InnateDB Protein
|
IDBP-79048.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
ADK
|
Protein Name
|
adenosine kinase
|
Synonyms
|
AK;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000286621
|
InnateDB Gene
|
IDBG-79046 (ADK)
|
Protein Structure
|
|
Function |
ATP dependent phosphorylation of adenosine and other related nucleoside analogs to monophosphate derivatives. Serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides.
|
Subcellular Localization |
Isoform 1: Nucleus.Isoform 2: Cytoplasm.
|
Disease Associations |
Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]: A metabolic disorder characterized by global developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia with increased levels of S- adenosylmethionine and S-adenosylhomocysteine. Homocysteine levels are typically normal. {ECO:0000269PubMed:21963049}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
Widely expressed. Highest level in placenta, liver, muscle and kidney.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
4
[view]
|
Protein-Protein |
3
[view]
|
Protein-DNA |
1
[view]
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR001805
Adenosine kinase
IPR011611
Carbohydrate kinase PfkB
IPR029056
Ribokinase-like
|
PFAM |
PF00294
|
PRINTS |
PR00989
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
P55263
|
PhosphoSite |
PhosphoSite-P55263
|
TrEMBL |
Q9HB33
|
UniProt Splice Variant |
|
Entrez Gene |
132
|
UniGene |
Hs.656586
|
RefSeq |
NP_006712
|
HUGO |
HGNC:257
|
OMIM |
102750
|
CCDS |
CCDS7343
|
HPRD |
00039
|
IMGT |
|
EMBL |
AC012046
AC022026
AC022540
AC091699
AF283990
AK290633
AK301590
AK302706
AL357037
AL731576
BC003568
CH471083
U33936
U50196
U90338
U90339
|
GenPept |
AAA97893
AAB01689
AAB50234
AAB50235
AAG13958
AAH03568
BAF83322
BAH13519
BAH13786
EAW54555
EAW54556
|
|
|