ADK adenosine kinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADKprovided by HGNC
Official Full Name: adenosine kinaseprovided by HGNC
Primary source: HGNC:HGNC:257
See related: Ensembl:ENSG00000156110 MIM:102750; AllianceGenome:HGNC:257
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]
Expression: Ubiquitous expression in liver (RPKM 10.9), thyroid (RPKM 8.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.2; 10q11-q24

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (74151221..74709290)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (75022606..75580765)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (75910979..76469048)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Adenosine kinase inhibits beta-cell proliferation by upregulating DNA methyltransferase 3A expression.
Title: Adenosine kinase inhibits β-cell proliferation by upregulating DNA methyltransferase 3A expression.
Hepatocyte Adenosine Kinase Promotes Excessive Fat Deposition and Liver Inflammation.
Title: Hepatocyte Adenosine Kinase Promotes Excessive Fat Deposition and Liver Inflammation.
Genetic variations of adenosine kinase as predictable biomarkers of efficacy of vagus nerve stimulation in patients with pharmacoresistant epilepsy.
Title: Genetic variations of adenosine kinase as predictable biomarkers of efficacy of vagus nerve stimulation in patients with pharmacoresistant epilepsy.
Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia.
Title: Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia.
The results of this study showed that over-expression of the major adenosine removing enzyme ADK in reactive astrocytes and subpopulation of remaining neurons in Rasmussen Encephalitis patients plays an important role in the epileptogensis of Rasmussen Encephalitis.
Title: Upregulation of Neuronal Adenosine A1 Receptor in Human Rasmussen Encephalitis.
ADA and ADK are involved in glioma progression; increased ADA and ADK levels in peritumoral tissues may be associated with epilepsy in glioma patients.
Title: Adenosine deaminase and adenosine kinase expression in human glioma and their correlation with glioma‑associated epilepsy.
rs11001109 rare allele homozygosity is associated with increased risk of post-traumatic epilepsy development after brain injury.
Title: Genetic variation in the adenosine regulatory cycle is associated with posttraumatic epilepsy development.
The results of this study suggest that upregulation of ADK is a common pathologic component of FCDIIB.
Title: Adenosine kinase expression in cortical dysplasia with balloon cells: analysis of developmental lineage of cell types.
These results suggest that upregulation of ADK is a common pathologic hallmark of Rasmussen encephalitis and that ADK might be a target in the treatment of epilepsy associated with Rasmussen encephalitis.
Title: Upregulation of adenosine kinase in Rasmussen encephalitis.
Data show that we a significantly higher expression of ADK in the peritumoral infiltrated tissue of patients with epilepsy than in patients without epilepsy.
Title: Overexpression of ADK in human astrocytic tumors and peritumoral tissue is related to tumor-associated epilepsy.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Adenosine kinase deficiency MedGen: C4706555 OMIM: 614300 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association analyses identify variants in developmental genes associated with hypospadias. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies four loci associated with eruption of permanent teeth. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-147556 (e-PCR)
- UniSTS:175874

G32946 (e-PCR)
- UniSTS:117524

D10S2150 (e-PCR)
- UniSTS:81184

RH46197 (e-PCR)
- UniSTS:59424

RH66362 (e-PCR)
- UniSTS:4385

SHGC-32599 (e-PCR)
- UniSTS:24103

STS-U50196 (e-PCR)
- UniSTS:3883

STS-AA010164 (e-PCR)
- UniSTS:8045

A009X23 (e-PCR)
- UniSTS:82798

RH70656 (e-PCR)
- UniSTS:11640

G19645 (e-PCR)
- UniSTS:62603

A001U01 (e-PCR)
- UniSTS:62604

SHGC-34979 (e-PCR)
- UniSTS:41381

D10S2150 (e-PCR)
- UniSTS:67239

RH1569 (e-PCR)
- UniSTS:74672

SHGC-132142 (e-PCR)
- UniSTS:182192

IB2229 (e-PCR)
- UniSTS:51381

D10S535 (e-PCR), detects polymorphism
- UniSTS:22974

D10S2218 (e-PCR)
- UniSTS:55745

WI-11741 (e-PCR)
- UniSTS:20470

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables adenosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables deoxyadenosine kinase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in AMP salvage	IEA Inferred from Electronic Annotation more info
involved_in GMP salvage	IEA Inferred from Electronic Annotation more info
involved_in dAMP salvage	IEA Inferred from Electronic Annotation more info
involved_in dATP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in purine nucleobase metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in purine ribonucleoside salvage	IEA Inferred from Electronic Annotation more info
involved_in ribonucleoside monophosphate biosynthetic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: adenosine kinase

Names: adenosine 5'-phosphotransferase; testicular tissue protein Li 14

NP_001114.2

EC 2.7.1.20

NP_001189378.1

EC 2.7.1.20

NP_001189379.1

EC 2.7.1.20

NP_001356052.1

EC 2.7.1.20

NP_001356053.1

EC 2.7.1.20

NP_006712.2

EC 2.7.1.20

XP_016871187.1

EC 2.7.1.20

XP_016871188.1

EC 2.7.1.20

XP_016871191.1

EC 2.7.1.20

XP_016871192.1

EC 2.7.1.20

XP_016871193.1

EC 2.7.1.20

XP_016871194.1

EC 2.7.1.20

XP_016871195.1

EC 2.7.1.20

XP_047280576.1

EC 2.7.1.20

XP_047280577.1

EC 2.7.1.20

XP_054220796.1

EC 2.7.1.20

XP_054220797.1

EC 2.7.1.20

XP_054220798.1

EC 2.7.1.20

XP_054220799.1

EC 2.7.1.20

XP_054220800.1

EC 2.7.1.20

XP_054220801.1

EC 2.7.1.20

XP_054220802.1

EC 2.7.1.20

XP_054220803.1

EC 2.7.1.20

XP_054220804.1

EC 2.7.1.20

NCBI Reference Sequences (RefSeq)

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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

NG_030484.2 RefSeqGene

Range

5037..563106

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001123.4 → NP_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/TrEMBL

A0A140VJE0, Q86U79

Related

ENSP00000361819.3, ENST00000372734.5

Conserved Domains (1) summary

cl00192
Location:12 → 344

ribokinase_pfkB_like; ribokinase/pfkB superfamily: Kinases that accept a wide variety of substrates, including carbohydrates and aromatic small molecules, all are phosphorylated at a hydroxyl group. The superfamily includes ribokinase, fructokinase, ketohexokinase, ...
NM_001202449.2 → NP_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/TrEMBL

Q86U79

Related

ENSP00000500201.1, ENST00000673027.1

Conserved Domains (2) summary

PTZ00247
Location:9 → 326

PTZ00247; adenosine kinase; Provisional

cl00192
Location:12 → 326

ribokinase_pfkB_like; ribokinase/pfkB superfamily: Kinases that accept a wide variety of substrates, including carbohydrates and aromatic small molecules, all are phosphorylated at a hydroxyl group. The superfamily includes ribokinase, fructokinase, ketohexokinase, ...
NM_001202450.2 → NP_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

Consensus CDS

CCDS55716.1

UniProtKB/TrEMBL

Q86U79

Related

ENSP00000500292.1, ENST00000672429.1

Conserved Domains (1) summary

cl00192
Location:29 → 304

ribokinase_pfkB_like; ribokinase/pfkB superfamily: Kinases that accept a wide variety of substrates, including carbohydrates and aromatic small molecules, all are phosphorylated at a hydroxyl group. The superfamily includes ribokinase, fructokinase, ketohexokinase, ...
NM_001369123.1 → NP_001356052.1 adenosine kinase isoform e

Status: REVIEWED

Source sequence(s)

AC012046, AC022026, AC022540, AC091699, AL357037, AL731576

Consensus CDS

CCDS91270.1

UniProtKB/TrEMBL

A0A5F9ZH31

Related

ENSP00000500056.1, ENST00000673352.1

Conserved Domains (1) summary

cl00192
Location:29 → 254

ribokinase_pfkB_like; ribokinase/pfkB superfamily: Kinases that accept a wide variety of substrates, including carbohydrates and aromatic small molecules, all are phosphorylated at a hydroxyl group. The superfamily includes ribokinase, fructokinase, ketohexokinase, ...
NM_001369124.1 → NP_001356053.1 adenosine kinase isoform f

Status: REVIEWED

Source sequence(s)

AC012046, AC022026, AC091699, AL357037, AL731576

UniProtKB/TrEMBL

Q86U79

Conserved Domains (1) summary

cl00192
Location:12 → 287

ribokinase_pfkB_like; ribokinase/pfkB superfamily: Kinases that accept a wide variety of substrates, including carbohydrates and aromatic small molecules, all are phosphorylated at a hydroxyl group. The superfamily includes ribokinase, fructokinase, ketohexokinase, ...
NM_006721.4 → NP_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)

AK301590, HM005327, U90338

Consensus CDS

CCDS7343.1

UniProtKB/Swiss-Prot

B7Z783, B7Z800, O00741, O00742, P55263, Q16710, Q5JQ10, Q5JQ11, Q9BTN2

UniProtKB/TrEMBL

Q86U79

Related

ENSP00000443965.2, ENST00000539909.6

Conserved Domains (1) summary

cl00192
Location:29 → 361

ribokinase_pfkB_like; ribokinase/pfkB superfamily: Kinases that accept a wide variety of substrates, including carbohydrates and aromatic small molecules, all are phosphorylated at a hydroxyl group. The superfamily includes ribokinase, fructokinase, ketohexokinase, ...