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Description:
The N-terminal may be involved in transducing a signal required for tight junction assembly, while the C-terminal may have specific properties of tight junctions. The alpha domain might be involved in stabilizing junctions. Plays a role in the regulation of cell migration by targeting CDC42BPB to the leading edge of migrating cells.
Description:
NIPSNAP2 is a 286 amino acid protein that is abundantly expressed in heart and skeletal muscle. Belonging to the NIPSNAP family, NIPSNAP2 may be involved in vesicular transport. NIPSNAP2 contains a signal peptide, a transmembrane domain and two tyrosine phosphorylation sites. NIPSNAP2 is encoded by a gene mapping to human chromosome 7p11.2. Chromosomal region 7p12 is amplified in approximately 40% of glioblastomas, the most common and malignant form of central nervous system tumor. Human chromosome 7 houses over 1,000 genes and comprises nearly 5% of the human genome. Defects in some of the genes localized to chromosome 7 have been linked to Osteogenesis imperfecta, Williams-Beuren syndrome, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome.
Description:
The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibres and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho.
Description:
The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho.
Description:
This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008].
Description:
This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site that is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. This protein is involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. This protein is transcribed from a monocistronic mRNA early in development, and from a bicistronic mRNA in later stages that also encodes the LAG1 homolog, ceramide synthase 1 gene.
Description:
The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho.
Description:
The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho.
Description:
HGFA Inhibitor 1 is an endogenous inhibitor of the kunitz-type serine proteinase HGF-activator (HGFA). HGF was first described as a hepatocyte-specific mitogen and survival factor and has since been shown to exert a variety of actions on many cell types by binding to its MET receptor. HGF is activated by cleavage of the single-chain form to form a two-chain version by HGFA. HGFA Inhibitor 1 also inhibits trypsin and MTSP-1 (Matriptase), a serine proteinase that also activates HGF. HGFB Inhibitor 1 is a splice variant of HGFA Inhibitor 1 and contains a 16 amino acid insert after the first kringle domain, relative to the HGFA Inhibitor 1 sequence.
Description:
Glutathione (GSH) is a tripeptide antioxidant which reduces disulfide bonds between cytoplasmic proteins. The constitutive enzyme glutathione reductase transforms glutathione into its reduced state which ultimately can provide a measure of cellular toxicity. GSTT2 (glutathione S-transferase theta-2), also known as GST class-theta-2, is a 244 amino acid enzyme with sulfatase activity that functions in conjugating reduced glutathione to hydrophobic electrophiles. GSTT2 exists as a homodimer in the cytoplasm and is expressed in low levels in the liver and the lung. GSTT2 belongs to the GST superfamily and contains both a GST C-terminal and a GST N-terminal domain. The gene encoding GSTT2 exists on human chromosome 22.
Description:
Involved in the Notch signaling pathway as Notch ligand. Activates NOTCH1 and NOTCH4. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting. Essential for retinal progenitor proliferation is required for suppressing rod fates in late retinal progenitors as well as for proper generation of other retinal cell types. During spinal cord neurogenesis, inhibits V2a interneuron fate.
Description:
Glucoamylase is an important industrial enzyme used in saccharification steps in both starch enzymatic conversion and in alcohol production. The catalytic domain degrades oligosaccharides from the non reducing end, releasing glucose, and the starch domain binds the enzyme to raw starch and to the cell wall.
Description:
Cadherins are calcium-dependent cell-cell adhesion molecules, and protocadherins constitute a subfamily of nonclassic cadherins. Protocadherin beta 13 is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections.
Description:
Tyrosine kinase that functions as cell surface receptor for fibrillar collagen and regulates cell attachment to the extracellular matrix, remodeling of the extracellular matrix, cell migration, differentiation, survival and cell proliferation. Collagen binding triggers a signaling pathway that involves SRC and leads to the activation of MAP kinases. Regulates remodeling of the extracellular matrix by up-regulation of the matrix metalloproteinases MMP2, MMP7 and MMP9, and thereby facilitates cell migration and wound healing. Required for normal blastocyst implantation during pregnancy, for normal mammary gland differentiation and normal lactation. Required for normal ear morphology and normal hearing (By similarity). Promotes smooth muscle cell migration, and thereby contributes to arterial wound healing. Also plays a role in tumor cell invasion. Phosphorylates PTPN11.
Description:
Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate several signaling pathways. Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates the AKT1 signaling pathway by phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Activated KIT also transmits signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3, STAT5A and STAT5B. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KIT signaling is modulated by protein phosphatases, and by rapid internalization and degradation of the receptor. Activated KIT promotes phosphorylation of the protein phosphatases PTPN6/SHP-1 and PTPRU, and of the transcription factors STAT1, STAT3, STAT5A and STAT5B. Promotes phosphorylation of PIK3R1, CBL, CRK (isoform Crk-II), LYN, MAPK1/ERK2 and/or MAPK3/ERK1, PLCG1, SRC and SHC1.
Description:
B lymphocytes marker CD20 is a non glycosylated protein with a molecular weight of 35 or 37 kDa depending on the degree of phosphorylation. Although not a member of the tetraspanin superfamily of cell surface receptors, it crosses the cell membrane four times. The CD20 antigen is present on human pre B lymphocytes and on B lymphocytes at all stages of maturation, except on plasma cells. Low level expression of the CD20 antigen has been detected on normal T lymphocytes. The CD20 molecule is involved in regulation of B cell differentiation, presumably via its reported function as a Ca++ channel subunit.
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