AK1 (adenylate kinase 1)

Gene Basic Information

Gene Basic Information

symbol
AK1
locus group
protein-coding gene
location
9q34.11
gene_family
Adenylate kinases
alias symbol
-
alias name
None
entrez id
203
ensembl gene id
ENSG00000106992
ucsc gene id
uc004bsm.4
refseq accession
NM_000476
hgnc_id
HGNC:361
approved reserved
1986-01-01

Chromosome Location

Chromosome Location

9q34.11

Gene Summary

Gene Summary

ChineseEnglish

Adenylate kinase is an enzyme involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate group among adinine nucleotides. Three isozymes of adenylate kinase have been identified in vertebrates, adenylate isozyme 1 (AK1), 2 (AK2) and 3 (AK3). AK1 is found in the cytosol of skeletal muscle, brain and erythrocytes, whereas AK2 and AK3 are found in the mitochondria of other tissues including liver and heart. AK1 was identified because of its association with a rare genetic disorder causing nonspherocytic hemolytic anemia where a mutation in the AK1 gene was found to reduce the catalytic activity of the enzyme. [provided by RefSeq, Jul 2008]

OMIM entry for AK1     Wikipedia entry for AK1

Gene Sequence

Gene Sequence

Nucleotide sequence of AK1:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MEEKLKKTKI IFVVGGPGSG KGTQCEKIVQ KYGYTHLSTG
41DLLRSEVSSG SARGKKLSEI MEKGQLVPLE TVLDMLRDAM
81 VAKVNTSKG FLIDGYPREV QQGEEFERRI GQPTLLLYVD
121AGPETMTQRL LKRGETSGRV DDNEETIKKR LETYYKATEP
161V IAFYEKRG IVRKVNAEGS VDSVFSQVCT HLDALK
Structure predicted by AlphaFold DB(UniProt: P00568). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

Gene Variants

Gene Variants

SNP variants of AK1:           Showing partial SNPs
rs4226       rs743537       rs743538       rs743539       rs743540       rs762490       rs913984       rs913985       rs913986       rs913987       rs913988       rs968463       rs1005362       rs1009935       rs1556246       rs2010640       rs2026822      

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
CTGGTTCCACTGGAGACAG
59
CATCAATCAGGAAGCCTTTGG
59
TCTTTGTGGTGGGAGACAG
59
TCAATCAGGAAGCCTTTGGA
59
TTTGTGGTGGGAGACAGTG
59
ATCAATCAGGAAGCCTTTGGA
59
CTGGTTCCACTGGAGACAG
59
ATCAATCAGGAAGCCTTTGGA
59
CTGGTTCCACTGGAGACAG
59
TCAATCAGGAAGCCTTTGGA
59
TTTGTGGTGGGAGACAGTG
59
TCAATCAGGAAGCCTTTGGA
59

Gene Ontology

Subcellular localization of AK1 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for AK1:

GO ID
Protein
Source DB
GO:0005524
H0Y4J6 (UniProtKB)
IEA
GO:0006139
H0Y4J6 (UniProtKB)
IEA
GO:0016310
H0Y4J6 (UniProtKB)
IEA
GO:0019205
H0Y4J6 (UniProtKB)
IEA
GO:0005524
H0YID2 (UniProtKB)
IEA
GO:0006139
H0YID2 (UniProtKB)
IEA
GO:0016310
H0YID2 (UniProtKB)
IEA
GO:0019205
H0YID2 (UniProtKB)
IEA
GO:0001520
P00568 (UniProtKB)
IEA
GO:0004017
P00568 (UniProtKB)
EXP
GO:0004017
P00568 (UniProtKB)
EXP
GO:0004550
P00568 (UniProtKB)
IDA
GO:0005524
P00568 (UniProtKB)
IEA
GO:0005737
P00568 (UniProtKB)
IDA
GO:0005829
P00568 (UniProtKB)
TAS
GO:0005829
P00568 (UniProtKB)
TAS
GO:0005886
P00568 (UniProtKB)
IEA
GO:0006165
P00568 (UniProtKB)
IDA
GO:0006172
P00568 (UniProtKB)
IEA
GO:0007050
P00568 (UniProtKB)
IEA
GO:0009142
P00568 (UniProtKB)
IDA
GO:0015949
P00568 (UniProtKB)
TAS
GO:0046033
P00568 (UniProtKB)
IEA
GO:0046034
P00568 (UniProtKB)
IEA
GO:0070062
P00568 (UniProtKB)
IDA
GO:0070062
P00568 (UniProtKB)
IDA
GO:0004017
Q5T9B7 (UniProtKB)
IEA
GO:0004550
Q5T9B7 (UniProtKB)
IEA
GO:0005524
Q5T9B7 (UniProtKB)
IEA
GO:0005737
Q5T9B7 (UniProtKB)
IDA
GO:0006165
Q5T9B7 (UniProtKB)
IEA
GO:0006172
Q5T9B7 (UniProtKB)
IEA
GO:0009142
Q5T9B7 (UniProtKB)
IEA
GO:0046033
Q5T9B7 (UniProtKB)
IEA
GO:0046034
Q5T9B7 (UniProtKB)
IEA

Related microRNA

Related microRNA

microRNAs potentially regulating AK1:     

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
Reactome
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Adenylate Kinase Deficiency, Hemolytic Anemia Due To 0.48 3 8 CLINVAR_CTD_human_ORPHANET_UNIPROT
Myocardial Ischemia 0.12 1 0 CTD_human
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse 0.12 1 0 CTD_human
Diabetes Mellitus, Non-Insulin-Dependent 0.08 1 0 RGD
Infarction, Middle Cerebral Artery 0.08 1 0 RGD
Sarcopenia 0.08 1 0 RGD
Chronic hemolytic anemia 0.004734064 2 0 GAD
Schizophrenia 0.00272435 1 0 LHGDN
Fetal Growth Retardation 0.002367032 1 0 GAD
Deficiency of adenylate kinase 0.000814326 3 0 BeFree

Related Publications

Related Publications

Investigation of the effects and underlying mechanisms of adenylate kinase 1 on inosine monophosphate deposition in Beijing-You chickens.
Hou J, Zhang Y, Zhu L, Qi X, Wang X, Lin Z, Xiao L, Long C, Dou J, Xu Y, Sheng X Poult Sci IF: 4.5 2026-06-00
Actinic keratosis staging in multimodal image data.
Slian A, Korecka K, Polańska A, Czajkowska J Comput Methods Programs Biomed IF: 6.4 2026-07-00
DNA methylation reprogramming of gene regulatory elements is associated with lung metastasis in triple-negative breast cancer.
Bedoya-López AF, Íñiguez-Muñoz S, Orozco JIJ, Ensenyat-Méndez M, Valdez BJ, Boiko AD, Morote-Llabrés M, Xie HB, DiNome ML, Llinàs-Arias P, Marzese DM Commun Biol 2026-07-21
Targeting human adenylate kinase 1 (hAK1) with phenylcyanomethylenequinone oximes: a novel scaffold of non-competitive inhibitors - synthesis, kinetic studies, SAR and QSAR analysis.
Kozakiewicz-Piekarz A, Demchuk OM, Grzegórska M, Mielcarz M, Kurowska-Okoń A, Herda K, Sadczuk M, Suneel L, Szczepański P, Ciarkowska A, Wujak M Eur J Med Chem IF: 6.7 2026-02-05
Hydrophobic interactions determine the optimum temperature of a housekeeping enzyme.
Yamamoto T, Shiraishi A, Sakai T, Wada A, Satake H J Biol Chem 2026-03-00
Proteomic profiling of valproic acid-treated zebrafish embryos highlights dysregulation in energy and purine metabolism, and microtubule dynamics: Implications for autism spectrum disorder.
Sürmen S, Sürmen MG, Beler M, Ünal İ, Cansız D, Emekli-Alturfan E Biochim Biophys Acta Proteins Proteom IF: 2.2 2026-07-01
Corneal biomechanics with CORVIS-ST in post-keratoplasty corneas.
Ghosh T, Vanathi M, Gupta N, Tandon R, Khan M Indian J Ophthalmol IF: 2.2 2026-05-01
Novel statin derivatives as non-competitive inhibitors of human adenylate kinase 1: synthesis, enzyme inhibition, molecular docking, and biological studies.
Kozakiewicz-Piekarz A, Grzegórska M, Mielcarz M, Budny M, Karpiel M, Kaczmarek-Kędziera A, Gadzała-Kopciuch R, Kalinowska-Tłuścik J, Wujak M Biochimie IF: 3.4 2026-08-00
Purification and Identification of Antimicrobial Peptides Produced by Thermophilic Bacteria Isolated from Hot Springs.
Abdulsalam L, Ganiyu SA, Khalil AB Probiotics Antimicrob Proteins IF: 5.3 2026-04-00

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