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Aliases for AK3 Gene

Aliases for AK3 Gene

  • Adenylate Kinase 3 2 3 4 5
  • Adenylate Kinase 3 Alpha-Like 1 3 4
  • EC 2.7.4.10 4 61
  • AK3L1 3 4
  • AKL3L 3 4
  • AK6 3 4
  • GTP:AMP Phosphotransferase AK3, Mitochondrial 3
  • 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 61
  • AKL3L1 3
  • AK 3 4
  • FIX 3

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. Among its related pathways are Factors involved in megakaryocyte development and platelet production and Purine metabolism (KEGG). 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 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 , fRNAdb sequence ontologies and piRNA Summary for AK3 Gene

Genomics for AK3 Gene

Regulatory Elements for AK3 Gene

Enhancers for AK3 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
GH09G004738 1.6 Ensembl ENCODE dbSUPER 31.8 +0.6 620 5.1 HDGF PKNOX1 FOXA2 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 AK3 RIC1 CDC37L1 JAK2 PLPP6 MTND5P14 GC09P004695
GH09G004700 1 ENCODE 11.9 +41.8 41848 0.2 FOXA2 PKNOX1 MLX ARID4B DMAP1 ZNF48 YY1 SP5 MXD4 MIER2 AK3 GC09P004695
GH09G004661 1.1 ENCODE 10.4 +77.9 77858 5.8 HDGF PKNOX1 FOXA2 MLX WRNIP1 ARID4B SIN3A DMAP1 FEZF1 YY1 SPATA6L RIC1 AK3 PLPP6 CDC37L1-AS1
GH09G004713 0.6 ENCODE 12.7 +28.1 28068 0.2 MXI1 ZFHX2 ZEB2 PAX8 ZNF18 EGR2 AK3 GC09P004695
GH09G004715 0.3 FANTOM5 17.7 +26.7 26730 0.2 AK3 CDC37L1 PLPP6 GC09P004695
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AK3 on UCSC Golden Path with GeneCards custom track

Promoters for AK3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000232773 1243 2801 HDGF FOXA2 MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1

Genomic Location for AK3 Gene

Chromosome:
9
Start:
4,709,556 bp from pter
End:
4,742,043 bp from pter
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

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

GENATLAS Biochemistry:
adenylate kinase 3,mitochondrial matrix adenine nucleotide catabolic pathway and guanine nucleotide pools homeostasis
UniProtKB/Swiss-Prot CatalyticActivity:
NTP + AMP = NDP + ADP.
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.

Enzyme Numbers (IUBMB) for AK3 Gene

Gene Ontology (GO) - Molecular Function for AK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004017 NOT adenylate kinase activity IDA 11485571
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
GO:0005525 GTP binding IEA --
GO:0016301 kinase activity 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

miRNA for AK3 Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AK3
  • Applied Biological Materials Clones 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 5
cytosol 2

Gene Ontology (GO) - Cellular Components for AK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,ISS --
GO:0005759 mitochondrial matrix 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:0007596 blood coagulation TAS --
GO:0016310 phosphorylation IEA --
GO:0046033 AMP metabolic process IDA 11485571
GO:0046039 GTP metabolic process IDA 11485571
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 Nutra 0
Uridine triphosphate Experimental Pharma 0
Uridine-5'-Diphosphate Experimental Pharma 0

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

Transcripts for AK3 Gene

Unigene Clusters for AK3 Gene

Adenylate kinase 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AK3
  • Applied Biological Materials Clones 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
ECgene alternative splicing isoforms for
AK3

Expression for AK3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for AK3 Gene



Protein tissue co-expression partners for AK3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AK3 Gene:

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(3.8)
  • Kidney(2.4)
  • Heart(2.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with AK3: view

Primer Products

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 34 35
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia LOC480491 34
  • 91.19 (n)
AK3 35
  • 79 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AK3 34 35
  • 89.87 (n)
mouse
(Mus musculus)
Mammalia Ak3 34 16 35
  • 88.84 (n)
rat
(Rattus norvegicus)
Mammalia Ak3 34
  • 87.81 (n)
oppossum
(Monodelphis domestica)
Mammalia AK3 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AK3 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves AK3 34 35
  • 74.67 (n)
lizard
(Anolis carolinensis)
Reptilia AK3 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15233 34
zebrafish
(Danio rerio)
Actinopterygii ak3 34 35
  • 65.27 (n)
wufc20h08 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009660 34
  • 56.7 (n)
fruit fly
(Drosophila melanogaster)
Insecta Adk3 36 34 35
  • 55.61 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_ZK673.2 34
  • 47.26 (n)
ZK673.2 36 35
  • 31 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C17754g 34
  • 51.27 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADK2 34 35 37
  • 49.16 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR115C 34
  • 47.51 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03216 34
  • 49.42 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8262 35
  • 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 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)

Paralogs for AK3 Gene

Paralogs for AK3 Gene

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

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

Variants for AK3 Gene

Sequence variations from dbSNP and Humsavar for AK3 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000030922 -- 4,740,224(+) AAACA(A/G)CCCTC intron-variant
rs1000096916 -- 4,734,410(+) ACTCT(C/G)TGAGC intron-variant
rs1000190477 -- 4,741,966(+) AGAGG(A/G)CCTAC intron-variant, upstream-variant-2KB
rs1000221215 -- 4,712,206(+) TAATT(-/AC)ATTTT utr-variant-3-prime
rs1000223716 -- 4,730,321(+) TAATT(G/T)TATGG intron-variant

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)

Relevant External Links for AK3 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AK3 Gene

Disorders for AK3 Gene

Relevant External Links for AK3

Genetic Association Database (GAD)
AK3
Human Genome Epidemiology (HuGE) Navigator
AK3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AK3

No disorders were found for AK3 Gene.

No data available for MalaCards , 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 S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  2. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. (PMID: 19820697) Soranzo N. … Gieger C. (Nat. Genet. 2009) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for AK3 Gene

  • Addgene plasmids for AK3

Sources for AK3 Gene

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