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Human Chromosome 1
Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 spans about 249 million nucleotide base pairs, which are the basic units of information for DNA.http://vega.sanger.ac.uk/Homo_sapiens/mapview?chr=1 Chromosome size and number of genes derived from this database, retrieved 2012-03-11. It represents about 8% of the total DNA in human cells. It was the last completed chromosome, sequenced two decades after the beginning of the Human Genome Project. Genes Number of genes The following are some of the gene count estimates of human chromosome 1. 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. ... [...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] |
Pseudogene
Pseudogenes are nonfunctional segments of DNA that resemble functional genes. Most arise as superfluous copies of functional genes, either directly by DNA duplication or indirectly by Reverse transcriptase, reverse transcription of an mRNA transcript. Pseudogenes are usually identified when genome sequence analysis finds gene-like sequences that lack regulatory sequences needed for Transcription (biology), transcription or Translation (biology), translation, or whose coding sequences are obviously defective due to Frameshift mutation, frameshifts or premature stop codons. Most non-bacterial genomes contain many pseudogenes, often as many as functional genes. This is not surprising, since various biological processes are expected to accidentally create pseudogenes, and there are no specialized mechanisms to remove them from genomes. Eventually pseudogenes may be deleted from their genomes by chance DNA replication or DNA repair errors, or they may accumulate so many mutational cha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
LRRIQ3
LRRIQ3 (Leucine-rich repeats and IQ motif containing 3), which is also known as LRRC44, is a protein that in humans is encoded by the LRRIQ3 gene. It is predominantly expressed in the testes, and is linked to a number of diseases. Gene Locus LRRIQ3 is found on the minus strand of the end of the short arm of human chromosome 1 at 1p31.1. Overall Structure There are a total of 7 exons in the putative sequence of LRRIQ3. mRNA Expression LRRIQ3 is expressed as 2 primary isoforms, which produce proteins of length 624 amino acids and 464 amino acids respectively. It is expressed at low levels in human and brown rat tissues, with highest expression levels in testes tissue. There are relatively high expression levels in T cells, the epididymis, the kidney, and a number of glands. Protein General Characteristics and Compositional Features Human protein LRRIQ3 Isoform 1 consists of 624 amino acids, and has a molecular weight of 73.7 kDa. The isoelectric point of LRRIQ3 is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
LOC100132287
Uncharacterized LOC100132287 is a protein that in humans is encoded by the LOC100132287 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 {{gene-1-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FHAD1
Forkhead-associated domain containing protein 1 (FHAD1) is a protein encoded by the FHAD1 gene. As the name suggests, it has a forkhead-associated domain and an extensive coiled coil structure. It is predicted to have a function related to DNA transcription. It is localized to the nucleus and has a nuclear localization signal. Gene Locus and Size In humans, the FHAD1 gene is located on chromosome 1 (1p36.21) and the genomic sequence is on the plus strand starting from 15236559 bp and ending at 15400283 bp. There are 3 main genes around FHAD1, out of which 2 encode proteins with known functions. Two genes, EFHD2 and Chymotrypsin-C (CTRC) lie downstream of FHAD1 on the plus strand. TMEM51 lies upstream of FHAD1. FHAD1 is 163,682 bases long and contains 43 exons. Common Aliases FHAD1 has 4 aliases, Forkhead associated phosphopeptide binding domain 1, Forkhead-associated (FHA) phosphopeptide binding domain 1, FHA Domain-Containing Protein 1, and KIAA1937. mRNA The mRNA t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DENN1B
DENN1B is a human gene, located on chromosome 1. The gene is hypothesized by Danish scientists Klaus Bønnelykke and Hans Bisgaard to be related to asthma Asthma is a long-term inflammatory disease of the airways of the lungs. It is characterized by variable and recurring symptoms, reversible airflow obstruction, and easily triggered bronchospasms. Symptoms include episodes of wheezing, cou .... References Genes on human chromosome 1 {{gene-1-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CCDC181
Coiled-coil domain-containing protein 181 (CCDC181) is a protein that in human is encoded by C1orf114, which is located at the Chromosome 1 at 1q24.2. The accession is Q5T1D7. Researches have recently revealed that CCDC 181 is a microtubule-binding protein that interacts with murine Hook1 in haploid male germ cells and localizes to the sperm tail and motile cilia. The disruption of Hook1 may lead to inappropriate function of spermatogenesis. The dysfunction may be related to the abnormal head shape of sperm or distinctive structural changes in flagella in sperm, which can result in male infertility. An increased rate of my gene has found in the haploid phase of male cell during meiosis, thus it is believed to relate to sperm cell and aid in spermatogenesis. Expression It is discovered that a significant high expression of CCDC 181 found on human testis, which is a male reproductive gland. This is related to the study of its encoded protein-CCDC181, which relates to human infertil ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
C1orf38
Chromosome 1 open reading frame 38 is a protein that in humans is encoded by the ''C1orf38'' gene. The gene is also known as ''ICB-1'' and ''THEMIS2'' in humans, and the orthologue in mice is ''BC013712''. C1orf38 has been associated with cancer susceptibility. Model organisms Model organisms have been used in the study of ''C1orf38'' function. A conditional knockout mouse line, called ''BC013712tm1a(KOMP)Wtsi'' was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty six tests were carried out on mutant mice and one significant abnormality was observed: chromosomal instability was detect by a micronucleus test. References Further reading * * * Human proteins Genes mutated in mice {{gene-1-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
C1orf27
Uncharacterized protein Chromosome 1 Open Reading Frame 27 is a protein in humans, encoded by the C1orf27 gene. It is accession number NM_017847. This is a membrane protein that is 3926 base pairs long with the most extensive string of amino acids being 454aa long. C1orf27 exhibits cytoplasmic expression in epidermal tissues. Predicted associated biological processes of the gene include cell fate specification and developmental properties. Gene Locus This gene is located on chromosome 1 at 1q31.1. It is encoded on the plus strand of DNA spanning from 186,344,406 to 186,390,514. mRNA Alternative splicing There appear to be four isoforms due to splicing. Two of those are truncated on the 3' end of the protein from 266aa and 396aa. Additional location of alternative splice sites are from 79aa to 102aa and 246aa to 260aa. Protein General properties The primary encoded protein of C1orf27 consists of 454 amino acid residues and is 3926 base pairs long. It consists of 14 total exons. T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
C1orf127
Uncharactarized protein C1orf127 is a protein that in humans is encoded by the C1orf127 gene, the structure and function of which is poorly understood by the scientific community. C1orf127 is targeted for extracellular secretion in humans. Gene C1orf127 is located on the short arm of Chromosome 1 (1p36.22), spanning 35,566 base pairs from 10946471 to 10982037. It is oriented on the minus strand of the chromosome. mRNA The primary assembly has 13 exons, and yields an 823 amino acid protein product. There are two known isoforms caused by alternative splicing. Protein C1orf127’s protein product is a member of the Ensembl protein family TF607005. The primary assembly weighs 89 kDa with an isoelectric point of 5.54, making it both longer and heavier than the average protein. Domains and Motifs C1orf127 is contains two protein domains: DUF4556 and PHA03247, a domain in the Atrophin-1 superfamily. The functions of both domains are unknown. The protein also appears to have a cleava ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
C1orf112
Chromosome 1 open reading frame 112, is a protein that in humans is encoded by the C1orf112 gene, and is located at position 1q24.2. C1orf112 encodes for seventeen variants of mRNA, fifteen of which are functional proteins. C1orf112 has a determined precursor molecular weight of 96.6 kDa and an isoelectric point of 5.62. C1orf112 has been experimentally determined to localize to the mitochondria, although it does not contain a mitochondrial targeting sequence. Gene The gene spans 192,073 base pairs, with 29 different exons. C1orf112 is located at position 1q24.2. C1orf112 shares antisense coding regions with C1orf156 and SCYL3. Protein There are currently eight experimentally determined RefSeq isoforms. C1orf112 has a domain of unknown function DUF4487. Composition Compositional analysis through SAPS predicted much less glycine and much more leucine than expected relative to other human protein sequences. This characteristic is conserved across primate orthologs. A mixed ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
National Center For Biotechnology Information
The National Center for Biotechnology Information (NCBI) is part of the United States National Library of Medicine (NLM), a branch of the National Institutes of Health (NIH). It is approved and funded by the government of the United States. The NCBI is located in Bethesda, Maryland, and was founded in 1988 through legislation sponsored by US Congressman Claude Pepper. The NCBI houses a series of databases relevant to biotechnology and biomedicine and is an important resource for bioinformatics tools and services. Major databases include GenBank for DNA sequences and PubMed, a bibliographic database for biomedical literature. Other databases include the NCBI Epigenomics database. All these databases are available online through the Entrez search engine. NCBI was directed by David Lipman, one of the original authors of the BLAST sequence alignment program and a widely respected figure in bioinformatics. GenBank NCBI had responsibility for making available the GenBank DNA seque ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
