon attraction or repulsion, respectively. It also serve as a survival factor via its association with its receptors which prevent the initiation of apoptosis. Netrin 1 is also Involved in tumorigenesis by regulating apoptosis.

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Flavin-dependent histone demethylases regulate histone lysine methylation, an epigenetic mark that regulates gene expression and chromatin function . KDM1B is a recently identified histone H3K4 demethylase that is required to establish maternal genomic imprints; targeted disruption of the KDM1B gene in mice led to lethality in their embryos, suggesting demethylation of H3K4 is critical for establishing the DNA methylation imprints. KDM1B has also been shown to play a role in the transcription elongation in several genes.

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BCMA is a receptor for BAFF and APRIL. It promotes B cell survival and plays a role in the regulation of humoral immunity. It's downstream signalling is dependent on NF-kappaB and JNK.

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The ZNF821 protein contains two C2H2 zinc finger motifs and a score-and-three (23)-amino acid peptide repeat (STPR) domain. The STPR domain of the encoded protein binds to double stranded DNA and may also contain a nuclear localization signal, suggesting that this protein interacts with chromosomal DNA. The exact function of ZNF821, however, remains unknown.

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Pigment epithelium-derived factor (PEDF) is a 47 kDa secreted glycoprotein that belongs to the non-inhibitory serpin family group. PEDF is widely expressed in adult and foetal tissues, including brain, spinal cord, plasma, bone, prostate, pancreas, heart and lung. PEDF acts as an angiogenesis inhibitor with neurotrophic, immunomodulation and antitumor properties. It functions as anti-angiogenic agent by counterbalancing the proangiogenic effect of VEGF. PEDF is one of the most abundant proteins released by adipocytes and induces insulin resistance in adipocytes and human skeletal muscle cells. Recently, it has been reported that PEDF is sufficient to maintain the self-renewal of pluripotent human embryonic stem cells.

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The LRRC26 protein was initially identified as a cytokeratin-associated protein whose expression was elevated in multiple cancer cell lines and cancer specimens as well in normal prostate and salivary gland tissues. LRRC26 was later found to negatively regulate the NF-kappaB activation and suppresses tumor growth and metastasis. LRRC26 can also act to selectively alter the efficacy of large conductance calcium-activated K (BK) channels.

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Darcin (also called Mup20) belongs to the family of major urinary proteins (MUPs), a subfamily of proteins found in abundance in the urine. Like all MUPs, Darcin is a member of the lipocalin family of ligand-binding proteins, and preferentially binds the volatile pheromone (S)-2-sec-butyl-4,5-dihydrothiazole (SBT). Darcin is present in the urine of male and acts as a sex pheromone that elicits female sexual attraction to a male's urine scent. Recombinant Darcin shows similar activity compared to natural Darcin.

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COMMD7 (COMM domain-containing protein 7) plays a role in the regulation NF-kappaB. It associates with the NF-kB complex and suppresses its transcriptional activity. COMMD7 contains 1 COMM domain and widely expressed with highest expression in lung. COMMD7 is a newly identified gene overexpressed in hepatocellular carcinoma (HCC). COMMD7 is associated with tumor invasion and poor prognosis by NF-kappaB signaling pathway.

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B-cell activating factor belonging to the TNF family receptor (BAFF-R), B-cell maturation antigen (BCMA), and transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) play critical functions in promoting B-cell survival by engaging the ligands a proliferation-inducing ligand (APRIL) and/or BAFF. TACI is predominantly expressed on peripheral blood B cells and interacts with the B cell activating factor (BAFF) of ligands and a proliferation inducing ligand (APRIL), which are expressed by numerous cell types, including dendritic cells, macrophages and neutrophils. TNFRSF13B, the gene, which encodes TACI is mutated in nearly 10% of patients with common variable immune deficiency (CVID), an antibody deficiency syndrome characterised by loss of memory B cells and plasma cells.

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LRRC8A is a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. LRRC8A is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene.

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MDM1 is a nuclear protein similar to the mouse double minute 1 protein. The mouse gene is located in double minute (DM) chromatin particles and is amplified in the mouse transformed 3T3 cell line, and the protein is able to bind to p53. This gene encodes a nuclear protein similar to the mouse double minute 1 protein. The mouse gene is located in double minute (DM) chromatin particles and is amplified in the mouse transformed 3T3 cell line, and the protein is able to bind to p53. In mouse several transcripts have been described for this gene which result from alternative polyadenylation, splicing and exon usage.

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The exact function of C15orf24 remains unknown.

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CNNM4 belongs to the ACDP family.It is a metal transporter. The interaction with the metal ion chaperone COX11 suggests that CNNM4 may play a role in sensory neuron functions.