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Anti-CCDC90A Rabbit Polyclonal Antibody

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Increase in fetal surfactant synthesis and lung maturity is caused by the glucocorticoidal induction of enzymes required for phosphatidylcholine synthesis towards the end of gestation (1). The regulation of gestational age-dependent induction of phosphatidylcholine synthesis by glucocorticoids is still unclear (1). The rate-controlling enzyme in the phosphatidylcholine biosynthetic pathway is CTP-phosphocholine cytidylyltransferase A (CCT A) (2–4). In cultured eukaryotic cells, this enzyme is essential for survival (3). The alpha isoform is located in the nucleus and is regulated by reversible phosphorylation and membrane association (3). There is significant identity between the alpha-helical membrane-binding domains of CCT A and soybean oleosin (2). Expressed CCT A has lipid-dependent cytidylyltransferase activity (5). The gene which encodes CCT A maps to human chromosome 3q (4).

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DEGS1 is a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. It contains three His containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It has sphingolipid-delta-4-desaturase activity and converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine).

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Human Pecanex proteins are homologs of the Drosophila Pecanex protein, a maternal-effect neurogenic protein that is involved in normal development of the fly nervous system. Three human Pecanex homologs exist, designated Pecanex, Pecanex 2, also known as PCNXL2 (pecanex-like 2), and Pecanex 3. Pecanex 2 is a 2,137 amino acid multi-pass membrane protein that exists as five alternatively spliced isoforms characterized by high mutational frequencies and biallelic mutations in colorectal tumors, thereby likely functioning as a target gene in these tumors. Pecanex 2 is encoded by a gene that maps to human chromosome 1q42.2, which is linked to an inherited microduplication. This microduplication that includes Pecanex 2 may play a role in autism and mild mental retardation.

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Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf174 gene product has been provisionally designated C1orf174 pending further characterization.

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May act as a GTPase-activating protein for RAB2A, RAB8A, RAB10 and RAB14. Isoform 2 promotes insulin-induced glucose transporter SLC2A4/GLUT4 translocation at the plasma membrane, thus increasing glucose uptake.

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CGR19 is involved in the negative regulation of cell proliferation and cell cycle arrest in response to stress.

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E2-like enzyme involved in autophagy. Acts as an E2-like enzyme that catalyzes the conjugation of ATG12 to ATG5. ATG12 conjugation to ATG5 is required for autophagy. Likely serves as an ATG5-recognition molecule. Not involved in ATG12 conjugation to ATG3.

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Adipogenesis, the process of transforming pre-adipocytes into mature fat cells, is of particular interest due to the role adipocytes play in obesity and type II diabetes. Adipocytes have been shown to affect a variety of functions, including hemostasis, angiogenesis and energy balance, by secreting hormones and bioactive peptides. The FNDC3B protein, also designated FAD104 (factor for adipocyte differentiation 104) or HCV NS5A-binding protein 37, is expressed during early adipogenesis. Belonging to the FNDC3 family of proteins, FNDC3B is a 1,204 amino acid protein that contains nine fibronectin type-III domains. FNDC3B-deficient mice die within one day of birth, suggesting that FNDC3B is crucial for postpartum survival. Mouse embryonic fibroblasts (MEFs) with loss of FNDC3B function displayed a reduction in stress fiber formation, indicating a role for FNDC3B in cell proliferation, adhesion, spreading and migration.

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CDCA7L is a member of the CDCA (cell division cycle associated) protein family. Members of this family have expression patterns associated with other known cell cycle genes such as cyclins and CDC genes. CDCA7L plays a role in transcriptional regulation as a repressor that inhibits monoamine oxidase A (MAOA) activity and gene expression by binding to the promoter. It also plays an important oncogenic role in mediating the full transforming effect of MYC in medulloblastoma cells. It is involved in apoptotic signaling pathways and may act downstream of P38-kinase and BCL-2, but upstream of CASP3/caspase-3 as well as CCND1/cyclin D1 and E2F1.

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CCDC117 is a 279 amino acid protein that is expressed as multiple alternatively spliced isoforms and is encoded by a gene which maps to human chromosome 22. Chromosome 22 houses over 500 genes and is the second smallest human chromosome. Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome, Neurofibromatosis type 2, autism and schizophrenia. Additionally, translocations between chromosomes 9 and 22 may lead to the formation of the Philadelphia chromosome and the subsequent production of the novel fusion protein Bcr-Abl, a potent cell proliferation activator found in several types of leukemias.

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Anti-RELA Rabbit Polyclonal Antibody

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May function as a growth factor receptor.

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Binds to and inhibits the transcriptional repressor ZBTB33, which may lead to activation of target genes of the Wnt signaling pathway (By similarity). May associate with and regulate the cell adhesion properties of both C- and E-cadherins. Implicated both in cell transformation by SRC and in ligand-induced receptor signaling through the EGF, PDGF, CSF-1 and ERBB2 receptors. Promotes GLIS2 C-terminal cleavage.

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Contributes to oxidative stress resistance by reducing cysteine-sulfinic acid formed under exposure to oxidants in the peroxiredoxins PRDX1, PRDX2, PRDX3 and PRDX4. Does not act on PRDX5 or PRDX6. May catalyze the reduction in a multi-step process by acting both as a specific phosphotransferase and a thioltransferase.

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NOC2L is a transcriptional corepressor with inhibitor of histone acetyltransferase (INHAT) activity. NOC2L or NIR (Novel INHAT Repressor) is ubiquitously expressed throughout embryonic development and adulthood. It is a potent transcriptional corepressor that is not blocked by histone deacetylase inhibitors and is capable of silencing both basal and activator-driven transcription. NOC2L directly binds to nucleosomes and core histones and prevents acetylation by histone acetyltransferases, thus acting as a bona fide INHAT.