"Bioss"

Supplier: Bioss

Core component of the CAF-1 complex, a complex thought to mediate chromatin assembly in DNA replication and DNA repair. Assembles histone octamers onto replicating DNA in vitro. CAF-1 performs the first step of the nucleosome assembly process, bringing newly synthesized histones H3 and H4 to replicating DNA; histones H2A/H2B can bind to this chromatin precursor subsequent to DNA replication to complete the histone octamer. CHAF1A binds to histones H3 and H4. It may play a role in heterochromatin maintenance in proliferating cells by bringing newly synthesized cbx proteins to heterochromatic DNA replication foci (By similarity). The CCR4-NOT complex functions as general transcription regulation complex. Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound VDR-mediated transrepression of the CYP27B1 gene.

Supplier: Bioss

TSPEAR, also known as C21orf9, is a 669 amino acid secreted protein. Expressed as two isoforms produced by alternative splicing, TSPEAR contains one Thrombospondin N-terminal domain and seven EAR (epilepsy-associated repeat) domains. EAR domains are found in several proteins, including TSPEAR, encoded by genes that map within chromosome regions associated with seizure disorders. It is thought that the EAR domain plays a role in the pathogenesis of epilepsy by either binding to an unknown epileptic ligand or interfering with axon synaptogenesis.

Supplier: Bioss

A number of specific carrier proteins for members of the vitamin A family have been discovered. Cellular retinoic acid binding proteins (CRABP) are low molecular weight proteins whose precise function remains unknown. The inducibility of the CRABP2 gene suggests that this isoform is important in retinoic acid-mediated regulation of human skin growth and differentiation. It has been postulated that the CRABP2 gene is transcriptionally regulated by a newly synthesised regulatory protein.

Supplier: Bioss

E3 ubiquitin-protein ligase that mediates polyubiquitination of CD4. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May play a role in ubuquitin-dependent protein sorting in developmenting spermatids.

Supplier: Bioss

GIOT-1 is a 563 amino acid protein belonging to the Krüppel C2H2-type zinc-finger protein family. Localized to the nucleus, GIOT-1 is widely expressed in tissues, with highest levels in liver, kidney, small intestine, pancreas and thymus. GIOT-1 contains 12 C2H2-type zinc fincers and one KRAB domain. Because the KRAB domain functions as a transcriptional repressor when attached to the template DNA, GIOT-1 is thought to be involved in transcriptional regulation. The gene encoding GIOT-1 is localized to chromosome 19q13.12 and two isoforms of GIOT-1 exist as a result of alternative splicing events.

Supplier: Bioss

Possible adhesion molecule with a role in early hematopoiesis by mediating the attachment of stem cells to the bone marrow extracellular matrix or directly to stromal cells. Could act as a scaffold for the attachment of lineage specific glycans, allowing stem cells to bind to lectins expressed by stromal cells or other marrow components. Presents carbohydrate ligands to selectins (By similarity).

Supplier: Bioss

The alpha-V integrins are receptors for vitronectin, cytotactin, fibronectin, fibrinogen, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin and vWF. They recognize the sequence R-G-D in a wide array of ligands. In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions.

Supplier: Bioss

May regulate apoptosis, cell proliferation and cell differentiation. Binds beta-galactoside and a wide array of complex carbohydrates. Inhibits CD45 protein phosphatase activity and therefore the dephosphorylation of Lyn kinase. Strong inducer of T-cell apoptosis.

Supplier: Bioss

Converts sphingomyelin to ceramide. Also has phospholipase C activity toward palmitoyl lyso-phosphocholine. Does not appear to have nucleotide pyrophosphatase activity.

Supplier: Bioss

This gene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17. [provided by RefSeq, Jan 2013].

Supplier: Bioss

Dual specificity phosphatase that dephosphorylates MAP kinase MAPK1/ERK2 on both 'Thr-183' and 'Tyr-185', regulating its activity during the meiotic cell cycle.

Supplier: Bioss

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. The C7orf29 gene product has been provisionally designated C7orf29 pending further characterisation.

Supplier: Bioss

The GTPase of the immunity-associated protein (GIMAP) family of proteins include seven members that are expressed by genes residing on human chromosome 7. GIMAP proteins have been implicated in the regulation of lymphomyeloid cell survival. GIMAP7 (GTPase IMAP family member 7), also known as IAN7 (immunity-associated nucleotide 7), is a 300 amino acid protein encoded by a gene that maps to human chromosome 7q36.1. 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 characterized 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

Inhibits glioma cells invasion and down-regulates adhesion- and motility-associated genes such as NFKB2 and ICAM1. Exhibits opposing effects to IGFBP2 on cell invasion.

Supplier: Bioss

Representing about 2% of human DNA, chromosome 20 consists of approximately 63 million bases and 600 genes. Chromosome 20 contains a region with numerous genes expressed in the epididymis, which are thought important for seminal production, and some viewed as potential targets for male contraception. The PRNP gene encoding the prion protein associated with spongiform encephalopathies, like Creutzfeldt-Jakob disease, is found on chromosome 20. Amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome are also associated with chromosome 20. The C20orf7 gene product has been provisionally designated C20orf7 pending further characterization.

Supplier: Bioss

VAV2 is a ubiquitously expressed structural homolog of the VAV protooncogene that is expressed preferentially in hematopoetic cells. Both proteins are comprised of a Dbl homology (DH) domain with guanosine nucleotide exchange (GEF) activity exclusively directed towards Rho/Rac GTPases, a pleckstrin homology (PH) domain, a calponin-homology (CH) region, an acidic domain (AD) a zinc finger butterfly motif, two SH3 regions and one SH2 domain. GEF activity of RhoA family G proteins is induced by tyrosine phosphorylation in wild type VAV2, and is constitutively activated in N terminus deleted oncogene forms. Constitutive expression of a VAV2 oncoprotein may result in morphological alterations including highly enlarged cells in which karyokinesis and cytokinesis frequently are uncoupled.