PAK1, Official Symbol PAK1provided by HGNC Official Full Name p21 (RAC1) activated kinase 1provided by HGNC Primary source HGNC:HGNC:8590 See related Ensembl:ENSG00000149269 MIM:602590; AllianceGenome:HGNC:8590 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 IDDMSSD; p65-PAK; PAKalpha; alpha-PAK Summary This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Mutations in this gene have been associated with macrocephaly, seizures, and speech delay. Overexpression of this gene is also reported in many cancer types, and particularly in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2020] Expression Ubiquitous expression in brain (RPKM 55.5), thyroid (RPKM 19.6) and 23 other tissues See more Orthologs mouse all