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Aliases for AK9 Gene

Aliases for AK9 Gene

  • Adenylate Kinase 9 2 3 5
  • Adenylate Kinase Domain Containing 2 2 3
  • Adenylate Kinase Domain Containing 1 2 3
  • C6orf199 3 4
  • C6orf224 3 4
  • AK 9 3 4
  • AKD1 3 4
  • AKD2 3 4
  • Adenylate Kinase Domain-Containing Protein 1 4
  • Adenylate Kinase Domain-Containing Protein 2 4
  • Chromosome 6 Open Reading Frame 224 2
  • Chromosome 6 Open Reading Frame 199 2
  • EC 2.7.4.4 4
  • EC 2.7.4.6 4
  • DJ70A9.1 3

External Ids for AK9 Gene

Previous HGNC Symbols for AK9 Gene

  • C6orf224
  • AKD2
  • C6orf199
  • AKD1

Previous GeneCards Identifiers for AK9 Gene

  • GC06M109815

Summaries for AK9 Gene

Entrez Gene Summary for AK9 Gene

  • The protein encoded by this gene catalyzes the interconversion of nucleosides, possessing both nucleoside monophosphate and diphosphate kinase activities. The encoded protein uses these interconversions to maintain nucleoside homeostasis. [provided by RefSeq, Jul 2016]

GeneCards Summary for AK9 Gene

AK9 (Adenylate Kinase 9) is a Protein Coding gene. Among its related pathways are Purine metabolism (KEGG) and Purine metabolism (REACTOME). GO annotations related to this gene include nucleoside diphosphate kinase activity and nucleoside phosphate kinase activity.

UniProtKB/Swiss-Prot for AK9 Gene

  • Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Has both nucleoside monophosphate and diphosphate kinase activities. Catalyzes the phosphorylation of AMP, dAMP, CMP and dCMP with ATP as phosphate donor and of CMP with GTP as phosphate donor. Also catalyzes the production of ATP, CTP, GTP, UTP, dATP, dCTP, dGTP and TTP from the corresponding diphosphate substrates with either ATP or GTP as phosphate donor. Shows substrate preference of CDP > UDP > ADP > GDP > TDP.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AK9 Gene

Genomics for AK9 Gene

Regulatory Elements for AK9 Gene

Enhancers for AK9 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
GH06G109379 1.4 ENCODE dbSUPER 12.4 +308.9 308864 6.3 MLX CREB3L1 AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 SMPD2 ZBTB24 ENSG00000260273 MICAL1 AK9 PPIL6 ENSG00000233908 PTCHD3P3 CCDC162P LOC105377935
GH06G109690 1 ENCODE 15.5 +0.1 129 1.9 HDGF PKNOX1 CREB3L1 ARID4B SIN3A YY1 SLC30A9 ZNF766 ZNF207 ZNF143 SMPD2 AK9 ENSG00000260273 ZBTB24
GH06G109513 0.8 Ensembl ENCODE 14.4 +177.3 177310 1.4 GATA3 PRDM6 ZSCAN16 JUN TEAD4 AK9 ZBTB24
GH06G109490 1 Ensembl ENCODE 10.8 +199.9 199861 2.2 ATF1 GTF2E2 BACH1 FOSL1 ZFHX2 ZNF316 MAFK ZBTB20 L3MBTL2 NR4A1 SMPD2 AK9 MICAL1 PPIL6 ZBTB24
GH06G108967 1.5 FANTOM5 Ensembl ENCODE 4.2 +723.3 723310 2.6 PKNOX1 BMI1 RFX5 GLIS2 EGR1 ZSCAN5C SCRT2 FOS EGR2 CEBPB RNU6-653P ARMC2-AS1 ENSG00000271730 AK9 FOXO3 MICAL1 SMPD2 PIR34191
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AK9 on UCSC Golden Path with GeneCards custom track

Promoters for AK9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000200986 117 2201 HDGF PKNOX1 CREB3L1 ARID4B SIN3A YY1 SLC30A9 ZNF766 ZNF207 ZNF143

Genomic Location for AK9 Gene

Chromosome:
6
Start:
109,492,855 bp from pter
End:
109,691,217 bp from pter
Size:
198,363 bases
Orientation:
Minus strand

Genomic View for AK9 Gene

Genes around AK9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AK9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AK9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AK9 Gene

Proteins for AK9 Gene

  • Protein details for AK9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TCS8-KAD9_HUMAN
    Recommended name:
    Adenylate kinase 9
    Protein Accession:
    Q5TCS8
    Secondary Accessions:
    • A6NL75
    • B2RDJ0
    • B6ZDM7
    • Q3MIS4
    • Q5I0W8
    • Q6ZNF1
    • Q6ZVR7
    • Q8N7C6
    • Q8WW00
    • Q96NF4

    Protein attributes for AK9 Gene

    Size:
    1911 amino acids
    Molecular mass:
    221413 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI01715.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI11949.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC05368.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for AK9 Gene

neXtProt entry for AK9 Gene

Post-translational modifications for AK9 Gene

No data available for DME Specific Peptides for AK9 Gene

Domains & Families for AK9 Gene

Gene Families for AK9 Gene

Protein Domains for AK9 Gene

Suggested Antigen Peptide Sequences for AK9 Gene

Graphical View of Domain Structure for InterPro Entry

Q5TCS8

UniProtKB/Swiss-Prot:

KAD9_HUMAN :
  • Belongs to the adenylate kinase family.
Family:
  • Belongs to the adenylate kinase family.
genes like me logo Genes that share domains with AK9: view

Function for AK9 Gene

Molecular function for AK9 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=48 uM for AMP (with ATP as phosphate donor) {ECO:0000269 PubMed:23416111}; KM=3600 uM for dAMP (with ATP as phosphate donor) {ECO:0000269 PubMed:23416111}; KM=940 uM for CMP (with ATP as phosphate donor) {ECO:0000269 PubMed:23416111};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + nucleoside phosphate = ADP + nucleoside diphosphate.
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. Has both nucleoside monophosphate and diphosphate kinase activities. Catalyzes the phosphorylation of AMP, dAMP, CMP and dCMP with ATP as phosphate donor and of CMP with GTP as phosphate donor. Also catalyzes the production of ATP, CTP, GTP, UTP, dATP, dCTP, dGTP and TTP from the corresponding diphosphate substrates with either ATP or GTP as phosphate donor. Shows substrate preference of CDP > UDP > ADP > GDP > TDP.

Enzyme Numbers (IUBMB) for AK9 Gene

Gene Ontology (GO) - Molecular Function for AK9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004550 nucleoside diphosphate kinase activity IEA,IDA 23416111
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
GO:0019205 nucleobase-containing compound kinase activity IEA --
genes like me logo Genes that share ontologies with AK9: view
genes like me logo Genes that share phenotypes with AK9: view

Animal Model Products

  • Taconic Biosciences Mouse Models for AK9

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for AK9 Gene

Localization for AK9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AK9 Gene

Cytoplasm. Nucleus.

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 AK9 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for AK9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 23416111
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 23416111
GO:0005829 cytosol TAS --
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with AK9: view

Pathways & Interactions for AK9 Gene

genes like me logo Genes that share pathways with AK9: view

Gene Ontology (GO) - Biological Process for AK9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process IEA --
GO:0006174 dADP phosphorylation IDA 23416111
GO:0006186 dGDP phosphorylation IDA 23416111
GO:0006756 AMP phosphorylation IDA 23416111
GO:0006757 ATP generation from ADP IDA 23416111
genes like me logo Genes that share ontologies with AK9: view

No data available for SIGNOR curated interactions for AK9 Gene

Drugs & Compounds for AK9 Gene

No Compound Related Data Available

Transcripts for AK9 Gene

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for AK9 Gene

No ASD Table

Relevant External Links for AK9 Gene

GeneLoc Exon Structure for
AK9
ECgene alternative splicing isoforms for
AK9

Expression for AK9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AK9 Gene

Protein differential expression in normal tissues from HIPED for AK9 Gene

This gene is overexpressed in Heart (50.0), Liver, secretome (8.2), and Urinary Bladder (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for AK9 Gene



Protein tissue co-expression partners for AK9 Gene

NURSA nuclear receptor signaling pathways regulating expression of AK9 Gene:

AK9

Evidence on tissue expression from TISSUES for AK9 Gene

  • Nervous system(4.3)
  • Heart(4.1)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with AK9: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AK9 Gene

Orthologs for AK9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AK9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AKD1 34
  • 99.44 (n)
AK9 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AK9 34 35
  • 86.31 (n)
cow
(Bos Taurus)
Mammalia AKD1 34
  • 85.48 (n)
AK9 35
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ak9 34 16 35
  • 76.89 (n)
rat
(Rattus norvegicus)
Mammalia RGD1560386 34
  • 75.09 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AK9 35
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AK9 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves AKD1 34
  • 65.4 (n)
AK9 35
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AK9 35
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ak9 34
  • 60.92 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-199m3.4 34
  • 55.17 (n)
ak9 35
  • 41 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToMany
-- 35
  • 44 (a)
OneToMany
Species where no ortholog for AK9 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for AK9 Gene

ENSEMBL:
Gene Tree for AK9 (if available)
TreeFam:
Gene Tree for AK9 (if available)

Paralogs for AK9 Gene

(2) SIMAP similar genes for AK9 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with AK9: view

No data available for Paralogs for AK9 Gene

Variants for AK9 Gene

Sequence variations from dbSNP and Humsavar for AK9 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs587777713 Pathogenic 109,691,485(+) GGTTC(C/T)GTATG upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs141040807 Likely benign 109,691,462(+) ATCAT(C/G/T)AGCTC upstream-variant-2KB, reference, synonymous-codon, utr-variant-5-prime
rs200063827 Likely benign 109,691,511(+) GTACC(C/T)CCTCG intron-variant, upstream-variant-2KB
rs55873083 Likely benign 109,691,254(+) GGGGC(A/G)GGGCT upstream-variant-2KB, utr-variant-5-prime
rs75045314 Likely benign 109,691,316(+) TAGTG(C/T)CTAAT upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for AK9 Gene

Variant ID Type Subtype PubMed ID
esv3571347 CNV loss 25503493
esv3571348 CNV loss 25503493
nsv1026012 CNV loss 25217958
nsv474305 CNV novel sequence insertion 20440878
nsv510046 OTHER sequence alteration 20534489
nsv604484 CNV loss 21841781
nsv604485 CNV loss 21841781
nsv7953 CNV loss 18304495
nsv830769 CNV gain 17160897

Variation tolerance for AK9 Gene

Residual Variation Intolerance Score: 75% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 21.15; 99.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AK9 Gene

Human Gene Mutation Database (HGMD)
AK9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AK9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AK9 Gene

Disorders for AK9 Gene

Relevant External Links for AK9

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AK9

No disorders were found for AK9 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AK9 Gene

Publications for AK9 Gene

  1. The human adenylate kinase 9 is a nucleoside mono- and diphosphate kinase. (PMID: 23416111) Amiri M. … Solaroli N. (Int. J. Biochem. Cell Biol. 2013) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. 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
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 64

Products for AK9 Gene

Sources for AK9 Gene

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