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Chromosome 17 (human)
Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 17 spans more than 84 million base pairs (the building material of DNA) and represents between 2.5 and 3% of the total DNA in cells. Chromosome 17 contains the Homeobox B gene cluster. Genes Number of genes The following are some of the gene count estimates of human chromosome 17. 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). The most conservative estimate, from CCDS, 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 17. For complete list, see the link in the infobox on the right. The following are some of the genes and their corresponding Cytogenetic location on chromosome 17: p-arm q-arm Diseases and disord ... [...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] |
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 Full gene names, and especially gene abbreviations and symbols, are often not specific to 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, unlik ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CCDC40 (gene)
CCDC40 is the gene in humans that encodes the protein named coiled-coil domain containing 40. Function This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause primary ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing Alternative splicing, alternative RNA splicing, or differential splicing, is an alternative RNA splicing, splicing process during gene expression that allows a single gene to produce different splice variants. For example, some exons of a gene ma ... results in multiple transcript variants. rovided by RefSeq, Aug 2011 References Further reading * * * * External links * {{gene-17-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CCDC144A
Coiled-coil domain-containing protein 144A is a protein that in humans is encoded by the ''CCDC144A'' gene. An alias of this gene is called KIAA0565. There are four members of the CCDC family: CCDC 144A, 144B, 144C and putative CCDC 144 N-terminal like proteins. Gene This gene has a nucleotide sequence that is 5140 bp long, and it encodes 641 amino acids. It is found on the short arm, plus (forward) strand of chromosome 17 at p11.2. The mRNA for the CCDC144A gene has 3 alternative splicing isoforms named A2RUR9-1, A2RUR9-2, AND A2RUR9-3, but there is no experimental confirmation available yet. Protein This protein for this gene is also known as coiled coil domain containing 144A (CCDC144A) protein. It consists of 641 amino acids. This protein weighs 75.8 kDa and has an isoelectric point of 6.357. This protein localizes near the nucleus, and is a soluble protein with a hydrophobicity of -1.021842. This protein is also non-secretory and has 10 potential serine and 3 potent ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
C1QL1
The complement component 1, q subcomponent-like 1 (or C1QL1) is encoded by a gene located at chromosome 17q21.31. It is a secreted protein and is 258 amino acids in length. The protein is widely expressed but its expression is highest in the brain and may also be involved in regulation of motor control. The pre-mRNA of this protein is subject to RNA editing. Protein function Its physiological function is unknown. It is a member of the C1q domain proteins which have important signalling roles in inflammation and in adaptive immunity. RNA editing Editing type The pre-mRNA of this protein is subject to A to I RNA editing, which is catalyzed by a family of adenosine deaminases acting on RNA ( ADARs) that specifically recognize adenosines within double-stranded regions of pre-mRNAs and deaminate them to inosine. Inosines are recognised as guanosine by the cell's translational machinery. There are three members of the ADAR family: ADARs 1-3, with ADAR 1 and ADAR 2 being ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 17 Open Reading Frame 67
Chromosome 17 open reading frame 67 is a protein that in humans is encoded by the C17orf67 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 Further reading * {{gene-17-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BRCA1P1
BRCA1 pseudogene 1 is a protein that in humans is encoded by the BRCA1P1 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 {{gene-17-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
AZI1
Centrosomal protein 131 also known as 5-azacytidine-induced protein 1 is a protein that in humans is encoded by the ''CEP131'' 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 * Further reading * * * * Centrosome {{gene-17-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ARHGAP44
Rho GTPase activating protein 44 is a protein in humans that is encoded by the ARHGAP44 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 * Further reading * {{refend ... [...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] |
ABI3
ABI gene family member 3 (ABI3) also known as new molecule including SH3 (Nesh) is a protein that in humans is encoded by the ''ABI3'' gene. Function This gene encodes a member of an Signal transducing adaptor protein, adaptor protein family. Members of this family encode proteins containing a homeobox homology Protein domain, domain, proline rich region and SH3 domain, Src-homology 3 (SH3) domain. The encoded protein inhibits ectopic expression, ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinases. See also * ABI1 * ABI2 * ABI3BP References External links * Further reading * * * * * * * * * {{gene-17-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
