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Description:
Homeobox (HOX) genes, which share a highly conserved 183-bp sequence, encode proteins capable of binding to specific DNA sequences and functioning as transcription factors. During embryogenesis, HOX genes play a critical role in the spatial and temporal differentiation of cells. HoxC4, a sequence-specific transcription factor, belongs to the Antp HOX family and localizes to the nucleus. It functions as a part of a developmental regulatory system, providing cells with specific positional identities on the anterior-posterior axis. HoxC4 expression levels increase with differentiation of lymphoid cells, suggesting its role in the molecular regulation of hematopoiesis. HoxC4 is also expressed in differentiated keratinocytes.
Description:
Tau proteins are important Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity. The C-terminus binds axonal microtubules while the N-terminus binds neural plasma membrane components, suggesting that tau functions as a linker protein between both. Axonal polarity is predetermined by tau localization (in the neuronal cell) in the domain of the cell body defined by the centrosome. The short isoforms allow plasticity of the cytoskeleton whereas the longer isoforms may preferentially play a role in its stabilization. Tau proteins subcellular located in the axons of neurons, in the cytoso l and in association with plasma membrane components. It expressed in neurons. PNS-tau is expressed in the peripheral nervous system while the others are expressed in the central nervous system.
Description:
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms.
Description:
The EF-hand domain is a twelve amino acid loop motif that is commonly found in proteins that participate in calcium-binding events within the cell. EF-hand domains generally exist in a pair that, together, form a stable four-helix bundle that enables the binding of calcium ions. Swiprosin-2, also known as EFHD1 (EF-hand domain-containing protein D1), SWS2, PP3051 or MST133, is a 239 amino acid protein that contains two EF-hand domains and is expressed in a wide variety of tissues, including brain, liver, heart, kidney, testis, ovaries and spleen. Expression of Swiprosin-2, a possible calcium-binding protein, is upregulated during neuronal differentiation, suggesting a role for Swiprosin-2 in brain development and maturation.
Description:
The smallest of the human chromosomes, 21 makes up about 1.5% of the human genome. Chromosome 21 contains nearly 300 genes and 47 million base pairs. Down syndrome, also known as trisomy 21, is the disease most commonly associated with chromosome 21. Alzheimer's disease, Jervell and Lange-Nielsen syndrome and amyotrophic lateral sclerosis are also associated with chromosome 21. Translocations are found to occur between chromosome 21 and 8, and chromosome 21 and 12, in certain leukaemias. The C21orf70 gene product has been provisionally designated C21orf70 pending further characterisation.
Description:
Protein phosphatase 1 (PP1) is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. The protein is involved in regulation of ionic conductances and long term synaptic plasticity. It may play an important role in dephosphorylating substrates such as the postsynaptic density associated Ca (2+)/calmodulin dependent protein kinase II.PP1 comprises a catalytic subunit, PPP1CA, PPP1CB or PPP1CC (PP1C gamma), which is folded into its native form by inhibitor 2 and glycogen synthetase kinase 3, and then complexed to one or several targeting or regulatory subunits. PPP1R12A and PPP1R12B mediate binding to myosin. PPP1R3A, PPP1R3B, PPP1R3C and PPP1R3D mediate binding to glycogen.
Description:
C3orf18, also known as G20, is a 162 amino acid single pass membrane protein that is encoded by a gene mapping to human chromosome 3q25.3. Chromosome 3 is made up of approximately 214 million bases encoding over 1100 genes. Notably, there is a chemokine receptor gene cluster and a variety of human cancer related loci on chromosome 3. Particular regions of the chromosome 3 short arm are deleted in many types of cancer cells. Key tumour suppressing genes on chromosome 3 encode apoptosis mediator RASSF1, cell migration regulator HYAL1 and angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth disease are a few of the numerous genetic diseases associated with chromosome 3.
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 (1). SNX1 and the related splice variant, SNX1A, bind the epidermal growth factor (EGF) receptor, facilitate its transport to lysosome, and thereby contribute to the degradation of the receptor (2,3). SNX2 and SNX4 share a high degree of amino acid similarity with SNX1, as they all contain a characteristic phox homology (PX) domain (4). These proteins are all partially associated with cellular membranes, and they, likewise, associate with EGF, PDGF and insulin receptor tyrosine kinases (2). 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 multisubunit complexes (1,5). 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 (2,6).
Description:
Chromosome 7 is about 158 milllion bases long, encodes over 1000 genes and makes up about 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:
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 (1). SNX1 and the related splice variant, SNX1A, bind the epidermal growth factor (EGF) receptor, facilitate its transport to lysosome, and thereby contribute to the degradation of the receptor (2,3). SNX2 and SNX4 share a high degree of amino acid similarity with SNX1, as they all contain a characteristic phox homology (PX) domain (4). These proteins are all partially associated with cellular membranes, and they, likewise, associate with EGF, PDGF and insulin receptor tyrosine kinases (2). 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 multisubunit complexes (1,5). 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 (2,6).
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 (1). SNX1 and the related splice variant, SNX1A, bind the epidermal growth factor (EGF) receptor, facilitate its transport to lysosome, and thereby contribute to the degradation of the receptor (2,3). SNX2 and SNX4 share a high degree of amino acid similarity with SNX1, as they all contain a characteristic phox homology (PX) domain (4). These proteins are all partially associated with cellular membranes, and they, likewise, associate with EGF, PDGF and insulin receptor tyrosine kinases (2). 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 multisubunit complexes (1,5). 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 (2,6).
Description:
The product of this gene functions in the NF-kappaB signal transduction pathway. The encoded protein, and the similar and functionally redundant protein MAP3K7IP2/TAB2, forms a ternary complex with the protein kinase MAP3K7/TAK1 and either TRAF2 or TRAF6 in response to stimulation with the pro-inflammatory cytokines TNF or IL-1. Subsequent MAP3K7/TAK1 kinase activity triggers a signaling cascade leading to activation of the NF-kappaB transcription factor. The human genome contains a related pseudogene. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.
Description:
The product of this gene functions in the NF-kappaB signal transduction pathway. The encoded protein, and the similar and functionally redundant protein MAP3K7IP2/TAB2, forms a ternary complex with the protein kinase MAP3K7/TAK1 and either TRAF2 or TRAF6 in response to stimulation with the pro-inflammatory cytokines TNF or IL-1. Subsequent MAP3K7/TAK1 kinase activity triggers a signaling cascade leading to activation of the NF-kappaB transcription factor. The human genome contains a related pseudogene. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.
Description:
The smallest of the human chromosomes, 21 makes up about 1.5% of the human genome. Chromosome 21 contains nearly 300 genes and 47 million base pairs. Down syndrome, also known as trisomy 21, is the disease most commonly associated with chromosome 21. Alzheimer's disease, Jervell and Lange-Nielsen syndrome and amyotrophic lateral sclerosis are also associated with chromosome 21. Translocations are found to occur between chromosome 21 and 8, and chromosome 21 and 12, in certain leukaemias. The C21orf70 gene product has been provisionally designated C21orf70 pending further characterisation.
Description:
The smallest of the human chromosomes, 21 makes up about 1.5% of the human genome. Chromosome 21 contains nearly 300 genes and 47 million base pairs. Down syndrome, also known as trisomy 21, is the disease most commonly associated with chromosome 21. Alzheimer's disease, Jervell and Lange-Nielsen syndrome and amyotrophic lateral sclerosis are also associated with chromosome 21. Translocations are found to occur between chromosome 21 and 8, and chromosome 21 and 12, in certain leukaemias. DnaJC28 (DnaJ homolog subfamily C member 28), also known as C21orf55, C21orf78 or MGC27620 is a 388 amino acid protein that is expressed in the fetal and adult brain, testis, uterus, spleen and liver. It has been suggested that DnaJC28 may play a role in protein folding or as a chaperone. The DnaJC28 gene product has been provisionally designated DnaJC28 pending further characterisation.
Description:
The product of this gene functions in the NF-kappaB signal transduction pathway. The encoded protein, and the similar and functionally redundant protein MAP3K7IP2/TAB2, forms a ternary complex with the protein kinase MAP3K7/TAK1 and either TRAF2 or TRAF6 in response to stimulation with the pro-inflammatory cytokines TNF or IL-1. Subsequent MAP3K7/TAK1 kinase activity triggers a signaling cascade leading to activation of the NF-kappaB transcription factor. The human genome contains a related pseudogene. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.
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