33233 Results for: "Eosin+Y&pageNo=68"

Supplier: Bioss

Sox genes comprise a family of genes that are related to the mammalian sex determining gene SRY. These genes similarly contain sequences that encode for the HMG-box domain, which is responsible for the sequence-specific DNA-binding activity. Sox genes encode putative transcriptional regulators implicated in the decision of cell fates during development and the control of diverse developmental processes. The highly complex group of Sox genes cluster at least 40 different loci that rapidly diverged in various animal lineages. At present, 30 Sox genes have been identified. Members of this family have been shown to be conserved during evolution and to play key roles during animal development. Some are involved in human diseases, including sex reversal.

Supplier: Bioss

Involved in osteopontin/bone sialoprotein dephosphorylation. Its expression seems to increase in certain pathological states such as Gaucher and Hodgkin diseases, the hairy cell, the B-cell, and the T-cell leukemias.

Supplier: Bioss

A chromosomal aberration involving MLLT10 is associated with acute leukaemias. 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.

Supplier: Bioss

RNF121 protein contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. Three of them are supported by at least two independent transcripts or ESTs, the full length natures of others are not clear.

Supplier: Bioss

HEATR5A.

Supplier: Bioss

Advillin is an 819 amino acid protein that localizes to both the cytoplasm and the cytoskeleton and contains one HP domain and six gelsolin-like repeats. Expressed at high levels in colon and small intestine and at lower levels in uterus, thymus, testis and prostate, advillin functions as a calcium-regulated Actin-binding protein that may be involved in the development of neuronal cells, specifically those that form ganglia. The gene encoding advillin maps to human chromosome 12, which encodes over 1100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and Trisomy 12p, which causes facial developmental defects and seizure disorders.

Supplier: Bioss

Transcription factors, OTX1 and OTX2, are two murine homologs of the Drosophila orthodenticle (OTD), show a limited amino acid sequence divergence. OTX1 and OTX2 play an important role during early and later events required for proper brain development in that they are involved in the processes of induction, specification and regionalization of the brain. OTX1 is involved in corticogenesis, sensory organ development and pituitary functions, while OTX2 is necessary earlier in development, for the correct anterior neural plate specification and organization of the primitive streak. OTX2 is also required in the early specification of the neuroectoderm, which is destined to become the fore-midbrain, and both OTX1 and OTX2 co-operate in patterning the developing brain through a dosage-dependent mechanism. A molecular mechanism depending on a precise threshold of OTX proteins is necessary for the correct positioning of the isthmic region and for anterior brain patterning. The genes which encode OTX1 and OTX2 map to human chromosomes 2p13 and 14q21-q22, respectively.

Supplier: Bioss

This gene encodes a member of the human ARF gene family, which is part of the RAS superfamily. The ARF genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The product of this gene is localised to the plasma membrane, and regulates vesicular trafficking, remodelling of membrane lipids, and signaling pathways that lead to actin remodelling. A pseudogene of this gene is located on chromosome 7.

Supplier: Bioss

Regulatory subunit of the condensin-2 complex, a complex which establishes mitotic chromosome architecture and is involved in physical rigidity of the chromatid axis.

Supplier: Bioss

CDCA3 (Cell division cycle associated 3) is an F-box-like protein which is required for entry into mitosis. It is associated with SKP1 as part of a SCF (SKP1-cullin-F-box) protein ligase complex, and is required for the ubiquitination and degradation of the CDK1 inhibitory tyrosine kinase WEE1 at G2/M phase.

Supplier: Bioss

ANKRD13A.

Supplier: Bioss

GABARAPL1 belongs to the MAP1 LC3 family. It increases cell surface expression of kappa type opioid receptor through facilitating anterograde intracellular trafficking of the receptor.

Supplier: Bioss

Facilitates tyrosination of alpha-tubulin in neuronal microtubules (By similarity). Phosphorylated MAP1B may play a role in the cytoskeletal changes that accompany neurite extension. Possibly MAP1B binds to at least two tubulin subunits in the polymer, and this bridging of subunits might be involved in nucleating microtubule polymerization and in stabilizing microtubules. Acts as a positive cofactor in DAPK1-mediated autophagic vesicle formation and membrane blebbing.

Supplier: Bioss

The exact function of SDCCAG8 remains unknown. It is expressed in thymus, prostate, testis, ovary, small intestine, colon, mucosa, colon and renal cancer tumors.

Supplier: Bioss

This gene encodes a transmembrane Signalling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene.

Supplier: Bioss

Associates with the spliceosome late in the splicing pathway and may function in the second step of pre-mRNA splicing.

Supplier: Bioss

Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia.

Supplier: Bioss

The tetratricopeptide repeat (TPR) motif is a degenerate, 34 amino acid sequence found in many proteins and acts to mediate protein-protein interactions in various pathways. At the sequence level, there can be up to 16 tandem TPR repeats, each of which has a helix-turn-helix shape that stacks on other TPR repeats to achieve ligand binding specificity. EDRF1 (erythroid differentiation-related factor 1), also known as C10orf137 (chromosome 10 open reading frame 137), is a 1238 amino acid protein containing two TPR repeats. Localizing to nucleus, EDRF1 is involved in transcriptional activation of globin genes by regulating DNA-binding activity of GATA-1 transcription factor. EDRF1 may also play an important role in organ development and histological differentiation. EDRF1 exists as four alternatively spliced isoforms and is encoded by a gene mapping to human chromosome 10q26.13.

Supplier: Bioss

HHCM is a 467 amino acid protein that has oncogenic transforming capabilities on a variety of different cell lines. When HHCM was transfected into BRL-1 (Buffalo rat liver) or NIH3T3 cells, the cells exhibited significant morphological changes, anchorage independent growth and loss of contact inhibition. When the cells were inoculated into rats and mice, they became highly tumorigenic. HHCM gene-related DNA sequences were found in at least nineteen hepatomas of Asian origin. The gene encoding HHCM maps to human chromosome 8, which is made up of nearly 146 million bases and 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 are typically associated with a poor prognosis.

Supplier: Bioss

SIPA1L2.

Supplier: Bioss

Chromosome 7 is about 158 milllion bases long, encodes over 1000 genes and makes up about 5% of the human genome. Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterised by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia.

Supplier: Bioss

C22orf32

Supplier: Bioss

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.

Supplier: Bioss

Crkl is a 34kDa adaptor protein which has been shown to activate the RAS and JUN kinase signalling pathways and transforms fibroblasts in a RAS dependant manner. Crkl is a substitute of BCR ABL tyrosine kinase. In addition, Crkl has oncogenic potential.

Supplier: Bioss

Together with dynein may be involved in spindle assembly and cytokinesis.Tissue specificity:Ubiquitously expressed. Highly expressed in muscle and pancreas and detected at lower levels in brain.

Supplier: Bioss

Zinc-finger proteins contain DNA-binding domains and have a wide variety of functions, most of which encompass some form of transcriptional activation or repression. The majority of Zinc-finger proteins contain a Kr_ppel-type DNA binding domain and a KRAB domain, which is thought to interact with KAP1, thereby recruiting histone modifying proteins. HIC-2 (hypermethylated in cancer 2) possesses Zinc finger motifs that are thought to be important for DNA-binding and also has a BTB/POZ domain at the N-terminus, which is thought to be important for protein-protein binding, as well as for the binding of transcription factors. HIC-2 is also known as Hic-3, HIC1-related gene on chromosome 22 or Zinc finger and BTB domain-containing protein 30, and is a 615 amino acid protein that is expressed as two isoforms produced by alternative splicing. HIC-2 is highly expressed in cerebellum and is localised to the nucleus in cells. HIC-2 contains a short amino acid sequence that is thought to interact with CtBP, a transcriptional repressor. The gene sequence associated with HIC-2 is thought to be a target for miRNAs (microRNAs) which are expressed in many cancers, suggesting that HIC-2 could possess tumor suppressor capabilities.

Supplier: Bioss

The exact function of C2orf42 remains unknown.

Supplier: Bioss

This gene expresses a paternally imprinted antisense transcript of the insulin-like growth factor 2 gene. The transcript is overexpressed in Wilms' tumor. This gene is predicted to be non-coding because the predicted protein is not conserved in any other species and the majority of transcripts would be candidates for non-sense mediated decay (NMD) if a protein were expressed. Alternative splicing results in multiple transcript variants.

Supplier: Bioss

IFT81.

Supplier: Bioss

Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf156 gene product has been provisionally designated C1orf156 pending further characterization.