This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms.
SF3B3 is one of four proteins for SF3B, which is involved in RNA splicing. Introns are removed from nuclear pre-mRNA in 2-step transesterification reactions. Splicing occurred in a large ribonucleoprotein particle, called the spliceosome. Spliceosomal intermediate complexes form on pre-mRNA in the order E, A, B, and C, with the catalytic reactions occurring in complex C. U2 small nuclear ribonucleoproteins are one of the proteins essential for spliceosome assembly and mRNA splicing. Functional U2 snRNP is composed of a 12S unit and 2 splicing factors, SF3A, which is composed of 3 proteins, and SF3B, which composed of 4 proteins. SF3B3 is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence(BPS) in pre-mRNA.
Human SP-A is expressed in alveolar epithelial type II cells and in tracheal and bronchial submucosal gland cells in lung as well as in other tissues. SFTPA1(SP-A1) and SFTPA2(SP-A2) are expressed in the type II cells; SP-A2 is expressed in human tracheal and bronchial submucosal gland cells. The presence of SP-A in non-ciliated bronchiolar epithelial cells has been inconsistent for human lungs, but consistent positive staining of SP-A has been observed in the non-ciliated bronchiolar epithelial cells in rodents.
Surfactant pulmonary-associated protein D, also known as SFTPD and SP-D, is a member of the collectin family of C-type lectins that is synthesized in many tissues including respiratory epithelial cells in the lung, and contains one C-type lectin domain and one collagen-like domain. The polymorphic variation in the N-terminal domain of the SP-D molecule influences oligomerization, function, and the concentration of the molecule in serum. SFTPD is produced primarily by alveolar type II cells and nonciliated bronchiolar cells in the lung and is constitutively secreted into the alveoli where it influences surfactant homeostasis, effector cell functions, and host defense. It is upregulated in a variety of inflammatory and infectious conditions including Pneumocystis pneumonia and asthma. SFTPD is humoral molecules of the innate immune system, and is considered a functional candidate in chronic periodontitis. Besides, it is involved in the development of acute and chronic inflammation of the lung. Several human lung diseases are characterized by decreased levels of bronchoalveolar SFTPD. Thus, recombinant SFTPD has been proposed as a therapeutical option for cystic fibrosis, neonatal lung disease and smoking-induced emphysema. Furthermore, SFTPD serum levels can be used as disease activity markers for interstitial lung diseases.
Serum and glucocorticoid-inducible kinase (SGK) is a serine/threonine kinase closely related to Akt. SGK is rapidly induced in response to a variety of stimuli, including serum, glucocorticoid, follicle stimulating hormone, osmotic shock, and mineralocorticoids. SGK activation can be accomplished via HGF PI3K-dependent pathways and by integrin-mediated PI3K-independent pathways. Induction and activation of SGK has been implicated in activating the modulation of anti-apoptotic and cell cycle regulation. SGK also plays an important role in activating certain potassium, sodium, and chloride channels, suggesting its involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. SGK is negatively regulated by ubiquitination and proteasome degradation.In addition to its membrane channel and carrier functions, SGK1 also regulates a broad range of targets, such as GSK-3, NEDD4, iNOS, AMPAR, PSD95, Tau, NF-κB, CREB, and FKHR-L1.
This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined.
Prolactin (PRL) is a secreted neuroendocrine pituitary hormone that acts primarily on the mammary gland to promote lactation, but has pleiotropic effects in both males and females. Non-glycosylated prolactin is produced by the pituitary and packaged in storage granules before secretion, while glycosylated prolactin is reported to be constitutively secreted, have lower biological potency, and be removed from the circulation more quickly. Prolactin is synthesized mainly by the anterior pituitary in all mammals, where secretion is under tonic inhibition by hypothalamic dopamine. In humans, prolactin is also produced peripherally. Prolactin expression is low during early human pregnancy, but increases in late pregnancy. The prolactin receptor (PRLR) is a transmembrane type I glycoprotein that belongs to the cytokine hematopoietic receptor family. prolactin molecule is thought to bind two receptor molecules. In addition to its lactogenic activity, peripherally produced prolactin plays roles in breast and prostate cancer development, regulation of reproductive function, and immunoregulation.
Inserisci la tua e-mail e seleziona le aree di interesse per ricevere le ultime novità, approfondimenti e promozioni.
Seleziona uno o più ambiti di interesse per ricevere comunicazioni più utili e mirate.
2025 TEMA Ricerca - All Rights Reserved.
