Description
Product Characteristics:
HEATR3 is a 680 amino acid protein existing as three alternatively spliced isoforms and containing two HEAT (Huntingtin, elongation factor 3 (EF3), protein phosphatase 2A (PP2A) and the yeast PI3-kinase Tor1) repeats. HEAT repeats form rod-like helical structures that are involved in intracellular transport. HEATR3 is encoded by a gene located on human chromosome 16, which encodes over 900 genes and comprises nearly 3 % of the human genome. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, as is Crohn's disease, a gastrointestinal inflammatory condition.
Subcellular location: Cytoplasm, Nucleus
Synonyms: HEAT repeat-containing protein 3, HEAT repeat containing 3, HEAT3_HUMAN, Heatr3.
Target Information: The protein encoded by this gene plays a role in ribosomal protein transport and in the assembly of the 5S ribonucleoprotein particle (5S RNP). The encoded protein also may be involved in NOD2-mediated NF-kappaB signaling. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in appendix (RPKM 5.5), spleen (RPKM 4.5) and 25 other tissues