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Catalog Number: (10670-618)

Supplier: Bioss

Description: GTPase-activating protein (GAP) promoting GTP hydrolysis on RHOA, CDC42 and RAC1 small GTPases. May be involved in the differentiation of neuronal cells during the formation of neurite extensions. Involved in NMDA receptor activity-dependent actin reorganization in dendritic spines. May mediate cross-talks between Ras- and Rho-regulated signaling pathways in cell growth regulation. Isoform 2 has higher GAP activity (By similarity).

Catalog Number: (10670-608)

Supplier: Bioss

Description: ANKRD17 is a 2,603 amino acid protein that contains 25 ankyrin repeats and one KH domain. ANKRD17 is expressed in bone marrow and is thought to be involved in liver development. ANKRD17 localizes to the cytoplasm and the nucleus. ANKRD17 exists as five alternatively spliced isoforms that are encoded by a gene which maps to human chromosome 4. Representing approximately 6% of the human genome, chromosome 4 contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease. Chromosome 4 reportedly contains the largest gene deserts (regions of the genome with no protein encoding genes) and has one of the two lowest recombination frequencies of the human chromosomes.

Catalog Number: (10670-616)

Supplier: Bioss

Description: ANKRD17 is a 2,603 amino acid protein that contains 25 ankyrin repeats and one KH domain. ANKRD17 is expressed in bone marrow and is thought to be involved in liver development. ANKRD17 localizes to the cytoplasm and the nucleus. ANKRD17 exists as five alternatively spliced isoforms that are encoded by a gene which maps to human chromosome 4. Representing approximately 6% of the human genome, chromosome 4 contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease. Chromosome 4 reportedly contains the largest gene deserts (regions of the genome with no protein encoding genes) and has one of the two lowest recombination frequencies of the human chromosomes.

Catalog Number: (10670-640)

Supplier: Bioss

Description: Nucleolin is the major nucleolar protein of growing eukaryotic cells. It is found associated with intranucleolar chromatin and pre-ribosomal particles. It induces chromatin decondensation by binding to histone H1. It is thought to play a role in pre-rRNA transcription and ribosome assembly. May play a role in the process of transcriptional elongation. Binds RNA oligonucleotides with 5'-UUAGGG-3' repeats more tightly than the telomeric single-stranded DNA 5'-TTAGGG-3' repeats.

Catalog Number: (10666-854)

Supplier: Bioss

Description: FBXO4 is a substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. It probably recognizes and binds to phosphorylated target proteins. It recognizes TERF1 and promotes its ubiquitination together with UBE2D1.

Catalog Number: (10666-906)

Supplier: Bioss

Description: Members of the F-box protein family, such as FBXO27, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1, cullin (CUL1), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains.

Catalog Number: (10666-810)

Supplier: Bioss

Description: Belonging to the F-box family of proteins, FBXO35 (F-box only protein 35), also designated F-box and WD-40 domain-containing protein 12 (FBXW12 or FBXO12), is a 464 amino acid protein that contains one C-terminal F-box domain. F-box proteins are critical components of the SCF (Skp1-CUL-1-F-box protein)-type E3 ubiquitin ligase complex and are involved in substrate recognition and recruitment for ubiquitination. They are members of a larger family of proteins that are involved in the regulation of a wide variety of cellular mechanisms, including the cell cycle, the immune response, signaling cascades and developmental processes. They function by targeting proteins, such as cyclins, cyclin-dependent kinase inhibitors, I˚B-å and ∫-catenin, for degradation by the proteasome after ubiquitination. Via its F-box domain, FBXO35 can directly interact with Skp1 p19 and CUL-1. FBXO35 is ubiquitously expressed at low levels in most human tissues.

Catalog Number: (10664-692)

Supplier: Bioss

Description: RSAD2 is a 361 amino acid protein that is involved in antiviral defense against pathogens such as Hep C, Cytomegalovirus and HIV-1. Localized to the cytosolic side of the endoplasmic reticulum and relocated to the Golgi apparatus upon viral infection, RSAD2 is thought to prevent viral budding by disrupting lipid rafts at the plasma membrane and supporting the Interferon-induced antiviral state of the cell. Additionally, RSAD2 can bind to and inactivate FDPS (an enzyme that is crucial for the synthesis of cholesterol and geranylated and farnesylated proteins), thereby playing a role in lipid synthesis. Overexpression of RSAD2 leads to abnormal lipid accumulation that is associated with atherosclerosis, a chronic inflammatory disease characterized by hardened arteries.

Catalog Number: (10664-684)

Supplier: Bioss

Description: RSAD2 is a 361 amino acid protein that is involved in antiviral defense against pathogens such as Hep C, Cytomegalovirus and HIV-1. Localized to the cytosolic side of the endoplasmic reticulum and relocated to the Golgi apparatus upon viral infection, RSAD2 is thought to prevent viral budding by disrupting lipid rafts at the plasma membrane and supporting the Interferon-induced antiviral state of the cell. Additionally, RSAD2 can bind to and inactivate FDPS (an enzyme that is crucial for the synthesis of cholesterol and geranylated and farnesylated proteins), thereby playing a role in lipid synthesis. Overexpression of RSAD2 leads to abnormal lipid accumulation that is associated with atherosclerosis, a chronic inflammatory disease characterized by hardened arteries.

Catalog Number: (10667-742)

Supplier: Bioss

Description: Members of the suppressor of cytokine signaling (SOCS) family of proteins contain C-terminal regions of homology called the SOCS box, which serves to couple SOCS proteins and their binding partners with the Elongin B/C complex. Several other families of proteins also contain SOCS boxes, but differ from the SOCS proteins in the type of domain they contain upstream of the SOCS box. The largest family of SOCS box-containing proteins is the ankyrin repeat and SOCS box-containing (ASB) protein family. ASB-7 (ankyrin repeat and SOCS box-containing 7) is a 318 amino acid protein that contains one SOCS box domain and seven ANK repeats and belongs to the ASB family. Existing as multiple alternatively spliced isoforms, ASB-7 functions as a substrate-recognition component of an E3 ubiquitin-protein ligase complex and, working in conjunction with other proteins, plays a role in the ubiquitination and subsequent proteasomal degradation of target proteins.

Catalog Number: (10667-738)

Supplier: Bioss

Description: Members of the suppressor of cytokine signaling (SOCS) family of proteins contain C-terminal regions of homology called the SOCS box, which serves to couple SOCS proteins and their binding partners with the Elongin B/C complex. Several other families of proteins also contain SOCS boxes, but differ from the SOCS proteins in the type of domain they contain upstream of the SOCS box. The largest family of SOCS box-containing proteins is the ankyrin repeat and SOCS box-containing (ASB) protein family. ASB-7 (ankyrin repeat and SOCS box-containing 7) is a 318 amino acid protein that contains one SOCS box domain and seven ANK repeats and belongs to the ASB family. Existing as multiple alternatively spliced isoforms, ASB-7 functions as a substrate-recognition component of an E3 ubiquitin-protein ligase complex and, working in conjunction with other proteins, plays a role in the ubiquitination and subsequent proteasomal degradation of target proteins.

Catalog Number: (10667-770)

Supplier: Bioss

Description: Members of the suppressor of cytokine signaling (SOCS) family of proteins contain C-terminal regions of homology called the SOCS box, which serves to couple SOCS proteins and their binding partners with the Elongin B and C complex. Several other families of proteins also contain SOCS boxes, but differ from the SOCS proteins in the type of domain they contain upstream of the SOCS box. The largest family of SOCS box-containing proteins is the ankyrin repeat and SOCS box-containing (ASB) protein family. Members of the ASB family include ASB-1 through ASB-18 and are involved in a variety of biological processes. ASB-17 is a 295 amino acid member of this family. ASB-17 contains one ankyrin repeat and one SOCS box domain. ASB-17 is thought to be a substrate-recognition subunit of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin protein ligase complex. This complex mediates the ubiquitination of target proteins and their subsequent proteasomal degradation.

Catalog Number: (10668-558)

Supplier: Bioss

Description: X-linked recessive myotubular myopathy is a congenital muscular disease characterized by severe hypotonia and generalized muscle weakness that, in most cases, leads to early postnatal death. The gene responsible for myotubular myopathy MTM1 encodes a dual specificity phosphatase, named myotubularin, which is highly conserved through evolution. The gene for MTM1 is localized to a 300 kb critical region on human Xq128 between IDS and GRBRA3. Human MTM1, a 603 amino-acid protein, is mutated in myotubular myopathy. The largely related protein hMTMR2 is found mutated in a recessive form of Charcot-Marie-Tooth neuropathy. Myotubularin is primarily a lipid phosphatase that acts on phosphatidylinositol 3-monophosphate and is involved in the regulation of the phosphatidylinositol 3-kinase (PI3-kinase) pathway and membrane trafficking. Wild-type myotubularin can directly dephosphorylate PI3P and PI4P in vitro. Thus, it decreases PI3P levels by down-regulating PI3K activity and by facilitating the degradation of PI3P.

Catalog Number: (10668-510)

Supplier: Bioss

Description: RNF11

Catalog Number: (10668-566)

Supplier: Bioss

Description: X-linked recessive myotubular myopathy is a congenital muscular disease characterized by severe hypotonia and generalized muscle weakness that, in most cases, leads to early postnatal death. The gene responsible for myotubular myopathy MTM1 encodes a dual specificity phosphatase, named myotubularin, which is highly conserved through evolution. The gene for MTM1 is localized to a 300 kb critical region on human Xq128 between IDS and GRBRA3. Human MTM1, a 603 amino-acid protein, is mutated in myotubular myopathy. The largely related protein hMTMR2 is found mutated in a recessive form of Charcot-Marie-Tooth neuropathy. Myotubularin is primarily a lipid phosphatase that acts on phosphatidylinositol 3-monophosphate and is involved in the regulation of the phosphatidylinositol 3-kinase (PI3-kinase) pathway and membrane trafficking. Wild-type myotubularin can directly dephosphorylate PI3P and PI4P in vitro. Thus, it decreases PI3P levels by down-regulating PI3K activity and by facilitating the degradation of PI3P.

Catalog Number: (10668-568)

Supplier: Bioss

Description: Involved in lineage commitment of primary hemopoietic progenitors by restricting erythroid formation and enhancing myeloid formation. Interferes with erythropoietin-induced erythroid terminal differentiation by preventing cells from exiting the cell cycle through suppression of CDKN1B/p27Kip1 levels. Suppresses RFWD2/COP1 activity via CSN3 which activates p53 and induces cell cycle arrest. Binds DNA and affects the expression of a number of genes so may function as a transcription factor in the nucleus.