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NBEAL1
NBEAL1 is a protein that in humans is encoded by the ''NBEAL1'' gene. It is found on chromosome 2q33.2 of ''Homo sapiens''. Through the different domains of this protein, the function of NBEAL1 is predicted to be involved in the following cellular mechanisms: vesicle trafficking, membrane dynamics, receptor signaling, pre-mRNA processing, signal transduction and cytoskeleton assembly. NBEAL1 is also known as Amytorophic Lateral Sclerosis 2 Chromosomal Region, ALS2CR16 and ALS2CR17. Protein Properties Transcript The mRNA for this protein consists of 9058 base pairs in a linear sequence with the coding sequence begins at base pair number 334 and extends until base pair number 8418. The translated protein is a total 56 exons that constitute a final length of 2694 amino acids. There are currently 9 known isoforms within humans. Domains Neurobeachin-like1 contains five domains: DUF4704, DUF4800, PH_BEACH, Beach, and WD40 repeats. = DUF4704 = DUF4704 is a domain of unknown fun ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NBEAL1 3D
NBEAL1 is a protein that in humans is encoded by the ''NBEAL1'' gene. It is found on chromosome 2q33.2 of ''Homo sapiens''. Through the different domains of this protein, the function of NBEAL1 is predicted to be involved in the following cellular mechanisms: vesicle trafficking, membrane dynamics, receptor signaling, pre-mRNA processing, signal transduction and cytoskeleton assembly. NBEAL1 is also known as Amytorophic Lateral Sclerosis 2 Chromosomal Region, ALS2CR16 and ALS2CR17. Protein Properties Transcript The mRNA for this protein consists of 9058 base pairs in a linear sequence with the coding sequence begins at base pair number 334 and extends until base pair number 8418. The translated protein is a total 56 exons that constitute a final length of 2694 amino acids. There are currently 9 known isoforms within humans. Domains Neurobeachin-like1 contains five domains: DUF4704, DUF4800, PH_BEACH, Beach, and WD40 repeats. = DUF4704 = DUF4704 is a domain of unknown fun ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NBEAL1 Structure
NBEAL1 is a protein that in humans is encoded by the ''NBEAL1'' gene. It is found on chromosome 2q33.2 of ''Homo sapiens''. Through the different domains of this protein, the function of NBEAL1 is predicted to be involved in the following cellular mechanisms: vesicle trafficking, membrane dynamics, receptor signaling, pre-mRNA processing, signal transduction and cytoskeleton assembly. NBEAL1 is also known as Amytorophic Lateral Sclerosis 2 Chromosomal Region, ALS2CR16 and ALS2CR17. Protein Properties Transcript The mRNA for this protein consists of 9058 base pairs in a linear sequence with the coding sequence begins at base pair number 334 and extends until base pair number 8418. The translated protein is a total 56 exons that constitute a final length of 2694 amino acids. There are currently 9 known isoforms within humans. Domains Neurobeachin-like1 contains five domains: DUF4704, DUF4800, PH_BEACH, Beach, and WD40 repeats. = DUF4704 = DUF4704 is a domain of unknown fun ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
WD40 Repeat
The WD40 repeat (also known as the WD or beta-transducin repeat) is a short structural motif of approximately 40 amino acids, often terminating in a tryptophan-aspartic acid (W-D) dipeptide. Tandem copies of these repeats typically fold together to form a type of circular solenoid protein domain called the WD40 domain. Structure WD40 domain-containing proteins have 4 to 16 repeating units, all of which are thought to form a circularised beta-propeller structure (see figure to the right). The WD40 domain is composed of several repeats, a variable region of around 20 residues at the beginning followed by a more common repeated set of residues. These repeats typically form a four stranded anti-parallel beta sheet or blade. These blades come together to form a propeller with the most common being a 7 bladed beta propeller. The blades interlock so that the last beta strand of one repeat forms with the first three of the next repeat to form the 3D blade structure. Function WD40-repe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pancreatic Tumor
Pancreatic tumors (Pancreatic cancer Pancreatic cancer arises when cell (biology), cells in the pancreas, a glandular organ behind the stomach, begin to multiply out of control and form a Neoplasm, mass. These cancerous cells have the malignant, ability to invade other parts of t ...) are often broken down into exocrine or endocrine tumors. Each different type of pancreatic tumor has a different appearance when examined under a microscope. These unique microscopic features and genetic markers are what allow for proper diagnosis and treatments in patients with pancreatic cancers. Types When talking about pancreatic cancers, the most common type is pancreatic adenocarcinoma, which accounts for greater than 85% of all pancreas cancers. Adenocarcinomas are exocrine tumors of the pancreas, which implies that they begin within the part of the pancreas responsible for creating digestive enzymes. Different subtypes of exocrine adenocarcinomas exist, with the most common being pancrea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lysosomal Trafficking Regulator
Lysosomal trafficking regulator is a vesicular transport protein associated with Chédiak–Higashi syndrome. In melanocytic cells LYST gene expression may be regulated by MITF Microphthalmia-associated transcription factor also known as class E basic helix-loop-helix protein 32 or bHLHe32 is a protein that in humans is encoded by the ''MITF'' gene. MITF is a basic helix-loop-helix leucine zipper transcription factor .... References External links GeneReviews/NCBI/NIH/UW entry on Chediak-Higashi Syndrome * {{membrane-protein-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
LRBA
Lipopolysaccharide-responsive and beige-like anchor protein is a protein that in humans is encoded by the ''LRBA'' gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba .... Patients with Chediak-Higashi syndrome (CHS1; MIM 214500) suffer from a systemic immunodeficiency involving defects in polarized trafficking of vesicles in a number of immune system cell types. In mouse, this syndrome is reproduced in strains with a mutation in the 'beige' gene that results in proteins lacking the BEACH (beige and CHS1) domain and C-terminal WD repeats. LRBA contains key features of both beige/CHS1 and A kinase anchor proteins (AKAPs; see MIM 602449). upplied by OMIMref name="entrez"> Deficiency of this protein in humans causes the condition known as LPS-responsive beige-like anchor protein defi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
WDFY3
WD repeat and FYVE domain-containing protein 3 is a protein that in humans is encoded by the ''WDFY3'' gene. This gene encodes a protein which contains WD repeats and an FYVE domain. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. Biochemistry This protein appears to act as a autophagy scaffolding protein.Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, Büttner B, Cho MT, Cooper GM, Doering JH, Dubourg C, Everman DB10, Hildebrand MS12,17, Santos FJR, Kellam B, Keller-Ramey J, Lemke JR, Liu S11, Niyazov D, Payne K, Person R, Quélin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh L, Yang S, Yuen RKC, Ziegler A, Sticht H, Pride MC, Orosco L, Martínez-Cerdeño V, Silverman JL, Crawley JN, Scherer SW, Zarbalis KS, Jamra R (2019) Pathogenic WDFY3 variants cause neu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NBEAL2
Neurobeachin-like 2 is a protein that in humans is encoded by the ''NBEAL2'' gene. Function The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 WD-40 is an American brand and the trademark of a penetrating oil manufactured by the WD-40 Company based in San Diego, California. The formula for WD-40 was invented for the Rocket Chemical Company as early as 1953 before it evolved into the ... domains, and may play a role in megakaryocyte alpha-granule biogenesis. Clinical relevance Mutation in this gene have been shown to cause gray platelet syndrome. References Further reading * * {{gene-3-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
12633
1 (one, unit, unity) is a number representing a single or the only entity. 1 is also a numerical digit and represents a single unit of counting or measurement. For example, a line segment of ''unit length'' is a line segment of length 1. In conventions of sign where zero is considered neither positive nor negative, 1 is the first and smallest positive integer. It is also sometimes considered the first of the infinite sequence of natural numbers, followed by 2, although by other definitions 1 is the second natural number, following 0. The fundamental mathematical property of 1 is to be a multiplicative identity, meaning that any number multiplied by 1 equals the same number. Most if not all properties of 1 can be deduced from this. In advanced mathematics, a multiplicative identity is often denoted 1, even if it is not a number. 1 is by convention not considered a prime number; this was not universally accepted until the mid-20th century. Additionally, 1 is th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Adenocarcinoma
Adenocarcinoma (; plural adenocarcinomas or adenocarcinomata ) (AC) is a type of cancerous tumor that can occur in several parts of the body. It is defined as neoplasia of epithelial tissue that has glandular origin, glandular characteristics, or both. Adenocarcinomas are part of the larger grouping of carcinomas, but are also sometimes called by more precise terms omitting the word, where these exist. Thus invasive ductal carcinoma, the most common form of breast cancer, is adenocarcinoma but does not use the term in its name—however, esophageal adenocarcinoma does to distinguish it from the other common type of esophageal cancer, esophageal squamous cell carcinoma. Several of the most common forms of cancer are adenocarcinomas, and the various sorts of adenocarcinoma vary greatly in all their aspects, so that few useful generalizations can be made about them. In the most specific usage (narrowest sense), the glandular origin or traits are exocrine; endocrine gland tumors, suc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or Lou Gehrig's disease, is a neurodegenerative disease that results in the progressive loss of motor neurons that control voluntary muscles. ALS is the most common type of motor neuron diseases. Early symptoms of ALS include stiff muscles, muscle twitches, and gradual increasing weakness and muscle wasting. ''Limb-onset ALS'' begins with weakness in the arms or legs, while ''bulbar-onset ALS'' begins with difficulty speaking or swallowing. Half of the people with ALS develop at least mild difficulties with thinking and behavior, and about 15% develop frontotemporal dementia. Most people experience pain. The affected muscles are responsible for chewing food, speaking, and walking. Motor neuron loss continues until the ability to eat, speak, move, and finally the ability to breathe is lost. ALS eventually causes paralysis and early death, usually from respiratory failure. Most cases of ALS (a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
