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ADK adenosine kinase [ Homo sapiens (human) ]

Gene ID: 132, updated on 26-May-2016
Official Symbol
ADKprovided by HGNC
Official Full Name
adenosine kinaseprovided by HGNC
Primary source
HGNC:HGNC:257
See related
Ensembl:ENSG00000156110 HPRD:00039; MIM:102750; Vega:OTTHUMG00000018506
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AK
Summary
This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Orthologs
Location:
10q22; 10q11-q24
Exon count:
13
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 10 NC_000010.11 (74151185..74709303)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (75910943..76469061)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene vinculin Neighboring gene adaptor related protein complex 3 mu 1 subunit Neighboring gene TIMM9 pseudogene 1 Neighboring gene ribosomal protein SA pseudogene 6 Neighboring gene RAB5C, member RAS oncogene family pseudogene 1 Neighboring gene uncharacterized LOC102723439 Neighboring gene mitochondrial ribosomal protein L35 pseudogene 3 Neighboring gene polymerase (RNA) III subunit D pseudogene 1 Neighboring gene family with sequence similarity 32, member C (pseudogene) Neighboring gene uncharacterized LOC101929165 Neighboring gene lysine acetyltransferase 6B

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Hypermethioninemia due to adenosine kinase deficiency
MedGen: C3280381 OMIM: 614300 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
NHGRI GWA Catalog
Genome-wide association study identifies four loci associated with eruption of permanent teeth.
NHGRI GWA Catalog
Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
NHGRI GWA Catalog
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of nucleotides, organism-specific biosystem (from REACTOME)
    Metabolism of nucleotides, organism-specific biosystemNucleotides and their derivatives are used for short-term energy storage (ATP, GTP), for intra- and extra-cellular signaling (cAMP; adenosine), as enzyme cofactors (NAD, FAD), and for the synthesis o...
  • Purine metabolism, organism-specific biosystem (from KEGG)
    Purine metabolism, organism-specific biosystem
    Purine metabolism
  • Purine metabolism, organism-specific biosystem (from REACTOME)
    Purine metabolism, organism-specific biosystemThe events of human purine metabolism are conveniently, if somewhat arbitrarily, grouped into four pathways: de novo synthesis of inosine 5'-monophosphate (IMP), the biosynthesis of other purine ribo...
  • Purine metabolism, conserved biosystem (from KEGG)
    Purine metabolism, conserved biosystem
    Purine metabolism
  • Purine salvage, organism-specific biosystem (from REACTOME)
    Purine salvage, organism-specific biosystemNucleosides and free bases generated by DNA and RNA breakdown are converted back to nucleotide monophosphates, allowing them to re-enter the pathway of purine biosynthesis. Nucleosides and free bases...
  • adenine and adenosine salvage II, organism-specific biosystem (from BIOCYC)
    adenine and adenosine salvage II, organism-specific biosystemAdenosine nucleotides can be synthesized de novo. In that route : AMP is synthesized via : IMP and : ADENYLOSUCC, which is converted to AMP by the action of : ASL-MONOMER, see : PWY-6126. Note that t...
  • adenine and adenosine salvage VI, conserved biosystem (from BIOCYC)
    adenine and adenosine salvage VI, conserved biosystemAdenosine nucleotides can be synthesized de novo. In that route |FRAME: AMP| (AMP) is synthesized via |FRAME: IMP| (IMP) and |FRAME: ADENYLOSUCC|, which is converted to AMP by the action of |FRAME: A...
  • superpathway of purine nucleotide salvage, organism-specific biosystem (from BIOCYC)
    superpathway of purine nucleotide salvage, organism-specific biosystemBackground Purine nucleotides participate in many aspects of cellular metabolism including the structure of DNA and RNA, serving as enzyme cofactors, functioning in cellular signaling, acting as pho...
  • superpathway of purine nucleotide salvage, conserved biosystem (from BIOCYC)
    superpathway of purine nucleotide salvage, conserved biosystemBackground Purine nucleotides participate in many aspects of cellular metabolism including the structure of DNA and RNA, serving as enzyme cofactors, functioning in cellular signaling, acting as pho...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
adenosine kinase activity EXP
Inferred from Experiment
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
AMP salvage IEA
Inferred from Electronic Annotation
more info
 
adenosine metabolic process IEA
Inferred from Electronic Annotation
more info
 
circadian regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
dATP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of T cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cardiac muscle hypertrophy IEA
Inferred from Electronic Annotation
more info
 
purine-containing compound salvage TAS
Traceable Author Statement
more info
 
ribonucleoside monophosphate biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
type B pancreatic cell proliferation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
Preferred Names
adenosine kinase
Names
adenosine 5'-phosphotransferase
testicular tissue protein Li 14
NP_001114.2
NP_001189378.1
NP_001189379.1
NP_006712.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_030484.1 RefSeqGene

    Range
    5001..563119
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001123.3NP_001114.2  adenosine kinase isoform a

    See identical proteins and their annotated locations for NP_001114.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), alternately referred to as ADK-short, represents the longest transcript and encodes isoform a.
    Source sequence(s)
    AI188809, AK290633, BC003568, BJ989861, BM472149
    Consensus CDS
    CCDS7344.1
    UniProtKB/Swiss-Prot
    P55263
    Related
    ENSP00000361819, OTTHUMP00000019865, ENST00000372734, OTTHUMT00000048765
    Conserved Domains (2) summary
    cd01168
    Location:6339
    adenosine_kinase; Adenosine kinase (AK) catalyzes the phosphorylation of ribofuranosyl-containing nucleoside analogues at the 5'-hydroxyl using ATP or GTP as the phosphate donor.The physiological function of AK is associated with the regulation of extracellular adenosine ...
    PTZ00247
    Location:9344
    PTZ00247; adenosine kinase; Provisional
  2. NM_001202449.1NP_001189378.1  adenosine kinase isoform c

    See identical proteins and their annotated locations for NP_001189378.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform c), compared to isoform a.
    Source sequence(s)
    AI188809, AK290633, AK302706, BC003568, BJ989861, BM472149
    Consensus CDS
    CCDS55717.1
    UniProtKB/Swiss-Prot
    P55263
    Related
    ENSP00000438321, ENST00000541550
    Conserved Domains (2) summary
    cd01168
    Location:6321
    adenosine_kinase; Adenosine kinase (AK) catalyzes the phosphorylation of ribofuranosyl-containing nucleoside analogues at the 5'-hydroxyl using ATP or GTP as the phosphate donor.The physiological function of AK is associated with the regulation of extracellular adenosine ...
    PTZ00247
    Location:9326
    PTZ00247; adenosine kinase; Provisional
  3. NM_001202450.1NP_001189379.1  adenosine kinase isoform d

    See identical proteins and their annotated locations for NP_001189379.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, initiates translation at an alternate start codon, and lacks an alternate in-frame exon in the coding region, compared to variant 1. This results in a shorter protein (isoform d), compared to isoform a.
    Source sequence(s)
    AI188809, AK290633, AK301590, BJ989861, DA356691
    Consensus CDS
    CCDS55716.1
    UniProtKB/Swiss-Prot
    P55263
    Related
    ENSP00000443965, ENST00000539909
    Conserved Domains (2) summary
    cd01168
    Location:23299
    adenosine_kinase; Adenosine kinase (AK) catalyzes the phosphorylation of ribofuranosyl-containing nucleoside analogues at the 5'-hydroxyl using ATP or GTP as the phosphate donor.The physiological function of AK is associated with the regulation of extracellular adenosine ...
    PTZ00247
    Location:26304
    PTZ00247; adenosine kinase; Provisional
  4. NM_006721.3NP_006712.2  adenosine kinase isoform b

    See identical proteins and their annotated locations for NP_006712.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), alternately referred to as ADK-long, differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) is longer than isoform a.
    Source sequence(s)
    AI188809, AK290633, BJ989861, DA356691, U90338
    Consensus CDS
    CCDS7343.1
    UniProtKB/Swiss-Prot
    P55263
    Related
    ENSP00000286621, OTTHUMP00000019864, ENST00000286621, OTTHUMT00000048763
    Conserved Domains (2) summary
    cd01168
    Location:23356
    adenosine_kinase; Adenosine kinase (AK) catalyzes the phosphorylation of ribofuranosyl-containing nucleoside analogues at the 5'-hydroxyl using ATP or GTP as the phosphate donor.The physiological function of AK is associated with the regulation of extracellular adenosine ...
    PTZ00247
    Location:26361
    PTZ00247; adenosine kinase; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

    Range
    74151185..74709303
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539297.1XP_011537599.1  

    Conserved Domains (2) summary
    cd01168
    Location:1328
    adenosine_kinase; Adenosine kinase (AK) catalyzes the phosphorylation of ribofuranosyl-containing nucleoside analogues at the 5'-hydroxyl using ATP or GTP as the phosphate donor.The physiological function of AK is associated with the regulation of extracellular adenosine ...
    PTZ00247
    Location:1333
    PTZ00247; adenosine kinase; Provisional

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 Alternate CHM1_1.1

    Range
    76192927..76750970
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)