SIAH1
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SIAH1
E3 ubiquitin-protein ligase SIAH1 is an enzyme that in humans is encoded by the ''SIAH1'' gene. Function This gene encodes for a polypeptide structure that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in the development of certain forms of Parkinson's disease, the regulation of the cellular response to hypoxia and induction of apoptosis. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. Interactions SIAH1 has been shown to interact with: * APC, * BAG1, * CACYBP, * KHDRBS3, * KIF22, * NUMB, * PEG10, * PEG3 * POU2AF1, * RBBP8, and * TRIB3 Tribbles homolog 3 is a protein that in humans is encoded by the ''TRIB3'' gene. Function The protein encoded by this gene is a p ...
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PEG10
Retrotransposon-derived protein PEG10 is a protein that in humans is encoded by the ''PEG10'' gene. Function This gene includes two overlapping reading frames of the same transcript encoding distinct isoforms. The shorter isoform has a CCHC-type zinc finger motif containing a sequence characteristic of gag proteins of most retroviruses and some retrotransposons, and it functions in part by interacting with members of the TGF-beta receptor family. The longer isoform has the active-site DSG consensus sequence of the protease domain of pol proteins. The longer isoform is the result of -1 translational frameshifting that is also seen in some retroviruses. Expression of these two isoforms only comes from the paternal allele due to imprinting. Increased gene expression (as observed by an increase in mRNA levels) is associated with hepatocellular carcinomas. PEG10 is a paternally expressed imprinted gene that is expressed in adult and embryonic tissues. Most notable expression occurs ...
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KHDRBS3
KH domain-containing, RNA-binding, signal transduction-associated protein 3 is a protein that in humans is encoded by the ''KHDRBS3'' gene. Interactions KHDRBS3 has been shown to interact with SIAH1. KHDRBS3 interacts with splicing protein Sam68 and oncogene metadherin in prostate cancer cells. Clinical significance KHDRBS3 (T-STAR) expression has been shown to be increased in prostate cancer tissue compared to the surrounding benign tissue. Expression of KHDRBS3 correlates with mpMRI signal measured through Likert score a system similar to PI-RADS. While still under debate, mpMRI signal correlates with higher Gleason grade and tumour size, in addition to histopathological features associated with clinically aggressive prostate cancer. Expression of KHDRBS3 was increased in the failing human myocardium of heart failure patients, here KHDRBS3 protein interacted with several important mRNAs coding for sarcomere components, such as actin gamma 1 (''ACTG1''), myosin light ch ...
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RBBP8
Retinoblastoma-binding protein 8 is a protein that in humans is encoded by the ''RBBP8'' gene. Function The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined. Interactions RBBP8 has been shown to interact with: * ATM, * BRCA1, * CTBP1, * LMO4, * RB1, * RBL1, * RBL2, and * SIAH1 E3 ubiquitin-protein ligase SIAH1 is an enzyme that in ...
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BAG1
BAG family molecular chaperone regulator 1 is a protein that in humans is encoded by the ''BAG1'' gene. Function The oncogene BCL2 is a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The protein encoded by this gene binds to BCL2 and is referred to as BCL2-associated athanogene. It enhances the anti-apoptotic effects of BCL2 and represents a link between growth factor receptors and anti-apoptotic mechanisms. At least three protein isoforms are encoded by this mRNA through the use of alternative translation initiation sites, including a non- AUG site. Clinical significance BAG gene has been implicated in age related neurodegenerative diseases as Alzheimer's. It has been demonstrated that BAG1 and BAG 3 regulate the proteasomal and lysosomal protein elimination pathways, respectively. * Interactions BAG1 has been shown to interact with: * Androgen receptor, * C-Raf, * Calcitriol receptor, * Glucocorticoid receptor, ...
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POU2AF1
POU domain class 2-associating factor 1 is a protein that in humans is encoded by the ''POU2AF1'' gene. The protein is also termed Oct coactivator from B cells (i.e. OCAB), Oct binding factor 1 (OBF1 or OBF-1), and, as commonly found in the literature, BOB1.https://www.ncbi.nlm.nih.gov/gene?term=(ocabene%20AND%20(Homo%20sapiens rgn%20AND%20alive rop20NOT%20newentryenesort=weight BOB1 is a transcriptional coactivator (i.e. a protein that controls the activity of transcription factors) which is expressed principally by B-cell lymphocytes and controls immunoglobulin and other genes critical for these cells expression of CD20, CRISP-3, and CD36. The expression of BOB1 has proven useful for identifying certain lymphomas as being B-cell lymphomas, as exemplified in studies which use BAB1 expression to help identify lymphomas as being diffuse large B-cell lymphomas, not otherwise specified. Interactions POU2AF1 has been shown to interact with: * POU2F1 and * SIAH1. See also ...
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PEG3
Paternally-expressed gene 3 protein is a protein that in humans is encoded by the ''PEG3'' gene. PEG3 is an imprinted gene expressed exclusively from the paternal allele and plays important roles in controlling fetal growth rates and nurturing behaviors as has potential roles in mammalian reproduction. PEG3 is a transcription factor that binds to DNA 1-13via the sequence motif AGTnnCnnnTGGCT, which it binds to using multiple Kruppel-like factors. It also regulate the expression of Pgm2l1 through the binding of the motif. Interactions PEG3 has been shown to interact with SIAH2 and SIAH1 E3 ubiquitin-protein ligase SIAH1 is an enzyme that in humans is encoded by the ''SIAH1'' gene. Function This gene encodes for a polypeptide structure that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 lig .... References Further reading

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NUMB (gene)
Protein numb homolog is a protein that in humans is encoded by the ''NUMB'' gene. The protein encoded by this gene plays a role in the determination of cell fates during development. The encoded protein, whose degradation is induced in a proteasome-dependent manner by MDM2, is a membrane-bound protein that has been shown to associate with EPS15, LNX1, and NOTCH1. Four transcript variants encoding different isoforms have been found for this gene. The protein Numb is coded for by the gene, ''NUMB'', whose mechanism appears to be evolutionarily conserved. Numb has been extensively studied in both invertebrates and mammals, though its function is best understood in ''Drosophila''. Numb plays a crucial role in asymmetrical cell division during development, allowing for differential cell fate specification in the central and peripheral nervous systems. During neurogenesis, Numb localizes to one side of the mother cell such that it is distributed selectively to one daughter cell. Thi ...
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KIF22
Kinesin-like protein KIF22 is a protein that in humans is encoded by the ''KIF22'' gene. The protein encoded by this gene is a member of kinesin-like protein family. This family of proteins are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. The C-terminal half of this protein has been shown to bind DNA. Studies with the Xenopus homolog suggests an essential role in metaphase chromosome alignment and maintenance. Interactions KIF22 has been shown to interact with SIAH1 E3 ubiquitin-protein ligase SIAH1 is an enzyme that in humans is encoded by the ''SIAH1'' gene. Function This gene encodes for a polypeptide structure that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligas .... Clinical relevance Mutations in this gene have been shown to cause developmental disorders such as Spondyloepimetaphyseal dysplasia with joint laxity. References Further reading

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CACYBP
Calcyclin-binding protein is a protein that in humans is encoded by the ''CACYBP'' gene. The protein encoded by this gene is a calcyclin binding protein. It may be involved in calcium-dependent ubiquitination and subsequent proteosomal degradation of target proteins. It probably serves as a molecular bridge in ubiquitin E3 complexes and participates in the ubiquitin-mediated degradation of beta-catenin. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. Protein Interactions CACYBP has been shown to interact with SKP1A and SIAH1. The CacyBP/SIP complex instead, is known to be a part of stress respons, since it interacts with chaperone HSP90 Hsp90 (heat shock protein 90) is a chaperone protein that assists other proteins to fold properly, stabilizes proteins against heat stress, and aids in protein degradation. It also stabilizes a number of proteins required for tumor growth, .... References External links ...
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APC (gene)
Adenomatous polyposis coli (APC) also known as deleted in polyposis 2.5 (DP2.5) is a protein that in humans is encoded by the ''APC'' gene. The APC protein is a negative regulator that controls beta-catenin concentrations and interacts with E-cadherin, which are involved in cell adhesion. Mutations in the ''APC'' gene may result in colorectal cancer. ''APC'' is classified as a tumor suppressor gene. Tumor suppressor genes prevent the uncontrolled growth of cells that may result in cancerous tumors. The protein made by the ''APC'' gene plays a critical role in several cellular processes that determine whether a cell may develop into a tumor. The APC protein helps control how often a cell divides, how it attaches to other cells within a tissue, how the cell polarizes and the morphogenesis of the 3D structures, or whether a cell moves within or away from tissue. This protein also helps ensure that the chromosome number in cells produced through cell division is correct. The APC p ...
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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 basic unit of heredity and 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 noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as gen ...
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