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This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq, Jul 2008]
AK4 (Adenylate Kinase 4) is a Protein Coding gene. Diseases associated with AK4 include Reticular Dysgenesis and Amyloidosis, Familial Visceral. Among its related pathways are ATP/ITP metabolism and Thiamine metabolism. Gene Ontology (GO) annotations related to this gene include GTP binding and adenylate kinase activity. An important paralog of this gene is AK3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0004017 | NOT adenylate kinase activity | IDA | 11485571 |
GO:0004550 | nucleoside diphosphate kinase activity | IEA,IDA | 23416111 |
GO:0005515 | protein binding | IPI | 19130895 |
GO:0005524 | ATP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005739 | mitochondrion | IDA | 19766732 |
GO:0005759 | mitochondrial matrix | ISS,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | purine nucleotides de novo biosynthesis | ||
2 | Metabolism |
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|
|
3 | Metabolism of nucleotides | ||
4 | Thiamine metabolism | ||
5 | Tenofovir/Adefovir Pathway, Pharmacokinetics |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001889 | liver development | IEA | -- |
GO:0002082 | regulation of oxidative phosphorylation | IMP | 26980435 |
GO:0006139 | nucleobase-containing compound metabolic process | IEA | -- |
GO:0006163 | purine nucleotide metabolic process | IBA | 21873635 |
GO:0006165 | nucleoside diphosphate phosphorylation | IDA | 23416111 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Adefovir dipivoxil | Approved, Investigational | Pharma | Enzyme, substrate | 97 | ||
Tenofovir disoproxil | Approved, Investigational | Pharma | Enzyme, substrate | 0 | ||
Adenosine monophosphate | Approved, Investigational | Nutra | 0 | |||
ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
||
dADP |
|
2793-06-8 |
|
|||
Deoxyadenosine monophosphate |
|
653-63-4 |
|
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AK4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AK4 30 |
|
||
-- 31 |
|
ManyToMany | |||
Cow (Bos Taurus) |
Mammalia | AK4 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ak4 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ak4 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | AK4 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | AK4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | AK4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | AK4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ak4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ak4 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4221 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Adk3 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | ZK673.2 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ADK2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8262 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv173n100 | CNV | gain | 25217958 |
esv2230166 | CNV | deletion | 18987734 |
esv2446769 | CNV | deletion | 19546169 |
esv2658072 | CNV | deletion | 23128226 |
esv2676423 | CNV | deletion | 23128226 |
esv3563237 | CNV | deletion | 23714750 |
esv3577906 | CNV | loss | 25503493 |
esv3586276 | CNV | loss | 21293372 |
esv3586277 | CNV | loss | 21293372 |
nsv1137767 | CNV | deletion | 24896259 |
nsv1146559 | CNV | deletion | 26484159 |
nsv522027 | CNV | loss | 19592680 |
nsv945982 | CNV | duplication | 23825009 |
nsv945983 | CNV | duplication | 23825009 |
nsv945984 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
reticular dysgenesis |
|
|
amyloidosis, familial visceral |
|
|