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PITRM1
Pitrilysin metallopeptidase 1 also known as presequence protease, mitochondrial (PreP) and metalloprotease 1 (MTP-1) is an enzyme that in humans is encoded by the ''PITRM1'' gene. It is also sometimes called metalloprotease 1 (MP1).PreP facilitates proteostasis by utilizing an ~13300-A(3) catalytic chamber to degrade toxic peptides, including mitochondrial presequences and β-amyloid. Deficiency of PreP is found associated with Alzheimer’s disease. Reduced levels of PreP via RNAi mediated knockdown have been shown to lead to defective maturation of the protein Frataxin. Structure Gene The ''PITRM1'' gene is located at chromosome 10q15.2, consisting of 28 exons. Protein PreP is a 117 kDa M16C enzyme that is widely expressed in human tissues. PreP is composed of PreP-N (aa 33-509) and PreP-C (aa 576-1037) Protein domain, domains, which are connected by an extended helical Beta hairpin, hairpin (aa 510-575). Its structure demonstrates that substrate selection by size-exclusion i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 10
Chromosome 10 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 10 spans about 133 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cell (biology), cells. Genes Number of genes The following are some of the gene count estimates of human chromosome 10. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (Consensus CDS Project, CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 10. For complete list, see the link in the infobox on the right. Diseases and disorders The following dise ... [...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] |
Friedreich's Ataxia
Friedreich's ataxia (FRDA or FA) is an autosomal-recessive genetic disease that causes difficulty walking, a loss of sensation in the arms and legs, and impaired speech that worsens over time. Symptoms generally start between 5 and 20 years of age. Many develop hypertrophic cardiomyopathy and require a mobility aid such as a cane, walker, or wheelchair in their teens. As the disease progresses, some affected people lose their sight and hearing. Other complications may include scoliosis and diabetes mellitus. The condition is caused by mutations in the ''FXN'' gene on chromosome 9, which makes a protein called frataxin. In FRDA, cells produce less frataxin. Degeneration of nerve tissue in the spinal cord causes the ataxia; particularly affected are the sensory neurons essential for directing muscle movement of the arms and legs through connections with the cerebellum. The spinal cord becomes thinner, and nerve cells lose some myelin sheath. No effective treatment is kn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SUCLG2
Succinyl-CoA ligase DP-formingsubunit beta, mitochondrial is an enzyme that in humans is encoded by the ''SUCLG2'' gene on chromosome 3. This gene encodes a GTP-specific beta subunit of succinyl-CoA synthetase. Succinyl-CoA synthetase catalyzes the reversible reaction involving the formation of succinyl-CoA and succinate. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 5 and 12. rovided by RefSeq, Apr 2010ref name="entrez"/> Structure SCS, also known as succinyl CoA ligase (SUCL), is a heterodimer composed of a catalytic α subunit encoded by the '' SUCLG1'' gene and a β subunit encoded by either the '' SUCLA2'' gene or the ''SUCLG2'' gene, which determines the enzyme specificity for either ADP or GDP. SUCLG2 is the SCS variant containing the ''SUCLG2''-encoded β subunit. Amino acid sequence alignment of the two β subunit types reveals a homology of ~50% identity, with specific regions conserved throughout the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RIF1
Telomere-associated protein RIF1 is a protein that in humans is encoded by the ''RIF1'' 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 .... RIF1 and RIF2 cap the chromosome ends (telomeres) in yeast. In higher eukaryotes, Rif1 is involved in DNA damage response, organisation of chromatin architecture and the regulation of replication timing. RIF1 has been shown to bind to RNA in the nucleus. References Further reading * * * * * * Telomere-binding proteins {{gene-2-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RARS2
RARS is an acronym for Robot Auto Racing Simulator. It is an open source 3D racing simulator. RARS is designed to enabled pre-programmed AI drivers to race against one another. RARS was used as the base for TORCS. It was used as an example in the book ''Intelligent Information Processing and Web Mining'' by Mieczysław Kłopotek. It was a monthly on-going challenge for practitioners of Artificial Intelligence and real-time adaptive optimal control. It consists of * a simulation of the physics of cars racing on a track, * a graphic display of the race, * and a separate control program (robot "driver") for each car. Each participant could submit a robot (a file written in C++) which controlled the car and competed to win the race. * The input was the road and cars in front of it. * The output was the driver wheel and driver accelerator position. RARS was downloaded from its main repository on SourceForge.net between 2000 and May 2017 almost 100,000 times. [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PRKCSH
Glucosidase 2 subunit beta is an enzyme that in humans is encoded by the ''PRKCSH'' gene. This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER). This protein is an acidic phospho-protein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease Polycystic liver disease (PLD) usually describes the presence of multiple cysts scattered throughout normal liver tissue. PLD is commonly seen in association with autosomal-dominant polycystic kidney disease, with a prevalence of 1 in 400 to 1000, ... (PCLD). Alternatively spliced transcript variants encoding distinct isoforms have been observed. References Further reading * * * * * * * * * * * * * * * * * * * EF-hand-containing proteins {{gene-19-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PRDX6
Peroxiredoxin-6 is a protein that in humans is encoded by the ''PRDX6'' gene. It is a member of the peroxiredoxin family of antioxidant enzymes. Function The protein encoded by this gene is a member of the thiol-specific antioxidant protein family. This protein is a bifunctional enzyme with two distinct active sites. It is involved in redox regulation of the cell; it can reduce H(2)O(2) and short chain organic, fatty acid, and phospholipid hydroperoxides. It may play a role in the regulation of phospholipid turnover as well as in protection against oxidative injury. Model organisms = Model organisms have been used in the study of PRDX6 function. A conditional knockout mouse line, called ''Prdx6tm1a(EUCOMM)Wtsi'' was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute. Male and female animals ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NDUFV2
NADH dehydrogenase biquinoneflavoprotein 2, mitochondrial (NDUFV2) is an enzyme that in humans is encoded by the ''NDUFV2'' gene. The encoded protein, NDUFV2, is a subunit of complex I of the mitochondrial respiratory chain, which is located on the inner mitochondrial membrane and involved in oxidative phosphorylation. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. Structure ''NDUFV2'' is located on the p arm of chromosome 18 in position 11.22 and has 9 exons. The ''NDUFV2'' gene produces a 27.4 kDa protein composed of 249 amino acids. NDUFV2, the protein encoded by this gene, is a member of the complex I 24 kDa subunit family. It contains a cofactor binding site for a 2Fe-2S cluster and a transit peptide domain. The protein consists of 2 turns, 3 beta strands, and 7 alpha helixes. A non-transcribed pseudogene of this locus is found on c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MRPL12
39S ribosomal protein L12, mitochondrial is a protein that in humans is encoded by the ''MRPL12'' gene. Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA The 5S ribosomal RNA (5S rRNA) is an approximately 120 nucleotide-long ribosomal RNA molecule with a mass of 40 kDa. It is a structural and functional component of the large subunit of the ribosome in all domains of life (bacteria, archaea, and e .... Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by seque ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DEFB104A
Beta-defensin 104 is a protein that in humans is encoded by the ''DEFB104A'' gene. Function Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104A, represents the more centromeric The centromere links a pair of sister chromatids together during cell division. This constricted region of chromosome connects the sister chromatids, creating a short arm (p) and a long arm (q) on the chromatids. During mitosis, spindle fibers ... copy. References Further reading * * * * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
