"Bioss"

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Human Rad1 is a component of a heterotrimeric PCNA like complex that also contains the Rad9 and Hus1 proteins. This complex is believed to be involved in cellular responses to DNA damage, possibly by associating with Rad17 and several components of the PCNA-loading heteropentamer, replication factor C. Human Rad1 exhibits significant homology to Rad1 from S. pombe, and its expression in yeast rad1 mutants has been shown to partially restore radiation resistance and G2 checkpoint activity. It has also been shown to possess exonuclease activity.

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Crystallins are separated into two classes:taxon-specific, or enzyme, and ubiquitous. The latter classconstitutes the major proteins of vertebrate eye lens and maintainsthe transparency and refractive index of the lens. Since lenscentral fiber cells lose their nuclei during development, thesecrystallins are made and then retained throughout life, making themextremely stable proteins. Mammalian lens crystallins are dividedinto alpha, beta, and gamma families; beta and gamma crystallinsare also considered as a superfamily. Alpha and beta families arefurther divided into acidic and basic groups. Seven protein regionsexist in crystallins: four homologous motifs, a connecting peptide,and N- and C-terminal extensions. Gamma-crystallins are ahomogeneous group of highly symmetrical, monomeric proteinstypically lacking connecting peptides and terminal extensions. Theyare differentially regulated after early development. This geneencodes a protein initially considered to be a beta-crystallin butthe encoded protein is monomeric and has greater sequencesimilarity to other gamma-crystallins. This gene encodes the mostsignificant gamma-crystallin in adult eye lens tissue. Whether dueto aging or mutations in specific genes, gamma-crystallins havebeen involved in cataract formation. [provided by RefSeq, Jul2008].

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Ataxin-1, also designated spinocerebellar ataxia type 1 protein (Sca-1), is differentially expressed and localizes to both the cytoplasm and the nucleus. Mutations in Ataxin-1 are associated with the onset of the autosomal dominant neurodegenerative disorder spinocerebellar ataxia type 1 (SCA-1), which is characterized by progressive neuronal loss in the cerebellum, muscle wasting and ataxia. In Purkinje cells, where SCA-1 is predominantly observed, Ataxin-1 has been shown to directly associate with the Purkinje-enriched leucine-rich acidic nuclear protein (LANP) and the nuclear matrix-associated protein promyelocytic leukemia protein PML. In SCA-1, Ataxin-1 is mutated to encode a polyglutamine protein that forms nuclear aggregates, which interact significantly more strongly with LANP and contribute to the pathogenesis of SCA-1.

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THAP1 contains a THAP domain, a zinc-dependent DNA-binding domain. It colocalises with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies and is a pro-apoptopic protein that potentiates both serum-withdrawal and TNF-induced apoptosis. It is a physiologic regulator of endothelial cell proliferation and cell-cycle progression, two essential processes for angiogenesis.

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Linker for activation of T cells (LAT) is an integral membrane protein (36 to 38 kD), which plays an important role in linking engagement of the TCR to the biochemical events of T cell activation. LAT antibody stains thymus and peripheral lymphoid tissues such as T cell areas in lymph nodes and spleen. LAT is expressed in T lymphocytes in interstitial spaces, platelets and megakaryocytes. LAT is not expressed in B cells, macrophages, plasma cells, monocytes, epithelial histiocytes and dendritic cells.

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Seems to play a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Seems to demarcate the paranodal region of the axo-glial junction. In association with contactin may have a role in the signaling between axons and myelinating glial cells.

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HBXIP (Hepatitis B virus X interacting protein) complexes with the C-terminus of hepatitis B virus X protein (HBx) and down-regulates hepatitis B virus (HBV) replication. When complexed to BIRC5, it interferes with apoptosome assembly, preventing recruitment of pro-caspase-9 to oligomerized APAF1, thereby selectively suppressing apoptosis initiated via the mitochondrial/cytochrome c pathway.

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NUSAP1 is a microtubule-associated protein with the capacity to bundle and stabilize microtubules. It may associate with chromosomes and promote the organization of mitotic spindle microtubules around them. There are five different isoforms.

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Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'- and 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. Participates in the regulation of transepithelial sodium transport in renal cells. May be involved in cell growth arrest.

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The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq].

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Receptor that mediates the recognition, internalization and degradation of oxidatively modified low density lipoprotein (oxLDL) by vascular endothelial cells. OxLDL is a marker of atherosclerosis that induces vascular endothelial cell activation and dysfunction, resulting in pro-inflammatory responses, pro-oxidative conditions and apoptosis. Its association with oxLDL induces the activation of NF-kappa-B through an increased production of intracellular reactive oxygen and a variety of pro-atherogenic cellular responses including a reduction of nitric oxide (NO) release, monocyte adhesion and apoptosis. In addition to binding oxLDL, it acts as a receptor for the HSP70 protein involved in antigen cross-presentation to naive T-cells in dendritic cells, thereby participating in cell-mediated antigen cross-presentation. Also involved in inflammatory process, by acting as a leukocyte-adhesion molecule at the vascular interface in endotoxin-induced inflammation. Also acts as a receptor for advanced glycation end (AGE) products, activated platelets, monocytes, apoptotic cells and both Gram-negative and Gram-positive bacteria.

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Membrane microdomains known as lipid rafts are implicated in B-cell activation during B-cell receptor (BCR) signal initiation. Raftlin-2, also designated RFTN2 (raftlin family member 2) or raft-linking protein 2, is a 501 amino acid cell membrane protein that is essential for raft cell assembly and maintenance. A lipid anchor protein, Raftlin-2 belongs to the raftlin family and is encoded by a gene that maps to human chromosome 2q33.1 and mouse chromosome 1 C1.2. Human chromosome 2 is the second largest human chromosome, which consists of 237 million bases, encodes over 1,400 genes and makes up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstré°‰ syndrome is due to mutations in the ALMS1 gene.

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RPUSD2, is a 545 amino acid member of the pseudouridine synthase rluA family and is encoded by a gene that is located on chromosome 15. Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and is about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. In the case of Angelman syndrome, this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation. In cases of Prader-Willi syndrome, there is a partial or complete deletion of this region from the paternal copy of chromosome 15. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene.

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May be involved in macrophage lipid homeostasis.

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Fibronectins are multi-domain glycoproteins that bind to a variety of substances including collagen, actin, heparin, DNA, fibrin and fibronectin receptors. They are involved in a diverse array of important functions such as blood coagulation, wound healing, cell adhesion, cell differentiation and migration. FNDC4 (Fibronectin type III domain-containing protein 4), also known as FRCP1 (Fibronectin type III repeat-containing protein 1), is a 234 amino acid membrane protein that contains one fibronectin type-III domain, which serves as a binding site for DNA, heparin or the cell surface. The gene encoding FNDC4 is localized to human chromosome two, which houses over 1,400 genes and comprises nearly 8% of the human genome.

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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.