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RNF210

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SERPINI2 is a member of the serine protease inhibitor (serpin) superfamily made up of proteins which play central roles in the regulation of a wide variety of physiological processes, including coagulation, fibrinolysis, development, malignancy and inflammation. It may have a role in a growth-control, possibly growth-suppressing pathway and, when impaired, may be involved in pancreatic carcinogenesis. The protein is a member of the plasminogen activator inhibitor-1 family, a subset of the serpin superfamily whose members act as tissue-specific tPA inhibitors. Two alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene.

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Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf58 gene product has been provisionally designated C6orf58 pending further characterization.

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Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer, suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf120 gene product has been provisionally designated C6orf120 pending further characterization.

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FBXO36 is a 188 amino acid protein that contains one forty amino acid F-box region, making it a member of the F-box family. F-box proteins are critical components of the SCF (Skp1-CUL-1-F-box protein) type E3 ubiquitin ligase complex and are involved in substrate recognition and recruitment for ubiquitination. F-box proteins are members of a large family that regulates cell cycle, immune response, signaling cascades and developmental programs by targeting proteins, such as cyclins, cyclin-dependent kinase inhibitors, IkB-å and ∫-catenin, for degradation by the proteasome after ubiquitination. Functioning as a component of the SCF complex, FBXO36 is thought to recognize and bind to select phosphorylated proteins, thereby promoting their ubiquitination and subsequent degradation.

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The coiled-coil domain is a structural motif found in proteins that are involved in a diverse array of biological functions such as the regulation of gene expression, cell division, membrane fusion and drug extrusion and delivery. CCDC58 (coiled-coil domain containing 58) is a 144 amino acid protein that is encoded by a gene that maps to human chromosome 3q21.1. Chromosome 3 is made up of about 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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Epstein-Barr virus (EBV) nuclear antigen 1 (EBNA1) is the one EBV antigen that is expressed in all EBV associated malignancies. It has long been thought to go undetected by the cell mediated immune system. However, recent studies show that EBNA1 can be presented to both CD4+ and CD8+ T cells, making it a potential new target for immunotherapy of EBV related cancers.

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BEND5

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Regulates RHOA activity, and plays a role in cytoskeleton remodeling. Necessary for normal completion of cytokinesis. Plays a role in maintaining normal diacylglycerol levels in the Golgi apparatus. Binds phosphatidyl inositol phosphates (in vitro). May catalyze the transfer of phosphatidylinositol and phosphatidylcholine between membranes (By similarity). Necessary for maintaining the normal structure of the endoplasmic reticulum and the Golgi apparatus. Required for protein export from the endoplasmic reticulum and the Golgi. Binds calcium ions.

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CCDC25 is a 208 amino acid protein encoded by a gene that maps to human chromosome 8p21.1. Made up of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.

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Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes can lead to severe genetic diseases, such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKRD13B (ankyrin repeat domain 13B) is a 626 amino acid protein that contains two ANK repeats and three ubiquitin-interacting motif (UIM) repeats. Conserved in dog, cow, mouse and rat, ANKRD13B exists as two alternatively spliced isoforms. The gene that encodes ANKRD13B maps to human chromosome 17, which makes up over 2.5% of the human genome, with about 81 million bases encoding over 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. BRCA1 is recognized as a genetic determinant of early onset breast cancer. Chromosome 17 is also linked to neurofibromatosis, dysregulated Schwann cell growth, Alexander disease, Birt-Hogg-Dube syndrome and Canavan disease.

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C16orf44 is a 616 amino acid protein that contains six Kelch repeats, one BTB/POZ domain and one BTB/Kelch associated (BACK) domain. C16orf44 is believed to play a role in protein ubiquitination and may function as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex. E3 ligases accept a ubiquitin residue from an E2 ubiquitin-conjugating enzyme and immediately transfer that residue to a protein that is targeted for degradation. Specifically, C16orf44 interacts with CUL-3, a member of the cullin family of mediators that participate in the selective targeting of proteins for ubiquitin-mediated proteolysis. Due to alternative splicing events, two isoforms of C16orf44 are expressed.

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GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.

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CTHRC1 is a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcript variants have been described.

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May regulate transport of alpha4-beta2 neuronal acetylcholine receptor.

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The Golgi complex is a key organelle where processing and sorting of newly synthesized proteins occurs. Membrane traffic from the endoplasmic reticulum (ER) to the Golgi complex and from the Golgi complex to the different final cellular destinations is believed to be mediated by carrier vesicles. Two populations of coated vesicles mediate biosynthetic membrane traffic between the different membrane-bound compartments. Clathrin-coated vesicles carry proteins to endocytic organelles and secretory granules, whilst non-clathrin-coated vesicles are involved in intra-Golgi transport and transport from the ER to the Golgi complex. Beta COP is a member of a set of protein which are believed to associate with the non-clathrin coated vesicles. Golgi-derived non-clathrin-coated vesicles are believed to act as bulk carriers, whereas clathrin-coated vesicles carry a selective cargo of membrane proteins.

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Carboxypeptidase A2 (CPA2) is one of three different isoforms of human pancreatic carboxypeptidase A. Carboxypeptidase A2 acts on aromatic C-terminal residues.

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CLASP2 is a microtubule plus end tracking protein that promotes the stabilization of dynamic microtubules and is required for the polarization of the cytoplasmic microtubule arrays in migrating cells towards the leading edge of the cell. CLASP2 may act at the cell cortex to enhance the frequency of rescue of depolymerizing microtubules by attaching their plus ends to cortical platforms composed of ERC1 and PHLDB2. This cortical microtubule stabilizing activity is regulated at least in part by phosphatidylinositol 3 kinase signaling. CLASP2 also performs a similar stabilizing function at the kinetochore which is essential for the bipolar alignment of chromosomes on the mitotic spindle.

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Spindly/CCDC99

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Pancreatic lipase, is involved in the hydrolysis of dietary triglycerides to fatty acids in the intestine. This hydrolysis, which is initiated in the stomach by gastric lipase, is essential for the intestinal absorption of long-chain triglyceride fatty acids.

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ZNF217 (Zinc-finger protein 217) is a Kruppel-like zinc-finger protein which functions as a transcriptional repressor protein and forms a complex with a number of proteins including CoREST, BHC110/LSD1, HDAC2 and CtBP1. ZNF217 has been shown to repress E-cadherin promoter activity. ZNF217 is overexpressed in a number of cancers including breast and ovarian. ZNF217 and its associated proteins have been implicated in a novel pathway that is involved in cancer progression.

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Acts as an E3 ubiquitin-protein ligase. Promotes SMAD4 ubiquitination, nuclear exclusion and degradation via the ubiquitin proteasome pathway. According to PubMed:16751102, does not promote a decrease in the level of endogenous SMAD4. May act as a transcriptional repressor. Inhibits the transcriptional response to TGF-beta/BMP signaling cascade. Plays a role in the control of cell proliferation. Its association with SMAD2 and SMAD3 stimulates erythroid differentiation of hematopoietic stem/progenitor (By similarity). Monoubiquitinates SMAD4 and acts as an inhibitor of SMAD4-dependent TGF-beta/BMP signaling cascade (Monoubiquitination of SMAD4 hampers its ability to form a stable complex with activated SMAD2/3 resulting in inhibition of TGF-beta/BMP signaling cascade).

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Mycobacterium bovis

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Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

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DNA repair enzyme that can remove a variety of covalent adducts from DNA through hydrolysis of a 5'-phosphodiester bond, giving rise to DNA with a free 5' phosphate. Catalyzes the hydrolysis of dead-end complexes between DNA and the topoisomerase 2 (TOP2) active site tyrosine residue. Hydrolyzes 5'-phosphoglycolates on protruding 5' ends on DNA double-strand breaks (DSBs) due to DNA damage by radiation and free radicals. The 5'-tyrosyl DNA phosphodiesterase activity can enable the repair of TOP2-induced DSBs without the need for nuclease activity, creating a 'clean' DSB with 5'-phosphate termini that are ready for ligation. Has also 3'-tyrosyl DNA phosphodiesterase activity, but less efficiently and much slower than TDP1. May also act as a negative regulator of ETS1 and may inhibit nuclear factor-kappa-B activation.

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Talin, a multifunctional constituent of cell-substratum attachment sites, is a high molecular weight protein (225-270 kDa) found in variety of tissues and cell types. It is localized at a subset of adherens junctions, specialized cell-cell and cell-matrix associations that are characterized by the presence of filamentous actin at the cytoplasmic face of the junctional complex. In cultured cells, talin is absent from cell-cell junctions and found predominantly at adhesion plaques and in fibrillar streaks underlying cell surface fibronectin. Talin interacts with at least two other proteins that are localized at adhesion plaques, vinculin and integrin. Talin and vinculin have been shown to interact with each other and both have been proposed to be involved in generating the transmembrane connection, between the extracellular matrix and the cytoskeleton, that occurs at adhesion plaques. At physiological ionic strength, talin is an elongate, flexible, monomeric protein with the ability to self-associate into dimers at higher protein concentrations.

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Claudin 6 is a multipass transmembrane protein in the Claudin family. Claudin 6 is expressed by epithelial cells where it participates in tissue development and the maintenance of tight junction integrity. Claudin 6 is also a global marker of definitive endoderm. Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3.

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The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase dephosphorylates, and negatively regulates the activities of, MAP kinases and MAP kinase kinases. It has been shown to inhibit the activation of p38 and JNK kinase cascades induced by environmental stresses. This phosphatase can also dephosphorylate cyclin-dependent kinases, and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to activate the expression of the tumor suppressor gene TP53/p53, which leads to G2/M cell cycle arrest and apoptosis. Three alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008].

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Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. In the RAG complex, RAG1 mediates the DNA-binding to the conserved recombination signal sequences (RSS) and catalyzes the DNA cleavage activities by introducing a double-strand break between the RSS and the adjacent coding segment. RAG2 is not a catalytic component but is required for all known catalytic activities. DNA cleavage occurs in 2 steps: a first nick is introduced in the top strand immediately upstream of the heptamer, generating a 3'-hydroxyl group that can attack the phosphodiester bond on the opposite strand in a direct transesterification reaction, thereby creating 4 DNA ends: 2 hairpin coding ends and 2 blunt, 5'-phosphorylated ends. The chromatin structure plays an essential role in the V(D)J recombination reactions and the presence of histone H3 trimethylated at 'Lys-4' (H3K4me3) stimulates both the nicking and haipinning steps. The RAG complex also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B lymphocytes. The introduction of DNA breaks by the RAG complex on one immunoglobulin allele induces ATM-dependent repositioning of the other allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. In addition to its endonuclease activity, RAG1 also acts as a E3 ubiquitin-protein ligase that mediates monoubiquitination of histone H3. Histone H3 monoubiquitination is required for the joining step of V(D)J recombination.

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Palmitoylates sex steroid hormone receptors, including ESR1, PGR and AR, thereby regulating their targeting to the plasma membrane. This affects rapid intracellular signaling by sex hormones via ERK and AKT kinases and the generation of cAMP, but does not affect that mediated by their nuclear receptor (By similarity).