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Aliases for AK1 Gene

Aliases for AK1 Gene

  • Adenylate Kinase 1 2 3
  • Adenylate Monophosphate Kinase 3 4
  • ATP-AMP Transphosphorylase 1 3 4
  • ATP:AMP Phosphotransferase 3 4
  • EC 2.7.4.3 4 63
  • Myokinase 3 4
  • AK 1 3 4
  • Testis Secretory Sperm Binding Protein Li 58j 3
  • Adenylate Kinase Isoenzyme 1 3
  • EC 2.7.4.6 4
  • HTL-S-58j 3
  • EC 2.7.4 63

External Ids for AK1 Gene

Previous GeneCards Identifiers for AK1 Gene

  • GC09M121743
  • GC09M122275
  • GC09M124082
  • GC09M126004
  • GC09M127708
  • GC09M129668
  • GC09M130628
  • GC09M100246

Summaries for AK1 Gene

Entrez Gene Summary for AK1 Gene

  • 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]

GeneCards Summary for AK1 Gene

AK1 (Adenylate Kinase 1) is a Protein Coding gene. Diseases associated with AK1 include hemolytic anemia due to adenylate kinase deficiency and hemolytic anemia. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include nucleoside diphosphate kinase activity and adenylate kinase activity. An important paralog of this gene is CMPK1.

UniProtKB/Swiss-Prot for AK1 Gene

  • Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AK1 Gene

Genomics for AK1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for AK1 Gene

Start:
127,866,480 bp from pter
End:
127,877,743 bp from pter
Size:
11,264 bases
Orientation:
Minus strand

Genomic View for AK1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AK1 Gene

Proteins for AK1 Gene

  • Protein details for AK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00568-KAD1_HUMAN
    Recommended name:
    Adenylate kinase isoenzyme 1
    Protein Accession:
    P00568
    Secondary Accessions:
    • Q9BVK9
    • Q9UQC7

    Protein attributes for AK1 Gene

    Size:
    194 amino acids
    Molecular mass:
    21635 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for AK1 Gene

neXtProt entry for AK1 Gene

Proteomics data for AK1 Gene at MOPED

Post-translational modifications for AK1 Gene

  • Ubiquitination at Lys31
  • Modification sites at PhosphoSitePlus

Other Protein References for AK1 Gene

Domains for AK1 Gene

Gene Families for AK1 Gene

HGNC:
  • AK :Adenylate kinases

Protein Domains for AK1 Gene

Suggested Antigen Peptide Sequences for AK1 Gene

Graphical View of Domain Structure for InterPro Entry

P00568

UniProtKB/Swiss-Prot:

KAD1_HUMAN :
  • P00568
Domain:
  • Consists of three domains, a large central CORE domain and two small peripheral domains, NMPbind and LID, which undergo movements during catalysis. The LID domain closes over the site of phosphoryl transfer upon ATP binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to prevent ATP hydrolysis
Family:
  • Belongs to the adenylate kinase family. AK1 subfamily.
genes like me logo Genes that share domains with AK1: view

Function for AK1 Gene

Molecular function for AK1 Gene

GENATLAS Biochemistry: adenylate kinase 1,cytosolic,expressed in erythrocyte,skeletal muscle,brain, responsible of the phosphorylation of AMP in RBC and production of ADP,adenine nucleotide catabolic pathway and guanine nucleotide pools homeostasis
UniProtKB/Swiss-Prot CatalyticActivity: ATP + AMP = 2 ADP.
UniProtKB/Swiss-Prot CatalyticActivity: ATP + nucleoside diphosphate = ADP + nucleoside triphosphate.
UniProtKB/Swiss-Prot Function: Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism.

Enzyme Numbers (IUBMB) for AK1 Gene

Gene Ontology (GO) - Molecular Function for AK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004017 adenylate kinase activity IEA --
GO:0004550 nucleoside diphosphate kinase activity IDA 23416111
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity --
GO:0019205 nucleobase-containing compound kinase activity --
genes like me logo Genes that share ontologies with AK1: view
genes like me logo Genes that share phenotypes with AK1: view

Animal Models for AK1 Gene

MGI Knock Outs for AK1:

Animal Model Products

CRISPR Products

miRNA for AK1 Gene

miRTarBase miRNAs that target AK1

No data available for Transcription Factor Targeting and HOMER Transcription for AK1 Gene

Localization for AK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AK1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AK1 Gene COMPARTMENTS Subcellular localization image for AK1 gene
Compartment Confidence
cytosol 4
cytoskeleton 2
mitochondrion 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for AK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001520 outer dense fiber IEA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0036126 sperm flagellum IEA --
genes like me logo Genes that share ontologies with AK1: view

Pathways for AK1 Gene

genes like me logo Genes that share pathways with AK1: view

Gene Ontology (GO) - Biological Process for AK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process --
GO:0006165 nucleoside diphosphate phosphorylation IDA 23416111
GO:0006172 ADP biosynthetic process IEA --
GO:0007050 cell cycle arrest IEA --
GO:0009142 nucleoside triphosphate biosynthetic process IDA 23416111
genes like me logo Genes that share ontologies with AK1: view

Compounds for AK1 Gene

(5) HMDB Compounds for AK1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
dADP
  • 2'-deoxyadenosine-5'-diphosphate
2793-06-8
Deoxyadenosine monophosphate
  • 2'-Deoxy-5'-adenylate
653-63-4

(1) Drugbank Compounds for AK1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Bis(Adenosine)-5'-Pentaphosphate
target

(14) Novoseek inferred chemical compound relationships for AK1 Gene

Compound -log(P) Hits PubMed IDs
ddamp 90.8 1
adenylate 79.8 32
6-phosphogluconate 71 3
prpp 58.4 1
adp 51.3 5
genes like me logo Genes that share compounds with AK1: view

Transcripts for AK1 Gene

Unigene Clusters for AK1 Gene

Adenylate kinase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AK1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AK1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8
SP1: - -
SP2: - -
SP3: -
SP4: -

Relevant External Links for AK1 Gene

GeneLoc Exon Structure for
AK1
ECgene alternative splicing isoforms for
AK1

Expression for AK1 Gene

mRNA expression in normal human tissues for AK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AK1 Gene

This gene is overexpressed in Muscle - Skeletal (7.1) and Heart - Left Ventricle (5.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AK1 Gene

SOURCE GeneReport for Unigene cluster for AK1 Gene Hs.175473

genes like me logo Genes that share expressions with AK1: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for AK1 Gene

Orthologs for AK1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AK1 35
  • 99.48 (n)
  • 98.96 (a)
AK1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AK1 35
  • 91.41 (n)
  • 96.91 (a)
AK1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AK1 35
  • 92.88 (n)
  • 97.92 (a)
AK1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ak1 35
  • 85.59 (n)
  • 88.54 (a)
Ak1 16
Ak1 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AK1 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AK1 36
  • 53 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ak1 35
  • 85.91 (n)
  • 90.21 (a)
chicken
(Gallus gallus)
Aves AK1 35
  • 78.71 (n)
  • 84.29 (a)
AK1 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AK1 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ak1 35
  • 72.85 (n)
  • 80.93 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.96 35
zebrafish
(Danio rerio)
Actinopterygii ak1 35
  • 70.62 (n)
  • 73.71 (a)
ak1 36
  • 74 (a)
OneToOne
Dr.14283 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009317 35
  • 57.51 (n)
  • 50.55 (a)
fruit fly
(Drosophila melanogaster)
Insecta Adk1 35
  • 56.23 (n)
  • 50 (a)
Adk1 36
  • 41 (a)
OneToMany
Adk1 37
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea F38B2.4 35
  • 57.88 (n)
  • 59.89 (a)
F38B2.4 36
  • 52 (a)
OneToMany
F38B2.4 37
  • 59 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URA6 36
  • 40 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G25280 35
  • 48.66 (n)
  • 41.18 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3945 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4395 36
  • 57 (a)
OneToMany
Species with no ortholog for AK1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AK1 Gene

ENSEMBL:
Gene Tree for AK1 (if available)
TreeFam:
Gene Tree for AK1 (if available)

Paralogs for AK1 Gene

Paralogs for AK1 Gene

Selected SIMAP similar genes for AK1 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for AK1 Gene

genes like me logo Genes that share paralogs with AK1: view

Variants for AK1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for AK1 Gene

P00568-KAD1_HUMAN
This enzyme represents the most common of at least five alleles

Sequence variations from dbSNP and Humsavar for AK1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs4226 -- 127,867,954(-) TGATT(A/C)GAGGT utr-variant-3-prime
rs743537 -- 127,872,665(-) GTGAG(A/G)GGCAG intron-variant
rs743538 -- 127,872,489(-) TGCCC(C/G)CAACT intron-variant
rs743539 -- 127,871,625(+) GCCCC(G/T)CCTGG intron-variant
rs743540 -- 127,871,620(+) cAACT(C/G)CCCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AK1 Gene

Variant ID Type Subtype PubMed ID
nsv893859 CNV Loss 21882294
nsv893860 CNV Gain 21882294
nsv893865 CNV Loss 21882294
dgv8287n71 CNV Loss 21882294
nsv466575 CNV Loss 19166990
nsv893874 CNV Loss 21882294
dgv8290n71 CNV Loss 21882294
dgv8291n71 CNV Loss 21882294
esv28616 CNV Gain+Loss 19812545
dgv1377e199 CNV Deletion 23128226
esv2739054 CNV Deletion 23290073
dgv497n21 CNV Loss 19592680
dgv8293n71 CNV Loss 21882294

Relevant External Links for AK1 Gene

HapMap Linkage Disequilibrium report
AK1
Human Gene Mutation Database (HGMD)
AK1

Disorders for AK1 Gene

(1) OMIM Diseases for AK1 Gene (103000)

UniProtKB/Swiss-Prot

KAD1_HUMAN
  • Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]: A disease characterized by hemolytic anemia and undetectable erythrocyte adenylate kinase activity. {ECO:0000269 PubMed:12649162, ECO:0000269 PubMed:2542324, ECO:0000269 PubMed:9432020}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for AK1 Gene

(1) Novoseek inferred disease relationships for AK1 Gene

Disease -log(P) Hits PubMed IDs
tumors 0 1

Genatlas disease for AK1 Gene

Hemolytic anemia

Relevant External Links for AK1

Genetic Association Database (GAD)
AK1
Human Genome Epidemiology (HuGE) Navigator
AK1
genes like me logo Genes that share disorders with AK1: view

Publications for AK1 Gene

  1. wt p53 dependent expression of a membrane-associated isoform of adenylate kinase. (PMID: 10557075) Collavin L. … Schneider C. (Oncogene 1999) 3 23
  2. Cloning and expression of human adenylate kinase 2 isozymes: differential expression of adenylate kinase 1 and 2 in human muscle tissues. (PMID: 9504408) Lee Y. … Choe I.S. (J. Biochem. 1998) 3 23
  3. Human adenylate kinase deficiency associated with hemolytic anemia. A single base substitution affecting solubility and catalytic activity of the cytosolic adenylate kinase. (PMID: 2542324) Matsuura S. … Nakazawa A. (J. Biol. Chem. 1989) 3 4
  4. A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 --> Stop, CGA --> TGA) associated with chronic haemolytic anaemia. (PMID: 10233365) Bianchi P. … Zanella A. (Br. J. Haematol. 1999) 3 48
  5. Smoking and human reproduction: the effect of adenylate kinase genetic polymorphism. (PMID: 18850517) Gloria-Bottini F. … Bottini E. (Am J Perinatol 2009) 3 48

Products for AK1 Gene

  • Addgene plasmids for AK1

Sources for AK1 Gene

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