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Chromosome 18 (human)
Chromosome 18 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 18 spans about 80 million base pairs (the building material of DNA) and represents about 2.5 percent of the total DNA in cells. Genes Number of genes The following are some of the gene count estimates of human chromosome 18. 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 18. For complete list, see the link in the infobox on the right. Diseases and disorders The following diseases are some of those related to genes o ... [...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] |
UniProt
UniProt is a freely accessible database of protein sequence and functional information, many entries being derived from genome sequencing projects. It contains a large amount of information about the biological function of proteins derived from the research literature. It is maintained by the UniProt consortium, which consists of several European bioinformatics organisations and a foundation from Washington, DC, USA. The UniProt consortium The UniProt consortium comprises the European Bioinformatics Institute (EBI), the Swiss Institute of Bioinformatics (SIB), and the Protein Information Resource (PIR). EBI, located at the Wellcome Trust Genome Campus in Hinxton, UK, hosts a large resource of bioinformatics databases and services. SIB, located in Geneva, Switzerland, maintains the ExPASy (Expert Protein Analysis System) servers that are a central resource for proteomics tools and databases. PIR, hosted by the National Biomedical Research Foundation (NBRF) at the George ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FECH (gene)
Protoporphyrin ferrochelatase (EC 4.98.1.1, formerly EC 4.99.1.1, or ferrochelatase; systematic name protoheme ferro-lyase (protoporphyrin-forming)) is an enzyme encoded by the ''FECH'' gene in humans. Ferrochelatase catalyses the eighth and terminal step in the biosynthesis of heme, converting protoporphyrin IX into heme B. It catalyses the reaction: : Function Ferrochelatase catalyzes the insertion of ferrous iron into protoporphyrin IX in the heme biosynthesis pathway to form heme B. The enzyme is localized to the matrix-facing side of the inner mitochondrial membrane. Ferrochelatase is the best known member of a family of enzymes that add divalent metal cations to tetrapyrrole structures. For example, magnesium chelatase adds magnesium to protoporphyrin IX in the first step of bacteriochlorophyll biosynthesis. Heme B is an essential cofactor in many proteins and enzymes. In particular, heme b plays a key role as the oxygen carrier in hemoglobin in red blood cells and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ESCO1
Establishment of sister chromatid cohesion N-acetyltransferase 1 is a protein that in humans is encoded by the ESCO1 gene. Function ESCO1 belongs to a conserved family of acetyltransferases involved in sister chromatid A sister chromatid refers to the identical copies ( chromatids) formed by the DNA replication of a chromosome, with both copies joined together by a common centromere. In other words, a sister chromatid may also be said to be 'one-half' of the du ... cohesion. See also * Lysine N-acetyltransferase References External links PDBe-KB provides an overview of all the structure information available in the PDB for Human N-acetyltransferase ESCO1 {{gene-18-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ELAC1
Zinc phosphodiesterase ELAC protein 1 is an enzyme that in humans is encoded by the ''ELAC1'' gene. Function The enzyme is a phosphodiesterase A phosphodiesterase (PDE) is an enzyme that breaks a phosphodiester bond. Usually, ''phosphodiesterase'' refers to cyclic nucleotide phosphodiesterases, which have great clinical significance and are described below. However, there are many oth .... References Further reading * * * * * * * {{gene-18-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DIPK1C
Divergent protein kinase domain 1C is a protein that in humans is encoded by the ''DIPK1C'' gene. Function This gene encodes a member of the divergent protein kinase domain family (DIPK) of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum The endoplasmic reticulum (ER) is a part of a transportation system of the eukaryote, eukaryotic cell, and has many other important functions such as protein folding. The word endoplasmic means "within the cytoplasm", and reticulum is Latin for ... but their specific functions are unknown. References Further reading * {{gene-18-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DCC (gene)
Netrin receptor DCC, also known as DCC, or colorectal cancer suppressor is a protein which in humans is encoded by the ''DCC'' gene. DCC has long been implicated in colorectal cancer and its previous name was ''Deleted in colorectal carcinoma''. Netrin receptor DCC is a single transmembrane receptor. Since it was first discovered in a colorectal cancer study in 1990, ''DCC'' has been the focus of a significant amount of research. ''DCC'' held a controversial place as a tumour suppressor gene for many years, and is well known as an axon guidance receptor that responds to netrin-1. More recently DCC has been characterized as a dependence receptor, and many hypotheses have been put forward that have revived interest in ''DCCs candidacy as a tumour suppressor gene, as it may be a ligand-dependent suppressor that is frequently epigenetically silenced. Background Early studies of colorectal tumours found that allelic deletions of segments of chromosome 18q occur in a very high perc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CXXC1
CpG-binding protein (CGBP) also known as CXXC-type zinc finger protein 1 (CXXC1) or PHD finger and CXXC domain-containing protein 1 (PCCX1) is a protein that in humans is encoded by the ''CXXC1'' gene. Proteins that contain a CXXC motif within their DNA-binding domain, such as CXXC1, recognize CpG sequences and regulate gene expression. See also * PHD finger The PHD finger was discovered in 1993 as a Cysteine, Cys4-Histidine, His-Cys3 motif in the plant homeodomain (hence PHD) proteins HAT3.1 in ''Arabidopsis'' and maize ZmHox1a. The PHD zinc finger motif resembles the metal binding RING domain (Cys ... * CXXC5 References External links * * * Further reading * * * * * * * * * * * {{gene-18-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CHMP1B
Charged multivesicular body protein 1b is a protein that in humans is encoded by the ''CHMP1B'' 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 * * * * * * * * * * * {{protein-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CABYR
Calcium-binding tyrosine phosphorylation-regulated protein is a protein that in humans is encoded by the ''CABYR'' 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 .... To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene localizes to the principal piece of the sperm flagellum in association with the fibrous sheath and exhibits calcium-binding when phosphorylated during capacitation. A pseudogene on chromosome 3 has been identified for this gene. Transcript variants of this gene encode multiple protein isoforms. An additional transcript and isoform has not been fully characte ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CABLES1
CDK5 and ABL1 enzyme substrate 1 is a protein that in humans is encoded by the ''CABLES1'' gene. CABLES1 is a cyclin-dependent kinase (CDK)-binding protein that plays a role in proliferation and/or cell differentiation. upplied by OMIM It is a tumor suppressor gene which losing it (by mutations, knockout, knockdown or inactivation) may lead to colorectal cancer Colorectal cancer (CRC), also known as bowel cancer, colon cancer, or rectal cancer, is the development of cancer from the Colon (anatomy), colon or rectum (parts of the large intestine). Signs and symptoms may include Lower gastrointestinal ... CRC. References External links * Further reading * * * * * * * * * * * * * * * * * {{gene-18-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
C18orf63
Chromosome 18 open reading frame 63 is a protein which in humans is encoded by the C18orf63 gene. This protein is not yet well understood by the scientific community. Research has been conducted suggesting that C18orf63 could be a potential biomarker for early stage pancreatic cancer and breast cancer. Gene This gene is located at band 22, sub-band 3, on the long arm of Chromosome 18 (human), chromosome 18. It is composed of 5065 base pairs spanning from 74,315,875 to 74,359,187 bp on chromosome 18. The gene has a total of 14 exons. C18orf63 is also known by the alias DKFZP78G0119. No isoforms exist for this gene. Expression C18orf63 has high expression in the Testicle, testis. The gene shows low expression in the kidneys, liver, lung, and pelvis. There is no phenotype associated with this gene. Promoter The Promoter (genetics), promoter region for C18orf63 is 1163 bp long starting at 74,314,813 bp and ending at 74,315,975 bp. The promoter ID is GXP_4417391. The presence ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
