"Bioss"

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May play a role in mediating neutrophil activation and chemotaxis. This gene encodes an intracellular F-actin binding protein. The protein is expressed in lymphocytes, neutrophils, macrophages, and endothelium and may regulate neutrophil motility, adhesion to fibrinogen matrix proteins, and transendothelial migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Supplier: Bioss

PLEKHM3 (pleckstrin homology domain containing, family M, member 3), also known as DAPR or PLEKHM1L (pleckstrin homology domain containing, family M, member 1-like), is a 761 amino acid phosphoprotein that contains two pleckstrin homology (PH) domains and one phorbol-ester/DAG-type zinc finger. Conserved in chimpanzee, dog, cow, mouse, rat, chicken and zebrafish, PLEKHM3 exists as three alternatively spliced isoforms that participate in metal ion binding. The gene that encodes PLEKHM3 maps to human chromosome 2q33.3. As the second largest human chromosome, chromosome 2 makes up approximately 8% of the human genome and contains 237 million bases encoding over 1,400 genes. Chromosome 2 contains a probable vestigial second centromere, as well as vestigial telomeres, which gives credence to the hypothesis that human chromosome 2 formed as a result of an ancient fusion of two ancestral chromosomes, which are still present in modern day apes.

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Serum response factor (SRF) is a transcription factor that binds the serum response element (SRE), a sequence that mediates the transient response of many cellular genes to growth stimulation. SRF-binding sites are also constitutive promoter elements in many muscle-specific promoters. At the c-Fos SRE, formation of a ternary complex containing SRF and its accessory protein p62TCF appears to be important for signal transduction. Two related Ets domain proteins, Elk-1 and SRF accessory protein-1 (SAP-1), have DNA binding properties identical to that of p62TCF. Elk-1 and SAP-1 contain two homologous regions of which the two amino terminal regions, the Ets domain (box A) and the B box, mediate ternary complex formation with SRF. The third homologous region, the C box located toward the C-terminus of the proteins, contains conserved consensus phosphorylation sites for MAP kinases.

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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).

Supplier: Bioss

ANXA9 may act as a low affinity receptor for acetylcholine and is expressed in the stratified squamous skin epithelium, but not in epithelia of other types (at protein level). ANXA9 is one of the target molecules recognized by auto in patients with pemphigus vulgaris, a rare, autoimmune skin disease in which epidermal blisters occur as the result of the loss of cell-cell adhesion.

Supplier: Bioss

DEPTOR (DEP domain containing MTOR-interacting protein), also known as DEP.6 or DEPDC6 (DEP domain-containing protein 6), is a 409 amino acid protein that negatively regulates mTORC1 and mTORC2 pathways. DEPTOR interacts with FRAP via its PDZ domain, and undergoes post-translational phosphorylation. Containing two DEP domains and one PDZ (DHR) domain, DEPTOR is encoded by a gene that maps to human chromosome 8q24.12. Chromosome 8 consists of nearly 146 million base pairs, encodes over 800 genes and is associated with a variety of diseases and malignancies. Schizophrenia, bipolar disorder, Trisomy 8, Pfeiffer syndrome, congenital hypothyroidism, Waardenburg syndrome and some leukemias and lymphomas are thought to occur as a result of defects in specific genes that map to chromosome 8.

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C7orf12

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EMP-2 is a 167 amino acid multi-pass membrane protein that contains four-transmembrane domains and belongs to the GAS3/PMP22 (growth arrest-specific-3/peripheral myelin protein-22) family. Localized to lipid raft domains in the plasma membrane, EMP-2 regulates the expression of several target proteins and is necessary for blastocyst implantation in the uterine endometrium. Specifically, EMP-2 mediates blastocyst implantation by controlling the cell membrane expression of MHC and glycosylphosphatidylinositol-anchored proteins, as well as Integrins and caveolin-1. In adult tissues, EMP-2 is expressed in heart, lung, ovary and intestine, while fetal expression is highest in kidney, brain and liver. Overexpression of EMP-2 is associated with endometrial adenocarcinoma, suggesting a possible role for EMP-2 in tumorigenesis.

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Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.

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Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development. Involved in bone morphogenetic protein (BMP)-mediated induction of cardiac-specific gene expression. Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions. Acts as a transcriptional activator of ANF in cooperation with NKX2-5. Promotes cardiac myocyte enlargement. Required during testicular development.

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Anti-Nucleoporin p62 Rabbit Polyclonal Antibody

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DHRS1 (dehydrogenase/reductase (SDR family) member 1), also known as SDR19C1, is a 313 amino acid protein that belongs to the short-chain dehydrogenases/reductases (SDR) family and likely functions as an oxidoreductase. Abundantly expressed in heart and liver, DHRS1 contains an SDR motif and is encoded by a gene that maps to human chromosome 14q12. Human chromosome 14 houses over 700 genes and comprises nearly 3.5% of the human genome. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease (AD). The SERPINA1 gene is also located on chromosome 14 and, when defective, leads to the genetic disorder ?-antitrypsin deficiency, which is characterized by severe lung complications and liver dysfunction.

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Chromosome 16 encodes over 900 genes in approximately 90 million base pairs, makes up nearly 3% of human cellular DNA and is associated with a variety of genetic disorders. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, though through the CREBBP gene which encodes a critical CREB binding protein. Signs of Rubinstein-Taybi include mental retardation and predisposition to tumor growth and white blood cell neoplasias. Crohn's disease is a gastrointestinal inflammatory condition associated with chromosome 16 through the NOD2 gene. An association with systemic lupus erythematosis and a number of other autoimmune disorders with the pericentromeric region of chromosome 16 has led to the identification of SLC5A11 as a potential autoimmune modifier. alternatively splicing events.

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SCA11 is a 1,244 amino acid protein that belongs to the protein kinase superfamily and the CK1 Ser/Thr protein kinase family. The SCA11 gene, comprising of 16 exons, produces a 5.6-kb transcript in which the longest open reading frame is 3,732 nucleotides. Defects in the SCA11 protein are the cause of the disorder spinocerebellar ataxia type 11 (SCA11). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. The SCA11 disorder is an autosomal dominant cerebellar ataxia (ADCA). It is a relatively benign, late-onset, slowly progressive neurologic disorder. The SCA11 protein has also been implicated in Alzheimer disease and in tangle formation. Existing as three alternatively spliced isoforms, the SCA11 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken and zebrafish, and maps to human chromosome 15q15.2.

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The protein encoded by this gene is an NADPH-dependent retinal reductase and a short-chain dehydrogenase/reductase. The encoded protein has no steroid dehydrogenase activity.

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DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which exhibits RNA-dependent ATPase and ATP-dependent RNA-unwinding activities. This protein is recruited to the cytoplasmic fibrils of the nuclear pore complex, where it participates in the export of mRNA from the nucleus. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].