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Catalog Number: (10449-024)
Supplier: Bioss
Description: DCUN1D1 (DCUN1 domain-containing protein 1) contains a DUF298 domain and a UBA-like ubiquitin. Forms part of an E3 ubiquitin ligase complex for neddylation. Required for neddylation of cullin components of E3 cullin-RING ubiquitin ligase complexes by enhancing the rate of cullins neddylation. Functions to recruit the NEDD8-charged E2 enzyme to the cullin component. Involved in the release of inhibitory effets of CAND1 on cullin-RING ligase E3 complex assembly and activity. Acts also as an oncogene facilitating malignant transformation and carcinogenic progression. Defects in DCUN1D1 may be a cause of squamous cell carcinomas.Strongly overexpressed in thyroid tumors, bronchioloalveolar carcinomas, and malignant tissues of squamous cell carcinoma of the oral tongue. Not overexpressed in aggressive adrenocortical carcinomas.


Catalog Number: (10448-952)
Supplier: Bioss
Description: SKALP


Catalog Number: (10366-014)
Supplier: Bioss
Description: Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013].


Catalog Number: (10366-034)
Supplier: Bioss
Description: The protein encoded by this gene is a substrate for the fibroblast growth factor receptor. It is found in peripheral plasma membrane and functions in linking FGF receptor stimulation to activators of Ras. [provided by RefSeq, Jul 2008].


Catalog Number: (10466-044)
Supplier: Bioss
Description: RelevanceHAX1 associates with HS1, binding to its N-terminal region. It is also known to associate with PKD2 (involved in polycystic kidney disease) and with cortactin/EMS1. HAX1 is also reported to bind to hairpin structures in vimentin and DNA polymerase beta mRNAs, so may play a role in mRNA stability and transport. It may also function in promoting cell survival. Defects in HAX1 are the cause of autosomal recessive severe congenital neutropenia 3 (SCN3) also called Kostmann disease.


Catalog Number: (10464-042)
Supplier: Bioss
Description: Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa.


Catalog Number: (10464-006)
Supplier: Bioss
Description: CTRP1 enhances the production of aldosterone. CTRP1 was highly expressed in obese subjects as well as up-regulated in hypertensive patients, CTRP1 may be a newly identified molecular link between obesity and hypertension.


Catalog Number: (10404-514)
Supplier: Bioss
Description: Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma.


Catalog Number: (10275-264)
Supplier: Bioss
Description: 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 Krüppel-type DNA binding domain and a KRAB domain, which is thought to interact with KAP1, thereby recruiting histone modifying proteins. ZNF266 is a 549 amino acid nuclear protein belonging to the Krüppel C2H2-type zinc finger protein family. ZNF266 has one KRAB domain and fourteen C2H2 zinc fingers. Due to the presence of these domains, ZNF266 is thought to be involved in transcriptional regulation. Repression of ZNF266 results in the blocking of erythroid differentiation and partial blocking of megakaryocytic differentiation, possibly indicating a role in the differentiation of erythroids and megakaryocytes.


Catalog Number: (10275-258)
Supplier: Bioss
Description: Testis and spermatogenesis related gene 4 may play a role in the development of cryptorchidism, the failure of the testis to descend from the abdomen into the scrotum [RGD] [TISSUE SPECIFICITY] Testis.


Catalog Number: (10275-208)
Supplier: Bioss
Description: Serine/threonine-protein kinase involved in various processes such as cell cycle regulation, self-renewal of stem cells, apoptosis and splicing regulation. Has a broad substrate specificity; phosphorylates BCL2L14, CDC25B, MAP3K5/ASK1 and ZNF622. Acts as an activator of apoptosis by phosphorylating and activating MAP3K5/ASK1. Acts as a regulator of cell cycle, notably by mediating phosphorylation of CDC25B, promoting localization of CDC25B to the centrosome and the spindle poles during mitosis. Plays a key role in cell proliferation and carcinogenesis. Required for proliferation of embryonic and postnatal multipotent neural progenitors. Phosphorylates and inhibits BCL2L14, possibly leading to affect mammary carcinogenesis by mediating inhibition of the pro-apoptotic function of BCL2L14. Also involved in the inhibition of spliceosome assembly during mitosis by phosphorylating ZNF622, thereby contributing to its redirection to the nucleus. May also play a role in primitive hematopoiesis.


Catalog Number: (10275-192)
Supplier: Bioss
Description: Serine/threonine-protein kinase involved in various processes such as cell cycle regulation, self-renewal of stem cells, apoptosis and splicing regulation. Has a broad substrate specificity; phosphorylates BCL2L14, CDC25B, MAP3K5/ASK1 and ZNF622. Acts as an activator of apoptosis by phosphorylating and activating MAP3K5/ASK1. Acts as a regulator of cell cycle, notably by mediating phosphorylation of CDC25B, promoting localization of CDC25B to the centrosome and the spindle poles during mitosis. Plays a key role in cell proliferation and carcinogenesis. Required for proliferation of embryonic and postnatal multipotent neural progenitors. Phosphorylates and inhibits BCL2L14, possibly leading to affect mammary carcinogenesis by mediating inhibition of the pro-apoptotic function of BCL2L14. Also involved in the inhibition of spliceosome assembly during mitosis by phosphorylating ZNF622, thereby contributing to its redirection to the nucleus. May also play a role in primitive hematopoiesis.


Catalog Number: (10267-742)
Supplier: Bioss
Description: Notum is a 496 amino acid secreted protein that belongs to the pectinacetylesterase family and may deacetylate GlcNAc residues on cell surface glycans. The gene that encodes Notum consists of approximately 9,334 bases and maps to human chromosome 17q25.3. Encoding more than 1,200 genes, chromosome 17 comprises over 2.5% of the human genome. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Tumor suppressor p53 is necessary for maintenance of cellular genetic integrity by moderating cell fate through DNA repair versus cell death. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. Like p53, BRCA1 is directly involved in DNA repair, though specifically it is recognized as a genetic determinant of early onset breast cancer and predisposition to cancers of ovary, colon, prostate gland and fallopian tubes.


Catalog Number: (10267-728)
Supplier: Bioss
Description: Nur77 (also designated NGFI-B), Nurr1 (Nur-related factor 1), and NOR-1 (neuron-derived orphan receptor 1) constitute the NGFI-B subfamily within the nuclear receptor superfamily. Ligands for these protein have not been identified, and, therefore, they are designated “orphan nuclear receptors”. Genes of the NGFI-B subfamily are classified as immediate-early genes, which are induced rapidly, but transiently, in response to a variety of stimuli. They have been implicated in cell proliferation, differentiation, and apoptosis. The human NOR-1 gene maps to chromosome 9q, and encodes a protein which is expressed in heart, skeletal muscle, thymus, and spleen as well as in brain, where it is developmentally regulated. There-fore, NOR-1 may be involved in regulating neural differentiation. The NOR-1 gene also undergoes chromosomal translocation with the EWS gene to produce a protein thought to affect pre-mRNA splicing.


Catalog Number: (10425-348)
Supplier: Bioss
Description: ADAMTS (A Disintegrin And Metalloproteinase Domain with Thrombospondin type 1 Modules) is a family of zinc-dependent proteases that are implicated in a variety of normal and pathological conditions, including arthritis and cancer. ADAMTS protein family members contain an amino-terminal propeptide domain, a metalloproteinase domain, a disintegrin-like domain and a carboxy-terminus that contains a varying number of Thrombospondin type 1 (TSP-1) motifs. ADAMTS-L2 (ADAMTS-like protein 2) is a 951 amino acid secreted protein that is highly expressed in lung, kidney and liver. Mutations in the gene encoding ADAMTS are the cause of geleophysic dysplasia, an autosomal recessive disorder characterized by cardiac vavular anomalies, short stature, thick skin and brachydactyly. In individuals affected with geleophysic dysplasia, there is a significant increase in total active TGF-beta 1 and nuclear locations of p-SAMD2 in fibroblasts. Interestingly, ADAMTS-L2 interacts with LTBP-1, a glycoprotein that is part of the platelet-derived TGF-beta 1 complex.


Catalog Number: (10425-344)
Supplier: Bioss
Description: ADAMTS (A Disintegrin And Metalloproteinase Domain with Thrombospondin type 1 Modules) is a family of zinc-dependent proteases that are implicated in a variety of normal and pathological conditions, including arthritis and cancer. ADAMTS protein family members contain an amino-terminal propeptide domain, a metalloproteinase domain, a disintegrin-like domain and a carboxy-terminus that contains a varying number of Thrombospondin type 1 (TSP-1) motifs. ADAMTS-L2 (ADAMTS-like protein 2) is a 951 amino acid secreted protein that is highly expressed in lung, kidney and liver. Mutations in the gene encoding ADAMTS are the cause of geleophysic dysplasia, an autosomal recessive disorder characterized by cardiac vavular anomalies, short stature, thick skin and brachydactyly. In individuals affected with geleophysic dysplasia, there is a significant increase in total active TGF-beta 1 and nuclear locations of p-SAMD2 in fibroblasts. Interestingly, ADAMTS-L2 interacts with LTBP-1, a glycoprotein that is part of the platelet-derived TGF-beta 1 complex.


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