|
ACSL4
Long-chain-fatty-acid—CoA ligase 4 is an enzyme that in humans is encoded by the ''ACSL4'' gene. The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue (biology), tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-Coenzyme A, CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme preferentially utilizes arachidonate as Substrate (biochemistry), substrate. The absence of this enzyme may contribute to the intellectual disability or Alport syndrome. Alternative splicing of this gene generates 2 transcript variants. Structure The ACSL4 gene is located on the X-chromosome, with its specific location being Xq22.3-q23. The gene contains 17 exons. ASCL4 encodes a 74.4 kDa protein, FACL4, which is composed of 670 amino acids; 17 peptides have been observed through ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. Almost all metabolic processes in the cell need enzyme catalysis in order to occur at rates fast enough to sustain life. Metabolic pathways depend upon enzymes to catalyze individual steps. The study of enzymes is called ''enzymology'' and the field of pseudoenzyme analysis recognizes that during evolution, some enzymes have lost the ability to carry out biological catalysis, which is often reflected in their amino acid sequences and unusual 'pseudocatalytic' properties. Enzymes are known to catalyze more than 5,000 biochemical reaction types. Other biocatalysts are catalytic RNA molecules, called ribozymes. Enzymes' specificity comes from their unique three-dimensional structures. Like all catalysts, enzymes increase the reaction ra ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intellectual Disability
Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ under 70, in addition to deficits in two or more adaptive behaviors that affect everyday, general living. Intellectual functions are defined under DSM-V as reasoning, problem‑solving, planning, abstract thinking, judgment, academic learning, and learning from instruction and experience, and practical understanding confirmed by both clinical assessment and standardized tests. Adaptive behavior is defined in terms of conceptual, social, and practical skills involving tasks performed by people in their everyday lives. Intellectual disability is subdivided into syndromic intellectual disability, in which intellectual deficits associated with other medical and be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ubiquitin D
Ubiquitin D is a protein that in humans is encoded by the ''UBD'' gene, also known as FAT10. UBD acts like ubiquitin, by covalently modifying proteins and tagging them for destruction in the proteasome. Interactions UBD has been shown to interact with NUB1 and MAD2L1 Mitotic spindle assembly checkpoint protein MAD2A is a protein that in humans is encoded by the ''MAD2L1'' gene. Function MAD2L1 is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes .... References Further reading * * * * * * * * * * * * * * * Genes on human chromosome 6 {{protein-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ubiquitin C
Polyubiquitin-C is a protein encoded by the ''UBC'' gene in humans. Polyubiquitin-C is one of the sources of ubiquitin, along with UBB, UBA52, and RPS27A. ''UBC'' gene is one of the two stress-regulated polyubiquitin genes (''UBB'' and ''UBC'') in mammals. It plays a key role in maintaining cellular ubiquitin levels under stress conditions. Defects of ''UBC'' gene could lead to mid-gestation embryonic lethality. Structure Gene ''UBC'' gene is located at chromosome 12q24.3, consisting of 2 exons. The promoter of the ''UBC'' gene contains putative heat shock elements ( HSEs), which mediates UBC induction upon stress. ''UBC'' gene differs from ''UBB'' gene in the number of Ub coding units they contain. Nine to ten Ub units were in the ''UBC'' gene. Protein In polyubiquitin-C, the C-terminus of a given ubiquitin molecule is covalently conjugated to either the N-terminal residue or one of seven lysine residues of another ubiquitin molecule. Different linking of ubiquitin chains r ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TUBGCP3
Gamma-tubulin complex component 3 is a protein that in humans is encoded by the ''TUBGCP3'' gene. It is part of the gamma tubulin complex, which required for microtubule nucleation at the centrosome. See also *Tubulin * TUBGCP2 * TUBGCP4 * TUBGCP5 * TUBGCP6 Gamma-tubulin complex component 6 is a protein that in humans is encoded by the ''TUBGCP6'' gene. It is part of the gamma tubulin complex, which required for microtubule nucleation at the centrosome. See also * Tubulin * TUBGCP2 * TUBGCP3 * TUB ... References Further reading * * * * * * {{gene-13-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TP53
p53, also known as Tumor protein P53, cellular tumor antigen p53 (UniProt name), or transformation-related protein 53 (TRP53) is a regulatory protein that is often mutated in human cancers. The p53 proteins (originally thought to be, and often spoken of as, a single protein) are crucial in vertebrates, where they prevent cancer formation. As such, p53 has been described as "the guardian of the genome" because of its role in conserving stability by preventing genome mutation. Hence ''TP53'' ''italics'' are used to denote the ''TP53'' gene name and distinguish it from the protein it encodes is classified as a tumor suppressor gene. The name p53 was given in 1979 describing the apparent molecular mass; SDS-PAGE analysis indicates that it is a 53-kilodalton (kDa) protein. However, the actual mass of the full-length p53 protein (p53α) based on the sum of masses of the amino acid residues is only 43.7 kDa. This difference is due to the high number of proline residues in the protein, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SUMO2
Small ubiquitin-related modifier 2 is a protein that in humans is encoded by the ''SUMO2'' gene. Function This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It is a ubiquitin-like protein and functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin, which is primarily associated with targeting proteins for proteasomal degradation, SUMO2 is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last two amino acids of the carboxy-terminus have been cleaved off. Numerous pseudogenes have been reported for this gene. Alternate transcriptional splice variants encoding different isoforms have been characterized. Interactions SUMO2 has been shown to interact with TRIM63 E3 ubiquitin-protein ligase TRIM63, also known as " ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SPG20
Spartin is a protein that in humans is encoded by the ''SPG20'' gene. This gene encodes a protein that contains a MIT (Microtubule Interacting and Trafficking molecule) domain. This protein may be involved in endosomal trafficking, microtubule dynamics, or both functions. Spartin loss has been associated to mitochondrial dysfunction, impaired complex I activity and altered pyruvate metabolism. Frameshift mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). Troyer syndrome (SPG20) is a complicated type of hereditary spastic paraplegias (HSPs). HSP is a category of neurological disorder characterized by spasticity and muscle weakness in the lower limbs. Background The original description of this gene mutation and associated symptoms were described in 1967. This mutation is commonly found in high frequency with the Amish population. Newer studies have found that the mutation is not isolated to the Amish population, but also resides ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PARK2
Parkin is a 465-amino acid residue E3 ubiquitin ligase, a protein that in humans and mice is encoded by the ''PARK2'' gene. Parkin plays a critical role in ubiquitination – the process whereby molecules are covalently labelled with ubiquitin (Ub) and directed towards degradation in proteasomes or lysosomes. Ubiquitination involves the sequential action of three enzymes. First, an E1 ubiquitin-activating enzyme binds to inactive Ub in eukaryotic cells via a thioester bond and mobilises it in an ATP-dependent process. Ub is then transferred to an E2 ubiquitin-conjugating enzyme before being conjugated to the target protein via an E3 ubiquitin ligase. There exists a multitude of E3 ligases, which differ in structure and substrate specificity to allow selective targeting of proteins to intracellular degradation. In particular, parkin recognises proteins on the outer membrane of mitochondria upon cellular insult and mediates the clearance of damaged mitochondria via autophagy and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ELAVL1
ELAV-like protein 1 or HuR (human antigen R) is a protein that in humans is encoded by the ''ELAVL1'' gene. The protein encoded by this gene is a member of the ELAVL protein family. This encoded protein contains 3 RNA-binding domains and binds cis-acting AU-rich elements. One of its best-known functions is to stabilize mRNAs in order to regulate gene expression. See also *RNA-Binding Protein RNA-binding proteins (often abbreviated as RBPs) are proteins that bind to the double or single stranded RNA in cells and participate in forming ribonucleoprotein complexes. RBPs contain various structural motifs, such as RNA recognition motif ( ... References Further reading * * * * * * * * * * * * * * * * * * External links PDBe-KB provides an overview of all the structure information available in the PDB for Human ELAV-like protein 1 {{Gene-19-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DSE (gene)
Dermatan-sulfate epimerase is an enzyme that in humans is encoded by the ''DSE'' gene. The protein encoded by this gene is an epimerase required for biosynthesis of dermatan sulfate and a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is localized to the endoplasmic reticulum. Two transcript variants encoding the same protein have been found for this gene. Clinical significance * Ehlers-Danlos syndrome Musculocontractural type is associated with mutations in the ''DSE'' gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba .... References Further reading * * * * * * * {{gene-6-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
