Hepatocyte nuclear factor 1-beta (HNF-1B) is a transcription factor which binds to specific regions of nucleic acid. HNF-1B, which plays critical roles in the regulation of glucose transport and metabolism, glucose-stimulated insulin secretion, and also in the embryonic development and later function of the pancreas, kidneys, genitourinary tract, liver, and the biliary tree.
This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver.
The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms.
In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This gene encodes the first enzyme which is found in the cytosol and uses S-adenosyl-L-methionine as the methyl donor. In the mammalian brain, the neurotransmitter activity of histamine is controlled by N(tau)-methylation as diamine oxidase is not found in the central nervous system. A common genetic polymorphism affects the activity levels of this gene product in red blood cells. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene.
HMOX1(heme oxygenase 1) Homo sapiens Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family.
Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. May also couple GRM1 to PI3 kinase through its interaction with AGAP2. Isoform 1 regulates the trafficking and surface expression of GRM5. Differentially regulates the functions of the calcium activated channel ryanodine receptors RYR1 and RYR2. Isoform 1 decreases the activity of RYR2, and increases the activity of RYR1, whereas isoform 5 counteracts the effects by competing for binding sites. Isoform 3 regulates the trafficking and surface expression of GRM5. Isoform 5 acts as a natural dominant negative, in dynamic competition with constitutively expressed isoform 1, isoform 2 and isoform 3 to regulate synaptic metabotropic glutamate function. Isoform 5, may be involved in the structural changes that occur at synapses during long-lasting neuronal plasticity and development.
HOXB13 is a member of the HOXB cluster which, along with the HOXA, HOXC, and HOXD clusters, governs embryonic patterning along the cranio-caudal axis. HOXB13 plays a key role in the development of the ventral prostate, where it is expressed highly from the embryonic stage through adulthood. Research studies have shown that both overexpression and RNA interference can inhibit the growth of prostate cancer cells. HOXB13 can function as a tumor suppressor by negatively regulating growth through repression of TCF4 and androgen receptor (AR) signaling. However, HOXB13 has also been shown to be overexpressed in more invasive prostate cancers, breast and ovarian cancers, and hepatocellular carcinomas. A common germline mutation G84E in the HOXB13 protein has recently been found to be associated with significant increased risk of prostate cancer. Currently, HOXB13 is being evaluated as a marker for metastatic lesions of prostate origin.
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