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Members of the protein kinase C (PKC) family function in many extracellular receptor-mediated signal transduction pathways. See PRKCA (MIM 176960) for further background information. The PRKCM gene encodes a cytosolic serine-threonine kinase that binds to the trans-Golgi network and regulates the fission of transport carriers specifically destined to the cell surface.[supplied by OMIM]

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Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Promotes internalization and degradation of frizzled proteins upon Wnt signaling. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes (By similarity).

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Monothiol glutaredoxin involved in the biogenesis of iron-sulfur clusters. Required for normal iron homeostasis. Required for normal regulation of hemoglobin synthesis by the iron-sulfur protein ACO1.

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This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009].

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This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq]

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CCRK contains a kinase domain most closely related to the cyclin-dependent protein kinases. The encoded kinase activates CDK2 and is involved in cell growth.

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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.

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GFAP, a class-III intermediate filament, is a cell-specific marker that, during the development of the central nervous system, distinguishes astrocytes from other glial cells.

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Fe65L2 is a 486 amino acid protein that contains one WW domain and two PID domains. Binding to the intracellular domain of the ∫-Amyloid precursor protein, Fe65L2 is thought to modulate the internalization and, therefore, the accessibility and function of ∫-Amyloid. Via its ability to control the intracellular accumulation of ∫-Amyloid, Fe65L2 is thought to play a role in the pathogenesis of Alzheimer's disease. Fe65L2 exists as four alternatively spliced isoforms designated isoform I, isoform II, isoform III and isoform IV. Fe65L2 interacts with Amyloid-like protein and is encoded by a gene located on human chromosome 5, which contains 181 million base pairs and comprises nearly 6% of the human genome. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome, while deletion of the q arm or of chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.

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The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The mouse homolog of this protein has been shown to express in the inner nuclear layer of the retina, suggested its role in neuronal functioning. The specific function of this gene is unknown. [provided by RefSeq, Oct 2009].

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Eukaryotic RNA polymerase II mediates the synthesis of mature and functional messenger RNA. This is a multistep process, called the transcription cycle, that includes five stages: preinitiation, promoter, clearance, elongation and termination. Elongation is thought to be a critical stage for the regulation of gene expression. ELL (11-19 lysine-rich leukemia protein), also designated MEN, functions as an RNA polymerase II elongation factor that increases the rate of transcription by suppressing transient pausing by RNA polymerase II. It is also thought to regulate cellular proliferation. ELL is abundantly expressed in peripheral blood leukocytes, skeletal muscle, placenta and testis, with lower expression in spleen, thymus, heart, brain, lung, kidney, liver and ovary. The gene encoding human ELL, which maps to chromosome 19p13.1, is one of several genes that undergo translocation with the MLL gene on chromosome 11q23 in acute myeloid leukemia. MLL (myeloid/lymphoid leukemia, also designated ALL-1 and HRX) regulates embryonal and hematopoietic development.

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NHE-3 are integral membrane proteins that are expressed in most mammalian tissues, where they regulate intracellular pH and cell volume. NHEs mediate the transport of hydrogen (H+) ions out of cells in exchange for extracellular sodium (Na+) ions. While NHE-1 is ubiquitously expressed, the NHE isoforms 2-8 have distinct tissue- and cell type-dependent expression and inhibitory characteristics. NHE-3 localizes to the apical membrane of renal proximal tubules where it is responsible for most of the sodium transport and fluid reabsorption. NHE-3 translocates to internal pools where it mediates natriuresis when blood pressure increases abruptly. NHE-3 is also expressed in the stomach and functions to protect the mucosa by secreting protons that diffuse into the mucous cells.

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In Drosophila, neuronal cell fate decisions are directed by NUMB, a signaling adapter protein with two protein-protein interaction domains, namely a phosphotyrosine-binding domain and a proline-rich SH3-binding region (PRR). The mammalian NUMB homolog plays a role in the determination of cell fate during development and binds with a variety of proteins, including Eps15, LNX1 and Notch 1. NumbL (NUMB-like protein), also known as Numb-R, NBL, CAG3A, CTG3a, NUMBLIKE or TNRC23, is a 609 amino acid cytoplasmic protein that, like NUMB, is thought to play a role in cell fate. Expressed at high levels in developing brain tissue, NumbL contains one PID (phosphotyrosine interaction domain) and plays an important role in neuronal differentiation, possibly associating with Eps15 and Notch 1. In mice, deletion of the NumbL gene is associated with early embryonic death, suggesting an essential role for NumbL in early development.

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HCP5 is a region present on chromosome 6p21.3 that is characterised by multiple duplicated gene families. HCP5 (HLA class I histocompatibility antigen protein P5), also known as P5-1, is a 132 amino acid protein that is encoded by a gene mapping to human chromosome 6p21.33. Localising within the MHC class I region, HCP5 is not structurally related to other MHC class I genes, but does have high sequence similarity with HERV-L and HERV-16. HCP5 also has high sequence homology to retroviral Pol genes, making it a possible candidate for interaction with HIV-1 through an antisense mechanism that prevents retrovirus transcription. Single-nucleotide polymorphisms (SNPs) to the region of the HCP5 gene that corresponds with HLA-B has been linked to a lower HIV-1 viral set point. HCP5 is highly expressed in lymphoid tissues, spleen and activated lymphocytes, as well as B-cell and natural killer (NK) cell lines.

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UBE20, also known as E2-230K, is a 1,292 amino acid member of the uniquitin-conjugating enzyme family that is involved in protein modification. Expressed predominately in heart and skeletal muscle, UBE2O functions to catalyze the ATP-dependent covalent attachment of ubiquitin to select proteins, thereby targeting the ubiquitinated proteins for proteasomal degradation. The gene encoding UBE2O maps to human chromosome 17, which comprises over 2.5% of the human genome and encodes over 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Tumor suppressor p53 is necessary for maintenance of cellular genetic integrity by moderating cell fate through DNA repair versus cell death. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. Like p53, BRCA1 is directly involved in DNA repair, though specifically it is recognized as a genetic determinant of early onset breast cancer and predisposition to cancers of the ovary, colon, prostate gland and fallopian tubes.

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Associates with cyclin G and CDK5. Seems to act as an auxilin homolog that is involved in the uncoating of clathrin-coated vesicles by Hsc70 in non-neuronal cells. Expression oscillates slightly during the cell cycle, peaking at G1.Tissue specificity: Ubiquitous. Highest in testis.

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C3orf31 (chromosome 3 open reading frame 31), also known as MGC16471 or DKFZp434E0519, is a 316 amino acid mitochondrial protein that belongs to the MMP37 family and may be involved in translocation of transit peptide-containing proteins across the mitochondrial inner membrane. C3orf24 is encoded by a gene that maps to human chromosome 3p25.2. Chromosome 3 is made up of approximately 214 million bases encoding over 1,100 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 tumor 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.

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BEND3

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IKK beta (I-Kappa-B kinase-beta) is a member of the IKK complex which is composed of IKK alpha, IKK beta, IKK gamma and IKAP. Phosphorylation of I-Kappa-B on a serine residue by the IKK complex frees NF-kB from I-Kappa-B and marks it for degradation via ubiquination. IKK beta has been shown to activate NF-kB and phosphorylate IKB alpha and beta. Phosphorylation of 2 sites at the activation loop of IKK beta is essential for activation of IKK by TNF and IL1. Once activated, IKK beta autophosphorylates which in turn decreases IKK activity and prevents prolonged activation of the inflammatory response. Additionally, IKK beta activity can also be regulated by MEKK1.

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Representing about 2% of human DNA, chromosome 20 consists of approximately 63 million bases and 600 genes. Chromosome 20 contains a region with numerous genes expressed in the epididymis, which are thought important for seminal production, and some viewed as potential targets for male contraception. The PRNP gene encoding the prion protein associated with spongiform encephalopathies, like Creutzfeldt-Jakob disease, is found on chromosome 20. Amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome are also associated with chromosome 20. The C20orf151 gene product has been provisionally designated C20orf151 pending further characterization.

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TANC (tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein), also known as TANC1, is a 1,861 amino acid postsynaptic cell membrane protein that contains eleven ANK repeats, three TPR repeats and belongs to the TANC family. Considered a scaffolding component in the postsynaptic density, TANC interacts with TNIK, SAPAP1, Alpha-internexin, CaMKII, NMDA 2 and GluR-1. It is also thought that TANC interacts directly with SAP 97, PSD-95 and Homer. Upon stimulation by Rap 2, MINK1 and TNIK may phosphorylate TANC. The TANC gene encodes two alternatively spliced isoforms, contains approximately 264,025 bases and maps to human chromosome 2q24.2. Making up approximately 8% of the human genome, chromosome 2 consists of 237 million bases and encodes over 1,400 genes. A number of genetic diseases are linked to genes on chromosome 2 including Harlequin icthyosis, sitosterolemia and Alstré°‰ syndrome.

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Isomerase that catalyzes the conversion of PGH2 into the more stable prostaglandin E2 (PGE2) (By similarity). May also have transactivation activity toward IFN-gamma (IFNG), possibly via an interaction with CEBPB; however, the relevance of transcription activation activity remains unclear.

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HSL/LIPE is found in adipose tissue and heart, where it primarily hydrolyzes stored triglycerides to free fatty acids. It is also found in steroidogenic tissues, where it principally converts cholesteryl esters to free cholesterol for steroid hormone production. There are two named isoforms.

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GCN2 belongs to a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor 2 to downregulate protein synthesis in response to varied cellular stresses.

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C15orf2 may be involved in spermatogenesis. Testis-specific in adults.

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Brain-specific neurabin I (neural tissue-specific F-actin binding protein I) is highly concentrated in the synapse of developed neurons; it localizes in the growth cone lamellipodia during neuronal development (1). Suppression of endogenous neurabin in rat hippocampal neurons inhibits neurite formation (1). Neurabin I recruits active PP1 via a PP1-docking sequence; mutation of the PP1-binding motif halts filopodia and restores stress fibers in neurabin I-expressing cells (2,3). Neurabin II (Spinophilin) is ubiquitously expressed but is abundantly expressed in brain (4). Neurabin II localizes to neuronal dentritic spines, which are the specialized protrusions from dendritic shafts that receive most of the excitatory input in the CNS (5). Neurabin II may regulate dendritic spine properties as neurabin II(-) mice have increased spine density during development in vitro and exhibit altered filopodial formation in cultured cells (5). Neurabin may also play a role in glutamatergic transmission as Neurabin II(-) mice exhibit reduced long-term depression and resistance to kainate-induced seizures and neronal apoptosis (5). Neurabin II complexes with the catalytic subunit of protein phosphatase-1 (PP1) in vitro thus modulating the activity of PP1 (4).

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The tripartite motif (TRIM) family of proteins are characterized by a conserved TRIM domain that includes a coiled-coil region, a B-box type zinc finger, one RING finger and three zinc-binding domains. TRIM7 (tripartite motif-containing 7), also known as RNF90 or GNIP, is a 511 amino acid protein that belongs to the TRIM family and contains one RING-type zinc finger, one B box-type zinc finger and one SPRY domain. Expressed in placenta and skeletal muscle and present at lower levels in brain, heart and pancreas, TRIM7 localizes to both the cytoplasm and the nucleus where it exists as dimers and is thought to participate in the initiation of glycogen synthesis. Multiple isoforms of TRIM7 exist due to alternative splicing events.

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Fish, a potential Src substrate, is a broadly expressed adaptor protein containing five SH3 domains and a phox homology (PX) domain (1). The Src family of protein tyrosine kinases act in signal transduction pathways (2-4). Src kinases vary in expression but are strongly regulated in vivo; catalytic activity is repressed by interacting with the SH3 domain (5-7). In Src-transformed fibroblasts and in normal cells treated with certain growth factors fish is tyrosine-phosphorylated (1). Treatment of cells with cytochalasin D results in rapid tyrosine phosphorylation of fish, along with activation of Src (1). Fish is likely to be involved in tyrosine kinase signaling and may have a role in cytoskeletal changes (1).

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Separase is a cysteine protease that is essential for mitotic progression by separating sister chromatids. Each cell must receive one chromatid of every chromosome, during mitosis. Cohesin plays an important role in cohering sister chromatids during the prophase through anaphase stages of mitosis, making certain that genomic information is replicated accurately. As the cellular division process continues, separase destroys cohesin by means of cleavage, allowing the chromatids to separate and divide with the cell. Separase activity is highly regulated. It not only cleaves cohesin at the onset of anaphase but also cleaves itself, promoting downregulation of separase after anaphase. Should a human cell become an aneuploid (one too many or too few chromatids), the embryo most likely will not survive. Should the embryo survive, it will most likely develop severe birth defects or later develop malignant cancers.

Supplier: Bioss

Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase.