Nicotinamide phosphoribosyltransferase(NAMPT) has two usual synonyms termed Visfatin and PBEF. Its primary role is to catalyze the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide,an intermediate in the biosynthesis of NAD,which is the rate limiting component in the mammalian NAD biosynthesis pathway. NAMPT is localized in cytoplasm and expressed in large amounts in bone marrow,liver tissue,and muscle tissues. NAMPT inhibits neutrophil apoptosis in experimental inflammation and clinical sepsis. NAMPT levels are altered in plasma of patients with type 2 diabetes mellitus (T2DM),and it is now evidenced that NAMPT may plays a role in lipid metabolism.
The protein encoded by this gene is a DNA binding homeobox transcription factor involved in embryonic stem (ES) cell proliferation, renewal, and pluripotency. The encoded protein can block ES cell differentiation and can also autorepress its own expression in differentiating cells. Two transcript variants encoding different isoforms have been found for this gene.
NAP1L1 (Nucleosome assembly protein 1-like 1; NAP1-Related Protein, NRP) is a member of the NAP family of histone chaperones. Histone chaperones are involved in chromatin assembly following DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation.
May be involved in actively transporting phosphate into cells via Na+ cotransport. It may be the main phosphate transport protein in the intestinal brush border membrane. May have a role in the synthesis of surfactant in lungs' alveoli.
Napsin A (aspartic protease A) belongs to the class of endopeptidases, which is mainly expressed in adult lungs (type II lung cells), kidneys and fetal lungs, and is low in adult spleen and peripheral blood leukocytes. Napsin A may be involved in the processing of lung cell surfactant precursors. Napsin A is expressed in more than 90% of primary lung adenocarcinoma, but not in other malignant tumors, so it can be used as a potential marker for primary lung adenocarcinoma.
NAT-10 (N-acetyltransferase 10) is a nuclear protein that belongs to the UPF0202 family. It has a single N-acetyltransferase domain that likely functions as a histone acetyltransferase. NAT10 functions primarily to regulate the activity of telomerase. It is upregulated in response to DNA damage and is likely to take part in genotoxic resistance and DNA repair. NAT-10 has a high binding potential for the promoter region of TERT which stimulates the production of telomerase. These varieties of function imply that human telomerase complexes have multiple functions rather than specific duties.
The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome.
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