Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AK4 Gene

Aliases for AK4 Gene

  • Adenylate Kinase 4 2 3 5
  • Adenylate Kinase 3-Like 1 2 3
  • AK3L1 3 4
  • AK 4 3 4
  • AK3 3 4
  • GTP:AMP Phosphotransferase AK4, Mitochondrial 3
  • Adenylate Kinase Isoenzyme 4, Mitochondrial 3
  • Nucleoside-Triphosphate-Adenylate Kinase 3
  • Adenylate Kinase 4, Mitochondrial 3
  • Mitochondrial Adenylate Kinase-3 3
  • GTP:AMP Phosphotransferase AK4 4
  • ATP-AMP Transphosphorylase 3
  • Adenylate Kinase 3-Like 4
  • Adenylate Kinase 3 2
  • EC 2.7.4.10 4
  • EC 2.7.4.3 61
  • EC 2.7.4.6 4
  • EC 2.7.4 61
  • AK3L2 3

External Ids for AK4 Gene

Previous HGNC Symbols for AK4 Gene

  • AK3
  • AK3L1

Previous GeneCards Identifiers for AK4 Gene

  • GC01P065614

Summaries for AK4 Gene

Entrez Gene Summary for AK4 Gene

  • This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq, Jul 2008]

GeneCards Summary for AK4 Gene

AK4 (Adenylate Kinase 4) is a Protein Coding gene. Among its related pathways are Tenofovir/Adefovir Pathway, Pharmacokinetics and Thiamine metabolism. GO annotations related to this gene include GTP binding and adenylate kinase activity. An important paralog of this gene is AK3.

UniProtKB/Swiss-Prot for AK4 Gene

  • Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Efficiently phosphorylates AMP and dAMP using ATP as phosphate donor, but phosphorylates only AMP when using GTP as phosphate donor. Also displays broad nucleoside diphosphate kinase activity.

Gene Wiki entry for AK4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AK4 Gene

Genomics for AK4 Gene

Regulatory Elements for AK4 Gene

Enhancers for AK4 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
GH01G065174 1.1 Ensembl ENCODE 41.2 +28.9 28902 4.1 FOXA2 ARID4B FEZF1 RAD21 GATA2 CBX5 ZSCAN5C SCRT2 FOS RELB AK4 GC01P065168 GC01M065188
GH01G065169 1 Ensembl ENCODE 36.3 +23.0 23044 1.2 CTCF PKNOX1 TAF1 ZNF384 CEBPG RAD21 CHAMP1 YY1 CTBP1 GATA3 AK4 GC01P065168 GC01M065188
GH01G065195 0.9 Ensembl ENCODE 36.7 +48.4 48385 1.8 BHLHE40 JUN JUND ZNF316 ATF3 ZNF366 EGR1 ZNF512 SCRT2 FOS AK4 DNAJC6 JAK1 GC01M065188 GC01M065201
GH01G065064 1.7 FANTOM5 ENCODE dbSUPER 17.4 -80.3 -80298 6.0 HDGF FOXA2 ARNT AGO1 SIN3A DMAP1 ZNF2 YY1 ZNF766 KLF13 AK4 JAK1 LEPROT LEPR ENSG00000231485 MIR101-1 GC01M065059
GH01G065147 1.1 ENCODE 24.9 +1.7 1706 4.3 HDGF PKNOX1 MLX ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 AK4 DNAJC6 GC01M065148 RPS29P7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AK4 on UCSC Golden Path with GeneCards custom track

Promoters for AK4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000007937 951 2601 HDGF MLX ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF263

Genomic Location for AK4 Gene

Chromosome:
1
Start:
65,147,549 bp from pter
End:
65,232,145 bp from pter
Size:
84,597 bases
Orientation:
Plus strand

Genomic View for AK4 Gene

Genes around AK4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AK4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AK4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AK4 Gene

Proteins for AK4 Gene

  • Protein details for AK4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P27144-KAD4_HUMAN
    Recommended name:
    Adenylate kinase 4, mitochondrial
    Protein Accession:
    P27144
    Secondary Accessions:
    • B2R927
    • D3DQ62
    • Q6IBH4
    • Q6NXQ5
    • Q8IUU9

    Protein attributes for AK4 Gene

    Size:
    223 amino acids
    Molecular mass:
    25268 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for AK4 Gene

neXtProt entry for AK4 Gene

Selected DME Specific Peptides for AK4 Gene

P27144:
  • FSGTETN
  • WLLDGFPR
  • DDVTGEPL
  • LDGFPRT
  • RIAQNFGLQHLSSGH
  • SGRVYNLDFNPP
  • TGEPLVQQEDDKPEA
  • AKPVIELYKSRGVLHQFSGTETN

Post-translational modifications for AK4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for AK4 Gene

Gene Families for AK4 Gene

Suggested Antigen Peptide Sequences for AK4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P27144

UniProtKB/Swiss-Prot:

KAD4_HUMAN :
  • 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 GTP/ATP binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to prevent GTP/ATP hydrolysis.
  • Belongs to the adenylate kinase family. AK3 subfamily.
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 GTP/ATP binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to prevent GTP/ATP hydrolysis.
Family:
  • Belongs to the adenylate kinase family. AK3 subfamily.
genes like me logo Genes that share domains with AK4: view

Function for AK4 Gene

Molecular function for AK4 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=5.3 uM for AMP with ATP as phosphate donor {ECO:0000269 PubMed:19766732}; KM=1.4 uM for AMP with GTP as phosphate donor {ECO:0000269 PubMed:19766732}; KM=507 uM for dAMP with ATP as phosphate donor {ECO:0000269 PubMed:19766732}; Vmax=90 pmol/min/ug enzyme with AMP as substrate and ATP as phosphate donor {ECO:0000269 PubMed:19766732}; Vmax=80 pmol/min/ug enzyme with AMP as substrate and GTP as phosphate donor {ECO:0000269 PubMed:19766732}; Vmax=88 pmol/min/ug enzyme with dAMP as substrate and ATP as phosphate donor {ECO:0000269 PubMed:19766732};
UniProtKB/Swiss-Prot CatalyticActivity:
NTP + AMP = NDP + ADP.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + nucleoside diphosphate = ADP + nucleoside triphosphate.
UniProtKB/Swiss-Prot Function:
Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Efficiently phosphorylates AMP and dAMP using ATP as phosphate donor, but phosphorylates only AMP when using GTP as phosphate donor. Also displays broad nucleoside diphosphate kinase activity.

Enzyme Numbers (IUBMB) for AK4 Gene

Gene Ontology (GO) - Molecular Function for AK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004017 NOT adenylate kinase activity IDA 11485571
GO:0004550 nucleoside diphosphate kinase activity IDA,IEA 23416111
GO:0005524 ATP binding IEA --
GO:0005525 GTP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with AK4: view
genes like me logo Genes that share phenotypes with AK4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AK4
  • Applied Biological Materials Clones for AK4

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AK4 Gene

Localization for AK4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AK4 Gene

Mitochondrion matrix.

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 AK4 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for AK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 19766732
GO:0005759 mitochondrial matrix TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with AK4: view

Pathways & Interactions for AK4 Gene

genes like me logo Genes that share pathways with AK4: view

Gene Ontology (GO) - Biological Process for AK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0006139 nucleobase-containing compound metabolic process IEA --
GO:0006165 nucleoside diphosphate phosphorylation IDA 23416111
GO:0007420 brain development IEA --
GO:0009142 nucleoside triphosphate biosynthetic process IDA 23416111
genes like me logo Genes that share ontologies with AK4: view

No data available for SIGNOR curated interactions for AK4 Gene

Drugs & Compounds for AK4 Gene

(5) Drugs for AK4 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adefovir Dipivoxil Approved, Investigational Pharma Enzyme, substrate 134
Tenofovir Approved, Investigational Pharma Enzyme, substrate HIV reverse transcriptase inhibitor 759
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0

(4) Additional Compounds for AK4 Gene - From: HMDB and Novoseek

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
dADP
  • 2'-Deoxyadenosine-5'-diphosphate
  • dADP
  • Deoxyadenosine diphosphate
2793-06-8
Deoxyadenosine monophosphate
  • 2'-dAMP
  • 2'-Deoxy-5'-adenylate
  • 2'-Deoxy-5'-adenylic acid
  • 2'-Deoxy-Adenosine 5'-phosphorate
  • 2'-Deoxy-Adenosine 5'-phosphoric acid
653-63-4
genes like me logo Genes that share compounds with AK4: view

Transcripts for AK4 Gene

Unigene Clusters for AK4 Gene

Adenylate kinase 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AK4
  • Applied Biological Materials Clones for AK4

Alternative Splicing Database (ASD) splice patterns (SP) for AK4 Gene

No ASD Table

Relevant External Links for AK4 Gene

GeneLoc Exon Structure for
AK4
ECgene alternative splicing isoforms for
AK4

Expression for AK4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AK4 Gene

mRNA differential expression in normal tissues according to GTEx for AK4 Gene

This gene is overexpressed in Kidney - Cortex (x5.8).

Protein differential expression in normal tissues from HIPED for AK4 Gene

This gene is overexpressed in Kidney (17.1) and Heart (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AK4 Gene



Protein tissue co-expression partners for AK4 Gene

NURSA nuclear receptor signaling pathways regulating expression of AK4 Gene:

AK4

SOURCE GeneReport for Unigene cluster for AK4 Gene:

Hs.10862

mRNA Expression by UniProt/SwissProt for AK4 Gene:

P27144-KAD4_HUMAN
Tissue specificity: Highly expressed in kidney, moderately expressed in heart and liver and weakly expressed in brain.

Evidence on tissue expression from TISSUES for AK4 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Intestine(4.2)
  • Lung(4.1)
  • Kidney(4)
  • Heart(2.4)
  • Muscle(2.4)
genes like me logo Genes that share expression patterns with AK4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for AK4 Gene

Orthologs for AK4 Gene

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

Orthologs for AK4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AK4 34 35
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia AK4 34
  • 92.08 (n)
-- 35
  • 53 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia AK4 34 35
  • 89.24 (n)
mouse
(Mus musculus)
Mammalia Ak4 34 16 35
  • 87.74 (n)
rat
(Rattus norvegicus)
Mammalia Ak4 34
  • 85.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AK4 35
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AK4 35
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves AK4 34 35
  • 75.64 (n)
lizard
(Anolis carolinensis)
Reptilia AK4 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ak4 34
  • 71.92 (n)
zebrafish
(Danio rerio)
Actinopterygii ak4 34 35
  • 66.51 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4221 34
fruit fly
(Drosophila melanogaster)
Insecta Adk3 35
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZK673.2 35
  • 29 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADK2 35
  • 40 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8262 35
  • 45 (a)
OneToMany
Species where no ortholog for AK4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AK4 Gene

ENSEMBL:
Gene Tree for AK4 (if available)
TreeFam:
Gene Tree for AK4 (if available)

Paralogs for AK4 Gene

Paralogs for AK4 Gene

(2) SIMAP similar genes for AK4 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for AK4 Gene

genes like me logo Genes that share paralogs with AK4: view

Variants for AK4 Gene

Sequence variations from dbSNP and Humsavar for AK4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000015525 -- 65,223,174(+) AAATG(-/TTATTTT)TTATT intron-variant
rs1000057533 -- 65,209,729(+) ATCCA(A/T)CATTT intron-variant
rs1000072604 -- 65,167,254(+) TATAT(C/G)TGATT intron-variant
rs1000146782 -- 65,164,026(+) TTATC(A/C)CCAGG intron-variant
rs1000151248 -- 65,223,482(+) CTGCG(C/T)CCCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AK4 Gene

Variant ID Type Subtype PubMed ID
dgv173n100 CNV gain 25217958
esv2230166 CNV deletion 18987734
esv2446769 CNV deletion 19546169
esv2658072 CNV deletion 23128226
esv2676423 CNV deletion 23128226
esv3563237 CNV deletion 23714750
esv3577906 CNV loss 25503493
esv3586276 CNV loss 21293372
esv3586277 CNV loss 21293372
nsv1137767 CNV deletion 24896259
nsv1146559 CNV deletion 26484159
nsv522027 CNV loss 19592680
nsv945982 CNV duplication 23825009
nsv945983 CNV duplication 23825009
nsv945984 CNV duplication 23825009

Variation tolerance for AK4 Gene

Residual Variation Intolerance Score: 48.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.29; 81.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AK4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AK4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AK4 Gene

Disorders for AK4 Gene

Relevant External Links for AK4

Human Genome Epidemiology (HuGE) Navigator
AK4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AK4

No disorders were found for AK4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AK4 Gene

Publications for AK4 Gene

  1. Structure and expression of human mitochondrial adenylate kinase targeted to the mitochondrial matrix. (PMID: 11485571) Noma T. … Yoshinobu K. (Biochem. J. 2001) 2 3 4 22 64
  2. Characterization of human adenylate kinase 3 (AK3) cDNA and mapping of the AK3 pseudogene to an intron of the NF1 gene. (PMID: 1639383) Xu G. … White R. (Genomics 1992) 3 4 22 64
  3. The human adenylate kinase 9 is a nucleoside mono- and diphosphate kinase. (PMID: 23416111) Amiri M. … Solaroli N. (Int. J. Biochem. Cell Biol. 2013) 3 4 64
  4. Evidence of an intact N-terminal translocation sequence of human mitochondrial adenylate kinase 4. (PMID: 19766732) Panayiotou C. … Karlsson A. (Int. J. Biochem. Cell Biol. 2010) 3 4 64
  5. Crystal structure of human adenylate kinase 4 (L171P) suggests the role of hinge region in protein domain motion. (PMID: 19073142) Liu R. … Gong W. (Biochem. Biophys. Res. Commun. 2009) 3 4 64

Products for AK4 Gene

  • Addgene plasmids for AK4

Sources for AK4 Gene

Content
Loading form....