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This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins

FGFR1 Oncogene Partner is required for anchoring microtubules to the centrosomes. Ubiquitous; highly expressed in heart, liver, muscle, kidney, intestine, colon, adrenal gland, prostate, testis, and pancreas. A chromosomal aberration involving FGFR1OP may be a cause of stem cell myeloproliferative disorder (MPD). There are three named isoforms.

The G protein family of signal transducers includes 5 heterotrimers, which are most clearly distinguished by their different alpha chains; they have virtually identical beta chains and similar gamma chains. G protein alpha inhibitor chains 1 and 2 are subunits of the G(i) G protein, whose role is in inhibiting adenylate cyclase activity in response to bound GTP.

Inhibits TP53/p53- and TP73/p73-mediated cell cyclearrest and apoptosis by binding its transcriptional activation domain. Functions as a ubiquitin ligase E3, in the presence of E1 and E2, toward p53 and itself. Permits the nuclear export of p53 and targets it for proteasome-mediated proteolysis. Binds p53, p73, ARF(P14), ribosomal protein L5 and specifically to RNA. Can interact also with retinoblastoma protein(RB), E1A-associated protein EP300 and the E2F1 transcription factor. Forms a