This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced tra... See more...

Aliases for AK5 Gene

Aliases for AK5 Gene

  • Adenylate Kinase 5 2 3 5
  • Adenylate Kinase Isoenzyme 5 3 4
  • ATP-AMP Transphosphorylase 5 3 4
  • AK 5 3 4
  • Adenylate Kinase 6 3
  • EC 2.7.4.3 4
  • EC 2.7.4.6 4
  • AK6 3
  • AK5 5

External Ids for AK5 Gene

Previous GeneCards Identifiers for AK5 Gene

  • GC01P078086
  • GC01P076692
  • GC01P077152
  • GC01P077170
  • GC01P077459
  • GC01P077747
  • GC01P075878

Summaries for AK5 Gene

Entrez Gene Summary for AK5 Gene

  • This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for AK5 Gene

AK5 (Adenylate Kinase 5) is a Protein Coding gene. Diseases associated with AK5 include Connective Tissue Benign Neoplasm and Limbic Encephalitis. Among its related pathways are ATP/ITP metabolism and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Gene Ontology (GO) annotations related to this gene include nucleoside diphosphate kinase activity and nucleoside kinase activity. An important paralog of this gene is AK8.

UniProtKB/Swiss-Prot Summary for AK5 Gene

  • Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Active on AMP and dAMP with ATP as a donor. When GTP is used as phosphate donor, the enzyme phosphorylates AMP, CMP, and to a small extent dCMP. Also displays broad nucleoside diphosphate kinase activity.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AK5 Gene

Genomics for AK5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AK5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AK5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AK5

Top Transcription factor binding sites by QIAGEN in the AK5 gene promoter:
  • AREB6
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • Pax-5

Genomic Locations for AK5 Gene

Genomic Locations for AK5 Gene
chr1:77,281,908-77,559,966
(GRCh38/hg38)
Size:
278,059 bases
Orientation:
Plus strand
chr1:77,747,662-78,025,654
(GRCh37/hg19)
Size:
277,993 bases
Orientation:
Plus strand

Genomic View for AK5 Gene

Genes around AK5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AK5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AK5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AK5 Gene

Proteins for AK5 Gene

  • Protein details for AK5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6K8-KAD5_HUMAN
    Recommended name:
    Adenylate kinase isoenzyme 5
    Protein Accession:
    Q9Y6K8
    Secondary Accessions:
    • Q5U622
    • Q6FH66
    • Q7Z4T5
    • Q86YS0
    • Q8N464
    • Q96EC9

    Protein attributes for AK5 Gene

    Size:
    562 amino acids
    Molecular mass:
    63333 Da
    Quaternary structure:
    • Monomer. Interacts with YWHAZ (PubMed:16959763).
    Miscellaneous:
    • [Isoform 2]: It is unsure whether Met-1 or Met-5 is the initiator.

    Three dimensional structures from OCA and Proteopedia for AK5 Gene

    Alternative splice isoforms for AK5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AK5 Gene

Post-translational modifications for AK5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AK5 Gene

Domains & Families for AK5 Gene

Gene Families for AK5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for AK5 Gene

InterPro:
Blocks:
  • Adenylate kinase
ProtoNet:

Suggested Antigen Peptide Sequences for AK5 Gene

GenScript: Design optimal peptide antigens:
  • ATP-AMP transphosphorylase 5 (KAD5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y6K8

UniProtKB/Swiss-Prot:

KAD5_HUMAN :
  • Belongs to the adenylate kinase family.
Family:
  • Belongs to the adenylate kinase family.
genes like me logo Genes that share domains with AK5: view

Function for AK5 Gene

Molecular function for AK5 Gene

UniProtKB/Swiss-Prot Function:
Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Active on AMP and dAMP with ATP as a donor. When GTP is used as phosphate donor, the enzyme phosphorylates AMP, CMP, and to a small extent dCMP. Also displays broad nucleoside diphosphate kinase activity.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=AMP + ATP = 2 ADP; Xref=Rhea:RHEA:12973, ChEBI:CHEBI:30616, ChEBI:CHEBI:456215, ChEBI:CHEBI:456216; EC=2.7.4.3; Evidence={ECO:0000269|PubMed:19647735};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 2'-deoxyribonucleoside 5'-diphosphate + ATP = a 2'-deoxyribonucleoside 5'-triphosphate + ADP; Xref=Rhea:RHEA:44640, ChEBI:CHEBI:30616, ChEBI:CHEBI:61560, ChEBI:CHEBI:73316, ChEBI:CHEBI:456216; EC=2.7.4.6; Evidence={ECO:0000269|PubMed:23416111};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a ribonucleoside 5'-diphosphate + ATP = a ribonucleoside 5'-triphosphate + ADP; Xref=Rhea:RHEA:18113, ChEBI:CHEBI:30616, ChEBI:CHEBI:57930, ChEBI:CHEBI:61557, ChEBI:CHEBI:456216; EC=2.7.4.6; Evidence={ECO:0000269|PubMed:23416111};.
GENATLAS Biochemistry:
adenylate kinase 5,located in the cytosol,expressed exclusively in brain

Enzyme Numbers (IUBMB) for AK5 Gene

Phenotypes From GWAS Catalog for AK5 Gene

Gene Ontology (GO) - Molecular Function for AK5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004017 adenylate kinase activity TAS,IEA --
GO:0004550 nucleoside diphosphate kinase activity IEA,IDA 23416111
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with AK5: view
genes like me logo Genes that share phenotypes with AK5: view

Animal Model Products

  • Taconic Biosciences Mouse Models for AK5

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AK5

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for AK5 Gene

Localization for AK5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AK5 Gene

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 AK5 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
plasma membrane 2
mitochondrion 2
nucleus 2
extracellular 1
endosome 1
peroxisome 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Centriolar satellite (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AK5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005829 cytosol TAS --
GO:0034451 centriolar satellite IDA --
genes like me logo Genes that share ontologies with AK5: view

Pathways & Interactions for AK5 Gene

genes like me logo Genes that share pathways with AK5: view

Pathways by source for AK5 Gene

2 GeneGo (Thomson Reuters) pathways for AK5 Gene
  • ATP/ITP metabolism
  • G-protein signaling G-Protein alpha-s signaling cascades
2 Qiagen pathways for AK5 Gene
  • AMPK Enzyme Complex Pathway
  • Cholera Infection

Gene Ontology (GO) - Biological Process for AK5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process IEA --
GO:0006163 purine nucleotide metabolic process IBA 21873635
GO:0006165 nucleoside diphosphate phosphorylation IDA 23416111
GO:0006172 ADP biosynthetic process TAS 10215863
GO:0006173 dADP biosynthetic process TAS 10215863
genes like me logo Genes that share ontologies with AK5: view

No data available for SIGNOR curated interactions for AK5 Gene

Drugs & Compounds for AK5 Gene

(3) Drugs for AK5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra 0
Guanosine triphosphate Experimental Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(4) Additional Compounds for AK5 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
dADP
  • 2'-Deoxyadenosine-5'-diphosphate
  • Deoxyadenosine diphosphate
2793-06-8
Deoxyadenosine monophosphate
  • 2'-dAMP
  • 2'-Deoxy-5'-adenosine monophosphate
  • 2'-Deoxy-AMP
  • 2'-Deoxyadenosine 5'-(dihydrogen phosphate)
  • 2'-Deoxyadenosine 5'-monophosphate
653-63-4
genes like me logo Genes that share compounds with AK5: view

Transcripts for AK5 Gene

mRNA/cDNA for AK5 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AK5

Alternative Splicing Database (ASD) splice patterns (SP) for AK5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b
SP1: - - -
SP2: - -
SP3: - - -
SP4:

Relevant External Links for AK5 Gene

GeneLoc Exon Structure for
AK5

Expression for AK5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AK5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AK5 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x8.3), Brain - Anterior cingulate cortex (BA24) (x7.5), Brain - Hippocampus (x5.9), Brain - Amygdala (x5.4), Brain - Cortex (x5.4), and Brain - Nucleus accumbens (basal ganglia) (x5.3).

Protein differential expression in normal tissues from HIPED for AK5 Gene

This gene is overexpressed in Brain (42.8) and Frontal cortex (14.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AK5 Gene



Protein tissue co-expression partners for AK5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AK5

SOURCE GeneReport for Unigene cluster for AK5 Gene:

Hs.559718

mRNA Expression by UniProt/SwissProt for AK5 Gene:

Q9Y6K8-KAD5_HUMAN
Tissue specificity: Brain specific.

Evidence on tissue expression from TISSUES for AK5 Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Eye(3.1)
  • Kidney(2.2)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with AK5: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AK5 Gene

Orthologs for AK5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AK5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AK5 30 31
  • 99.76 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AK5 30 31
  • 93.29 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AK5 30 31
  • 92.65 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ak5 30 17 31
  • 86.36 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC365985 30
  • 85.59 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia AK5 31
  • 58 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AK5 31
  • 44 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AK5 30 31
  • 75.94 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AK5 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ak5 30
  • 71.14 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100003595 30
  • 65.77 (n)
ak5 31
  • 64 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Adk1 31 32
  • 41 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea F38B2.4 31 32
  • 48 (a)
OneToMany
F13E6.2 30
  • 45.12 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URA6 31
  • 38 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4395 31
  • 38 (a)
OneToMany
Species where no ortholog for AK5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for AK5 Gene

ENSEMBL:
Gene Tree for AK5 (if available)
TreeFam:
Gene Tree for AK5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AK5: view image

Paralogs for AK5 Gene

Paralogs for AK5 Gene

(4) SIMAP similar genes for AK5 Gene using alignment to 4 proteins:

  • KAD5_HUMAN
  • E9PIS7_HUMAN
  • E9PQQ8_HUMAN
  • H0YEZ1_HUMAN
genes like me logo Genes that share paralogs with AK5: view

Variants for AK5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AK5 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1167206 Benign: not specified 77,297,857(+) A/. NO_SEQUENCE_ALTERATION
rs1532507 Benign: not specified 77,417,727(+) C/T INTRON_VARIANT
rs6485 Benign: not specified 77,558,660(+) C/CTAT INFRAME_INSERTION
rs6675743 Benign: not specified 77,558,599(+) T/C INTRON_VARIANT
rs2803140 - p.Arg465Gln

Additional dbSNP identifiers (rs#s) for AK5 Gene

Structural Variations from Database of Genomic Variants (DGV) for AK5 Gene

Variant ID Type Subtype PubMed ID
esv1179842 CNV deletion 17803354
esv1440178 CNV deletion 17803354
esv22538 CNV loss 19812545
esv2656843 CNV deletion 23128226
esv2657556 CNV deletion 23128226
esv2659731 CNV deletion 23128226
esv2670780 CNV deletion 23128226
esv2676174 CNV deletion 23128226
esv2750152 CNV deletion 23290073
esv2758945 CNV loss 17122850
esv2762157 CNV loss 21179565
esv2764210 CNV loss 21179565
esv3336566 CNV insertion 20981092
esv3564482 CNV deletion 23714750
esv3577974 CNV loss 25503493
esv3586520 CNV loss 21293372
esv3586521 CNV loss 21293372
esv3586522 CNV loss 21293372
esv3586524 CNV loss 21293372
esv3586526 CNV loss 21293372
esv3893745 CNV gain 25118596
esv9520 OTHER inversion 19470904
nsv1122369 CNV deletion 24896259
nsv1133132 CNV tandem duplication 24896259
nsv1522 CNV insertion 18451855
nsv1533 CNV deletion 18451855
nsv441697 CNV loss 18776908
nsv462095 CNV loss 19166990
nsv470719 CNV gain 18288195
nsv517088 CNV loss 19592680
nsv521371 CNV loss 19592680
nsv546591 CNV gain 21841781
nsv546592 CNV loss 21841781
nsv818234 CNV loss 17921354
nsv823254 CNV loss 20364138

Variation tolerance for AK5 Gene

Residual Variation Intolerance Score: 11.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.91; 35.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AK5 Gene

Human Gene Mutation Database (HGMD)
AK5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AK5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AK5 Gene

Disorders for AK5 Gene

MalaCards: The human disease database

(4) MalaCards diseases for AK5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
connective tissue benign neoplasm
  • neoplasm of soft tissue
limbic encephalitis
anterograde amnesia
  • amnesia, anterograde
chronic frontal sinusitis
- elite association - COSMIC cancer census association via MalaCards
Search AK5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AK5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with AK5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AK5 Gene

Publications for AK5 Gene

  1. Identification of two active functional domains of human adenylate kinase 5. (PMID: 19647735) Solaroli N … Karlsson A (FEBS letters 2009) 3 4 23
  2. Identification of a novel human adenylate kinase. cDNA cloning, expression analysis, chromosome localization and characterization of the recombinant protein. (PMID: 10215863) Van Rompay AR … Karlsson A (European journal of biochemistry 1999) 2 3 4
  3. The human adenylate kinase 9 is a nucleoside mono- and diphosphate kinase. (PMID: 23416111) Amiri M … Solaroli N (The international journal of biochemistry & cell biology 2013) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for AK5 Gene

Sources for AK5 Gene