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AK1 (adenylate kinase 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
203
Gene nameGene Name - the full gene name approved by the HGNC.
Adenylate kinase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
AK1
SynonymsGene synonyms aliases
ADK, Adk1, CNSHA3, HTL-S-58j
ChromosomeChromosome number
9
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.11
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Purine metabolism
Thiamine metabolism
Metabolic pathways
Nucleotide metabolism
Biosynthesis of cofactors
  Interconversion of nucleotide di- and triphosphates
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anemia Anemia, Hemolytic rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Hemolytic anemia Hemolytic anemia due to adenylate kinase deficiency rs104894025, rs104894026, rs397518435, rs397518436, rs104894027, rs397518437, rs104894028, rs397518438, rs104894029, rs137853583, rs137853585, rs137853586, rs137853587, rs267606851, rs267606852, rs267606853, rs137853249, rs33924146, rs104894101, rs104894102, rs137853203, rs137853204, rs137853205, rs387906582, rs387906583, rs398122379, rs1064794848, rs774419705, rs1555367318, rs1345036090, rs1586033745, rs1571436535, rs2022057
Unknown
Disease name Disease term dbSNP ID References
Adenylate kinase deficiency, hemolytic anemia Adenylate Kinase Deficiency, Hemolytic Anemia Due To 10233365, 2542324, 28211224, 9432020, 12649162
Malignant lymphoma, lymphocytic, intermediate differentiation Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse 23676220
Lymphoma, lymphocytic, intermediate Lymphoma, Lymphocytic, Intermediate 23676220
Myocardial ischemia Myocardial Ischemia 16214533

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