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Description:
Cysteine-rich secretory proteins (CRISPs) represent a family of evolutionarily conserved proteins that may play a role in the innate immune system and are transcriptionally regulated by androgens in several tissues. GAPR-1 (Golgi-associated plant pathogenesis-related protein 1), also known as GLIPR2, is a 154 amino acid lipid anchor protein belonging to the CRISP family. GAPR-1 also shares similarity with the pathogenesis-related protein (PR) superfamily, and may play an important role in the immune system. Existing as a homodimer, GAPR-1 is highly expressed in lung and peripheral leukocytes with minor expression in liver and kidney. Containing a conserved sperm-coating protein (SCP) domain, GAPR-1 binds to negatively charged lipids and may be involved in the differentiation of epithelial cells into mesenchymal cells. Increased expression of GAPR-1 in kidney may contribute to the development of fibrosis.
Description:
GFOD2 is a 385 amino acid secreted protein of the extracellular matrix that belongs to the gfo/idh/mocA family. Existing as two alternatively spliced isoforms, GFOD2 enhances matrix assembly and is encoded by a gene that maps to human chromosome 16q22.1. Chromosome 16 encodes over 900 genes and comprises nearly 3% of the human genome. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, as is Crohn's disease, which is a gastrointestinal inflammatory condition.
Description:
GLCCI1, also known as TSSN1, GIG18 or FAM117C, is a 547 amino acid protein found in thymus and CD4(+)CD8(+) cells during specific stages of spermatogenesis in testis. Subject to phosphorylation, GLCCI1 is encoded by a gene located on human chromosome 7, which houses over 1,000 genes and comprises nearly 5% of the human genome. Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia.
Description:
The TEK receptor tyrosine kinase is expressed almost exclusively in endothelial cells in mice, rats, and humans. This receptor possesses a unique extracellular domain containing 2 immunoglobulin-like loops separated by 3 epidermal growth factor-like repeats that are connected to 3 fibronectin type III-like repeats. The ligand for the receptor is angiopoietin-1. Defects in TEK are associated with inherited venous malformations; the TEK signaling pathway appears to be critical for endothelial cell-smooth muscle cell communication in venous morphogenesis.TEK is closely related to the TIE receptor tyrosine kinase.
Description:
Sorting nexin 1 (SNX1) is a member of a large family of hydrophilic proteins that interact with a variety of receptor types and are involved in intracellular trafficking. SNX1 and the related splice variant, SNX1A, bind the epidermal growth factor (EGF) receptor and facilitate its transport to lysosome, thereby contributing to the degradation of the receptor. SNX2 and SNX4 share a high degree of amino acid similarity with SNX1, as they all contain a characteristic phox homology (PX) domain. These proteins are all partially associated with cellular membranes and they likewise associate with EGF, PDGF and insulin receptor tyrosine kinases. These nexins are widely expressed and yet have various tissue distribution patterns. Additionally, the sorting nexins can associate with each other and with a variety of other cellular proteins, suggesting that they exist as part of multi-subunit complexes. The related protein, SNX3, comprises a distinct subgroup of nexins that share less sequence similarity outside of the PX domain and have dramatically different binding affinities for the tyrosine kinase receptors.
Description:
Fukutin, a secreted protein, is expressed in various tissues in normal individuals. Fukutin colocalizes with a Golgi marker and a granular cytoplasmic distribution, suggesting that fukutin passes through the Golgi before being packaged into secretory vesicles. Fukutin may be located in the extracellular matrix, where it interacts with and reinforces a large complex encompassing the outside and inside of muscle membranes; alternatively, as a secreted protein, fukutin may cause muscular dystrophy by an unknown mechanism. The fukutin gene is expressed at similar levels in control fetal and adult brain, but is much reduced in Fukuyama congenital muscular dystrophy (FCMD) brains. Fukutin deficiency affects the modification of glycosylation of DAG1 (α-dystroglycan), which then cannot localize or function properly and may be degraded or eluted from the extracellular surface membrane of the muscle fiber. FCMD is the first human disease known to be caused by an ancient retrotransposal integration. The gene which encodes fukutin maps to human chromosome 9q31.
Description:
FSD1L is a 530 amino acid protein containing one B30.2/SPRY domain, one COS domain, and a fibronectin type-III domain. Existing as three alternatively spliced isoforms, FSD1L is expressed primarily in brain, with lower levels of expression found in thymus, pituitary and testis. FSD1L may function in microtubule binding during interphase and is encoded by a gene that maps to human chromosome 9q31.2. Chromosome 9 consists of about 145 million bases andd comprises approximately 4% of the human genome and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype.
Description:
Activation of FUSE, the far-upstream element, is required for the proper ex-pression of the mammalian gene c-Myc in undifferentiated cells. The binding of FBP (FUSE-binding protein or Far upstream element binding protein) to FUSE is necessary for c-Myc expression, indicating that FBP functions as a growth-dependent regulator of c-Myc expression. Isolated from proliferating HL60 cells, FBP, FBP2, and FBP3 comprise a family of single-stranded DNA-binding proteins that specifically bind to FUSE elements. The FBP transcription factors share a conserved central DNA-binding domain and show significant homology in their carboxyl-terminal activation domains. Expression of FBP is detected in undifferentiated cells and is substantially decreased following cellular differentiation.
Description:
FYTTD1 is a 318 amino acid protein belonging to the UIF family. FYTTD1 localizes to nucleus and is required for mRNA export from nucleus to cytoplasm. Functioning as an adaptor, FYTTD1 utilizes the BAT1/DDX39-TAP pathway, which is essential for efficient mRNA export and nuclear pore delivery. FYTTD1 interacts with SSRP1, a protein that is necessary for its recruitment of mRNAs, in addition to a mutually exclusive interaction with BAT1/DDX39 and TAP. FYTTD1 exists as four alternatively spliced isoforms and is encoded by a gene located on human chromosome 3q29.
Description:
May be involved in neurite outgrowth.G protein-coupled receptors (GPCRs) represent a large superfamily of cell-surface receptors that are involved in a multitude of physiological processes such as perception of sensory information, modulation of synaptic transmission, hormone release/action, regulation of cell contraction/migration and cell growth/differentiation. GPCRs interact with G proteins (heterotrimeric GTPases) to synthesize intracellular second messengers, such as diacylglycerol, cyclic AMP, inositol phosphates and calcium ions. Their diverse biological functions range from vision and olfaction to neuronal and endocrine signaling, and are involved in many pathological conditions. GRIN3 (G protein-regulated inducer of neurite outgrowth 3), also known as GPRIN3, is a 776 amino acid protein that contains a C-terminal region which shares a high homology with GRIN2 and GRIN1, and may function in neurite outgrowth.
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