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Description:
The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core 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. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase 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 non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 17.
Description:
The members of the murine Cdx family (Cdx1, Cdx2, and Cdx4) are members of the caudal-type homeobox family of genes, which are homologues of the Drosophila ‘caudal’ gene required for anterior-posterior regional identity. The intestine-specific transcription factors Cdx1 and Cdx2 are candidate genes for directing intestinal development, differentiation, proliferation and maintenance of the intestinal phenotype. The relative expression of Cdx1 to Cdx2 protein may be important in the anterior to posterior patterning of the intestinal epithelium and in defining patterns of proliferation and differentiation along the crypt-villus axis. Expression of the Cdx1 homeobox gene in epithelial intestinal cells promotes cellular growth and differentiation. Cdx1 positively regulates its own expression. Cdx1 and Cdx2 are expressed in the small intestine and colon of fetus and adult. A decrease in human Cdx1 and/or Cdx2 expression is associated with colorectal tumorigenesis. Both Cdx1 and Cdx2 genes must be expressed to reduce tumorigenic potential, to increase sensitivity to apoptosis and to reduce cell migration, suggesting that the two genes control the normal phenotype by independent pathways. The human Cdx1 gene maps to chromosome 5q31-q33 and encodes a 265-amino acid protein.
Description:
Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signal transduction from the cell surface to the nucleus. Dephosphorylates ROCK2 at Tyr-722 resulting in stimulatation of its RhoA binding activity.
Description:
Necessary for centrosome duplication at different stages of procentriole formation. Collaborates with CEP97, being involved in the suppression of a cilia assembly program. Required for correct spindle formation and has a role in regulating cytokinesis and genome stability via cooperation with CALM1 and CETN2.
Description:
OCEL1, is a 264 amino acid protein that is encoded by a gene which maps to human chromosome 19. Chromosome 19, which consists of over 63 million bases, houses approximately 1,400 genes and is recognized for having the greatest gene density of the human chromosomes. It is the genetic home for a number of immunoglobulin (Ig) superfamily members, including the killer cell and leukocyte Ig-like receptors, a number of ICAMs, the CEACAM and PSG family and Fc receptors (FcRs). Key genes for eye color and hair color also map to chromosome 19.
Description:
The Makorins are a family of putative ribonucleoproteins containing two to four C3H zinc fingers that may confer RNA-binding. In addition, they contain a C3HC4 RING zinc finger that allows them to function as E3 ubiquitin ligases. Makorin-2, also known as RNF62, HSPC070 or MKRN2, is a widely expressed, evolutionarily conserved protein with four C3H-type zinc fingers (three at the N-terminus and one at the C-terminus), one RING-type zinc finger and a cysteine and histidine motif similar to that found in Makorin-1. In Xenopus, Makorin-2 functions, via PI 3-kinase/Akt signaling, as a negative regulator of neurogenesis. In humans, Makorin-2 is overexpressed in various cancer cell lines, suggesting a possible role of Makorin-2 in tumor progression. In addition, Makorin-2 is co-expressed with Raf-1 in the same tissues and cell lines.
Description:
Microtubule-binding protein essential for faithful chromosome segregation. Mediates TRF1 and TERT accumulation in nucleolus and enhances TRF1 binding to telomeres. Inhibits telomerase activity. May inhibit cell proliferation and act as tumor suppressor.
Description:
The sense of taste provides animals with valuable information about the quality and nutritional value of food. There are four widely accepted categories of taste perception, sweet, bitter, salty, and sour. A controversial fifth taste, known as umami or monosodium glutamate (MSG), has also been described. A family of G protein coupled receptors are involved in taste perception, and includes T1R, which is involved in sweet and umami taste perception, and T2R, which is involved in bitter taste perception. The T1R family consists of three members, T1R1, T1R2, and T1R3 (1-4). These proteins form heterodimers, which alters the selectivity of the subunits (1-4). The T1R2 and T1R3 heterodimer functions as a receptor for sweet taste, and recognizes several sweet-tasting molecules, such as sucrose, saccharin, dulcin, and acesulfame-K (1–4). The T1R1 and T1R3 heterodimer recognizes L-amino-acids to perceive umami taste. Sweet taste transduction is carried out by two pathways (2). First, sucrose and other sugars activate Gas via the T1Rs, which activates adenylyl cyclase to generate cAMP. Artificial sweeteners bind to either Gbg or Gaq coupled T1Rs to activate PLCb2 and generate IP3 and DAG. Both pathways ultimately lead to neurotransmitter release. The mouse T1R3 gene maps to chromosome 4 near the Sac locus, a primary determinant of sweet preference in mice, and it is expressed in a subset of taste cells in circumvallate, foliate, and fungiform taste papillae.
Description:
Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.
Description:
Functions as a dosage-dependent inducer in mitotic control. Tyrosine protein phosphatase required for progression of the cell cycle. When phosphorylated, highly effective in activating G2 cells into prophase. Directly dephosphorylates CDK1 and activates its kinase activity.
Description:
Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.
Description:
BEND2 is a 799 amino acid protein that contains two BEN domains. BEND2 exists as two alternatively spliced isoforms and is considered a complete proteome. BEN domain mediates proteinDNA and proteinprotein interactions during chromatin organization and transcription. BEN domain may play a role in organization of viral DNA during replication or transcription. The BEND2 gene maps to human chromosome Xp22.13. Chromosome X consists of about 153 million base pairs and nearly 1,000 genes. The X and Y chromosomes are the human sex chromosomes. The combination of an X and Y chromosome lead to normal male development while two copies of X lead to normal female development. Color blindness, hemophilia, and Duchenne muscular dystrophy are well known X chromosome-linked conditions which affect males more frequently as males carry a single X chromosome.
Description:
The X and Y chromosomes are the human sex chromosomes. Chromosome X consists of about 153 million base pairs and nearly 1,000 genes. The combination of an X and Y chromosome lead to normal male development while two copies of X lead to normal female development. There are a number of conditions related to an unsual number and combination of sex chromosomes being inherited. More than one copy of the X chromosome with a Y chromosome causes Klinefelter's syndrome. A single copy of X alone leads to Turner's syndrome. More than 2 copies of the X chromosome, in the absence of a Y chromosome, is known as Triple X syndrome. Color blindness, hemophilia, and Duchenne muscular dystrophy are well known X chromosome-linked conditions which affect males more frequently as males carry a single X chromosome. The CXorf56 gene product has been provisionally designated CXorf56 pending further characterization.
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