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Description:
ATRNL1 is a 1379 amino acid single-pass type I membrane protein that may play a role in melanocortin Signalling pathways that regulate energy homeostasis. The ATRNL1 protein contains a C-type lectin domain, a CUB domain, two EGF-like domains, six Kelch repeats, two laminin EGF-like domains and five PSI domains. ATRNL1 interacts with MC4-R in several regions known to be important in the regulation of energy homeostasis by melanocortins, such as the paraventricular nucleus of hypothalamus and the dorsal motor nucleus of the vagus. The ATRNL1 gene is conserved in dog, cow, mouse, rat, chicken, zebrafish and C. elegans, exists as two alternatively spliced isoforms and maps to human chromosome 10q25.3. Strong evidence of linkage to late-onset Alzheimer disease (LOAD) is linked to chromosome 10, which implicates a wide region and at least one disease-susceptibility locus.
Description:
DUX3 belongs to the paired homeobox family and contains 2 homeobox DNA-binding domains. It expressed in hepatoma Hep3B cells. DUX genes are present in 3.3-kilobase elements, a tandem repeat family scattered in the genome found on the short arms of all acrocentric chromosomes as well as on several other chromosomes. May be functional despite lack of introns and of a poly(A) addition signal. Two different isoforms are known.
Description:
DUX3 belongs to the paired homeobox family and contains 2 homeobox DNA-binding domains. It expressed in hepatoma Hep3B cells. DUX genes are present in 3.3-kilobase elements, a tandem repeat family scattered in the genome found on the short arms of all acrocentric chromosomes as well as on several other chromosomes. May be functional despite lack of introns and of a poly(A) addition signal. Two different isoforms are known.
Description:
DUX3 belongs to the paired homeobox family and contains 2 homeobox DNA-binding domains. It expressed in hepatoma Hep3B cells. DUX genes are present in 3.3-kilobase elements, a tandem repeat family scattered in the genome found on the short arms of all acrocentric chromosomes as well as on several other chromosomes. May be functional despite lack of introns and of a poly(A) addition signal. Two different isoforms are known.
Description:
DUX3 belongs to the paired homeobox family and contains 2 homeobox DNA-binding domains. It expressed in hepatoma Hep3B cells. DUX genes are present in 3.3-kilobase elements, a tandem repeat family scattered in the genome found on the short arms of all acrocentric chromosomes as well as on several other chromosomes. May be functional despite lack of introns and of a poly(A) addition signal. Two different isoforms are known.
Description:
The multiprotein exon junction complex (EJC) is deposited on mRNAs upstream of exon–exon junctions as a consequence of pre-mRNA splicing. In mammalian cells, this complex serves as a key modulator of spliced mRNA metabolism. MLN51 is a nucleocytoplasmic shuttling protein that is overexpressed in breast cancer. The function of MLN51 in mammals remains elusive. Its fly homolog, named barentsz, as well as the proteins mago nashi and tsunagi have been shown to be required for proper oskar mRNA localization to the posterior pole of the oocyte. Magoh and Y14, the human homologs of mago nashi and tsunagi, are core components of the exon junction complex (EJC). The EJC is assembled on spliced mRNAs and plays important roles in post-splicing events including mRNA export, nonsense-mediated mRNA decay, and translation. Human MLN51 is an RNA-binding protein present in ribonucleo-protein complexes.
Description:
Identifies cytotoxic/suppressor T-cells that interact with MHC class I bearing targets. CD8 is thought to play a role in the process of T-cell mediated killing. CD8 alpha chains binds to class I MHC molecules alpha-3 domains.
Description:
Agpat2 is a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. It is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in its have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
Description:
Eph receptor A2 is the receptor for members of the ephrin-A family. It binds to ephrin-A1, -A3, -A4 and -A5. Eph receptor A3 is also a receptor for members of the ephrin-A family. It binds to ephrin-A2, -A3, -A4 and -A5 and is thought to play a role in lymphoid function. Eph receptor A4 is a receptor for members of the ephrin-A family. It binds to ephrin-A1, -A4 and -A5. It binds more poorly to ephrin-A2 and -A3. It may play a role in a signal transduction process involved in hindbrain pattern formation.
Description:
This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described.
Description:
Required for the function of light chain amino-acid transporters. Involved in sodium-independent, high-affinity transport of large neutral amino acids such as phenylalanine, tyrosine, leucine, arginine and tryptophan. Involved in guiding and targeting of LAT1 and LAT2 to the plasma membrane. When associated with SLC7A6 or SLC7A7 acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Required for normal and neoplastic cell growth. When associated with SLC7A5/LAT1, is also involved in the transport of L-DOPA across the blood-brain barrier, and that of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane in tissues such as placenta. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. When associated with SLC7A5 or SLC7A8, involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. Together with ICAM1, regulates the transport activity LAT2 in polarized intestinal cells, by generating and delivering intracellular signals. When associated with SLC7A5, plays an important role in transporting L-leucine from the circulating blood to the retina across the inner blood-retinal barrier.
Description:
C4orf17 (chromosome 4 open reading frame 17) is a 359 amino acid protein encoded by a gene that maps to human chromosome 4. Human chromosome 4 represents approximately 6% of the human genome and 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 by a gene that is located 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.
Description:
C4orf17 (chromosome 4 open reading frame 17) is a 359 amino acid protein encoded by a gene that maps to human chromosome 4. Human chromosome 4 represents approximately 6% of the human genome and 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 by a gene that is located 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.
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