Members of the Rab protein family are small GTPases of the Ras superfamily that are thought to ensure fidelity in the process of docking and/or fusion of vesicles with their correct acceptor compartment (Han et al., 1996 [PubMed 8646882]).[supplied by OMIM, Nov 2010]
The protein encoded by the HNF4 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. At
The protein encoded by the HNF4 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. At
Nucleotides are emerging as important extracellular signaling molecules that mediate several effects, such as proliferation, differentiation , chemotaxis and cytokine release. The P2 receptor family is activated by the binding of nucleotides and is divided into two subfamilies, P2X and P2Y. The P2X receptor family is comprised of ligand-gated ion channels that allow for the increased permeability of calcium into the cell in response to extracellular ATP. The P2Y receptor family are G protein
The NGG1 interacting factor 3-like 1 (NIF3L1) is a 377 amino acid protein expressed mainly in the cytoplasm of cells in several different tissues. It has been highly conserved throughout evolution, from bacteria to mammals. NIF3L participates in retinoic acid-primed neural differentiation of P19 embryonic carcinoma cells by cooperating with Trip15/CSN2, a transcriptional corepressor/component of COP9 signalosome. NIF3L1 interacts with itself and with the NIF3L1 binding protein 1 (NIF3L1 BP1),
Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1A-adrenergic receptor. Alternative splicing of this gene generates four transcript variants, which encod