Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | ADK | contributors: mct - updated : 16-10-2009 |
HGNC name | adenosine kinase |
HGNC id | 257 |
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Corresponding disease |
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Location | 10q22.2 Physical location : 75.910.964 - 76.469.059 | ||
Synonym name | adenosine 5'-phosphotransferase | ||
Synonym symbol(s) | AK | ||
EC.number | 2.7.1.20 |
DNA |
TYPE | functioning gene |
SPECIAL FEATURE | head to head, opposite orientation |
text | head to head arranged with HPS |
STRUCTURE | 558.10 kb 11 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
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MAPPING | cloned | Y | linked | N | status | confirmed |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | widely |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cell lineage
cell lines
| fluid/secretion
| |
at STAGE |
physiological period | pregnancy |
Text | placenta |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
motifs/domains
|
mono polymer | monomer |
HOMOLOGY |
interspecies | homolog to murine Adk (91.4pc) |
homolog to rattus Adk (90.3pc) |
Homologene |
FAMILY |
CATEGORY | enzyme , regulatory |
SUBCELLULAR LOCALIZATION | intracellular |
intracellular,cytoplasm,organelle,mitochondria |
basic FUNCTION | |
|
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism | purine/pyrimidine |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule | metal binding, |
protein |
cell & other |
REGULATION |
repressed by | HIF1 upon hypoxia, thus attenuating vascular leak (Morote-Garcia 2008) |
ASSOCIATED DISORDERS |
corresponding disease(s) | ADKD |
Other morbid association(s) |
|
Susceptibility |
Variant & Polymorphism
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Candidate gene
Marker
| Therapy target
|
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ANIMAL & CELL MODELS |
In homozygous Adk -/- mice, embryonic stem cells developed normally during embryogenesis. However, within 4 days after birth they displayed microvesicular hepatic steatosis and died within 14 days with fatty liver. Thus, a deficiency of adenosine metabolism is identified as a powerful contributor to the development of neonatal hepatic steatosis, providing a model for the rapid development of postnatally lethal fatty liver (Boison 2002) |