Category: Proteins & Peptides

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Reference: GTX88050-PEP

This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 28]

Reference: GFH173AF-100

Interleukin-1 α (IL-1 α) is expressed by epithelial cells, activated macrophages, neutrophils, and endothelial cells to regulate immune responses. IL-1 α signals through the IL-1 receptor, type 1 (IL-1R1) to activate the myeloid differentiation primary response 88 (MYD88) signaling pathway, which contains the cytoplasmic Toll/IL-1 receptor (TIR) domain adapter. IL-1 α and the independently regulated IL-1 β protein have overlapping proinflammatory activities to induce adhesion molecule expression on epithelial cells, control fever induction, initiate rheumatoid arthritis, and promote septic shock.

Reference: GFH173AF-1000

Interleukin-1 α (IL-1 α) is expressed by epithelial cells, activated macrophages, neutrophils, and endothelial cells to regulate immune responses. IL-1 α signals through the IL-1 receptor, type 1 (IL-1R1) to activate the myeloid differentiation primary response 88 (MYD88) signaling pathway, which contains the cytoplasmic Toll/IL-1 receptor (TIR) domain adapter. IL-1 α and the independently regulated IL-1 β protein have overlapping proinflammatory activities to induce adhesion molecule expression on epithelial cells, control fever induction, initiate rheumatoid arthritis, and promote septic shock.

Reference: GTX88052-PEP

The protein encoded by this gene is found as a pentamer and is a major substrate for the cAMP-dependent protein kinase in cardiac muscle. The encoded protein is an inhibitor of cardiac muscle sarcoplasmic reticulum Ca(2+)-ATPase in the unphosphorylated state, but inhibition is relieved upon phosphorylation of the protein. The subsequent activation of the Ca(2+) pump leads to enhanced muscle relaxation rates, thereby contributing to the inotropic response elicited in heart by beta-agonists. The encoded protein is a key regulator of cardiac diastolic function. Mutations in this gene are a cause of inherited human dilated cardiomyopathy with refractory congestive heart failure. [provided by RefSeq, Jul 28]

Reference: GFM87-5

Interleukin-1 α (IL-1 α) is expressed by epithelial cells, activated macrophages, neutrophils, and endothelial cells to regulate immune responses. IL-1 α signals through the IL-1 receptor, type 1 (IL-1R1) to activate the myeloid differentiation primary response 88 (MYD88) signaling pathway, which contains the cytoplasmic Toll/IL-1 receptor (TIR) domain adapter. IL-1 α and the independently regulated IL-1 β protein have overlapping proinflammatory activities to induce adhesion molecule expression on epithelial cells, control fever induction, initiate rheumatoid arthritis, and promote septic shock.

Reference: GTX88053-PEP

The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 2S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 2S core alpha subunit. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 28]

Reference: GFM87-20

Interleukin-1 α (IL-1 α) is expressed by epithelial cells, activated macrophages, neutrophils, and endothelial cells to regulate immune responses. IL-1 α signals through the IL-1 receptor, type 1 (IL-1R1) to activate the myeloid differentiation primary response 88 (MYD88) signaling pathway, which contains the cytoplasmic Toll/IL-1 receptor (TIR) domain adapter. IL-1 α and the independently regulated IL-1 β protein have overlapping proinflammatory activities to induce adhesion molecule expression on epithelial cells, control fever induction, initiate rheumatoid arthritis, and promote septic shock.

Reference: GTX88056-PEP

The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.[provided by RefSeq, Sep 29]

Reference: GFM87-100

Interleukin-1 α (IL-1 α) is expressed by epithelial cells, activated macrophages, neutrophils, and endothelial cells to regulate immune responses. IL-1 α signals through the IL-1 receptor, type 1 (IL-1R1) to activate the myeloid differentiation primary response 88 (MYD88) signaling pathway, which contains the cytoplasmic Toll/IL-1 receptor (TIR) domain adapter. IL-1 α and the independently regulated IL-1 β protein have overlapping proinflammatory activities to induce adhesion molecule expression on epithelial cells, control fever induction, initiate rheumatoid arthritis, and promote septic shock.

Reference: GTX88058-PEP

The GDP-dissociation inhibitors (GDIs) play a primary role in modulating the activation of GTPases by inhibiting the exchange of GDP for GTP. See ARHGDIB (MIM 62843).[supplied by OMIM, Nov 21]

Reference: GFM87-1000

Interleukin-1 α (IL-1 α) is expressed by epithelial cells, activated macrophages, neutrophils, and endothelial cells to regulate immune responses. IL-1 α signals through the IL-1 receptor, type 1 (IL-1R1) to activate the myeloid differentiation primary response 88 (MYD88) signaling pathway, which contains the cytoplasmic Toll/IL-1 receptor (TIR) domain adapter. IL-1 α and the independently regulated IL-1 β protein have overlapping proinflammatory activities to induce adhesion molecule expression on epithelial cells, control fever induction, initiate rheumatoid arthritis, and promote septic shock.