Snx19 [Search on AGR]
Homo sapiens ENCODES a protein that exhibits lipid binding (inferred); phosphatidylinositol binding (inferred); phosphatidylinositol-3-phosphate binding (inferred); INVOLVED IN chondrocyte differentiation; dense core granule maturation; insulin secretion; ASSOCIATED WITH Chromosome 11, Partial Trisomy 11q; Dwarfism; Jacobsen Syndrome; FOUND IN cytoplasm; INTERACTS WITH aflatoxin B1; aristolochic acid A; atrazine
FRA11B [Search on AGR]
Homo sapiens This biological region is known as FRA11B, and is found within the 5' untranslated region of the Cbl proto-oncogene (CBL) gene on the q arm of chromosome 11, and contains a CGG/CCG trinucleotide repeat. Somatic variability at this locus has been observed, and expansions of this repeat cause fragility at this folate-sensitive fragile site. Expansions resulting in repeats with a copy number of up to 800 have been observed. Experiments suggest that expansion of the trinucleotide repeat may cause hypermethylation of the DNA in this region. Chromosomal breakpoints in Jacobsen syndrome deletions have been mapped close to this region. [provided by RefSeq, Dec 2016]
Cbl [Search on AGR]
Homo sapiens This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016]