Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
203
Gene name Gene Name - the full gene name approved by the HGNC.
Adenylate kinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AK1
Synonyms (NCBI Gene) Gene synonyms aliases
ADK, Adk1, CNSHA3, HTL-S-58j
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CNSHA3
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.11
Summary Summary of gene provided in NCBI Entrez Gene.
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 mut
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs104894101 G>A Pathogenic Coding sequence variant, missense variant
rs104894102 G>A Pathogenic Coding sequence variant, stop gained
rs137853203 T>C Pathogenic Coding sequence variant, missense variant
rs137853204 C>T Pathogenic Coding sequence variant, 5 prime UTR variant, missense variant
rs137853205 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT051000 hsa-miR-17-5p CLASH 23622248
MIRT039155 hsa-miR-769-5p CLASH 23622248
MIRT673090 hsa-miR-500b-3p HITS-CLIP 23824327
MIRT673089 hsa-miR-6773-3p HITS-CLIP 23824327
MIRT673088 hsa-miR-215-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004017 Function Adenylate kinase activity IBA 21873635
GO:0004550 Function Nucleoside diphosphate kinase activity IDA 23416111
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005829 Component Cytosol IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
103000 361 ENSG00000106992
Protein
UniProt ID P00568
Protein name Adenylate kinase isoenzyme 1 (AK 1) (EC 2.7.4.3) (EC 2.7.4.4) (EC 2.7.4.6) (ATP-AMP transphosphorylase 1) (ATP:AMP phosphotransferase) (Adenylate monophosphate kinase) (Myokinase)
Protein function Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism (By si
PDB 1Z83 , 2C95 , 7DE3 , 7X7S , 8X1G
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00406 ADK 13 169 Domain
Sequence
Sequence length 194
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Purine metabolism
Thiamine metabolism
Metabolic pathways
Nucleotide metabolism
Biosynthesis of cofactors
  Interconversion of nucleotide di- and triphosphates
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia, Hemolytic rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Hemolytic anemia Hemolytic anemia due to adenylate kinase deficiency rs104894025, rs104894026, rs397518435, rs397518436, rs104894027, rs397518437, rs104894028, rs397518438, rs104894029, rs137853583, rs137853585, rs137853586, rs137853587, rs267606851, rs267606852
View all (18 more)
Unknown
Disease term Disease name Evidence References Source
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 31444368
Adenylate Kinase Deficiency Hemolytic Anemia Due To Associate 10233365, 17662886, 2542324, 34321014, 9432020
Anemia Hemolytic Associate 10233365, 17662886, 35509045, 9432020
Anemia Hemolytic Congenital Nonspherocytic Associate 34321014
Breast Neoplasms Associate 20543960
Carcinoma Renal Cell Associate 30198869
Colorectal Neoplasms Associate 35285580
Dystonia Associate 1867195
Esophageal Neoplasms Associate 33794814
Fibrosis Associate 37462883