BC001116
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
21,635 Da
NCBI Official Full Name
Homo sapiens adenylate kinase 1, mRNA
NCBI Official Synonym Full Names
adenylate kinase 1
NCBI Official Synonym Symbols
NCBI Protein Information
adenylate kinase isoenzyme 1
UniProt Protein Name
Adenylate kinase isoenzyme 1
UniProt Synonym Protein Names
ATP-AMP transphosphorylase 1
UniProt Synonym Gene Names
UniProt Entry Name
KAD1_HUMAN
NCBI Summary for AK1
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. [provided by RefSeq, Dec 2015]
UniProt Comments for AK1
AK1: Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Small ubiquitous enzyme involved in energy metabolism and nucleotide synthesis that is essential for maintenance and cell growth. Defects in AK1 are the cause of hemolytic anemia due to adenylate kinase deficiency (HAAKD). Belongs to the adenylate kinase family.
Protein type: Nucleotide Metabolism - purine; Kinase, other; EC 2.7.4.6; EC 2.7.4.3
Chromosomal Location of Human Ortholog: 9q34.1
Cellular Component: cytoplasm; cytosol
Molecular Function: adenylate kinase activity; nucleoside diphosphate kinase activity
Biological Process: nucleobase, nucleoside and nucleotide interconversion; nucleoside diphosphate phosphorylation; nucleoside triphosphate biosynthetic process
Disease: Adenylate Kinase Deficiency, Hemolytic Anemia Due To
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Pathways associated with AK1 cdna clone
Diseases associated with AK1 cdna clone
Organs/Tissues associated with AK1 cdna clone
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