Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
203 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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
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ADK, Adk1, CNSHA3, HTL-S-58j |
ChromosomeChromosome number
|
9 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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9q34.11 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
rs387906582 |
GTC>- |
Pathogenic |
Inframe deletion, coding sequence variant |
rs387906583 |
C>- |
Pathogenic |
5 prime UTR variant, frameshift variant, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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 |
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Sequence |
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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.
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Associated diseases
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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 |
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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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