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Aliases for AK8 Gene

Aliases for AK8 Gene

  • Adenylate Kinase 8 2 3 5
  • ATP-AMP Transphosphorylase 8 3 4
  • C9orf98 3 4
  • AK 8 3 4
  • Putative Adenylate Kinase-Like Protein C9orf98 3
  • Chromosome 9 Open Reading Frame 98 2
  • EC 2.7.4.3 4
  • EC 2.7.4.6 4
  • DDX31 3

External Ids for AK8 Gene

Previous HGNC Symbols for AK8 Gene

  • C9orf98

Previous GeneCards Identifiers for AK8 Gene

  • GC09M135601

Summaries for AK8 Gene

GeneCards Summary for AK8 Gene

AK8 (Adenylate Kinase 8) is a Protein Coding gene. Among its related pathways are Metabolism and purine nucleotides de novo biosynthesis. GO annotations related to this gene include nucleoside diphosphate kinase activity and cytidylate kinase activity. An important paralog of this gene is AK2.

UniProtKB/Swiss-Prot for AK8 Gene

  • Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP. Also displays broad nucleoside diphosphate kinase activity.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AK8 Gene

Genomics for AK8 Gene

Regulatory Elements for AK8 Gene

Enhancers for AK8 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
GH09F132780 1.1 Ensembl ENCODE 24.7 +98.0 97989 1.2 HDAC1 ATF1 CREB3L1 NFRKB FOS CREM JUNB ELF1 ZNF589 SMARCA4 AK8 SPACA9 RNU5D-2P TTF1 PIR47443
GH09F132877 1.1 ENCODE 20.4 -0.4 -431 3.0 ATF1 CREB3L1 ARID4B SIN3A YBX1 ZNF48 BRCA1 ZNF121 GLIS2 ELK1 AK8 PIR61136
GH09F132848 0.9 Ensembl ENCODE 24.6 +29.5 29515 1.4 CTCF USF1 L3MBTL2 HLF BHLHE40 ZBTB7A JUND RAD51 GLIS2 GLIS1 AK8 SPACA9 PIR47443
GH09F132794 0.8 ENCODE 14.6 +83.8 83844 1.2 BCOR KLF1 LEF1 SUZ12 ZKSCAN1 ZNF324 ZNF664 ZBTB48 POLR2A SCRT2 AK8 PIR47443 SPACA9
GH09F132787 0.7 ENCODE 14.2 +90.7 90664 0.9 SOX13 SOX5 HLF CEBPB CEBPG GABPA RELA HNF1A IKZF1 CEBPA AK8 TTF1 PIR47443 SPACA9
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AK8 on UCSC Golden Path with GeneCards custom track

Promoters for AK8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001316651 211 2001 ATF1 CREB3L1 ARID4B SIN3A YBX1 ZNF48 BRCA1 ZNF121 GLIS2 ELK1

Genomic Location for AK8 Gene

Chromosome:
9
Start:
132,725,574 bp from pter
End:
132,878,811 bp from pter
Size:
153,238 bases
Orientation:
Minus strand

Genomic View for AK8 Gene

Genes around AK8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AK8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AK8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AK8 Gene

Proteins for AK8 Gene

  • Protein details for AK8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MA6-KAD8_HUMAN
    Recommended name:
    Adenylate kinase 8
    Protein Accession:
    Q96MA6
    Secondary Accessions:
    • A8K821
    • Q8N9W9

    Protein attributes for AK8 Gene

    Size:
    479 amino acids
    Molecular mass:
    54926 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for AK8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AK8 Gene

Post-translational modifications for AK8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AK8 Gene

No data available for DME Specific Peptides for AK8 Gene

Domains & Families for AK8 Gene

Gene Families for AK8 Gene

Protein Domains for AK8 Gene

Suggested Antigen Peptide Sequences for AK8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96MA6

UniProtKB/Swiss-Prot:

KAD8_HUMAN :
  • Belongs to the adenylate kinase family.
Family:
  • Belongs to the adenylate kinase family.
genes like me logo Genes that share domains with AK8: view

Function for AK8 Gene

Molecular function for AK8 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=4.1 uM for AMP {ECO:0000269 PubMed:21080915}; KM=630 uM for dAMP {ECO:0000269 PubMed:21080915}; KM=1.4 uM for CMP {ECO:0000269 PubMed:21080915}; Vmax=2400 pmol/min/ug enzyme with AMP as substrate {ECO:0000269 PubMed:21080915}; Vmax=1360 pmol/min/ug enzyme with dAMP as substrate {ECO:0000269 PubMed:21080915}; Vmax=190 pmol/min/ug enzyme with CMP as substrate {ECO:0000269 PubMed:21080915};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + AMP = 2 ADP.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + nucleoside diphosphate = ADP + nucleoside triphosphate.
UniProtKB/Swiss-Prot Function:
Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP. Also displays broad nucleoside diphosphate kinase activity.

Enzyme Numbers (IUBMB) for AK8 Gene

Gene Ontology (GO) - Molecular Function for AK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004017 adenylate kinase activity IDA 21080915
GO:0004127 cytidylate kinase activity IDA 21080915
GO:0004550 nucleoside diphosphate kinase activity IEA,IDA 23416111
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with AK8: view
genes like me logo Genes that share phenotypes with AK8: view

Animal Model Products

miRNA for AK8 Gene

miRTarBase miRNAs that target AK8

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AK8 Gene

Localization for AK8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AK8 Gene

Cytoplasm, cytosol.

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 AK8 gene
Compartment Confidence
cytosol 5
cytoskeleton 3
mitochondrion 2
extracellular 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for AK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005930 axoneme IEA --
GO:0036126 sperm flagellum IEA --
genes like me logo Genes that share ontologies with AK8: view

Pathways & Interactions for AK8 Gene

genes like me logo Genes that share pathways with AK8: view

Gene Ontology (GO) - Biological Process for AK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process IEA --
GO:0006165 nucleoside diphosphate phosphorylation IDA 23416111
GO:0009142 nucleoside triphosphate biosynthetic process IDA 23416111
GO:0009165 nucleotide biosynthetic process IEA --
GO:0015949 nucleobase-containing small molecule interconversion TAS --
genes like me logo Genes that share ontologies with AK8: view

No data available for SIGNOR curated interactions for AK8 Gene

Drugs & Compounds for AK8 Gene

(3) Drugs for AK8 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Bis(Adenosine)-5'-Pentaphosphate Experimental Pharma Target 0

(1) Additional Compounds for AK8 Gene - From: HMDB

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
genes like me logo Genes that share compounds with AK8: view

Transcripts for AK8 Gene

Unigene Clusters for AK8 Gene

Adenylate kinase 8:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AK8 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15
SP1: - - -
SP2: - - -
SP3: -
SP4: - -
SP5:

Relevant External Links for AK8 Gene

GeneLoc Exon Structure for
AK8
ECgene alternative splicing isoforms for
AK8

Expression for AK8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AK8 Gene

mRNA differential expression in normal tissues according to GTEx for AK8 Gene

This gene is overexpressed in Testis (x13.0).

Protein differential expression in normal tissues from HIPED for AK8 Gene

This gene is overexpressed in Testis (44.9) and Brain (24.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for AK8 Gene



Protein tissue co-expression partners for AK8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AK8 Gene:

AK8

SOURCE GeneReport for Unigene cluster for AK8 Gene:

Hs.421340
genes like me logo Genes that share expression patterns with AK8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for AK8 Gene

Orthologs for AK8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AK8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AK8 34 35
  • 99.1 (n)
dog
(Canis familiaris)
Mammalia AK8 34 35
  • 84.9 (n)
cow
(Bos Taurus)
Mammalia AK8 34 35
  • 83.72 (n)
mouse
(Mus musculus)
Mammalia Ak8 34 16 35
  • 78.38 (n)
rat
(Rattus norvegicus)
Mammalia Ak8 34
  • 77.75 (n)
oppossum
(Monodelphis domestica)
Mammalia AK8 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AK8 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves AK8 34 35
  • 64.14 (n)
lizard
(Anolis carolinensis)
Reptilia AK8 35
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ak8 34
  • 61.59 (n)
MGC76170 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.16566 34
zebrafish
(Danio rerio)
Actinopterygii ak8 34 35
  • 55.3 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3842 34
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADK2 35
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AMK2 34
  • 45.11 (n)
rice
(Oryza sativa)
Liliopsida Os08g0109300 34
  • 47.12 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.855 34
Species where no ortholog for AK8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AK8 Gene

ENSEMBL:
Gene Tree for AK8 (if available)
TreeFam:
Gene Tree for AK8 (if available)

Paralogs for AK8 Gene

Paralogs for AK8 Gene

genes like me logo Genes that share paralogs with AK8: view

Variants for AK8 Gene

Sequence variations from dbSNP and Humsavar for AK8 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000012 -- 132,827,654(+) GTATA(A/C)ATACC intron-variant, upstream-variant-2KB
rs10115366 -- 132,832,059(+) cttgt(C/T)tctga intron-variant
rs10115367 -- 132,832,061(+) tgtct(C/T)tgaaa intron-variant
rs10115625 -- 132,766,811(+) GAAAT(C/G)CATAA intron-variant
rs10117024 -- 132,779,640(+) GCTAT(C/T)AACCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AK8 Gene

Variant ID Type Subtype PubMed ID
esv2739138 CNV deletion 23290073
esv2669233 CNV deletion 23128226
esv23761 CNV loss 19812545
esv1992766 CNV deletion 18987734
esv1077930 CNV insertion 17803354
esv1023755 CNV deletion 17803354
dgv1513e214 CNV gain 21293372
dgv12924n54 CNV loss 21841781
dgv12923n54 CNV loss 21841781
dgv12922n54 CNV loss 21841781
dgv12921n54 CNV loss 21841781
nsv831743 CNV loss 17160897
nsv615589 CNV loss 21841781
nsv615576 CNV loss 21841781
nsv615575 CNV loss 21841781
nsv615574 CNV loss 21841781
nsv615573 CNV loss 21841781
nsv517306 CNV loss 19592680
nsv512122 CNV loss 21212237
nsv510206 OTHER sequence alteration 20534489
nsv416899 CNV insertion 16902084
nsv1115241 CNV deletion 24896259
nsv1051206 CNV gain 25217958
nsv1047708 CNV loss 25217958
esv3621923 CNV loss 21293372
esv3621921 CNV loss 21293372
esv3545556 CNV deletion 23714750
esv3361229 CNV insertion 20981092
esv2739145 CNV deletion 23290073
esv2739144 CNV deletion 23290073
esv2739143 CNV deletion 23290073
esv2739142 CNV deletion 23290073
esv2739141 CNV deletion 23290073

Variation tolerance for AK8 Gene

Residual Variation Intolerance Score: 61.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.58; 65.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AK8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AK8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AK8 Gene

Disorders for AK8 Gene

Relevant External Links for AK8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AK8

No disorders were found for AK8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AK8 Gene

Publications for AK8 Gene

  1. The characterization of human adenylate kinases 7 and 8 demonstrates differences in kinetic parameters and structural organization among the family of adenylate kinase isoenzymes. (PMID: 21080915) Panayiotou C. … Karlsson A. (Biochem. J. 2011) 2 3 4 64
  2. 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
  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. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  5. Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. (PMID: 23377640) (Am J Psychiatry 2013) 3 64

Products for AK8 Gene

Sources for AK8 Gene

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