Aliases for AK8 Gene

Aliases for AK8 Gene

  • Adenylate Kinase 8 2 3 4 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. Diseases associated with AK8 include Reticular Dysgenesis. Among its related pathways are purine nucleotides de novo biosynthesis and Thiamine metabolism. Gene Ontology (GO) annotations related to this gene include nucleoside diphosphate kinase activity and cytidylate kinase activity. An important paralog of this gene is AK9.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for AK8 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AK8 Gene

Genomics for AK8 Gene

GeneHancer (GH) Regulatory Elements for AK8 Gene

Promoters and enhancers for AK8 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
GH09J132877 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 520.3 -0.2 -164 3.5 ZNF217 EP300 TCF12 SIN3A POLR2G SP1 PHF8 ZFX POLR2A CLOCK AK8 SPACA9 RF00017-8033 RF00017-8032
GH09J133029 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 20.7 -151.8 -151790 3.6 ZBTB40 ZNF217 EP300 ZSCAN5C TCF12 SIN3A ZNF300 POLR2G SP1 NCOR1 GTF3C5 LOC105376306 RF00017-8034 TTF1 TSC1 DDX31 GTF3C4 MED22 SETX BRD3OS
GH09J132848 Enhancer 1 Ensembl ENCODE dbSUPER 24.7 +28.1 28117 4.2 CTCF USF1 TCF7 TOE1 MXI1 ZNF384 EHMT2 BATF ZBTB7A BHLHE40 RF00017-8032 AK8 SPACA9 piR-53444
GH09J132780 Enhancer 1 Ensembl ENCODE 24.7 +98.0 97989 1.2 AFF1 NFRKB ZNF316 ARNT CREB3L1 GABPA MAX NCOR1 NFE2 FOSL1 AK8 SPACA9 RNU5D-2P TTF1 piR-53444 RF00017-8032
GH09J132855 Enhancer 1 Ensembl ENCODE dbSUPER 21.6 +19.5 19510 6.6 ZIC2 ZNF423 ZNF341 OSR2 CTCF CEBPB FOXA1 IKZF3 HIC1 CEBPG AK8 RNU5D-2P SPACA9 lnc-TSC1-2 RF00017-8032 RF00026-1148
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AK8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AK8

Genomic Locations for AK8 Gene

Genomic Locations for AK8 Gene
chr9:132,725,574-132,878,811
(GRCh38/hg38)
Size:
153,238 bases
Orientation:
Minus strand
chr9:135,600,965-135,754,198
(GRCh37/hg19)
Size:
153,234 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

No data available for DME Specific Peptides for AK8 Gene

Domains & Families for AK8 Gene

Gene Families for AK8 Gene

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

Protein Domains for AK8 Gene

Blocks:
  • Adenylate kinase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AK8 Gene

GenScript: Design optimal peptide antigens:
  • Adenylate kinase 8 (KAD8_HUMAN)

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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=AMP + ATP = 2 ADP; Xref=Rhea:RHEA:12973, ChEBI:CHEBI:30616, ChEBI:CHEBI:456215, ChEBI:CHEBI:456216; EC=2.7.4.3; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 2'-deoxyribonucleoside 5'-diphosphate + ATP = a 2'-deoxyribonucleoside 5'-triphosphate + ADP; Xref=Rhea:RHEA:44640, ChEBI:CHEBI:30616, ChEBI:CHEBI:61560, ChEBI:CHEBI:73316, ChEBI:CHEBI:456216; EC=2.7.4.6; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a ribonucleoside 5'-diphosphate + ATP = a ribonucleoside 5'-triphosphate + ADP; Xref=Rhea:RHEA:18113, ChEBI:CHEBI:30616, ChEBI:CHEBI:57930, ChEBI:CHEBI:61557, ChEBI:CHEBI:456216; EC=2.7.4.6; Evidence=. ;.
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};

Enzyme Numbers (IUBMB) for AK8 Gene

Phenotypes From GWAS Catalog 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

  • Taconic Biosciences Mouse Models for AK8

CRISPR Products

miRNA for AK8 Gene

miRTarBase miRNAs that target AK8

Clone Products

  • Addgene plasmids for AK8

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 4
cytoskeleton 3
nucleus 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 0

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AK8 Gene

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:0015949 nucleobase-containing small molecule interconversion TAS --
GO:0016310 phosphorylation IEA --
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, Investigational Nutra 0
Bis(Adenosine)-5'-Pentaphosphate Experimental Pharma Target 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with AK8: view

Transcripts for AK8 Gene

mRNA/cDNA for AK8 Gene

7 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for AK8

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

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 and MOPED for AK8 Gene



Protein tissue co-expression partners for AK8 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AK8

SOURCE GeneReport for Unigene cluster for AK8 Gene:

Hs.421340

Evidence on tissue expression from TISSUES for AK8 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with AK8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 99.1 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AK8 31 30
  • 84.9 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AK8 31 30
  • 83.72 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ak8 17 31 30
  • 78.38 (n)
rat
(Rattus norvegicus)
Mammalia Ak8 30
  • 77.75 (n)
oppossum
(Monodelphis domestica)
Mammalia AK8 31
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AK8 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves AK8 31 30
  • 64.14 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AK8 31
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ak8 30
  • 61.59 (n)
MGC76170 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.16566 30
zebrafish
(Danio rerio)
Actinopterygii ak8 31 30
  • 55.3 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3842 30
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADK2 31
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AMK2 30
  • 45.11 (n)
rice
(Oryza sativa)
Liliopsida Os08g0109300 30
  • 47.12 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToOne
Cin.855 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.855 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for AK8: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AK8 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs17407084 - p.Asp130Gly
rs2231400 - p.Ile5Thr

Additional dbSNP identifiers (rs#s) for AK8 Gene

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

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

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)

Additional Variant Information for AK8 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AK8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for AK8 Gene - From: DISEASES

Disorder Aliases PubMed IDs
reticular dysgenesis
  • rd
- elite association - COSMIC cancer census association via MalaCards
Search AK8 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with AK8: view

No data available for 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 (The Biochemical journal 2011) 2 3 4 54
  2. The human adenylate kinase 9 is a nucleoside mono- and diphosphate kinase. (PMID: 23416111) Amiri M … Solaroli N (The international journal of biochemistry & cell biology 2013) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease. (PMID: 27503909) Teixeira FR … Laman H (The Biochemical journal 2016) 3 54
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 54

Products for AK8 Gene

Sources for AK8 Gene