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
  • FLJ32704 2
  • DDX31 3
  • AK8 5

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 Metabolism of nucleotides. 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.

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 Pubs

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 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 270.3 +0.1 71 3.6 SP1 ZNF207 MYC IKZF1 BRCA1 NFIC SMAD5 SIN3A ELK1 BHLHE40 AK8 SPACA9 RF00017-7432
GH09J133029 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 20.7 -151.6 -151555 3.6 BCLAF1 SP1 ZNF207 MYC NCOR1 IKZF1 ZNF600 SIX5 ZNF580 ATF2 GTF3C5 LOC105376306 RF00017-7434 SETX TTF1 MED22 TSC1 DDX31 GTF3C4 SPACA9
GH09J132848 Enhancer 1 Ensembl ENCODE dbSUPER 24.7 +28.4 28352 4.2 BHLHE40 PRDM10 EHMT2 RAD51 BATF CTCF CHD1 RXRB L3MBTL2 GATA2 RF00017-7432 AK8 SPACA9 HSALNG0074953 DDX31
GH09J132780 Enhancer 0.9 Ensembl ENCODE 24.7 +97.7 97745 2.2 ARNT ZNF316 NFE2 ATF1 SMARCA4 EHMT2 ETV1 HDAC2 EGR1 NR2F1 HSALNG0074952 AK8 SPACA9 RNU5D-2P TTF1 piR-53444 DDX31
GH09J132855 Enhancer 1 Ensembl ENCODE dbSUPER 21.6 +19.7 19745 6.6 ZIC2 CEBPB ZNF341 CTCF BCL11B FOXA1 GLIS1 ZFP69B HLF ZEB2 AK8 RNU5D-2P SPACA9 lnc-TSC1-2 RF00017-7432 RF00026-1103 DDX31
- 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 the GeneHancer Hub at the UCSC Golden Path

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

Genomic Locations for AK8 Gene

Latest Assembly
chr9:132,725,574-132,879,046
(GRCh38/hg38)
Size:
153,473 bases
Orientation:
Minus strand

Previous Assembly
chr9:135,600,965-135,754,433
(GRCh37/hg19 by Entrez Gene)
Size:
153,469 bases
Orientation:
Minus strand

chr9:135,600,965-135,754,164
(GRCh37/hg19 by Ensembl)
Size:
153,200 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

InterPro:
Blocks:
  • Adenylate kinase

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={ECO:0000269|PubMed:21080915};.
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={ECO:0000269|PubMed:21080915, ECO:0000269|PubMed:23416111};.
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={ECO:0000269|PubMed:21080915, ECO:0000269|PubMed:23416111};.
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:0000166 nucleotide binding IEA --
GO:0004017 adenylate kinase activity IBA,IDA 21080915
GO:0004127 cytidylate kinase activity IBA,IDA 21080915
GO:0004550 nucleoside diphosphate kinase activity IBA,IDA 23416111
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with AK8: view
genes like me logo Genes that share phenotypes with AK8: view

Animal Models for research

  • Taconic Biosciences Mouse Models for AK8

miRNA for AK8 Gene

miRTarBase miRNAs that target AK8

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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 IBA 21873635
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:0006163 purine nucleotide metabolic process IBA --
GO:0006165 nucleoside diphosphate phosphorylation IDA 23416111
GO:0009142 nucleoside triphosphate biosynthetic process IDA 23416111
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, Investigational Nutra 0
Bis(Adenosine)-5'-Pentaphosphate Experimental Pharma Target 0
ATP Investigational Nutra 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
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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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 expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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(4.2)
genes like me logo Genes that share expression patterns with AK8: view

Primer products for research

No data available for 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 29 30
  • 99.1 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AK8 29 30
  • 84.9 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AK8 29 30
  • 83.72 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ak8 29 16 30
  • 78.38 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ak8 29
  • 77.75 (n)
Oppossum
(Monodelphis domestica)
Mammalia AK8 30
  • 72 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AK8 30
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AK8 29 30
  • 64.14 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AK8 30
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ak8 29
  • 61.59 (n)
MGC76170 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.16566 29
Zebrafish
(Danio rerio)
Actinopterygii ak8 29 30
  • 55.3 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3842 29
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADK2 30
  • 24 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AMK2 29
  • 45.11 (n)
Rice
(Oryza sativa)
Liliopsida Os08g0109300 29
  • 47.12 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 47 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.855 29
Species where no ortholog for AK8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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
Alliance of Genome Resources:
Additional Orthologs for AK8

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

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AK8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
AK8

SNP Genotyping and Copy Number Assays for research

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: COP

Disorder Aliases PubMed IDs
reticular dysgenesis
  • reticular dysgenesia
- elite association - COSMIC cancer census association via MalaCards
Search AK8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AK8

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
  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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3

Products for AK8 Gene

Sources for AK8 Gene