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Chromosome 14
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 (mainly chromosomal abnormalities) 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. Method The metaphase chromosomes are treated with trypsin (to partially digest the chromosome) and Staining (biology), stained with Giemsa stain. Heterochromatin, 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-content, GC-rich) and more Transcription (genetics), transcriptionally acti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ensembl Genome Database Project
Ensembl genome database project is a scientific project at the European Bioinformatics Institute, which provides a centralized resource for geneticists, molecular biologists and other researchers studying the genomes of our own species and other vertebrates and model organisms. Ensembl is one of several well known genome browsers for the retrieval of genomic information. Similar databases and browsers are found at NCBI and the University of California, Santa Cruz (UCSC). History The human genome consists of three billion base pairs, which code for approximately 20,000–25,000 genes. However the genome alone is of little use, unless the locations and relationships of individual genes can be identified. One option is manual annotation, whereby a team of scientists tries to locate genes using experimental data from scientific journals and public databases. However this is a slow, painstaking task. The alternative, known as automated annotation, is to use the power of computers to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CCDC88C (gene)
Coiled-coil domain containing 88C is a protein that in humans is encoded by the CCDC88C gene. Function This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ domain binding motif in its C-terminus, with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus, a condition characterized by excessive accumulation of cerebrospinal fluid Cerebrospinal fluid (CSF) is a clear, colorless Extracellular fluid#Transcellular fluid, transcellular body fluid found within the meninges, meningeal tissue that surrounds the vertebrate brai ... [...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 fungal 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 b ... [...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 phosphorylatio ... [...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.nih.gov/ref> Variants Transcription (genetics), 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 tissue (biology), tissues and 100 Human development (biology), developmental stages. It has also been determined to have a higher level of Gene expression, expression in a few cases of pancreatic and prostate cancer cells ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bcl-2 Family
The Bcl-2 family (TC# 1.A.21) consists of a number of Conserved sequence, evolutionarily-conserved proteins that share Bcl-2 Sequence homology, 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. Members of the BCL-2 family regulate apoptosis in mammals, reptiles, amphibs, fish, and other phyla of metazoan life, with exception of nematodes and insects. Their molecular structure and function, as well as their protein dynamics, are highly conserved over hundreds of millions of years in tissue forming life forms. Structure Bcl-2 family proteins have a general structure that consists of a Hydr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Apoptosis
Apoptosis (from ) is a form of programmed cell death that occurs in multicellular organisms and in some eukaryotic, single-celled microorganisms such as yeast. Biochemistry, Biochemical events lead to characteristic cell changes (Morphology (biology), morphology) and death. These changes include Bleb (cell biology), blebbing, Plasmolysis, cell shrinkage, Karyorrhexis, nuclear fragmentation, Pyknosis, chromatin condensation, Apoptotic DNA fragmentation, DNA fragmentation, and mRNA decay. The average adult human loses 50 to 70 1,000,000,000, billion cells each day due to apoptosis. For the average human child between 8 and 14 years old, each day the approximate loss is 20 to 30 billion cells. 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 ... [...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, an ... [...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 UV excision repair protein RAD23 homolog B is a protein that in humans is encoded by the ''RAD23B'' gene. Function The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a prot ... [...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 has two meanings. The Mendelian gene is a basic unit of heredity. 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: protei .... 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 residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metabolic reactions, DNA replication, Cell signaling, responding to stimuli, providing Cytoskeleton, structure to cells and Fibrous protein, organisms, and Intracellular transport, transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the Nucleic acid sequence, nucleotide sequence of their genes, and which usually results in protein folding into a specific Protein structure, 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 pep ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
