The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010] See more...

Aliases for AK3 Gene

Aliases for AK3 Gene

  • Adenylate Kinase 3 2 3 4 5
  • GTP:AMP Phosphotransferase AK3, Mitochondrial 3 4
  • Adenylate Kinase 3 Alpha-Like 1 3 4
  • EC 2.7.4.10 4 51
  • AKL3L1 2 3
  • AK3L1 3 4
  • AKL3L 3 4
  • AK6 3 4
  • Adenylate Kinase 6, Adenylate Kinase 3 Like 1 3
  • GTP:AMP Phosphotransferase, Mitochondrial 3
  • Adenylate Kinase 3 Like 1 2
  • Adenylate Kinase 6 2
  • EC 2.7.4 51
  • AK 3 4
  • FIX 3
  • AK3 5

External Ids for AK3 Gene

Previous HGNC Symbols for AK3 Gene

  • AK6
  • AK3L1

Previous GeneCards Identifiers for AK3 Gene

  • GC01P065564
  • GC01P064533
  • GC01P064970
  • GC01P064983
  • GC01P065326

Summaries for AK3 Gene

Entrez Gene Summary for AK3 Gene

  • The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

GeneCards Summary for AK3 Gene

AK3 (Adenylate Kinase 3) is a Protein Coding gene. Diseases associated with AK3 include Reticular Dysgenesis and Amyloidosis, Familial Visceral. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Metabolism of nucleotides. Gene Ontology (GO) annotations related to this gene include GTP binding and phosphotransferase activity, phosphate group as acceptor. An important paralog of this gene is AK4.

UniProtKB/Swiss-Prot Summary for AK3 Gene

  • Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Has GTP:AMP phosphotransferase and ITP:AMP phosphotransferase activities.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AK3 Gene

Genomics for AK3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AK3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J004738 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 631.8 +0.6 619 5.1 GATAD2A HNRNPL PRDM10 IKZF1 CTCF ZNF692 POLR2A BACH1 LARP7 PRDM1 AK3 ENSG00000287759 CDC37L1 RIC1 JAK2 PLPP6 MTND5P14
GH09J004661 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.4 +77.8 77842 6 CEBPG HNRNPL CREB1 GATAD2A CTCF ATF7 TEAD4 PRDM10 ZNF629 REST SPATA6L PLPP6 AK3 CDC37L1-DT lnc-SPATA6L-2-001 lnc-SPATA6L-2-002
GH09J004700 Enhancer 1.1 Ensembl ENCODE 11.9 +42.0 42042 0.8 GATAD2A TFE3 NFKBIZ RCOR2 PKNOX1 RXRB IRF2 SP1 DPF2 GABPA SPATA6L AK3 AB372793 RF00017-7407 CDC37L1
GH09J004713 Enhancer 0.7 Ensembl ENCODE 17.7 +27.7 27692 0.9 MAFF ZFHX2 MAFK ZNF18 PAX8 MXI1 KDM1A EGR2 ZEB2 AK3 CDC37L1 AB372793 piR-30853-076
GH09J004686 Enhancer 0.6 Ensembl 11.8 +55.8 55781 0.5 JUND PRDM1 MTA1 IKZF2 DPF2 HMBOX1 FOS FOSL1 JUNB BATF piR-48820-096 AK3 PLPP6 CDC37L1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AK3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AK3

Top Transcription factor binding sites by QIAGEN in the AK3 gene promoter:
  • AML1a
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • CREB
  • Evi-1
  • Pax-2
  • Pax-2a
  • Pax-4a

Genomic Locations for AK3 Gene

Genomic Locations for AK3 Gene
chr9:4,709,556-4,742,043
(GRCh38/hg38)
Size:
32,488 bases
Orientation:
Minus strand
chr9:4,709,556-4,742,043
(GRCh37/hg19)
Size:
32,488 bases
Orientation:
Minus strand

Genomic View for AK3 Gene

Genes around AK3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AK3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AK3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AK3 Gene

Proteins for AK3 Gene

  • Protein details for AK3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UIJ7-KAD3_HUMAN
    Recommended name:
    GTP:AMP phosphotransferase AK3, mitochondrial
    Protein Accession:
    Q9UIJ7
    Secondary Accessions:
    • B4DP58
    • D3DRI1
    • E7ET30
    • Q5VYW6
    • Q9H576
    • Q9HC01
    • Q9NPB4

    Protein attributes for AK3 Gene

    Size:
    227 amino acids
    Molecular mass:
    25565 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for AK3 Gene

    Alternative splice isoforms for AK3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AK3 Gene

Selected DME Specific Peptides for AK3 Gene

Q9UIJ7:
  • SGRVYNIEFNPPKT
  • DDKPETV
  • FSGTETN
  • YQIDTVINLNVPFEVIK
  • SSGDLLR
  • WLLDGFPR
  • LDGFPRT
  • TGEPLIQR
  • GAPGSGKGT
  • QREDDKP

Post-translational modifications for AK3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for AK3 Gene

Gene Families for AK3 Gene

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

Suggested Antigen Peptide Sequences for AK3 Gene

GenScript: Design optimal peptide antigens:
  • Adenylate kinase 3 alpha-like 1 (KAD3_HUMAN)
  • cDNA FLJ40886 fis, clone UTERU2000663, highly similar to GTP:AMP phosphotransferase mitochondrial (EC 2.7.4.10) (Q9HC01_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UIJ7

UniProtKB/Swiss-Prot:

KAD3_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 binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to prevent GTP 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 binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to prevent GTP hydrolysis.
Family:
  • Belongs to the adenylate kinase family. AK3 subfamily.
genes like me logo Genes that share domains with AK3: view

Function for AK3 Gene

Molecular function for AK3 Gene

UniProtKB/Swiss-Prot Function:
Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Has GTP:AMP phosphotransferase and ITP:AMP phosphotransferase activities.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a ribonucleoside 5'-triphosphate + AMP = a ribonucleoside 5'-diphosphate + ADP; Xref=Rhea:RHEA:13749, ChEBI:CHEBI:57930, ChEBI:CHEBI:61557, ChEBI:CHEBI:456215, ChEBI:CHEBI:456216; EC=2.7.4.10; Evidence={ECO:0000255|HAMAP-Rule:MF_03169, ECO:0000269|PubMed:11485571};.
GENATLAS Biochemistry:
adenylate kinase 3,mitochondrial matrix adenine nucleotide catabolic pathway and guanine nucleotide pools homeostasis

Enzyme Numbers (IUBMB) for AK3 Gene

Phenotypes From GWAS Catalog for AK3 Gene

Gene Ontology (GO) - Molecular Function for AK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004017 NOT adenylate kinase activity IEA,IDA 11485571
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with AK3: view
genes like me logo Genes that share phenotypes with AK3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for AK3

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AK3

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AK3 Gene

Localization for AK3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AK3 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 AK3 gene
Compartment Confidence
mitochondrion 4
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion ISS --
GO:0005759 mitochondrial matrix ISS,TAS --
genes like me logo Genes that share ontologies with AK3: view

Pathways & Interactions for AK3 Gene

genes like me logo Genes that share pathways with AK3: view

Pathways by source for AK3 Gene

1 KEGG pathway for AK3 Gene

Gene Ontology (GO) - Biological Process for AK3 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:0006172 ADP biosynthetic process IEA --
GO:0007596 blood coagulation TAS --
GO:0009142 nucleoside triphosphate biosynthetic process IBA 21873635
genes like me logo Genes that share ontologies with AK3: view

No data available for SIGNOR curated interactions for AK3 Gene

Drugs & Compounds for AK3 Gene

(3) Drugs for AK3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra 0
Uridine 5'-diphosphate Experimental Pharma 0
Uridine triphosphate Experimental, Investigational Pharma 0

(3) Additional Compounds for AK3 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
NTP
genes like me logo Genes that share compounds with AK3: view

Transcripts for AK3 Gene

mRNA/cDNA for AK3 Gene

6 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
4 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 AK3

Alternative Splicing Database (ASD) splice patterns (SP) for AK3 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1:
SP2: - - - - - -
SP3: - - - - -
SP4: - - -
SP5: - - - -
SP6: - - -
SP7:

Relevant External Links for AK3 Gene

GeneLoc Exon Structure for
AK3

Expression for AK3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AK3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AK3 Gene

This gene is overexpressed in Liver, secretome (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AK3 Gene



Protein tissue co-expression partners for AK3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AK3

SOURCE GeneReport for Unigene cluster for AK3 Gene:

Hs.732022

mRNA Expression by UniProt/SwissProt for AK3 Gene:

Q9UIJ7-KAD3_HUMAN
Tissue specificity: Highly expressed in heart, skeletal muscle and liver, moderately expressed in pancreas and kidney, and weakly expressed in placenta, brain and lung.

Evidence on tissue expression from TISSUES for AK3 Gene

  • Liver(4.5)
  • Nervous system(4.1)
  • Heart(3.1)
  • Kidney(3)
  • Muscle(2.6)
  • Skin(2.5)
  • Blood(2.3)
genes like me logo Genes that share expression patterns with AK3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for AK3 Gene

Orthologs for AK3 Gene

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

Orthologs for AK3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AK3 30 31
  • 99.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC480491 30
  • 91.19 (n)
AK3 31
  • 79 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia AK3 30 31
  • 89.87 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ak3 30 17 31
  • 88.84 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ak3 30
  • 87.81 (n)
Oppossum
(Monodelphis domestica)
Mammalia AK3 31
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AK3 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AK3 30 31
  • 74.67 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AK3 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.15233 30
Zebrafish
(Danio rerio)
Actinopterygii ak3 30 31
  • 65.27 (n)
OneToOne
wufc20h08 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009660 30
  • 56.7 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Adk3 30 31 32
  • 55.61 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea CELE_ZK673.2 30
  • 47.26 (n)
ZK673.2 31 32
  • 33 (a)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C17754g 30
  • 51.27 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADK2 30 31 33
  • 49.16 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR115C 30
  • 47.51 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU03216 30
  • 49.42 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8262 31
  • 49 (a)
OneToMany
Species where no ortholog for AK3 was found in the sources mined by GeneCards:
  • 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)
  • 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)
  • 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 AK3 Gene

ENSEMBL:
Gene Tree for AK3 (if available)
TreeFam:
Gene Tree for AK3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AK3: view image

Paralogs for AK3 Gene

Paralogs for AK3 Gene

(2) SIMAP similar genes for AK3 Gene using alignment to 1 proteins:

  • KAD3_HUMAN
genes like me logo Genes that share paralogs with AK3: view

Variants for AK3 Gene

Additional dbSNP identifiers (rs#s) for AK3 Gene

Structural Variations from Database of Genomic Variants (DGV) for AK3 Gene

Variant ID Type Subtype PubMed ID
esv22952 CNV gain 19812545
esv2606673 CNV insertion 19546169
esv2669659 CNV deletion 23128226
esv2678066 CNV deletion 23128226
esv3403131 CNV duplication 20981092
esv3619357 CNV loss 21293372
esv3619358 CNV loss 21293372
nsv1015376 CNV gain 25217958
nsv1076134 CNV deletion 25765185
nsv1078999 CNV insertion 25765185
nsv1125962 CNV tandem duplication 24896259
nsv1140215 CNV insertion 24896259
nsv1140950 CNV deletion 24896259
nsv466096 CNV loss 19166990
nsv613173 CNV loss 21841781
nsv824823 CNV loss 20364138
nsv972641 CNV duplication 23825009

Variation tolerance for AK3 Gene

Residual Variation Intolerance Score: 29.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.15; 39.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AK3 Gene

Human Gene Mutation Database (HGMD)
AK3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AK3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AK3 Gene

Disorders for AK3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for AK3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
reticular dysgenesis
  • rd
amyloidosis, familial visceral
  • amyloidosis viii
- elite association - COSMIC cancer census association via MalaCards
Search AK3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AK3

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 AK3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AK3 Gene

Publications for AK3 Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  2. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. (PMID: 19820697) Soranzo N … Gieger C (Nature genetics 2009) 3 41
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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 AK3 Gene

Sources for AK3 Gene