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Telomeric Repeat-binding Factor 1
Telomeric repeat-binding factor 1 is a protein that in humans is encoded by the ''TERF1'' gene. Gene The human TERF1 gene is located in the chromosome 8 at 73,921,097-73,960,357 bp. Two transcripts of this gene are alternatively spliced products. The TERF1 gene is also known as TRF, PIN2 (Proteinase Inhibitor 2), TRF1, t-TRF1 and h-TRF1-AS. Protein The protein structure contains a C-terminal Myb motif, a dimerization domain (TERF homology) near its N-terminus and an acidic N-terminus. Subcellular distribution The cellular distribution of this DNA binding protein features the nucleoplasm, chromosomes, a telomeric region, a nuclear telomere cap complex, the cytoplasm, the spindle, the nucleus and a nucleolus and a nuclear chromosome. Function TERF 1 gene encodes a telomere specific protein which is a component of the telomere's shelterin nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor of telomerase, ac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Transferrin
Transferrins are glycoproteins found in vertebrates which bind to and consequently mediate the transport of iron (Fe) through blood plasma. They are produced in the liver and contain binding sites for two Fe3+ ions. Human transferrin is encoded by the ''TF'' gene and produced as a 76 kDa glycoprotein. Transferrin glycoproteins bind iron tightly, but reversibly. Although iron bound to transferrin is less than 0.1% (4 mg) of total body iron, it forms the most vital iron pool with the highest rate of turnover (25 mg/24 h). Transferrin has a molecular weight of around 80 kDa and contains two specific high-affinity Fe(III) binding sites. The affinity of transferrin for Fe(III) is extremely high ( association constant is 1020 M−1 at pH 7.4) but decreases progressively with decreasing pH below neutrality. Transferrins are not limited to only binding to iron but also to different metal ions. These glycoproteins are located in various bodily fluids of vertebrates. Some inv ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Carboxyl
In organic chemistry, a carboxylic acid is an organic acid that contains a carboxyl group () attached to an R-group. The general formula of a carboxylic acid is or , with R referring to the alkyl, alkenyl, aryl, or other group. Carboxylic acids occur widely. Important examples include the amino acids and fatty acids. Deprotonation of a carboxylic acid gives a carboxylate anion. Examples and nomenclature Carboxylic acids are commonly identified by their trivial names. They at oftentimes have the suffix ''-ic acid''. IUPAC-recommended names also exist; in this system, carboxylic acids have an ''-oic acid'' suffix. For example, butyric acid (C3H7CO2H) is butanoic acid by IUPAC guidelines. For nomenclature of complex molecules containing a carboxylic acid, the carboxyl can be considered position one of the parent chain even if there are other substituents, such as 3-chloropropanoic acid. Alternately, it can be named as a "carboxy" or "carboxylic acid" substituent on a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MAPRE1
Microtubule-associated protein RP/EB family member 1 is a protein that in humans is encoded by the ''MAPRE1'' gene. Function The protein encoded by this gene was first identified by its binding to the APC ( Adenomatous polyposis coli) protein which is often mutated in familial and sporadic forms of colorectal cancer. Immunofluorescence has demonstrated that EB1 localizes to the centrosome, mitotic spindle, and distal tips of cytoplasmic microtubules. Throughout the cell cycle, EB1 proteins situate on the microtubule plus ends, which is why EB1 is categorized as a microtubule plus end tracking protein(+TIP protein). The protein also associates with components of the dynactin complex and the intermediate chain of cytoplasmic dynein. Because of these associations, it is thought that this protein is involved in the regulation of microtubule structures and chromosome stability. This gene is a member of the RP/EB family. Interactions MAPRE1 has been shown to interact with T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Abl Gene
Tyrosine-protein kinase ABL1 also known as ABL1 is a protein that, in humans, is encoded by the ''ABL1'' gene (previous symbol ''ABL'') located on chromosome 9. c-Abl is sometimes used to refer to the version of the gene found within the mammalian genome, while v-Abl refers to the viral gene, which was initially isolated from the Abelson murine leukemia virus. Function The ''ABL1'' proto-oncogene encodes a cytoplasmic and nuclear protein tyrosine kinase that has been implicated in processes of cell differentiation, cell division, cell adhesion, and stress response such as DNA repair. Activity of ABL1 protein is negatively regulated by its SH3 domain, and deletion of the SH3 domain turns ABL1 into an oncogene. The t(9;22) translocation results in the head-to-tail fusion of the '' BCR'' and ''ABL1'' genes, leading to a fusion gene present in many cases of chronic myelogenous leukemia. The DNA-binding activity of the ubiquitously expressed ABL1 tyrosine kinase is regulated b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NME1
Nucleoside diphosphate kinase A is an enzyme that in humans is encoded by the ''NME1'' gene. It is thought to be a metastasis suppressor. Function This gene (NME1) was identified because of its reduced mRNA transcript levels in highly metastatic cells. Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by this gene) and 'B' (encoded by NME2) isoforms. Mutations in this gene have been identified in aggressive neuroblastomas. Two transcript variants encoding different isoforms have been found for this gene. Co-transcription of this gene and the neighboring downstream gene (NME2) generates naturally occurring transcripts (NME1-NME2), which encodes a fusion protein consisting of sequence sharing identity with each individual gene product. Interactions NME1 has been shown to interact with: * Aurora A kinase, * CD29 * NME3, * Protein SET, * RAR-related orphan receptor alpha, * RAR-related orphan receptor beta, and * TERF1. See also *N ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TNKS2
Tankyrase-2 is an enzyme that in humans is encoded by the ''TNKS2'' gene. Interactions TNKS2 has been shown to interact with GRB14, TERF1 and Cystinyl aminopeptidase Leucyl/cystinyl aminopeptidase, also known as cystinyl aminopeptidase (CAP), insulin-regulated aminopeptidase (IRAP), human placental leucine aminopeptidase (PLAP), oxytocinase, and vasopressinase, is an enzyme of the aminopeptidase group that in .... References Further reading * * * * * * * * * * * * {{Gene-10-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TINF2
TERF1-interacting nuclear factor 2 is a protein that in humans is encoded by the ''TINF2'' gene. TINF2 is a component of the shelterin protein complex found at the end of telomeres. Interactions TINF2 has been shown to interact with ACD, POT1 and TERF1 Telomeric repeat-binding factor 1 is a protein that in humans is encoded by the ''TERF1'' gene. Gene The human TERF1 gene is located in the chromosome 8 at 73,921,097-73,960,357 bp. Two transcripts of this gene are alternatively spliced produ .... References Further reading * * * * * * * * * * * * * * * * External links GeneReviews/NCBI/NIH/UW entry on Dyskeratosis CongenitaPDBe-KBprovides an overview of all the structure information available in the PDB for Human TERF1-interacting nuclear factor 2 (TINF2) Telomere-related proteins {{gene-14-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PINX1
''PIN2/TERF1''-interacting telomerase inhibitor 1, also known as ''PINX1'', is a human gene. ''PINX1'' is also known as ''PIN2'' interacting protein 1. ''PINX1'' is a telomerase inhibitor and a possible tumor suppressor. Interactions PINX1 has been shown to interact with MCRS1, TERF1 and telomerase reverse transcriptase. Structure There are two known variants of PINX1. The second variant “lacks an exon in the 3’ coding region which results in a frameshift compared to variant 1. The encoded isoform is shorter and has a distinct C-terminus compared to isoform 1.” There are three ''PINX1'' cDNA clones. The longest one encodes a 328 amino acid 45kDa protein which contains an N-terminal Gly-rich patch and a C-terminal TID domain (telomerase inhibitory domain). The TRF1 binding domain is in the C-terminal 75 amino acids of ''PINX1''. Mouse PINX1 is 74% identical to human PINX1. In other eukaryotes, including yeast, there is an overall 50% similarity to human PINX1. Function ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ataxia Telangiectasia Mutated
ATM serine/threonine kinase or Ataxia-telangiectasia mutated, symbol ATM, is a serine/threonine protein kinase that is recruited and activated by DNA double-strand breaks. It phosphorylates several key proteins that initiate activation of the DNA damage checkpoint, leading to cell cycle arrest, DNA repair or apoptosis. Several of these targets, including p53, CHK2, BRCA1, NBS1 and H2AX are tumor suppressors. In 1995, the gene was discovered by Yosef Shiloh who named its product ATM since he found that its mutations are responsible for the disorder ataxia–telangiectasia. In 1998, the Shiloh and Kastan laboratories independently showed that ATM is a protein kinase whose activity is enhanced by DNA damage. Introduction Throughout the cell cycle DNA is monitored for damage. Damages result from errors during replication, by-products of metabolism, general toxic drugs or ionizing radiation. The cell cycle has different DNA damage checkpoints, which inhibit the next or maintain ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MAPRE2
Microtubule-associated protein RP/EB family member 2 is a protein that in humans is encoded by the ''MAPRE2'' 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 .... Function The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene family. The function of this protein is unknown; however, its homology suggests involvement in tumorigenesis of colorectal cancers and proliferative control of normal cells. This gene may belong to the intermediate/early gene family, involved in the signal transduction cascade downstream of the TCR. Interactions MAPRE2 has been shown to interact with APC. References Further reading * * * * * * * * * * * * * * {{gene-18-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ABL (gene)
Tyrosine-protein kinase ABL1 also known as ABL1 is a protein that, in humans, is encoded by the ''ABL1'' gene (previous symbol ''ABL'') located on chromosome 9. c-Abl is sometimes used to refer to the version of the gene found within the mammalian genome, while v-Abl refers to the viral gene, which was initially isolated from the Abelson murine leukemia virus. Function The ''ABL1'' proto-oncogene encodes a cytoplasmic and nuclear protein tyrosine kinase that has been implicated in processes of cell differentiation, cell division, cell adhesion, and stress response such as DNA repair. Activity of ABL1 protein is negatively regulated by its SH3 domain, and deletion of the SH3 domain turns ABL1 into an oncogene. The t(9;22) translocation results in the head-to-tail fusion of the '' BCR'' and ''ABL1'' genes, leading to a fusion gene present in many cases of chronic myelogenous leukemia. The DNA-binding activity of the ubiquitously expressed ABL1 tyrosine kinase is regulated b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
