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Description:
The ubiquitin (Ub) pathway involves three sequential enzymatic steps that facilitate the conjugation of Ub and Ub-like molecules to specific protein substrates. The first step requires ATP-dependent activation of the Ub C-terminus and assembly of multi-Ub chains by a Ub-activating enzyme known as the E1 component. The Ub chain is then conjugated to the Ub-conjugating enzyme (E2) to generate an intermediate Ub-E2 complex. The Ub-ligase (E3) then catalyzes the transfer of Ub from E2 to the appropriate protein substrate. UBE2U (ubiquitin-conjugating enzyme E2U) is a 321 amino acid E2 ubiquitin conjugating enzyme that catalyzes the covalent attachment of ubiquitin to other proteins. Existing as two alternatively spliced isoforms, UBE2U is encoded by a gene located on human chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome.
Description:
IL-1R9 is a member of the interleukin-1/Toll-like receptor family expressed in fetal brain. It is a single pass transmembrane protein with a highly conserved cytoplasmic region that is slightly longer than that of other family members. IL-1R9 is highly homologous to IL-1R8 and the IL-1 accessory protein receptor chains. The genes encoding IL-1R9 and IL-1R8 are both found on the X-chromosome in the region associated with X-linked non-syndromic mental retardation. Unlike other family members, IL-1R9 and IL-1R8 do not activate NF-kB.
Description:
The ubiquitin (Ub) pathway involves three sequential enzymatic steps that facilitate the conjugation of Ub and Ub-like molecules to specific protein substrates. The first step requires ATP-dependent activation of the Ub C-terminus and assembly of multi-Ub chains by a Ub-activating enzyme known as the E1 component. The Ub chain is then conjugated to the Ub-conjugating enzyme (E2) to generate an intermediate Ub-E2 complex. The Ub-ligase (E3) then catalyzes the transfer of Ub from E2 to the appropriate protein substrate. UBE2U (ubiquitin-conjugating enzyme E2U) is a 321 amino acid E2 ubiquitin conjugating enzyme that catalyzes the covalent attachment of ubiquitin to other proteins. Existing as two alternatively spliced isoforms, UBE2U is encoded by a gene located on human chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome.
Description:
May play an essential role in local proteolysis of the extracellular matrix and in leukocyte migration. Could play a role in bone osteoclastic resorption. Cleaves KiSS1 at a Gly-|-Leu bond. Cleaves type IV and type V collagen into large C-terminal three quarter fragments and shorter N-terminal one quarter fragments. Degrades fibronectin but not laminin or Pz-peptide.
Description:
Negative regulator of beta amyloid peptide production. May inhibit the processing of APP by blocking its access to alpha-and beta-secretase. Binding to the beta-secretase-cleaved APP C-terminal fragment is negligible, suggesting that ITM2C is a poor gamma-secretase cleavage inhibitor. May play a role in TNF-induced cell death and neuronal differentiation.
Description:
Negative regulator of beta amyloid peptide production. May inhibit the processing of APP by blocking its access to alpha-and beta-secretase. Binding to the beta-secretase-cleaved APP C-terminal fragment is negligible, suggesting that ITM2C is a poor gamma-secretase cleavage inhibitor. May play a role in TNF-induced cell death and neuronal differentiation.
Description:
This gene encodes a C2H2 zinc finger protein with transactivation and DNA-binding activities. It has been shown to have anti-proliferative properties, and thus thought to function as a tumor suppressor. In addition, overexpression of this gene during fetal development is believed to underlie the rare disorder, transient neonatal diabetes mellitus (TNDM). This gene is imprinted, with preferential expression of the paternal allele in many tissues, however, biallelic expression has been noted in peripheral blood leucocytes. A recent study reports that tissue-specific imprinting results from variable utilization of monoallelic and biallelic promoters. Many transcript variants differing in the 5' UTR and encoding two different isoforms, have been found for this gene. [provided by RefSeq, Oct 2010].
Description:
Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF1B. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN1 is the most important isozyme under normoxia and, through regulating the stability of HIF1, involved in various hypoxia-influenced processes such as angiogenesis in retinal and cardiac functionality. Target proteins are preferencially recognized via a LXXLAP motif.
Description:
E3 ubiquitin-protein ligase. Modulates cyclin B levels and participates in the regulation of cell cycle progression through the G2 phase. Overexpression causes delayed entry into mitosis.Tissue specificity: Highly expressed in heart. Detected at intermediate levels in liver and kidney, and at low levels in placenta, brain and lung.
Description:
Growth factor that mediates its effects via EGFR, ERBB2 and ERBB4. Required for normal cardiac valve formation and normal heart function. Promotes smooth muscle cell proliferation. May be involved in macrophage-mediated cellular proliferation. It is mitogenic for fibroblasts, but not endothelial cells. It is able to bind EGF receptor/EGFR with higher affinity than EGF itself and is a far more potent mitogen for smooth muscle cells than EGF. Also acts as a diphtheria toxin receptor.
Description:
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 C8orf40 gene product has been provisionally designated C8orf40 pending further characterisation.
Description:
The RAD23 gene of Saccharomyces cerevisiae is required for excision-repair of UV damaged DNA (1). RAD23 resembles the other DNA repair genes, RAD2, RAD6, RAD7, RAD18, and RAD54, all of which also exhibit increased transcription in response to DNA damage and during meiosis (2). RAD23 encodes a nuclear protein containing a ubiquitin-like domain required for biological function (3). RAD23 bears a ubiquitin-like domain at its amino terminus and this ubiquitin-like domain affects protein function in a nonproteolytic manner (3). Rad23 is a highly conserved protein involved in nucleotide excision repair (NER) that associates with the proteasome via its amino-terminus (4). Its carboxy-terminal ubiquitin-associated domain is evolutionarily conserved from yeast to humans (4). In addition to a role in DNA repair events in yeast, several lines of evidence indicate that the Rad23 protein may regulate the activity of the 26 S proteasome (5).
Description:
EPHEXIN is a 710 amino acid protein that localizes to both the membrane and the cytoplasm and contains one SH3 domain, one PH domain and one DH domain. Expressed at high levels in brain and present at lower levels in lung tissue, EPHEXIN interacts with EphA4 and functions as a guanine nucleotide exchange factor (GEF) that is capable of activating Rho A, Rac 1 and Cdc42 and is thought to play a role in axon guidance and growth cone collapse. EPHEXIN is subject to Src-dependent phosphorylation, an event that increases the GEF activity of EPHEXIN toward Rho A. Human EPHEXIN, which exists as multiple alternatively spliced isoforms, shares a high degree of sequence homology with its mouse counterpart, suggesting a conserved role between species.
Description:
This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons (PMIDs: 12032546, 20937277). [provided by RefSeq, Feb 2013].
Description:
EPHEXIN is a 710 amino acid protein that localizes to both the membrane and the cytoplasm and contains one SH3 domain, one PH domain and one DH domain. Expressed at high levels in brain and present at lower levels in lung tissue, EPHEXIN interacts with EphA4 and functions as a guanine nucleotide exchange factor (GEF) that is capable of activating Rho A, Rac 1 and Cdc42 and is thought to play a role in axon guidance and growth cone collapse. EPHEXIN is subject to Src-dependent phosphorylation, an event that increases the GEF activity of EPHEXIN toward Rho A. Human EPHEXIN, which exists as multiple alternatively spliced isoforms, shares a high degree of sequence homology with its mouse counterpart, suggesting a conserved role between species.
Description:
Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters.
UOM:
1 * 100 µl
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