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Description:
The tripartite motif (TRIM) family of proteins are characterized by a conserved TRIM domain that includes a coiled-coil region, a B-box type zinc finger, one RING finger and three zinc-binding domains. TRIM8 (tripartite motif containing 8), also known as GERP (glioblastoma-expressed RING finger protein) or RNF27 (RING finger protein 27), is a 551 amino acid protein that is thought to function as an E3 ubiquitin-protein ligase that promotes SOCS-1 proteasomal degradation. As a widely expressed homodimer, TRIM8 localizes to nuclear bodies and contains two B box-type zinc fingers and one RING-type zinc finger. TRIM8 is expressed in lung, heart, brain and skeletal muscle, with low levels detected in intestine, placenta, leukocytes and liver. The gene encoding TRIM8 maps to human chromosome 10q24.32.
Description:
Dyneins are multisubunit, high molecular weight ATPases that interact with microtubules to generate force by converting the chemical energy of ATP into the mechanical energy of movement. Cytoplasmic or axonemal Dynein heavy, intermediate, light and light-intermediate chains are all components of minus end-directed motors; the complex transports cellular cargos towards the central region of the cell. Axonemal dynein motors contain one to three non-identical heavy chains and cause a sliding of microtubules in the axonemes of cilia and flagella in a mechanism necessary for cilia to beat and propel the cell. DNAH14 (dynein, axonemal, heavy chain 14), also known as C1orf67 or HL18, is a 3507 amino acid member of the dynein heavy chain protein family. DNAH14 is one of the force generating protein of respiratory cilia and may be involved in sperm motility through sperm flagellar assembly.
Description:
C14orf174, is a 674 amino acid protein that contains one SAM (sterile alpha motif) domain. Existing as two alternatively spliced isoforms, C14orf174 is encoded by a gene that maps to human chromosome 14q24.3. Chromosome 14 contains about 700 genes and 106 million base pairs and makes up about 3.5% of human cellular DNA. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease. The SERPINA1 gene is located on chromosome 14 and when defective leads to the genetic disorder antitrypsin deficiency. This disorder is characterized by severe lung complications and liver dysfunction. Notably, the immunoglobulin heavy chain locus is found on chromosome 14 and has been identified as a fusion with the chromosome 19 encoded protein Bcl-3 in the (14;19) translocations found in a variety of B cell malignancies.
Description:
RFESD, also known as Rieske domain-containing protein, is a 157 amino acid protein that binds one 2Fe-2S cluster per subunit. Involved in metal ion binding, RFESD contains one Rieske domain. The RFESD gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken and zebrafish, and maps to human chromosome 5q15. Chromosome 5 makes up approximately 6% of the human genome and contains 181 million base pairs, which encode 1,000 genes. Chromosome 5 is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is caused by insertions or deletions within the TCOF1 gene and is also associated with chromosome 5. Deletion of 5q or chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.
Description:
Zinc-finger proteins contain DNA-binding domains and have a wide variety of functions, most of which encompass some form of transcriptional activation or repression. ZDHHC1 (zinc finger, DHHC-type containing 1), also known as ZNF377 (zinc finger protein 377) or C16orf1, is a 485 amino acid multi-pass membrane protein that contains one DHHC-type zinc finger. Expressed in fetal heart, lung and kidney and also present in adult lung and pancreas, ZDHHC1 functions as a palmitoyltransferase that catalyzes the conversion of palmitoyl-CoA and protein-cysteine to S-palmitoyl protein and CoA. Like ZDHHC1, ZDHHC5, ZDHHC6, ZDHHC7 and ZDHHC18 each contain one DHHC-type zinc finger through which they convey palmitoyltransferase activity against a broad range of substrates, including H-Ras, SNAP 25 and GABAA R proteins.
Description:
RFESD, also known as Rieske domain-containing protein, is a 157 amino acid protein that binds one 2Fe-2S cluster per subunit. Involved in metal ion binding, RFESD contains one Rieske domain. The RFESD gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken and zebrafish, and maps to human chromosome 5q15. Chromosome 5 makes up approximately 6% of the human genome and contains 181 million base pairs, which encode 1,000 genes. Chromosome 5 is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is caused by insertions or deletions within the TCOF1 gene and is also associated with chromosome 5. Deletion of 5q or chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.
Description:
RFESD, also known as Rieske domain-containing protein, is a 157 amino acid protein that binds one 2Fe-2S cluster per subunit. Involved in metal ion binding, RFESD contains one Rieske domain. The RFESD gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken and zebrafish, and maps to human chromosome 5q15. Chromosome 5 makes up approximately 6% of the human genome and contains 181 million base pairs, which encode 1,000 genes. Chromosome 5 is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is caused by insertions or deletions within the TCOF1 gene and is also associated with chromosome 5. Deletion of 5q or chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.
Description:
ANKRD17 is a 2,603 amino acid protein that contains 25 ankyrin repeats and one KH domain. ANKRD17 is expressed in bone marrow and is thought to be involved in liver development. ANKRD17 localizes to the cytoplasm and the nucleus. ANKRD17 exists as five alternatively spliced isoforms that are encoded by a gene which maps to human chromosome 4. Representing approximately 6% of the human genome, chromosome 4 contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease. Chromosome 4 reportedly contains the largest gene deserts (regions of the genome with no protein encoding genes) and has one of the two lowest recombination frequencies of the human chromosomes.
Description:
Interleukin-2 (IL-2) is a 133 amino acid glycoprotein with one intramolecular disulfide bond and variable glycosylation. It is secreted by activated T cells and induces proliferation and maturation of activated T cells, natural killer cells, and lymphokine activated killer cells. IL-2 also stimulates proliferation of antibody-producing B cells, activates neutrophils, and induces mononuclear cells to secrete IFN-gamma and TNF-alpha and -beta. Moreover, studies have shown that IL-2 is required for activation-induced apoptosis, an important hemeostatic mechanism in the immune system, which is involved in the maintenance of peripheral tolerance to self-antigens.
Description:
Zinc-finger proteins contain DNA-binding domains and have a wide variety of functions, most of which encompass some form of transcriptional activation or repression. ZDHHC1 (zinc finger, DHHC-type containing 1), also known as ZNF377 (zinc finger protein 377) or C16orf1, is a 485 amino acid multi-pass membrane protein that contains one DHHC-type zinc finger. Expressed in fetal heart, lung and kidney and also present in adult lung and pancreas, ZDHHC1 functions as a palmitoyltransferase that catalyzes the conversion of palmitoyl-CoA and protein-cysteine to S-palmitoyl protein and CoA. Like ZDHHC1, ZDHHC5, ZDHHC6, ZDHHC7 and ZDHHC18 each contain one DHHC-type zinc finger through which they convey palmitoyltransferase activity against a broad range of substrates, including H-Ras, SNAP 25 and GABAA R proteins.
Description:
The Strep-tag system is a method which allows the purification and detection of proteins by affinity chromatography. The Strep-tag is a synthetic peptide consisting of eight amino acids (Trp-Ser-His-Pro-Gln-Phe-Glu-Lys). This peptide sequence exhibits intrinsic affinity towards Strep-Tactin, a specifically engineered streptavidin and can be N- or C- terminally fused to recombinant proteins. By exploiting the highly specific interaction, Strep-tagged proteins can be isolated in one step from crude cell lysates. Because the Strep-tag elutes under gentle, physiological conditions it is especially suited for generation of functional proteins.
Description:
BXDC2 is a 306 amino acid protein encoded by the human gene BXDC2. BXDC2 is a nuclear protein that contains one Brix domain. Brix domain containing proteins represent a family of proteins involved in the biogenesis of large ribosomal subunits. The Brix domain is a region that is homologous to the yeast protein Pitx1 (Ribosome biogenesis protein BRX1). Pitx1 is part of a complex that includes BXDC5, BXDC1 and PPAN. This complex is required for the biogenesis of the 60S ribosomal subunit. BXDC2 exhibits the same functions as Pitx1.
Description:
BXDC2 is a 306 amino acid protein encoded by the human gene BXDC2. BXDC2 is a nuclear protein that contains one Brix domain. Brix domain containing proteins represent a family of proteins involved in the biogenesis of large ribosomal subunits. The Brix domain is a region that is homologous to the yeast protein Pitx1 (Ribosome biogenesis protein BRX1). Pitx1 is part of a complex that includes BXDC5, BXDC1 and PPAN. This complex is required for the biogenesis of the 60S ribosomal subunit. BXDC2 exhibits the same functions as Pitx1.
Description:
GIPC2 is a 315 amino acid protein that localizes to the cytoplasm and contains one PDZ domain. Expressed at high levels in kidney and colon and at lower levels in adult liver, GIPC2 interacts with SEMA5A and is thought to function as a scaffold protein, possibly modulating cell adhesion and growth factor signaling and playing a role in tumorigenesis. The gene encoding GIPC2 maps to human chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome.
Description:
KIF7 is a 1,343 amino acid protein expressed in embryonic stem cells, melanotic melanoma and Jurkat T-cells. KIF7 is a member of the KIF27 subfamily of the kinesin-like protein family and contains one kinesin-motor domain. It is suggested that KIF7 may participate in the Hedgehog (Hh) signaling pathway by regulating the proteolysis and stability of GLI transcription factors. Hedgehog (Hh) signaling plays a critical role in embryonic development.
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