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AP4B1
AP-4 complex subunit beta-1 is a protein that in humans is encoded by the ''AP4B1'' gene. Function The heterotetrameric adaptor protein (AP) complexes sort integral membrane proteins at various stages of the endocytic and secretory pathways. AP4 is composed of 2 large chains, beta-4 (AP4B1, this protein) and epsilon-4 ( AP4E1), a medium chain, mu-4 ( AP4M1), and a small chain, sigma-4 ( AP4S1) Interactions AP4B1 has been shown to interact Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization advocating for the legal and human rights of children with intersex traits. The organization was founded in 2006 and fo ... with AP4M1. Clinical relevance AP4-complex-mediated trafficking plays a crucial role in brain development and functioning. References External links * PDBe-KBprovides an overview of all the structure information available in the PDB for Human AP-4 complex subunit beta-1 Further re ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
AP4E1
AP-4 complex subunit epsilon-1 is a protein that in humans is encoded by the ''AP4E1'' gene. Function The heterotetrameric adaptor protein (AP) complexes sort integral membrane proteins at various stages of the endocytic and secretory pathways. AP4 is composed of 2 large chains, beta-4 (AP4B1 AP-4 complex subunit beta-1 is a protein that in humans is encoded by the ''AP4B1'' gene. Function The heterotetrameric adaptor protein (AP) complexes sort integral membrane proteins at various stages of the endocytic and secretory pathways. A ...) and epsilon-4 (AP4E1; this gene), a medium chain, mu-4 ( AP4M1), and a small chain, sigma-4 ( AP4S1). Clinical relevance It is currently hypothesized that AP4-complex-mediated trafficking plays a crucial role in brain development and functioning. References External links * Further reading * * * * {{gene-15-stub Genes mutated in mice ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
AP4M1
AP-4 complex subunit mu-1 is a protein that in humans is encoded by the ''AP4M1'' gene. Function This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. Interactions AP4M1 has been shown to interact with AP4B1. Clinical relevance The AP4-complex-mediated trafficking plays a crucial role in brain development and functioning. Mutations of the gene cause spastic paraplegia 50, one of the many subtypes of spastic paraplegia Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive Gait abnormality, gait disorder. The disease presents with progressive stiffness (spasticity) and contraction in the lower limbs. HSP is als .... References External links * * Further read ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
AP4S1
AP-4 complex subunit sigma-1 is a protein that in humans is encoded by the ''AP4S1'' gene. Function The heterotetrameric adaptor protein (AP) complexes sort integral membrane proteins at various stages of the endocytic and secretory pathways. AP4 is composed of 2 large chains, beta-4 (AP4B1) and epsilon-4 (AP4E1), a medium chain, mu-4 (AP4M1), and a small chain, sigma-4 (AP4S1, this gene). Clinical relevance Deficiency of AP-4 leads to childhood-onset hereditary spastic paraplegia and it is currently hypothesized that AP4-complex-mediated trafficking plays a crucial role in brain development and functioning. See also * AP2 adaptor complex The AP2 adaptor complex is a multimeric protein that works on the cell membrane to internalize cargo in clathrin-mediated endocytosis. It is a stable complex of four adaptins which give rise to a structure that has a core domain and two appendage d ... References External links * Further reading * * {{refend Proteins ... [...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] |
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: protein-coding genes and non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
