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AIP1 (ASK-interacting protein 1), also known as DAB2IP (DAB2 interacting protein), is a 1,189 amino acid protein that localizes to both the membrane and the cytoplasm and contains one Ras-GAP domain, one PH domain and one C2 domain. Expressed at low levels in prostate tissue, AIP1 functions as a Ras GTPase-activating protein that interacts with ASK 1 and, via this interaction, disrupts the association of ASK 1 with an inhibitory 14-3-3 complex, thereby allowing free ASK 1 to function within the cell. AIP1 exists as multiple alternatively spliced isoforms and is down-regulated in prostate cancer tissue, suggesting a role in tumor suppression. Chromosomal aberrations in the gene encoding AIP1 are associated with acute myeloid leukemia (AML), implicating a role for AIP1 fusion proteins in tumorigenesis.

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FMR2 is a 1311 amino acid nuclear protein belonging to the AF4 family. Expressed in the brain, placenta and lung, FMR2 exists as two isoforms produced by alternative splicing. Defects in the gene that encodes FMR2 have been found to be a cause of FRAXE, an X-linked form of mental retardation. Individuals expressing the FRAXE site also have more than two-hundred copies of a GCC repeat adjacent to CpG island, compared to six to thirty-five copies of the GCC repeat in a normal individual. It is believed that loss of FMR2 expression causes this GCC expansion of the FRAXE site.

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Microtubules, the primary component of the cytoskeletal network, are highly dynamic structures composed of Alpha/Beta Tubulin heterodimers. Biosynthesis of functional microtubules involve the participation of several chaperones, termed Tubulin folding cofactors A (TBCA), B (TBCB), D (TBCD), E (TBCE) and C (TBCC), that act on folding intermediates downstream of the cytosolic chaperon, alternatively named TCP. TBCB (tubulin folding cofactor B), also known as CG22, CKAP1 or CKAPI, is a 244 amino acid cytoplasmic protein containing one CAP-Gly domain and in widely expressed. TBCB is involved in the regulation of tubulin heterodimer dissociation and may function as a negative regulator of axonal growth.

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Phosphatidylserine receptor that enhances the engulfment of apoptotic cells. Hyaluronan receptor that binds to and mediates endocytosis of hyaluronic acid (HA). Acts also, in different species, as a primary systemic scavenger receptor for heparin (Hep), chondroitin sulfate (CS), dermatan sulfate (DS), nonglycosaminoglycan (GAG), acetylated low-density lipoprotein (AcLDL), pro-collagen propeptides and advanced glycation end products (AGE). May serve to maintain tissue integrity by supporting extracellular matrix turnover or it may contribute to maintaining fluidity of bodily liquids by resorption of hyaluronan. Counter receptor which plays an important role in lymphocyte recruitment in the hepatic vasculature. Binds to both Gram-positive and Gram-negative bacteria and may play a role in defense against bacterial infection. The proteolytically processed 190 kDa form also functions as an endocytosis receptor for heparin internalisation as well as HA and CS.

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Fibromodulin is a ubiquitous protein that is most prominent in articular cartilage, tendon, and ligament. The human Fibromodulin gene maps to chromosome 1q32 and encodes a 376 amino acid protein.

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Goosecoid is a homeodomain transcription factor with DNA binding specificity identical to that of the anterior morphogen 'bicoid' in Drosophila.During mouse embryogenesis, GSC influences development of the lower mandible and its associated musculature, including the tongue, the nasal cavity, and the nasal pits, as well as components of the inner ear and the external auditory meatus. The GSC gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins.

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Endonuclease which cleaves flap structures at the junction between single-stranded DNA and double-stranded DNA. Specific for 5'-overhanging flap structures in which the 5'-upstream of the flap is completely double-stranded. Prefers the blocked-flap structures similar to those occurring at replication forks, in which the 5' single-strand overhang of the flap is double-stranded.

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Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by loss of motor neurons in the spinal cord. SMA is caused by deletion or loss-of-function mutations in the SMN (Survival of Motor Neuron) gene. Gemin6, the protein product of human chromosome 2p22.2, associates directly with SMN and is a part of the SMN complex containing Gemin2, Gemin3, Gemin4 and Gemin5 as well as several spliceosomal snRNP proteins. The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing of the nucleus. The SMN complex is found in both the cytoplasm and the nucleus. The nuclear form is concentrated in subnuclear bodies called gems (Gemini of the coiled bodies).

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Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells. Promotes differentiation of myogenic cells.

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Anti-GEMIN4 Rabbit Polyclonal Antibody

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Growth factor independent 1 (Gfi-1) is a transcriptional repressor that specifically binds to the DNA consensus sequence TAAATCAC(A/T)GCA. The carboxy-terminus of Gfi-1 contains six C2H2-type zinc finger motifs, and zinc fingers 3, 4 and 5 are required for the binding of Gfi-1 to its DNA binding site. Gfi-1 also contains a 20 amino acid SNAG domain which mediates transcriptional repression. It represses Bax at the mRNA and protein levels, resulting in the inhibition of cell death. Gfi1 is expressed outside the lymphoid system in granulocytes and activated macrophages. Gfi-1B, a related protein, is a transcriptional repressor primarily expressed in bone marrow and spleen. Gfi-1B is a direct repressor of the p21 promoter and the Socs 1 and 3 promoters. The genes encoding human Gfi-1 and Gfi-1B map to chromosome 1p22 and 9q34.3, respectively.

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Vinexin is a 671 amino acid protein that is expressed as two isoforms, designated Vinexin alpha and Vinexin beta. Localized to cell junctions in both the cytoplasm and the cytoskeleton, Vinexin alpha functions to promote Actin stress fiber formation, playing an important role in modification of the Actin cytoskeleton. Like Vinexin alpha, Vinexin beta is localized to cell junctions in the cytoplasm, but is also found in the nucleus where it plays an important role in cell spreading and in activation of the JNK pathway in response to EGF stimulation. Although Vinexin alpha and Vinexin beta have different roles within the cell, both proteins contain three SH3 domains in their carboxy terminus and are expressed in a variety of tissues, including placenta, heart, liver, brain, pancreas and skeletal muscle. Together, Vinexin alpha and Vinexin beta are involved in cell-cell adhesion, signal transduction and cytoskeletal organization throughout the cell.

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Growth arrest specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. It may play a role in neuronal development by promoting maturation and morphological differentiation of cerebellar neurons. Several transcript variants encoding proteins which vary in the N terminus have been described.

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TPX2 is essential for spindle pole and mitotic spindle formulation, playing a role in the S and G2 phases of mitosis. It is also critical for the function of protein kinase Aurora A. TPX2 autophosphorylates Aurora A, targeting it to the spindle apparatus and allowing it to function in eukaryotic meiotic and mitotic cell cycles. TPX2 has also been found to be highly expressed in cancer cells.

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Matrix metalloproteinase 26 preprotein; gelatinase A; 70kD type IV collagenase; gelatinase neutrophil. Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes as well as in disease processes. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. MMP26 degrades type IV collagen, the major structural component of basement membranes. The enzyme plays a role in endometrial menstrual breakdown, regulation of vascularization and the inflammatory response.Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. MMP26, also known as Matrilysin 2, was first cloned from human fetal cells, and identified as an MMP most closely related to MMP7 (Matrilysin 1). The homology between MMP7 and MMP26 is low (only 38% identical), thus the functions are unlikely to be similar. Homology is much higher (48% identical) for the comparable region of MMP12, but MMP26 appears to have broader substrate specificity than does MMP12. MMP26, like MMP7, lacks the hemopexin domain common to the other MMPs, but contains a Propeptide domain, cysteine switch activation site, followed by a catalytic domain, and a short vestige of the hinge region. MMP26 is apparently not glycosylated, and is a secreted MMP. Tissue analysis shows MMP26 most strongly in placenta and uterus, but also in kidney cells, lung cells, lymphocytes and lung or endometrial carcinoma cells. MMP26 is proteolytically active, cleaving casein in zymograms, and gelatin, a1PI, fibrinogen, fibronectin, vitronectin, type IV collagen, and apparently activating MMP9.

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Ghrelin is an endogenous ligand for the growth hormone secretagogue receptor and is involved in regulating growth hormone release. Ghrelin is derived from a preprohormone called preproghrelin, which also generates a second peptide called obestatin. Obestatin is an endogenous ligand for the orphan G protein-coupled receptor GPR39 and is involved in satiety and decreased food intake. Also known as Appetite regulating hormone; GHRL; Growth hormone releasing peptide; Growth hormone secretagogue; M46 protein; Motilin related peptide; MTLRP; Obestatin; Obestatin preprohormone; PRO1066; UNQ524. Sequence notes: Gly-Ser-Ser-Phe-Leu-Ser-Pro- Glu-His-Gln-Lys-Ala-Gln-Gln-Arg-Lys-Glu- Ser-Lys-Lys-Pro-Pro-Ala-Lys-Leu-Gln-Pro- Arg (mo, rat)

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The claudin superfamily consists of many structurally related proteins in humans. These proteins are important structural and functional components of tight junctions in paracellular transport. Claudins are located in both epithelial and endothelial cells in all tight junction-bearing tissues. Three classes of proteins are known to localize to tight junctions, including the claudins, Occludin and Junction adhesion molecules. Claudins, which consist of four transmembrane domains and two extracellular loops, make up tight junction strands. Claudin expression is often highly restricted to specfic regions of different tissues and may have an important role in transcellular transport through tight junctions. Claudin-15 is a 228 amino acid multi-pass membrane protein that belongs to the claudin family and plays an important role in cell-adhesion activity and tight junction-specific events.

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The claudin superfamily consists of many structurally related proteins that are important structural and functional components of tight junctions in paracellular transport. Claudins are located in both epithelial and endothelial cells in all tight junction-bearing tissues. Claudins, which consist of four transmembrane domains and two extracellular loops, make up tight junction strands. It is suggested that the claudin family of proteins regulate transport through tight junctions via differential discrimination for solute size and charge. Claudin expression is often highly restricted to specific regions of different tissues and may have an important role in transcellular transport through tight junctions. Claudin-22, also known as CLDN22, is a 220 amino acid member of the claudin family that participates in tight junction-specific obliteration of the intercellular space through calcium-independent cell-adhesion activity.

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Hydrolase that deubiquitinates target proteins such as FOXO4, p53/TP53, MDM2, ERCC6, DNMT1, UHRF1, PTEN and DAXX. Together with DAXX, prevents MDM2 self-ubiquitination and enhances the E3 ligase activity of MDM2 towards p53/TP53, thereby promoting p53/TP53 ubiquitination and proteasomal degradation. Deubiquitinates p53/TP53 and MDM2 and strongly stabilizes p53/TP53 even in the presence of excess MDM2, and also induces p53/TP53-dependent cell growth repression and apoptosis. Deubiquitination of FOXO4 in presence of hydrogen peroxide is not dependent on p53/TP53 and inhibits FOXO4-induced transcriptional activity. In association with DAXX, is involved in the deubiquitination and translocation of PTEN from the nucleus to the cytoplasm, both processes that are counteracted by PML. Involved in cell proliferation during early embryonic development. Involved in transcription-coupled nucleotide excision repair (TC-NER) in response to UV damage: recruited to DNA damage sites following interaction with KIAA1530/UVSSA and promotes deubiquitination of ERCC6, preventing UV-induced degradation of ERCC6. Contributes to the overall stabilization and trans-activation capability of the herpesvirus 1 trans-acting transcriptional protein ICP0/VMW110 during HSV-1 infection. Involved in maintenance of DNA methylation via its interaction with UHRF1 and DNMT1: acts by mediating deubiquitination of UHRF1 and DNMT1, preventing their degradation and promoting DNA methylation by DNMT1. Exhibits a preference towards 'Lys-48'-linked ubiquitin chains. Increases regulatory T-cells (Treg) suppressive capacity by deubiquitinating and stabilizing the transcription factor FOXP3 which is crucial for Treg cell function (PubMed:23973222).

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HEAB is a 425 amino acid nuclear protein that belongs to the Clp1 family. Utilizing magnesium, manganese or nickel as cofactors, HEAB participates in the phosphorylation of the 5'-hydroxyl groups of double- and single- stranded RNA and DNA. HEAB is a member of the tRNA splicing endonuclease complex, in conjunction with TSEN2, TSEN15, TSEN34 and TSEN54, and is also a member of the pre-mRNA cleavage complex II. The gene encoding HEAB maps to human chromosome 11q12.1 and mouse chromosome 2 D; mutations to this gene may lead to a reduced pre-mRNA cleavage activity. HEAB exists as two isoforms due to alternative splicing events.

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This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008].

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This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009].

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This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein facilitates translocation of a functional guanine nucleotide exchange factor (GEF) complex from the cytoplasm to the plasma membrane where ras-related C3 botulinum toxin substrate 1 is activated to promote lamellipodium formation and cell migration. Two related pseudogene have been identified on chromosomes 20 and X. [provided by RefSeq, Aug 2011].

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Anti-VARS2 Rabbit Polyclonal Antibody

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The phosphorylation of specific tyrosine residues has been shown to be a primary mechanism of signal transduction during normal mitogenesis, cell cycle progression and oncogenic transformation, its role in other areas such as differentiation and gap junction communication, is a matter of active and ongoing research. that specifically recognize phosphorylated tyrosine residues have proved to be invaluable to the study of tyrosine phosphorylated proteins and the biochemical pathways in which they function.

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This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009].

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Anti-SE Rabbit Polyclonal Antibody

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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.

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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 C1orf146 gene product has been provisionally designated C1orf146 pending further characterization.

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 C1orf180 gene product has been provisionally designated C1orf180 pending further characterization.