"Bioss"

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Contributes to oxidative stress resistance by reducing cysteine-sulfinic acid formed under exposure to oxidants in the peroxiredoxins PRDX1, PRDX2, PRDX3 and PRDX4. Does not act on PRDX5 or PRDX6. May catalyze the reduction in a multi-step process by acting both as a specific phosphotransferase and a thioltransferase.

Supplier: Bioss

Representing about 2% of human DNA, chromosome 20 consists of approximately 63 million bases and 600 genes. Chromosome 20 contains a region with numerous genes expressed in the epididymis, which are thought important for seminal production, and some viewed as potential targets for male contraception. The PRNP gene encoding the prion protein associated with spongiform encephalopathies, like Creutzfeldt-Jakob disease, is found on chromosome 20. Amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome are also associated with chromosome 20. The C20orf72 gene product has been provisionally designated C20orf72 pending further characterization.

Supplier: Bioss

Intrinsic membrane protein of small synaptic vesicles. Probable vesicular channel protein (By similarity).

Supplier: Bioss

Acts as a transcriptional repressor. Represses the promoter activity of the CDC25C gene stimulated by NFYA.

Supplier: Bioss

Component of the vault ribonucleoprotein particle which is at least composed of MVP, PARP4 and one or more vault RNAs (vRNAs). Binds to MVP. Associates with TEP1. Widely expressed; the highest levels are in the kidney; also detected in heart, placenta, lung, liver, skeletal muscle, spleen, leukocytes and pancreas.

Supplier: Bioss

Schlafen family members are preferentially expressed in lymphoid tissues and are differentially regulated during thymocyte maturation. Schlafen proteins function as suppressors of cell growth and are thought to play a role in the maintenance of T cell quiescence. The prototype member of the Schlafen family, Slfn1, is transcriptionally unregulated during thymocyte positive selection, and the induction of Slfn1 induces a G0/G1 arrest, suggesting that Slfn1 participates in the regulation of cell cycle and potentially acts as a determining factor for apoptosis. These proteins all contain a largely conserved core domain within the center of the sequence, and yet they are substantially diversified at the N terminus. Slfn14 (Schlafen family member 14) is a 912 amino acid protein belonging to the Schlafen family. Slfn14 exists as two alternatively spliced isoforms and is encoded by a gene mapping to human chromosome 17q12.

Supplier: Bioss

AMP deaminase plays a critical role in energy metabolism.Involvement in diseaseDefects in AMPD3 are the cause of adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE); also known as erythrocyte AMP deaminase deficiency. AMPDDE is a metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders.

Supplier: Bioss

Made up of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome. The C8orf12 gene product has been provisionally designated C8orf12 pending further characterisation.

Supplier: Bioss

Ubiquitin like proteins fall into two classes: the first class, ubiquitin-like modifiers (UBLs) function as modifiers in a manner analogous to that of ubiquitin. Examples of UBLs are SUMO, Rub1 (also called Nedd8), Apg12 and Hub1. Proteins of the second class include Parkin, RAD23 and DSK2, are designated ubiquitin domain proteins (UDPs). These proteins contain domains that are related to ubiquitin but are otherwise unrelated to each other. In contrast to UBLs, UDPs are not proteolytically processed or conjugated to other proteins. Rub1 and the corresponding human homolog NEDD8 are activated by the E1 ubiquitin activating enzyme UBA2, that forms isopeptide linkages between thio esters. NEDD8 shows 80% homology to ubiquitin. The best known targets of Rub1 modification are members of the cullin family. Cullins are subunits of an E3 ubiquitin ligase complex called the Skp1 /Cul1/Cdc53 F box (SCF). The SCF promotes transfer of ubiquitin from a ubiquitin conjugating enzyme (E2) to the target protein. Rub1 modification may regulate SCF function or localization.

Supplier: Bioss

Rapidly transports Ca(2+) during excitation-contraction coupling. Ca(2+) is extruded from the cell during relaxation so as to prevent overloading of intracellular stores (By similarity).

Supplier: Bioss

CCNYL1 belongs to the cyclin family, Cyclin Y subfamily and contains 1 cyclin N terminal domain. The specific function of CCNYL1 is not yet known.

Supplier: Bioss

Functions as transport protein in the blood stream. Binds various ligands in the interior of its beta-barrel domain. Also binds synthetic drugs and influences their distribution and availability in the body. Appears to function in modulating the activity of the immune system during the acute-phase reaction.

Supplier: Bioss

CHCHD6

Supplier: Bioss

AKAP associated sperm protein (encoded by the gene ROPN1L) is a sperm protein which interacts with A-kinase anchoring protein, AKAP3, through the amphipathic helix region of AKAP3. The Type II regulatory subunit of cAMP-dependent protein kinase (PKARII) also binds to this helical domain of AKAP3, allowing PKARII to be targeted to specific subcellular compartments. It is suggested that sperm contains several proteins that bind to AKAPs in a manner similar to PKARII, and this encoded protein may be one of them.

Supplier: Bioss

The Drosophila hairy and Enhancer of split genes encode basic helix-loop-helix (bHLH) transcriptional repressors that function in the Notch signaling pathway and control segmentation and neural development during embryogenesis. The mammalian homologues of Drosophila hairy and Enhancer of split are the HES gene family members, HES1-6, which also encode bHLH transcriptional repressors that regulate myogenesis and neurogenesis. The HES family members form a complex with TLE, the mammalian homologue of Groucho, and this interaction is mediated by the carboxy terminal WRPW motif of the HES proteins. The HES/TLE complex functions by directly binding to DNA, instead of interfering with activator proteins. Most HES family members, including HES1 and HES5, preferentially bind to the N box (CACNAG) as opposed to the E box (CANNTG). HES2 binds to both N and E box sites, while HES6 does not bind DNA. Rather, HES6 inhibits HES1 activity, thereby promoting transcription. HES1 and HES2 are expressed in a variety of adult and embryonic tissues. HES3 is expressed exclusively in cerebellar Purkinje cells, and HES5 is found solely in the nervous system. HES6 is produced in brain as well as in the limb buds of developing embryos.

Supplier: Bioss

The BTB (broad-complex, Tramtrack and Bric a brac) domain, also known as the POZ (Poxvirus and zinc finger) domain, is an N-terminal homodimerization domain that contains multiple copies of kelch repeats and/or C2H2-type zinc fingers. Proteins that contain BTB domains are thought to be involved in transcriptional regulation via control of chromatin structure and function. BTBD17 (BTB/POZ domain-containing protein 17), also known as BTBD17A, galectin-3-binding protein-like or LGALS3BPL, is a 478 amino acid protein that contains one BTB (POZ) domain and a BACK (BTB/Kelch associated) domain. The gene encoding BTBD17 maps to human chromosome 17, which comprises over 2.5% of the human genome and encodes over 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome.