CUL3, Official Symbol CUL3provided by HGNC Official Full Name cullin 3provided by HGNC Primary source HGNC:HGNC:2553 See related Ensembl:ENSG00000036257 MIM:603136; AllianceGenome:HGNC:2553 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CUL-3; PHA2E; NEDAUS Summary This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core component and scaffold protein of an E3 ubiquitin ligase complex. Complexes including the encoded protein may also play a role in late endosome maturation. Mutations in this gene are a cause of type 2E pseudohypoaldosteronism. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012] Expression Broad expression in testis (RPKM 53.6), esophagus (RPKM 12.6) and 24 other tissues See more Orthologs mouse all