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FAM177A1
Family with sequence similarity 177 member A1 (FAM177A1) is a protein that in humans is encoded by the ''FAM177A1'' gene, previously known as C14orf24. The other member of this family is FAM177B. Function FAM177A1 has been linked to immune system regulation and to neurogenesis. Interactions IntActreports physical interactions between FAM117A1 and these other human proteins: * Aquaporin-6 * Caspase 6 * DPM3 * ELOVL4 * FATE1 * JAGN1 * LAMP2 * PBX3 * SGPL1 * SH3GLB1 Endophilin-B1 is a protein that in humans is encoded by the ''SH3GLB1'' gene. Endophilin-B1 belongs to the Bin/Amphiphysin/Rvs167 (BAR) family of proteins and plays a critical role in mitochondrial fission and fusion, as well as in autophagy and ... * TMX2 References External links FAM177A1 Research Fund (for FAM177A1 Associated Disease) {{Protein-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FAM177B
Family with sequence similarity 177 member B (FAM177B) is a protein that in humans is encoded by the ''FAM177B'' gene. The other member of this family is FAM177A1. References [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residue ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aquaporin-6
Aquaporin-6, (AQP-6) also known as kidney-specific aquaporin is a protein in humans that is encoded by the ''AQP6'' gene. The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein ( MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 Aquaporin-5 (AQP-5) is a protein that in humans is encoded by the ''AQP5'' gene. Aquaporin-5 (AQP-5) is a water channel protein. Aquaporin Aquaporins, also called water channels, are channel proteins from a larger family of major intrinsic ... reside in a cluster on chromosome 12q13. References External links * Further reading * * * * * * {{gene-12-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Caspase 6
Caspase-6 is an enzyme that in humans is encoded by the ''CASP6'' gene. ''CASP6'' orthologs have been identified in numerous mammals for which complete genome data are available. Unique orthologs are also present in birds, lizards, lissamphibians, and teleosts. Caspase-6 has known functions in apoptosis, early immune response and neurodegeneration in Huntington's and Alzheimer's disease. Function This gene encodes a protein that is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes that undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein is processed by caspases 7, 8 and 10, and is thought to function as a downstream enzyme in the caspase activation cascade. Caspase 6 can also undergo self-processing without other members ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DPM3
dolichyl-phosphate mannosyltransferase polypeptide 3, also known as DPM3, is a human gene. Function Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex. Clinical significance Mutations in this gene are associated with congenital disorder of glycosylation A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ELOVL4
Elongation of very long chain fatty acids protein 4 is a protein that in humans is encoded by the ''ELOVL4'' gene. ELOVL4 is a member of a large family of fatty acid elongases (ELO), that catalyzes the rate-limiting step in the elongation of long chain fatty acids (LC-FA) into very long -chain saturated (VLC-SFA) and polyunsaturated (VLC-PUFA) fatty acids, collectively known as VLC-FA (very long chain fatty acid). ELOVL4 and its products are found in the brain, skin, retina, Meibomian glands, testes and sperm. Known mutations of ELOVL4 in humans cause diseases such as Autosomal Dominant Stargardt-like Macular Dystrophy (STGD3), Spinocerebellar Ataxia-34 (SCA34), skin deformities and seizures. See also * Stargardt disease Stargardt disease is the most common inherited single-gene retinal disease. In terms of the first description of the disease, it follows an autosomal recessive inheritance pattern, which has been later linked to bi-allelic ABCA4 gene variants (S ... Refe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FATE1
Fetal and Adult Testis-Expressed 1, encoded by the ''FATE1'' gene in humans, is a protein identified as a cancer-testis antigen (CTA) in hepatocellular carcinomas and gastric and colon cancers. It is testis-specific in the fetus (aged 6 – 11 weeks). In adults, it is expressed predominantly in the testis and adrenal glands, with some expression in the lungs, heart, kidneys and throughout the brain. FATE1 is member of the Miff protein family, with its C-terminal domain, consisting of a transmembrane domain with a coiled-coil domain, showing high similarity to the mitochondrial fission factor (MFF) protein which is involved in mitochondrial and peroxisomal fission. Gene location ''FATE1'' gene in humans is located on the long arm of the X chromosome at region 28, from base pair 150,884,502 to base pair 150,891,617. Mechanism It has been hypothesized that FATE1 uses its C-terminal transmembrane domain to attach to endoplasmic reticulum (ER) membrane and with its C-terminal c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
LAMP2
Lysosome-associated membrane protein 2 (LAMP2), also known as CD107b (Cluster of Differentiation 107b) and Mac-3, is a human gene. Its protein, LAMP2, is one of the lysosome-associated membrane glycoproteins. The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of the gene produces three variants - LAMP-2A, LAMP-2B and LAMP-2C. LAMP-2A is the receptor for chaperone-mediated autophagy. Recently it has been determined that antibodies against LAMP-2 account for a fraction of patients who get a serious kidney disease termed focal necrotizing glomerulonephritis. LAMP-2B is associated with Danon disease. Structure and tissue distribution The gene for LAMP2 has 9 coding exons and 2 alternate last exons, 9a and 9b. When the last exon is spli ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PBX3
Pre-B-cell leukemia transcription factor 3 is a protein that in humans is encoded by the ''PBX3'' 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 b .... References Further reading * * * * * * * * * * External links * * Transcription factors {{gene-9-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SGPL1
Sphingosine-1-phosphate lyase 1 is an enzyme that in humans is encoded by the ''SGPL1'' 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 .... References Further reading * * * * * * * * {{gene-10-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
