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Mitf
Microphthalmia-associated transcription factor also known as class E basic helix-loop-helix protein 32 or bHLHe32 is a protein that in humans is encoded by the ''MITF'' gene. MITF is a basic helix-loop-helix leucine zipper transcription factor involved in lineage-specific pathway regulation of many types of cells including melanocytes, osteoclasts, and mast cells. The term "lineage-specific", since it relates to MITF, means genes or traits that are only found in a certain cell type. Therefore, MITF may be involved in the rewiring of signaling cascades that are specifically required for the survival and physiological function of their normal cell precursors. MITF, together with transcription factor EB ( TFEB), TFE3 and TFEC, belong to a subfamily of related bHLHZip proteins, termed the MiT-TFE family of transcription factors. The factors are able to form stable DNA-binding homo- and heterodimers. The gene that encodes for MITF resides at the ''mi'' locus in mice, and its protum ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TFE3
Transcription factor E3 is a protein that in humans is encoded by the ''TFE3'' gene. Function TFE3, a member of the helix-loop-helix family of transcription factors, binds to the mu-E3 motif of the immunoglobulin heavy-chain enhancer and is expressed in many cell types (Henthorn et al., 1991). upplied by OMIMref name="entrez" /> Interactions TFE3 has been shown to interact with: * E2F3, * Microphthalmia-associated transcription factor, and * Mothers against decapentaplegic homolog 3 Mothers against decapentaplegic homolog 3 also known as SMAD family member 3 or SMAD3 is a protein that in humans is encoded by the SMAD3 gene. SMAD3 is a member of the SMAD family of proteins. It acts as a mediator of the signals initiated by ... Translocations A proportion of renal carcinomas (RCC) that occur in young patients are associated with translocations involving the ''TFE3'' gene at chromosome Xp11.2 '' PRCC'' References Further reading * * * * * * * * * * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GPR143
G-protein coupled receptor 143, also known as Ocular albinism type 1 (OA1) in humans, is a conserved integral membrane protein with seven transmembrane domains and similarities with G protein-coupled receptors (GPCRs) that is expressed in the eye and epidermal melanocytes. This protein encoded by the ''GPR143'' gene, whose variants can lead to Ocular albinism type 1. The GPR143 gene is regulated by the Microphthalmia-associated transcription factor. L-DOPA is an endogenous ligand for OA1. Interactions GPR143 has been shown to interact with GNAI1 Guanine nucleotide-binding protein G(i), alpha-1 subunit is a protein that in humans is encoded by the ''GNAI1'' gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequen .... References Further reading * * * * * * * * * * * * * * * External links GeneReviews/NCBI/NIH/UW entry on Ocular Albinism, X-Linked G protein-couple ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metabolic reactions, DNA replication, Cell signaling, responding to stimuli, providing Cytoskeleton, structure to cells and Fibrous protein, organisms, and Intracellular transport, transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the Nucleic acid sequence, nucleotide sequence of their genes, and which usually results in protein folding into a specific Protein structure, 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called pep ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Xiphophorus
''Xiphophorus'' is a genus of euryhaline and freshwater fishes in the family Poeciliidae of order (biology), order Cyprinodontiformes, native to Mexico and northern Central America. ''Xiphophorus'' species can be divided into three groups based on their evolutionary relationships: platyfish (or platies), northern swordtails, and southern swordtails. Platyfish formerly were classified in another genus, ''Platypoecilus'', which is now obsolete. The type species is ''X. hellerii,'' the green swordtail. Like most other new world Poeciliids, platies and swordtails are Livebearers, live-bearers that use internal fertilization and give birth to live young instead of laying eggs like the bulk of the world's fishes. The name ''Xiphophorus'' derives from the Greek language, Greek words ξίφος (dagger) and φόρος (bearer), referring to the Fish fin#Reproduction, gonopodium on the males. All are relatively small fishes, which reach a maximum length of depending on the exact specie ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Melanocortin 1 Receptor
The melanocortin 1 receptor (MC1R), also known as melanocyte-stimulating hormone receptor (MSHR), melanin-activating peptide receptor, or melanotropin receptor, is a G protein–coupled receptor that binds to a class of pituitary peptide hormones known as the melanocortins, which include adrenocorticotropic hormone (ACTH) and the different forms of melanocyte-stimulating hormone (MSH). It is coupled to Gαs and upregulates levels of cAMP by activating adenylyl cyclase in cells expressing this receptor. It is normally expressed in skin and melanocytes, and to a lesser degree in periaqueductal gray matter, astrocytes and leukocytes. In skin cancer, MC1R is highly expressed in melanomas but not carcinomas. MC1R is one of the key proteins involved in regulating mammalian skin color and hair color. It is located on the plasma membrane of specialized cells known as melanocytes, which produce the pigment melanin through the process of melanogenesis. It controls the type o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GPNMB
Transmembrane glycoprotein NMB is a protein that in humans is encoded by the ''GPNMB'' gene. Two transcript variants encoding 560 and 572 amino acid isoforms have been characterized for this gene in humans. The mouse and rat orthologues of GPNMB are known as DC-HIL and Osteoactivin (OA), respectively. GPNMB is a type I transmembrane glycoprotein which shows homology to the SILV, pmel17 precursor, a melanocyte-specific protein. GPNMB has been reported to be expressed in various cell types, including: melanocytes, osteoclasts, osteoblasts, dendritic cells, and it is overexpressed in various cancer types. In Melanocyte, melanocytic cells and osteoclasts the GPNMB gene is transcriptionally regulated by microphthalmia-associated transcription factor. Function In osteoblast progenitor cells, Osteoactivin works as a positive regulator of osteoblast differentiation during later stages of matrix maturation and mineralization that is mediated at least in part by bone morphogenetic protei ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Endothelin Receptor Type B
Endothelin receptor type B, (ET-B) is a protein that in humans is encoded by the ''EDNRB'' gene. Function Endothelin receptor type B is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. A splice variant, named SVR, has been described; the sequence of the ETB-SVR receptor is identical to ETRB except for the intracellular C-terminal domain. While both splice variants bind ET1, they exhibit different responses upon binding which suggests that they may be functionally distinct. Regulation In melanocytic cells the EDNRB gene is regulated by the microphthalmia-associated transcription factor. Mutations in either gene are links to Waardenburg syndrome. Clinical significance The multigenic disorder, Hirschsprung disease type 2, is due to mutation in endothelin receptor type B gene. Animals In horses, a mutation in the mi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dopachrome Tautomerase
Dopachrome tautomerase (dopachrome delta-isomerase, tyrosinase-related protein 2), also known as DCT, is a human gene. Its expression is regulated by the microphthalmia-associated transcription factor (MITF). See also * Tyrosinase-related protein 1 (TYRP1) * Dopachrome, a cyclization product of L-DOPA and is an intermediate in the biosynthesis of melanin Melanin (; ) is a family of biomolecules organized as oligomers or polymers, which among other functions provide the pigments of many organisms. Melanin pigments are produced in a specialized group of cells known as melanocytes. There are .... References Further reading * * * * * * * * * * * * * * * * * * * * {{gene-13-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CLCN7
Chloride channel 7 alpha subunit also known as H+/Cl− exchange transporter 7 is a protein that in humans is encoded by the CLCN7 gene. In melanocytic cells this gene is regulated by the Microphthalmia-associated transcription factor. Clinical significance Mutations in the CLCN7 gene have been reported to be associated with autosomal dominant osteopetrosis type II, a rare disease of bones. See also * Chloride channel Chloride channels are a superfamily of poorly understood ion channels specific for chloride. These channels may conduct many different ions, but are named for chloride because its concentration ''in vivo'' is much higher than other anions. Several ... References Further reading * * * * * * * * * * * * * * * * * * * * External links GeneReviews/NCBI/NIH/UW entry on CLCN7-Related Osteopetrosis* * {{Ion channels, g4 Ion channels ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cyclin-dependent Kinase 2
Cyclin-dependent kinase 2, also known as cell division protein kinase 2, or Cdk2, is an enzyme that in humans is encoded by the ''CDK2'' gene. The protein encoded by this gene is a member of the cyclin-dependent kinase family of Ser/Thr protein kinases. This protein kinase is highly similar to the gene products of '' S. cerevisiae'' cdc28, and '' S. pombe'' cdc2, also known as Cdk1 in humans. It is a catalytic subunit of the cyclin-dependent kinase complex, whose activity is restricted to the G1-S phase of the cell cycle, where cells make proteins necessary for mitosis and replicate their DNA. This protein associates with and is regulated by the regulatory subunits of the complex including cyclin E or A. Cyclin E binds G1 phase Cdk2, which is required for the transition from G1 to S phase while binding with Cyclin A is required to progress through the S phase. Its activity is also regulated by phosphorylation. Multiple alternatively spliced variants and multiple transcription ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BIRC7
Baculoviral IAP repeat-containing protein 7 is a protein that in humans is encoded by the ''BIRC7'' gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei .... The protein encoded by this gene is a member of the family of inhibitor of apoptosis proteins (IAP) and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Two transcript variants encoding different isoforms have been found for this gene. The two isoforms have different antiapoptotic properties, with isoform alpha protecting cells from apoptosis induced by staurosporine and isoform b protecting ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BEST1
Bestrophin-1 (Best1) is a protein that, in humans, is encoded by the ''BEST1'' gene (RPD ID - 5T5N/4RDQ). The bestrophin family of proteins comprises four evolutionary related genes (BEST1, BEST2, BEST3, and BEST4) that code for integral membrane proteins. This family was first identified in humans by linking a BEST1 mutation with Best vitelliform macular dystrophy (BVMD). Mutations in the BEST1 gene have been identified as the primary cause for at least five different degenerative retinal diseases. The bestrophins are an ancient family of structurally conserved proteins that have been identified in nearly every organism studied from bacteria to humans. In humans, they function as calcium-activated anion channels, each of which has a unique tissue distribution throughout the body. Specifically, the BEST1 gene on chromosome 11q13 encodes the Bestrophin-1 protein in humans whose expression is highest in the retina. Structure Gene The bestrophin genes share a conserved ge ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
