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Chromosome 14 (human)
Chromosome 14 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 14 spans about 107 million base pairs (the building material of DNA) and represents between 3 and 3.5% of the total DNA in cells. The centromere of chromosome 14 is positioned approximately at position 17.2 Mbp. Genes Number of genes The following are some of the gene count estimates of human chromosome 14. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 14. For complete list, see the link in the infobox on the right. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
G Banding
G-banding, G banding or Giemsa banding is a technique used in cytogenetics to produce a visible karyotype by staining condensed chromosomes. It is the most common chromosome banding method. It is useful for identifying genetic diseases through the photographic representation of the entire chromosome complement.Speicher, Michael R. and Nigel P. Carter. "The New Cytogenetics: Blurring the Boundaries with Molecular Biology." ''Nature'' Reviews Genetics, Vol 6. Oct 2005. The metaphase chromosomes are treated with trypsin (to partially digest the chromosome) and stained with Giemsa stain. Heterochromatic regions, which tend to be rich with adenine and thymine (AT-rich) DNA and relatively gene-poor, stain more darkly in G-banding. In contrast, less condensed chromatin (Euchromatin)—which tends to be rich with guanine and cytosine ( GC-rich) and more transcriptionally active—incorporates less Giemsa stain, and these regions appear as light bands in G-banding. The pattern of bands are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
HUGO Gene Nomenclature Committee
The HUGO Gene Nomenclature Committee (HGNC) is a committee of the Human Genome Organisation (HUGO) that sets the standards for human gene nomenclature. The HGNC approves a ''unique'' and ''meaningful'' name for every known human gene, based on a query of experts. In addition to the name, which is usually 1 to 10 words long, the HGNC also assigns a symbol (a short group of characters) to every gene. As with an SI symbol, a gene symbol is like an abbreviation but is more than that, being a second unique name that can stand on its own just as much as substitute for the longer name. It may not necessarily "stand for" the initials of the name, although many gene symbols do reflect that origin. Purpose Especially gene abbreviations/symbols but also full gene names are often not specific for a single gene. A marked example is CAP which can refer to any of 6 different genes (BRD4'', CAP1'', HACD1'', LNPEP'', SERPINB6'', and SORBS1''). The HGNC short gene names, or gene symbols, unlike ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CCDC176
Basal body-orientation factor 1 (BBOF1) is a protein that in humans is encoded by the gene CCDC176, which is located on the plus strand of chromosome 14 at 14q24.3. CCDC176 is neighbored by ALDH6A1 and ENTPD5 at the same locus. The mRNA is 3123 base pairs long and has 12 exons, the protein is 529 amino acids long and has a molecular weight of 61987 Da and a predicted isoelectric point of 9.07 in humans. Homology and evolution CCDC176 has no known paralogs and is orthologous in primates, mammals, birds, reptiles, amphibians, fish, all the way back to invertebrates, a fungi parasite and a proteobacteria. The domain found to be homologous is the DUF4515, a domain of unknown function. Protein function and characteristics This basal body protein has been shown in multiciliated cells to align and maintain cilia orientation in response to flow. This protein may also act by mediating a maturation step that stabilizes and aligns cilia orientation. No other genes or proteins have be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
C14orf93
C14orf93 is a protein that is encoded in humans by the C14orf93 gene. It is a globular protein with a conserved C-terminus that is localized to the nucleus. While expressed relatively highly in all tissues except nervous tissue, it is expressed particularly highly in T cells and other immune tissues. Gene c14orf93 is located on the short arm of chromosome 14 (14q11.2). c14orf93’s accession number is 021944, and its aliases are FLJ12154 and LOC60686. The gene has 2430 bp and 7 exons. Protein Features The c14orf93 protein has 9 isoforms. The most common and largest isoform has 538 AAs, a molecular weight of 58.7 kdal, and a theoretical isoelectric point of 5.7. This protein is globular with a conserved C-terminus, a mixed charge cluster from 371 to 399, and a high scoring uncharged segment from 28 to 58. SDSC PELE consensus data predicts 15 alpha helixes and 8 beta strands. Post-translational modifications Post-translational modifications to c14orf93 include phosphorylati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
C14orf80
Uncharacterized protein C14orf80 is a protein which in humans is encoded by the chromosome 14 open reading frame 80, C14orf80, gene. Gene Location C14orf80 is located on chromosome 14 (14q32.33) starting at 105,489,855bp and ending at 105,499,248bp. C14orf80 is 9,393 base pairs long and contains 11 exons that can be alternatively spliced to form different mRNA variants.https://www.ncbi.nlm.nih.gov/gene/283643> Variants Transcription of C14orf80 can produce 19 mRNA splice variants. Only six of these nineteen variants are predicted to not encode for a protein. Of the mRNA variants that have been found experimentally, the longest is 1,719 base pairs and produces a protein with 426 amino acids. Expression C14orf80 has been determined to be expressed in 77 types of tissues and 100 developmental stages. It has also been determined to have a higher level of expression in a few cases of pancreatic and prostate cancer cells compared to normal tissue. Homology Paralogs There are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bcl-2 Family
The Bcl-2 familyTC# 1.A.21 consists of a number of evolutionarily-conserved proteins that share Bcl-2 homology (BH) domains. The Bcl-2 family is most notable for their regulation of apoptosis, a form of programmed cell death, at the mitochondrion. The Bcl-2 family proteins consists of members that either promote or inhibit apoptosis, and control apoptosis by governing mitochondrial outer membrane permeabilization (MOMP), which is a key step in the intrinsic pathway of apoptosis. A total of 25 genes in the Bcl-2 family were identified by 2008. Structure Bcl-2 family proteins have a general structure that consists of a hydrophobic α-helix surrounded by amphipathic α-helices. Some members of the family have transmembrane domains at their c-terminus which primarily function to localize them to the mitochondrion. Bcl-x(L) is 233 amino acyl residues (aas) long and exhibits a single very hydrophobic putative transmembrane α-helical segment (residues 210-226) when in the membrane. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Apoptosis
Apoptosis (from grc, ἀπόπτωσις, apóptōsis, 'falling off') is a form of programmed cell death that occurs in multicellular organisms. Biochemical events lead to characteristic cell changes (morphology) and death. These changes include blebbing, cell shrinkage, nuclear fragmentation, chromatin condensation, DNA fragmentation, and mRNA decay. The average adult human loses between 50 and 70 billion cells each day due to apoptosis. For an average human child between eight and fourteen years old, approximately twenty to thirty billion cells die per day. In contrast to necrosis, which is a form of traumatic cell death that results from acute cellular injury, apoptosis is a highly regulated and controlled process that confers advantages during an organism's life cycle. For example, the separation of fingers and toes in a developing human embryo occurs because cells between the digits undergo apoptosis. Unlike necrosis, apoptosis produces cell fragments called apoptotic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BCL2L2
Bcl-2-like protein 2 is a 193-amino acid protein that in humans is encoded by the ''BCL2L2'' gene on chromosome 14 (band q11.2-q12). It was originally discovered by Leonie Gibson, Suzanne Cory and colleagues at the Walter and Eliza Hall Institute of Medical Research, who called it Bcl-w. Function This gene encodes a pro-survival (anti-apoptotic) member of the bcl-2 protein family, and is most similar to Bcl-xL. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators. Expression of this gene in cells has been shown to contribute to reduced cell apoptosis under cytotoxic conditions. Studies of the related gene in mice indicated a role in the survival of NGF- and BDNF-dependent neurons. Mutation and knockout studies of the mouse gene demonstrated an essential role in adult spermatogenesis. Clinical significance High levels of Bcl-w are seen in many cancers, including glioblastoma, colorectal cancer, non-small-cell lung carcinoma, and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ATXN3
Ataxin-3 is a protein that in humans is encoded by the ''ATXN3'' gene. Clinical significance Machado–Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by the ''ATXN3'' gene contains CAG repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is the cause of Machado–Joseph disease. This disorder is thus a trinucleotide repeat disorder type I known as a polyglutamine (PolyQ) disease. There is an inverse correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. Interactions Ataxin 3 has been shown to interact with: * RAD23A, * RAD23B, and * VCP. Model organisms Model organisms have been used in the study of ATXN3 function. A conditional knockout mouse line called ''Atxn3tm1a(KOMP)Wtsi'' was generated at the Wellcome Trust Sanger Institute. Male and fe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
AHNAK2
AHNAK nucleoprotein 2 is a protein that in humans is encoded by the AHNAK2 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 External links PDBe-KB provides an overview of all the structure information available in the PDB for Human Protein AHNAK2 {{gene-14-stub ... [...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] |
ACIN1
Apoptotic chromatin condensation inducer in the nucleus is a protein that in humans is encoded by the ''ACIN1'' 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 External links * Further reading * * * * * * * * * * * * Human proteins {{gene-14-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
