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Pitrilysin Metallopeptidase 1
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) domains, which are connected by an extended helical hairpin (aa 510-575). Its structure demonstrates that substrate selection by size-exclusion is a conserved mechanism in M16 ...
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Enzyme
An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different molecules known as product (chemistry), products. Almost all metabolism, metabolic processes in the cell (biology), 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, 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 include Ribozyme, catalytic RNA molecules, also called ribozymes. They are sometimes descr ...
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Friedreich's Ataxia
Friedreich's ataxia (FRDA) is a rare, inherited, autosomal recessive neurodegenerative disorder that primarily affects the nervous system, causing progressive damage to the spinal cord, peripheral nerves, and cerebellum, leading to impaired muscle coordination (''ataxia''). The condition typically manifests in childhood or adolescence, with initial symptoms including difficulty walking, loss of balance, and poor coordination. As the disease progresses, it can also impact speech, vision, and hearing. Many individuals with Friedreich's ataxia develop scoliosis, diabetes, and hypertrophic cardiomyopathy, a serious heart condition that is a leading cause of mortality in patients. Friedreich's ataxia is caused by mutations in the ''FXN'' gene, which result in reduced production of frataxin, a protein essential for mitochondrial function, particularly in iron-sulfur cluster biogenesis. The deficiency of frataxin disrupts cellular energy production and leads to oxidative stress, co ...
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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 se ...
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RIF1
Telomere-associated protein RIF1 is a protein that in humans is encoded by the ''RIF1'' 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 .... 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 ...
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RARS2
RARS is an acronym for Robot Auto Racing Simulator. It is an open source 3D racing simulator. RARS is designed to enable 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 * 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.
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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 ...
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PRDX6
Peroxiredoxin-6 is a protein that in humans is encoded by the ''PRDX6'' 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 .... It is a member of the peroxiredoxin family of antioxidant enzymes. Peroxiredoxin 6 is widely distributed in several organs, especially the lungs. 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. References Further reading * * * * * * * * * * * * * * * * * ...
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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 o ...
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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. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which forms homodimers In biochemistry, a protein dimer is a macromolecular complex or multimer formed by two protein monomers, or single proteins, which are usually non-covalently bound. Many macro ...
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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 A molecule is a group of two or more atoms that are held together by attractive forces known as chemical bonds; depending on context, the term may or may not include ions that satisfy this criterion. In quantum physics, organic chemistry ... 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 copy. References Further reading * * * ...
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DDX41
Probable ATP-dependent RNA helicase DDX41 is an enzyme that in humans is encoded by the ''DDX41'' gene. DEAD box proteins, characterized by the conserved motif Asp- Glu- Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Based on studies in Drosophila, the gene is widely required during post-transcriptional gene expression. Germ line DDX41 mutations define a unique subtype of myeloid neoplasms. Function DDX41 is believed to take part in several cell functions. It is mainly concentrated in the nucleus of th ...
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