AK1, Official Symbol AK1provided by HGNC Official Full Name adenylate kinase 1provided by HGNC Primary source HGNC:HGNC:361 See related Ensembl:ENSG00000106992 MIM:103000; AllianceGenome:HGNC:361 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 HTL-S-58j Summary This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene shares readthrough transcripts with the upstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022] Expression Ubiquitous expression in heart (RPKM 35.4), lung (RPKM 29.7) and 25 other tissues See more Orthologs mouse all