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1q21.1 Copy Number Variations
1q21.1 copy number variations (CNVs)Understanding the impact of 1q21.1 Copy Number Variant; C. Harvard et al; Orphanet Journal of Rare Diseases 2011, 6:54; are rare aberrations of human chromosome 1. In a common situation a human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 CNVs one chromosome of the pair is not complete because a part of the sequence of the chromosome is missing, or overcomplete, because some parts of the sequence are duplicated. The result is that one chromosome is of normal length and the other one is too long or too short. The structure of 1q21.1 The structure of 1q21.1 is complex. The area has a size of approximately 6 Mega base (Mb) (from 141.5 Mb to 147.9 Mb). Within 1q21.1 there are two areas where the CNVs can be found: the proximal area or TAR area (144.1 to 144.5) and the distal area (144.7 to 145.9). A 1q21.1 CNV will commonly be found in one of these areas, but an overlap with the other area or parts that are outside t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 1 To 1q21
A chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins are the histones. These proteins, aided by chaperone proteins, bind to and condense the DNA molecule to maintain its integrity. These chromosomes display a complex three-dimensional structure, which plays a significant role in transcriptional regulation. Chromosomes are normally visible under a light microscope only during the metaphase of cell division (where all chromosomes are aligned in the center of the cell in their condensed form). Before this happens, each chromosome is duplicated (S phase), and both copies are joined by a centromere, resulting either in an X-shaped structure (pictured above), if the centromere is located equatorially, or a two-arm structure, if the centromere is located distally. The joined copies are now called sist ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TXNIP
Thioredoxin-interacting protein is a protein that in humans is encoded by the ''TXNIP'' gene. Interactions TXNIP has been shown to interact with Thioredoxin and ZBTB32. Related gene problems *TAR syndrome *1q21.1 deletion syndrome *1q21.1 duplication syndrome 1q21.1 duplication syndrome or 1q21.1 (recurrent) microduplication is a rare aberration of chromosome 1. In a common situation a human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 duplication syndrome one chromosome ... References Further reading * * * * * * * * * * * * * * * {{gene-1-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PDZK1
Na(+)/H(+) exchange regulatory cofactor NHE-RF3 is a protein that in humans is encoded by the ''PDZK1'' gene. Interactions PDZK1 has been shown to interact with: * AKAP10, * CLCN3, * Cystic fibrosis transmembrane conductance regulator * FARP2, * PDZK1IP1 PDZK1-interacting protein 1 is a protein that in humans is encoded by the ''PDZK1IP1'' gene. Interactions PDZK1IP1 has been shown to Protein-protein interaction, interact with PDZK1. References Further reading * * * * * * Exte ..., * SLC22A12, * SLC22A4, * SLC34A3, * SLK, and * Sodium-hydrogen antiporter 3 regulator 1. Related gene problems * TAR syndrome * 1q21.1 deletion syndrome * 1q21.1 duplication syndrome References Further reading * * * * * * * * * * * * * * * * {{protein-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CD160
CD160 antigen is a protein that in humans is encoded by the ''CD160'' gene. CD160 is a 27 kDa glycoprotein which was initially identified with the monoclonal antibody BY55. Its expression is tightly associated with peripheral blood NK cells and CD8 T lymphocytes with cytolytic effector activity. The cDNA sequence of CD160 predicts a cysteine-rich, glycosylphosphatidylinositol-anchored protein of 181 amino acids with a single Ig-like domain weakly homologous to KIR2DL4 molecule. CD160 is expressed at the cell surface as a tightly disulfide-linked multimer. RNA blot analysis revealed CD160 mRNAs of 1.5 and 1.6 kb whose expression was highly restricted to circulating NK and T cells, spleen and small intestine. Within NK cells CD160 is expressed by CD56dimCD16+ cells whereas among circulating T cells its expression is mainly restricted to TCRgd bearing cells and to TCRab+CD8brightCD95+CD56+CD28-CD27-cells. In tissues, CD160 is expressed on all intestinal intraepithelial lymphocytes. CD ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RNF115
RING finger protein 115 is a protein, that in humans, is encoded by the ''RNF115'' 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 Further reading * * * * * * * * RING finger proteins {{gene-1-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
POLR3C
DNA-directed RNA polymerase III subunit RPC3 is an enzyme that in humans is encoded by the ''POLR3C'' gene. Interactions POLR3C has been shown to interact with GTF3C4 General transcription factor 3C polypeptide 4 is a protein that in humans is encoded by the ''GTF3C4'' gene. Interactions GTF3C4 has been shown to interact with GTF3C2, GTF3C1, POLR3C DNA-directed RNA polymerase III subunit RPC3 is an enzy .... Related gene problems * TAR syndrome * 1q21.1 deletion syndrome * 1q21.1 duplication syndrome References Further reading * * * * * * {{gene-1-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NUDT17
Nudix hydrolase 17 is a protein that in humans is encoded by the NUDT17 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 Further reading {{gene-1-stub Nudix hydrolases ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PIAS3
E3 SUMO-protein ligase PIAS3 is an enzyme that in humans is encoded by the PIAS3 gene. PIAS family The mammalian PIAS family consists of four members: PIAS1, PIAS2, PIAS3 and PIAS4. In Drosophila, a single PIAS homologue named dPIAS/Zimp has been identified. In yeast, two PIAS-related proteins were identified namely SIZ1 and SIZ2. The PIAS family contains more than 60 proteins, most of them transcription factors that can be either positively or negatively regulated through multiple mechanisms. Discovery IAS proteins were originally identified in studies that were aimed to decipher the Janus Kinase (JAK)/STAT signaling pathway. Originally, PIAS3 was found to interact specifically with phosphorylated STAT3 in Interleukin -6 (IL-6) activated murine myeloblast M1 cells. This interaction is mediated via PIAS3 binding to the STAT3 DNA binding domain. Hence, STAT3 transcriptional activity is inhibited by the physical prevention of its binding to target genes. Subsequently, PIAS3 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ANKRD35
Ankyrin repeat domain 35 also known as ANKRD35 is a protein which in humans is encoded by the ''ANKRD35'' 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 .... Related gene problems * TAR syndrome * 1q21.1 deletion syndrome * 1q21.1 duplication syndrome References {{Gene-1-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ITGA10
Integrin alpha-10 also known as ITGA10 is a protein that in humans is encoded by the ''ITGA10'' gene. Function Integrins are integral membrane proteins composed of an alpha chain and a beta chain, and are known to participate in cell adhesion Cell adhesion is the process by which cells interact and attach to neighbouring cells through specialised molecules of the cell surface. This process can occur either through direct contact between cell surfaces such as cell junctions or indir ... as well as cell-surface mediated signalling. The I-domain containing alpha 10 combines with the integrin beta 1 chain ( ITGB1) to form a novel collagen type II-binding integrin expressed in cartilage tissue. Related gene problems * TAR syndrome * 1q21.1 deletion syndrome * 1q21.1 duplication syndrome References Further reading * * * * * * * * * External linksITGA10Info with links in thCell Migration Gateway Integrins {{gene-1-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
