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Aliases for ADK Gene

Aliases for ADK Gene

  • Adenosine Kinase 2 3 5
  • Adenosine 5-Phosphotransferase 2 3 4
  • EC 2.7.1.20 4 61
  • AK 3 4
  • Testicular Tissue Protein Li 14 3
  • EC 2.7.1 61

External Ids for ADK Gene

Previous GeneCards Identifiers for ADK Gene

  • GC10P074865
  • GC10P075014
  • GC10P075803
  • GC10P075255
  • GC10P075580
  • GC10P075910
  • GC10P069907

Summaries for ADK Gene

Entrez Gene Summary for ADK Gene

  • 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]

GeneCards Summary for ADK Gene

ADK (Adenosine Kinase) is a Protein Coding gene. Diseases associated with ADK include Hypermethioninemia Due To Adenosine Kinase Deficiency and Rasmussen Encephalitis. Among its related pathways are Metabolism and purine nucleotides de novo biosynthesis. GO annotations related to this gene include poly(A) RNA binding and adenosine kinase activity.

UniProtKB/Swiss-Prot for ADK Gene

  • 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.

Tocris Summary for ADK Gene

  • Adenosine kinase (ADK) is a highly conserved monomeric enzyme that constitutes the primary route of adenosine metabolism under normal conditions. ADK decreases intracellular adenosine levels by catalyzing its conversion into AMP and ADP, using ATP as a phosphate donor.

Gene Wiki entry for ADK Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADK Gene

Genomics for ADK Gene

Regulatory Elements for ADK Gene

Enhancers for ADK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F074164 1.4 FANTOM5 Ensembl ENCODE 51.5 +16.1 16100 5.8 HDGF PKNOX1 NFXL1 RAD21 ZBTB40 SCRT2 CEBPB REST TBX21 SMARCA4 ADK CFAP70 NDST2 GC10P074285
GH10F074226 1.4 FANTOM5 Ensembl ENCODE 30.5 +76.9 76862 2.7 HDGF PKNOX1 ZNF133 JUN BACH1 ZNF644 ZNF316 ZNF766 FOS NFE2 ADK AP3M1 ENSG00000227186 ENSG00000234149 ZSWIM8 ENSG00000272140 NDST2 CAMK2G GC10P074285
GH10F074054 1.2 Ensembl ENCODE 33.8 -94.1 -94148 4.7 BMI1 RAD21 ZBTB40 ZEB1 GATA2 SCRT2 RCOR1 ETV6 CREM SMARCA5 ADK VCL C10orf55 CAMK2G ENSG00000229990 GC10P074056 GC10M074121
GH10F074174 1.2 ENCODE 33.5 +25.9 25854 5.5 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 AP3M1 ADK ENSG00000272140 ZSWIM8 BMS1P4 ENSG00000242288 GLUD1P3 DUSP8P5 AGAP5 ENSG00000268584
GH10F074045 1.2 Ensembl ENCODE 33.3 -101.8 -101797 6.8 TBP PKNOX1 INSM2 BMI1 FEZF1 ZBTB40 ZNF2 RFX5 ZNF366 SCRT2 ADK VCL CAMK2G C10orf55 PLAU ENSG00000229990 GC10P074056 ENSG00000225761
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ADK on UCSC Golden Path with GeneCards custom track

Promoters for ADK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000116573 15 3601 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for ADK Gene

Chromosome:
10
Start:
74,151,185 bp from pter
End:
74,709,303 bp from pter
Size:
558,119 bases
Orientation:
Plus strand

Genomic View for ADK Gene

Genes around ADK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADK Gene

Proteins for ADK Gene

  • Protein details for ADK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55263-ADK_HUMAN
    Recommended name:
    Adenosine kinase
    Protein Accession:
    P55263
    Secondary Accessions:
    • B7Z783
    • B7Z800
    • O00741
    • O00742
    • Q16710
    • Q5JQ10
    • Q5JQ11
    • Q9BTN2

    Protein attributes for ADK Gene

    Size:
    362 amino acids
    Molecular mass:
    40545 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAB01689.1; Type=Frameshift; Positions=17; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ADK Gene

    Alternative splice isoforms for ADK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADK Gene

Selected DME Specific Peptides for ADK Gene

P55263:
  • TESEVTA
  • KHKELFDELV
  • AGFFLTVSPES
  • MGNPLLD
  • FTQGRDDT
  • ANLAAANCYKKEKHLDLE
  • DTNGAGDAF
  • FVGGFLSQLV

Post-translational modifications for ADK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for ADK Gene

Gene Families for ADK Gene

Graphical View of Domain Structure for InterPro Entry

P55263

UniProtKB/Swiss-Prot:

ADK_HUMAN :
  • Belongs to the carbohydrate kinase PfkB family.
Family:
  • Belongs to the carbohydrate kinase PfkB family.
genes like me logo Genes that share domains with ADK: view

Function for ADK Gene

Molecular function for ADK Gene

GENATLAS Biochemistry:
adenosine kinase,38.7kDa
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + adenosine = ADP + AMP.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for ADK Gene

Gene Ontology (GO) - Molecular Function for ADK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004001 adenosine kinase activity IBA,TAS --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016773 phosphotransferase activity, alcohol group as acceptor IEA --
genes like me logo Genes that share ontologies with ADK: view
genes like me logo Genes that share phenotypes with ADK: view

Human Phenotype Ontology for ADK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADK Gene

MGI Knock Outs for ADK:

Animal Model Products

  • Taconic Biosciences Mouse Models for ADK

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ADK Gene

Localization for ADK Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADK Gene

Isoform 1: Nucleus.
Isoform 2: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADK gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 3
plasma membrane 2
extracellular 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for ADK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ADK: view

Pathways & Interactions for ADK Gene

genes like me logo Genes that share pathways with ADK: view

Pathways by source for ADK Gene

UniProtKB/Swiss-Prot P55263-ADK_HUMAN

  • Pathway: Purine metabolism; AMP biosynthesis via salvage pathway; AMP from adenosine: step 1/1.

Gene Ontology (GO) - Biological Process for ADK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006166 purine ribonucleoside salvage IEA --
GO:0006167 AMP biosynthetic process IEA --
GO:0006169 adenosine salvage IBA --
GO:0006175 dATP biosynthetic process IEA --
GO:0009156 ribonucleoside monophosphate biosynthetic process TAS 9070863
genes like me logo Genes that share ontologies with ADK: view

No data available for SIGNOR curated interactions for ADK Gene

Drugs & Compounds for ADK Gene

(57) Drugs for ADK Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ribavirin Approved Pharma Target, Enzyme, activator, substrate 984
Adenosine Approved, Investigational Pharma Agonist, Enzyme, substrate 397
Adenosine monophosphate Approved Nutra Target, product of 0
Adenosine triphosphate Approved Nutra Enzyme, substrate 0
Abacavir Approved, Investigational Pharma Enzyme, substrate 211

(28) Additional Compounds for ADK Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0

(1) Tocris Compounds for ADK Gene

Compound Action Cas Number
ABT 702 dihydrochloride Adenosine kinase inhibitor; orally active 1188890-28-9

(2) ApexBio Compounds for ADK Gene

Compound Action Cas Number
5-Iodotubercidin Adenosine kinase inhibitor,potent 24386-93-4
ABT 702 dihydrochloride Adenosine kinase inhibitor 1188890-28-9
genes like me logo Genes that share compounds with ADK: view

Drug Products

Transcripts for ADK Gene

Unigene Clusters for ADK Gene

Adenosine kinase:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADK Gene

No ASD Table

Relevant External Links for ADK Gene

GeneLoc Exon Structure for
ADK
ECgene alternative splicing isoforms for
ADK

Expression for ADK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ADK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADK Gene

This gene is overexpressed in Liver (x4.4).

Protein differential expression in normal tissues from HIPED for ADK Gene

This gene is overexpressed in Oral epithelium (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ADK Gene



Protein tissue co-expression partners for ADK Gene

NURSA nuclear receptor signaling pathways regulating expression of ADK Gene:

ADK

SOURCE GeneReport for Unigene cluster for ADK Gene:

Hs.656586

mRNA Expression by UniProt/SwissProt for ADK Gene:

P55263-ADK_HUMAN
Tissue specificity: Widely expressed. Highest level in placenta, liver, muscle and kidney.
genes like me logo Genes that share expression patterns with ADK: view

Orthologs for ADK Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ADK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADK 34 35
  • 99.72 (n)
cow
(Bos Taurus)
Mammalia -- 35
  • 94 (a)
OneToMany
ADK 34
  • 92.71 (n)
-- 35
  • 85 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ADK 34 35
  • 92.63 (n)
mouse
(Mus musculus)
Mammalia Adk 34 16 35
  • 89.44 (n)
rat
(Rattus norvegicus)
Mammalia Adk 34
  • 87.22 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 80 (a)
OneToMany
-- 35
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ADK 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADK 34 35
  • 82.17 (n)
lizard
(Anolis carolinensis)
Reptilia ADK 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adk 34
  • 76.2 (n)
Str.1953 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.28433 34
zebrafish
(Danio rerio)
Actinopterygii adkb 35 35
  • 79 (a)
OneToMany
adka 34 35
  • 72.35 (n)
Dr.4408 34
fruit fly
(Drosophila melanogaster)
Insecta CG11255 36 34 35
  • 55.36 (n)
CG3809 36 35
  • 41 (a)
Ady43A 35
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R07H5.8 36 34 35
  • 55.85 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADO1 35 37
  • 39 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons ADK1 34
  • 60.26 (n)
soybean
(Glycine max)
eudicotyledons Gma.7688 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7628 34
rice
(Oryza sativa)
Liliopsida Os04g0518000 34
  • 61.05 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.3882 34
wheat
(Triticum aestivum)
Liliopsida Ta.3437 34
corn
(Zea mays)
Liliopsida Zm.247 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2861 35
  • 51 (a)
OneToOne
Species where no ortholog for ADK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ADK Gene

ENSEMBL:
Gene Tree for ADK (if available)
TreeFam:
Gene Tree for ADK (if available)

Paralogs for ADK Gene

No data available for Paralogs for ADK Gene

Variants for ADK Gene

Sequence variations from dbSNP and Humsavar for ADK Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs397514452 Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300], Pathogenic 74,670,258(+) AGATG(A/C)ATTTG reference, missense
rs397514453 Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300], Pathogenic 74,525,404(+) TGTTG(A/C)TATAC intron-variant, reference, missense
rs397514454 Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300], Pathogenic 74,200,787(+) AATGG(A/G)AAATC reference, missense
rs786205458 Likely pathogenic 74,589,296(+) ACTTT(A/T)GCTAG reference, missense
rs10128407 -- 74,210,159(+) ACCCC(A/G)TCTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ADK Gene

Variant ID Type Subtype PubMed ID
dgv112n27 CNV loss 19166990
dgv1265n54 CNV loss 21841781
dgv1266n54 CNV loss 21841781
dgv925n100 CNV loss 25217958
esv2466100 CNV deletion 19546169
esv2567854 CNV deletion 19546169
esv2641301 CNV deletion 19546169
esv2659855 CNV deletion 23128226
esv2661407 CNV deletion 23128226
esv2661426 CNV deletion 23128226
esv2669986 CNV deletion 23128226
esv2677955 CNV deletion 23128226
esv34143 CNV loss 18971310
esv3546514 CNV deletion 23714750
esv3578976 CNV loss 25503493
esv3623825 CNV loss 21293372
esv3623826 CNV gain 21293372
esv3623827 CNV loss 21293372
esv3623828 CNV loss 21293372
esv3623830 CNV loss 21293372
esv3623831 CNV loss 21293372
esv3623832 CNV gain 21293372
esv3623834 CNV loss 21293372
esv3891861 CNV loss 25118596
nsv1039128 CNV loss 25217958
nsv1046267 CNV gain 25217958
nsv1068703 CNV deletion 25765185
nsv1113313 CNV deletion 24896259
nsv1152988 CNV duplication 26484159
nsv475521 CNV novel sequence insertion 20440878
nsv507561 OTHER sequence alteration 20534489
nsv515824 CNV gain+loss 19592680
nsv551528 CNV loss 21841781
nsv7165 CNV insertion 18451855
nsv948071 CNV duplication 23825009
nsv948072 CNV duplication 23825009
nsv950977 CNV duplication 24416366
nsv971906 CNV deletion 23825009

Variation tolerance for ADK Gene

Residual Variation Intolerance Score: 22.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.40; 8.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADK Gene

Human Gene Mutation Database (HGMD)
ADK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADK Gene

Disorders for ADK Gene

MalaCards: The human disease database

(5) MalaCards diseases for ADK Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypermethioninemia due to adenosine kinase deficiency
  • hypermethioninemia encephalopathy due to adenosine kinase deficiency
rasmussen encephalitis
  • re
skin sarcoidosis
  • cutaneous sarcoid
hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase
  • hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency
adenosine deaminase deficiency
  • severe combined immunodeficiency due to ada deficiency
- elite association - COSMIC cancer census association via MalaCards
Search ADK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ADK_HUMAN
  • 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:0000269 PubMed:21963049}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ADK

Genetic Association Database (GAD)
ADK
Human Genome Epidemiology (HuGE) Navigator
ADK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADK
genes like me logo Genes that share disorders with ADK: view

No data available for Genatlas for ADK Gene

Publications for ADK Gene

  1. Cloning of human adenosine kinase cDNA: sequence similarity to microbial ribokinases and fructokinases. (PMID: 8577746) Spychala J. … Mitchell B.S. (Proc. Natl. Acad. Sci. U.S.A. 1996) 2 3 4 22 64
  2. Subcellular localization of adenosine kinase in mammalian cells: The long isoform of AdK is localized in the nucleus. (PMID: 19635462) Cui X.A. … Gupta R.S. (Biochem. Biophys. Res. Commun. 2009) 3 4 22 64
  3. Structure of human adenosine kinase at 1.5-A resolution. (PMID: 9843365) Mathews I.I. … Ealick S.E. (Biochemistry 1998) 3 4 22 64
  4. Cloning and expression of the adenosine kinase gene from rat and human tissues. (PMID: 9070863) McNally T. … Halbert D.N. (Biochem. Biophys. Res. Commun. 1997) 3 4 22 64
  5. Cloning and characterization of cDNA for adenosine kinase from mammalian (Chinese hamster, mouse, human and rat) species. High frequency mutants of Chinese hamster ovary cells involve structural alterations in the gene. (PMID: 8917457) Singh B. … Gupta R.S. (Eur. J. Biochem. 1996) 3 4 22 64

Products for ADK Gene

Sources for ADK Gene

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