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May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier.

Supplier: Bioss

Integrin alpha-6/beta-1 is a receptor for laminin on platelets. Integrin alpha-6/beta-4 is a receptor for laminin in epithelial cells and it plays a critical structural role in the hemidesmosome.

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C22orf43 (chromosome 22 open reading frame 43), also known as MGC33025 or MGC75009, is a 229 amino acid protein encoded by a gene located on human chromosome 22, which contains over 500 genes and about 49 million bases. As the second smallest human chromosome, chomosome 22 contains a wide variety of genes with numerous functions. Phelan-McDermid syndrome, Neurofibromatosis type 2 and autism are associated with chromosome 22. A schizophrenia susceptibility locus has been identified on chromosome 22 and studies show that 22q11 deletion symptoms include a high incidence of schizophrenia. Translocations between chromosomes 9 and 22 may lead to the formation of the Philadelphia Chromosome and the subsequent production of the novel fusion protein, BCR-Abl, a potent cell proliferation activator found in several types of leukemia.

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Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family. It has histone deacetylase activity and represses transcription when tethered to a promoter. It may participate in the regulation of transcription through its binding with the zinc-finger transcription factor YY1. This protein can also down-regulate p53 function and thus modulate cell growth and apoptosis. This gene is regarded as a potential tumor suppressor gene. [provided by RefSeq, Jul 2008].

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A chromosomal aberration involving MLLT10 is associated with acute leukemias. Translocation t(10;11)(p12;q23) with MLL/HRX. The result is a rogue activator protein.A chromosomal aberration involving MLLT10 is associated with diffuse histiocytic lymphomas. Translocation t(10;11)(p13;q14) with PICALM.

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SDCCAG10 belongs to the cyclophilin-type PPIase family and contains 1 PPIase cyclophilin-type domain. There are two isoforms. PPIases accelerate the folding of proteins.

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Could be an important component in vesicular trafficking cycling between the Golgi complex and the apical plasma membrane. Could be involved in myelin biogenesis and/or myelin function.

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Hydrolyzes extracellular nucleotides into membrane permeable nucleosides. Exhibits AMP-, NAD-, and NMN-nucleosidase activities.

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Probably involved in connections of major cytoskeletal structures to the plasma membrane. High molecular weight cytoskeletal protein concentrated at regions of cell-substratum contact and, in lymphocytes, at cell-cell contacts (By similarity).

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Potent mitogen for mature parenchymal hepatocyte cells, seems to be a hepatotrophic factor, and acts as a growth factor for a broad spectrum of tissues and cell types. Activating ligand for the receptor tyrosine kinase MET by binding to it and promoting its dimerization.

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Component of the ACF complex, an ATP-dependent chromatin remodeling complex, that regulates spacing of nucleosomes using ATP to generate evenly spaced nucleosomes along the chromatin. The ATPase activity of the complex is regulated by the length of flanking DNA. Also involved in facilitating the DNA replication process. BAZ1A is the accessory, non-catalytic subunit of the complex which can enhance and direct the process provided by the ATPase subunit, SMARCA5, probably through targeting pericentromeric heterochromatin in late S phase. Moves end-positioned nucleosomes to a predominantly central position. May have a role in nuclear receptor-mediated transcription repression.Component of the histone-fold protein complex CHRAC complex which faciliates nucleosome sliding by the ACF complex and enhances ACF-mediated chromatin assembly. The C-terminal regions of both CHRAC1 and POLE1 are required for these functions.

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Key regulator of entry into cell division that acts as a tumor suppressor. Promotes G-G1 transition when phosphorylated by CDK3/cyclin-C. Acts as a transcription repressor of E2F1 target genes. The underphosphorylated, active form of RB1 interacts with E2F1 and represses its transcription activity, leading to cell cycle arrest. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases SUV39H1, SUV42H1 and SUV42H2, leading to epigenetic transcriptional repression. Controls histone H4 'Lys-2' trimethylation. Inhibits the intrinsic kinase activity of TAF1. Mediates transcriptional repression by SMARCA4/BRG1 by recruiting a histone deacetylase (HDAC) complex to the c-FOS promoter. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex (By similarity). In case of viral infections, interactions with SV4 large T antigen, HPV E7 protein or adenovirus E1A protein induce the disassembly of RB1-E2F1 complex thereby disrupting RB1's activity.

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HDX.

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May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis.

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GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. Involved in protein trafficking among different compartments. Modulates vesicle budding and uncoating within the Golgi complex. Deactivation induces the redistribution of the entire Golgi complex to the endoplasmic reticulum, suggesting a crucial role in protein trafficking. In its GTP-bound form, its triggers the association with coat proteins with the Golgi membrane. The hydrolysis of ARF1-bound GTP, which is mediated by ARFGAPs proteins, is required for dissociation of coat proteins from Golgi membranes and vesicles.

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The RING-type zinc finger motif is present in a number of viral and eukaryotic proteins and is made of a conserved cysteine-rich domain that is able to bind two zinc atoms. Proteins that contain this conserved domain are generally involved in the ubiquitination pathway of protein degradation. RNF215 (ring finger protein 215), is a 377 amino acid multi-pass membrane protein containing one RING-type zinc finger. The gene encoding RNF215 maps to human chromosome 22, which houses over 500 genes and is the second smallest human chromosome. Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome, Neurofibromatosis type 2, autism and schizophrenia.

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Activates the Jnk signaling pathway. Dephosphorylates and deactivates p38 and stress-activated protein kinase /c-Jun N-terminal kinase (SAPK/JNK)

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Potassium channels are a group of ubiquitously expressed proteins that serve numerous functions in excitable and non-excitable cells. One class of integral membrane potassium channels is the large conductance, calcium-activated potassium channel (Maxi K+). Maxi K+ differs from most other potassium channels in that its activation is controlled by both increases in intracellular calcium and by membrane depolarization. Maxi K+ dual activation is possible because of its structure. The core of the channel, which is similar to other potassium channels, is a Maxi K+ alpha homotetramer that contains both a voltage sensor and an intracellular calcium binding domain. In vascular smooth muscle, an auxiliary beta-subunit is found in a 1:1 stoichiometry. The beta-subunit exhibits its effect on the Maxi K+ channel by effectively decreasing by 5- to 10- fold the concentration of calcium required to keep the pore open. Maxi K+ beta is the target for possible therapeutics because of its role in blood flow and blood pressure regulation.

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Neuron navigator 1 is a 1877 amino acid cytoplasmic protein that is involved in neuronal migration. Neuron navigtor 1 is widely expressed at low levels, though highest expression is found in both adult and fetal nervous tissue. Through interaction with tubulin, Neuron navigator 1 associates with a subset of mirotubule plus ends present in the growth cone. Overexpression of Neuron navigator 1 leads to microtubule bundling, whereas a reduction of its levels causes loss of directionality in the migration of pontine cell leading processes. There are seven isoforms of Neuron navigator 1 that are produced as a result of alternative splicing events.

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Binds to WNT proteins and inhibits their activities. May be involved in mesoderm segmentation.

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Metalloproteinase which specifically cleaves IGFBP-4 and IGFBP-5, resulting in release of bound IGF. Cleavage of IGFBP-4 is dramatically enhanced by the presence of IGF, whereas cleavage of IGFBP-5 is slightly inhibited by the presence of IGF.

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Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.

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May modulate neuronal adhesion and neurite growth during development by binding to neural cell adhesion molecules (NG-CAM and N-CAM). Chondroitin sulfate proteoglycan; binds to hyaluronic acid.

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ASH1L is a 2,969 amino acid protein encoded by the human gene ASH1L. ASH1L belongs to the histone-lysine methyltransferase family (SET2 subfamily) and contains three AT hook DNA-binding domains, one AWS domain, one BAH domain, one bromodomain, one PHD-type zinc finger, one post-SET domain and one SET domain. It is a widely expressed nuclear protein with highest expression found in brain, heart and kidney. ASH1L is a histone methyltransferase and is believed to methylate 'Lys-4' of Histone H3, which is a specific tag for epigenetic transcriptional activation.

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CacyBP is a 228 amino acid protein encoded by the human gene CACYBP. CacyBP is primarily a nuclear protein that contains one CS domain and one SGS domain. CacyBP is believed to be involved in calcium-dependent ubiquitination and subsequent proteosomal degradation of target proteins. It most likely serves as a molecular bridge in ubiquitin E3 complexes. It also participates in the ubiquitin-mediated degradation of b-catenin. CacyBP is thought to be a potential inhibitor of cell growth and invasion in the gastric cancer cell through its effects on b-catenin protein expression and transcriptional activation of TCF/LEF.

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May play a role in the control of meiotic division and germ cell differentiation through regulation of pairing and recombination during meiosis.

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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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Encoding over 1,100 genes within 132 million bases, chromosome 12 makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy. The C12orf52 gene product has been provisionally designated C12orf52 pending further characterization.

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Receptor for SLIT2, and probably SLIT1, which are thought to act as molecular guidance cue in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development.Involvement in disease:Defects in ROBO2 are the cause of vesicoureteral reflux type 2 (VUR2) . VUR is a complex, genetically heterogeneous developmental disorder characterized by the retrograde flow of urine from the bladder into the ureter and is associated with reflux nephropathy, the cause of 15% of end-stage renal disease in children and young adults.

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ACADM protein is a medium chain specific (C4 to C12 straight chain) acyl Coenzyme A dehydrogenase. The enzyme catalyzes the initial step of the mitochondrial fatty acid beta oxidation pathway. ACADM expression is induced during periods of fasting, when reliance on fatty acids for energy is increased. Clinical phenotypes are associated with ACADM hereditary deficiency.