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GIPC1
GIPC PDZ domain containing family, member 1 (GIPC1) is a protein that in humans is encoded by the ''GIPC1'' gene. GIPC was originally identified as it binds specifically to the C terminus of RGS-GAIP, a protein involved in the regulation of G protein signaling. GIPC is an acronym for "GAIP Interacting Protein C-terminus". RGS proteins are "Regulators of G protein Signaling" and RGS-GAIP is a "GTPase Activator protein for Gαi/Gαq", which are two major subtypes of Gα proteins. The human GIPC1 molecule is 333 amino acids or about 36 kDa in molecular size and consists of a central PDZ domain, a compact protein module which mediates specific protein-protein interactions. The RGS-GAIP protein interacts with this domain and many other proteins interact here or at other parts of the GIPC1 molecule. As a result, GIPC1 was independently discovered by several other groups and has a variety of alternate names, including synectin, C19orf3, RGS19IP1 and others. The GIPC1 gene family in m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GIPC2
GIPC PDZ domain containing family, member 2 (GIPC2) is a protein that, in humans, is encoded by the ''GIPC2'' gene. See also GIPC PDZ domain containing family, member 2, GIPC1 GIPC PDZ domain containing family, member 3, GIPC3 PDZ domain-containing protein GIPC3 is a protein that in humans is encoded by the ''GIPC3'' gene. GIPC3 is a member of the GIPC (GAIP-interacting protein C terminus) gene family that also includes GIPC1 and GIPC2. The encoded protein, GIPC3, feat ... References Further reading * * * * * * * {{gene-1-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RGS19
Regulator of G-protein signaling 19 is a protein that in humans is encoded by the ''RGS19'' gene. G proteins mediate a number of cellular processes. The protein encoded by this gene belongs to the RGS (regulators of G-protein signaling) family and specifically interacts with G protein, GAI3. This protein is a guanosine triphosphatase-activating protein that functions to down-regulate Galpha i/Galpha q-linked signaling. Interactions RGS19 has been shown to interact with GNAO1, GIPC1, OSTM1, GNAI1, GNAI3 and GNAZ Guanine nucleotide-binding protein G(z) subunit alpha is a protein that in humans is encoded by the ''GNAZ'' gene. Function The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis to .... References Further reading * * * * * * * * * * * * * * * * * * * * * * External links * * {{PDB Gallery, geneid=10287 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MYO6
Unconventional myosin-VI, is a protein that in humans is coded for by ''MYO6''. Unconventional myosin-VI is a myosin molecular motor involved in intracellular vesicle and organelle transport. Structure Human myosin-VI contains a N-terminal myosin head domain (residues 59–759), two coiled coil motifs (residues 902–984 and 986–1009 respectively), and a C-terminal myosin VI cargo binding domain (residues 1177–1267). Function Unconventional myosin-VI is unique because it travels in the opposite direction of other myosins, towards the negative end of actin filaments. Myosin-VI follows the same structure as other myosin but with two unique "inserts" allowing for its diversified properties. One insert is called the "reverse gear" and is responsible for its movement towards the negative end of actin filaments. The reverse gear is located on the neck region of the myosin and acts as a reorienting device for the lever arm to move backwards after myosin movement. The second inse ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KIF1B
Kinesin-like protein KIF1B is a protein that in humans is encoded by the ''KIF1B'' gene. Clinical significance It is associated with Charcot–Marie–Tooth disease, type 2A1. Interactions KIF1B has been shown to interact with GIPC1 GIPC PDZ domain containing family, member 1 (GIPC1) is a protein that in humans is encoded by the ''GIPC1'' gene. GIPC was originally identified as it binds specifically to the C terminus of RGS-GAIP, a protein involved in the regulation of G prot .... References Further reading * * * * * * * * * * * * * * * * * * External links GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 2 {{gene-1-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TYRP1
Tyrosinase-related protein 1, also known as TYRP1, is an intermembrane enzyme which in humans is encoded by the ''TYRP1'' gene. Function Tyrp1 is a melanocyte-specific gene product involved in melanin synthesis within melanosomes. Most Tyrp1 possess 5,6-dihydroxyindole-2-carboxylic acid (melanogenic intermediate) oxidase activity. The catalytic function of Tyrp1 in human melanocytes is less clear. Tyrp1 is involved in stabilizing of tyrosinase protein and modulating its catalytic activity. Tyrp1 is also involved in maintenance of melanosome structure and affects melanocyte proliferation and melanocyte cell death. Melanocytes are derived from the neural crest and migrate into the overlying epidermal ectoderm of a developing organism which forms skin and hair. Therefore, Tyrp1 influences the expression of melanin notably in the skin and hair of an organism. The Tyrp1 gene also has a non-coding function which indirectly promotes melanoma tumor cell proliferation, especially whe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TPBG
Trophoblast glycoprotein, also known as TPBG, 5T4, Wnt-Activated Inhibitory Factor 1 or WAIF1, is a human protein encoded by a ''TPBG'' gene. TPBG is an antagonist of Wnt/β-catenin signalling pathway. Clinical significance 5T4 is an antigen expressed in a number of carcinomas. It is an N-glycosylated transmembrane 72 kDa glycoprotein containing eight leucine-rich repeats. 5T4 is often referred to as an ''oncofetal antigen'' due to its expression in foetal trophoblast (where it was first discovered) or trophoblast glycoprotein (TPBG). 5T4 is found in tumors including the colorectal, ovarian, and gastric. Its expression is used as a prognostic aid in these cases. It has very limited expression in normal tissue but is widespread in malignant tumours throughout their development. One study found that 5T4 was present in 85% of a cohort of 72 colorectal carcinomas and in 81% of a cohort of 27 gastric carcinomas. Its confined expression appears to give 5T4 the potential to be a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Luteinizing Hormone/choriogonadotropin Receptor
The luteinizing hormone/choriogonadotropin receptor (LHCGR), also lutropin/choriogonadotropin receptor (LCGR) or luteinizing hormone receptor (LHR) is a transmembrane receptor found predominantly in the ovary and testis, but also many extragonadal organs such as the uterus and breasts. The receptor interacts with both luteinizing hormone (LH) and chorionic gonadotropins (such as hCG in humans) and represents a G protein-coupled receptor (GPCR). Its activation is necessary for the hormonal functioning during reproduction. LHCGR gene The gene for the LHCGR is found on chromosome 2 p21 in humans, close to the FSH receptor gene. It consists of 70 kbp (versus 54 kpb for the FSHR). The gene is similar to the gene for the FSH receptor and the TSH receptor. Receptor structure The LHCGR consists of 674 amino acids and has a molecular mass of about 85–95 kDA based on the extent of glycosylation. Like other GPCRs, the LHCG receptor possess seven membrane-spanning domains or tran ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
LRP2
Low density lipoprotein receptor-related protein 2 also known as LRP-2 or megalin is a protein which in humans is encoded by the ''LRP2'' gene. Function LRP2 was identified as the antigen of rat experimental membranous nephropathy (Heyman nephritis) and originally named gp330 and subsequently megalin and later LRP2. LRP2/megalin is a multiligand binding receptor found in the plasma membrane of many absorptive epithelial cells. LRP2/megalin is a member of a family of receptors with structural similarities to the low density lipoprotein receptor ( LDLR). LRP2/megalin functions to mediate endocytosis of ligands leading to degradation in lysosomes or transcytosis. LRP2/megalin can also form complexes with cubilin: those complexes are able to reabsorb several molecules and can be inhibited by sodium maleate. LRP2 is expressed in epithelial cells of the thyroid (thyrocytes), where it can serve as a receptor for the protein thyroglobulin (Tg). Clinical significance Mutations i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
LRP1
Low density lipoprotein receptor-related protein 1 (LRP1), also known as alpha-2-macroglobulin receptor (A2MR), apolipoprotein E receptor (APOER) or cluster of differentiation 91 (CD91), is a protein forming a receptor found in the plasma membrane of cells involved in receptor-mediated endocytosis. In humans, the LRP1 protein is encoded by the ''LRP1'' gene. LRP1 is also a key signalling protein and, thus, involved in various biological processes, such as lipoprotein metabolism and cell motility, and diseases, such as neurodegenerative diseases, atherosclerosis, and cancer. Structure The ''LRP1'' gene encodes a 600 kDa precursor protein that is processed by furin in the trans- Golgi complex, resulting in a 515 kDa alpha-chain and an 85 kDa beta-chain associated noncovalently. As a member of the LDLR family, LRP1 contains cysteine-rich complement-type repeats, EGF (gene) repeats, β-propeller domains, a transmembrane domain, and a cytoplasmic domain. The extracellular domai ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ITGA6
Integrin alpha-6 is a protein that in humans is encoded by the ''ITGA6'' gene. Function The ITGA6 protein product is the integrin alpha chain alpha 6. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. For example, alpha 6 may combine with beta 4 in the integrin referred to as TSP180, or with beta 1 in the integrin VLA-6. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. Two transcript variants encoding different isoforms have been found for this gene. Specific loss of this integrin chain in the intestinal epithelium, and thus of their hemidesmosomes, induces long-standing colitis and infiltrating adenocarcinomas. Interactions ITGA6 has been shown to interact with TSPAN4 and GIPC1. See also * Cluster of differentiation * Integrin Integrins are transmembrane receptors that facilitate cell-cell and cell- ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ITGA5
Integrin alpha-5 is a protein that in humans is encoded by the ''ITGA5'' gene. The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes the integrin alpha 5 chain. Alpha chain 5 undergoes post-translational cleavage in the extracellular domain to yield disulfide-linked light and heavy chains that join with beta 1 to form a fibronectin receptor. In addition to adhesion, integrins are known to participate in cell-surface mediated signalling. Interactions ITGA5 has been shown to interact with GIPC1. See also * Cluster of differentiation * Integrin Integrins are transmembrane receptors that facilitate cell-cell and cell-extracellular matrix (ECM) adhesion. Upon ligand binding, integrins activate signal transduction pathways that mediate cellular signals such as regulation of the cell cycle ... References Further reading * * * * External links * IT ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GLUT1
Glucose transporter 1 (or GLUT1), also known as solute carrier family 2, facilitated glucose transporter member 1 (SLC2A1), is a uniporter protein that in humans is encoded by the ''SLC2A1'' gene. GLUT1 facilitates the transport of glucose across the plasma membranes of mammalian cells. This gene encodes a major glucose transporter in the mammalian blood–brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. One good source of GLUT1 is erythrocyte membranes. GLUT1 accounts for 2 percent of the protein in the plasma membrane of erythrocytes. GLUT1, found in the plasma membrane of erythrocytes, is a classic example of a uniporter. After glucose is transported into the erythrocyte, it is rapidly phosphorylated, forming glucose-6-phosphate, which cannot leave the cell. Mutations in this gene can cause GLUT1 deficiency syndrome 1, GLUT1 deficienc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
