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] See more...

Aliases for AK9 Gene

Aliases for AK9 Gene

  • Adenylate Kinase 9 2 3 4 5
  • Adenylate Kinase Domain Containing 1 2 3
  • Adenylate Kinase Domain Containing 2 2 3
  • C6orf199 3 4
  • C6orf224 3 4
  • AKD1 3 4
  • AKD2 3 4
  • AK 9 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. Diseases associated with AK9 include Postsynaptic Congenital Myasthenic Syndromes and Reticular Dysgenesis. Among its related pathways are Metabolism and Metabolism of nucleotides. Gene Ontology (GO) annotations related to this gene include nucleoside diphosphate kinase activity and nucleoside monophosphate kinase activity. An important paralog of this gene is AK7.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for AK9 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AK9 Gene

Genomics for AK9 Gene

GeneHancer (GH) Regulatory Elements for AK9 Gene

Promoters and enhancers for AK9 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
GH06J109690 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 515.4 -0.1 -84 5 ZBTB40 ZNF217 NRF1 POLR2G GTF2E2 PHF8 SIX5 CTCF ZNF10 ZIC2 AK9 FIG4 SMPD2 ENSG00000260273 ZBTB24 piR-60146-163
GH06J109379 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.4 +309.0 308972 6.5 FOXK2 ZBTB40 ZNF217 EP300 CTCF TCF12 SIN3A MYC NRF1 USF1 ENSG00000260273 CD164 SMPD2 ZBTB24 MICAL1 AK9 PPIL6 ENSG00000233908 PTCHD3P3 CCDC162P
GH06J109438 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.5 +250.6 250570 3.5 HNRNPK EP300 CTCF SIN3A MYC POLR2G SP1 GTF2E2 PHF8 ZFX SMPD2 PPIL6 ZBTB24 ENSG00000260273 AK9 MICAL1 FIG4
GH06J109490 Enhancer 0.9 Ensembl ENCODE 10.8 +199.9 199861 2.2 GTF2E2 TRIM28 MYC OSR2 ZNF316 ZBTB17 FOSL1 ZFHX2 MNT POLR2A SMPD2 AK9 MICAL1 PPIL6 ENSG00000223537 LOC105377935 RF00017-5725
GH06J109735 Enhancer 0.6 Ensembl ENCODE 13.7 -45.4 -45383 1.6 TEAD4 HDAC2 SP1 POU5F1 AK9 SMPD2 piR-60146-163 FIG4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AK9 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AK9

Genomic Locations for AK9 Gene

Genomic Locations for AK9 Gene
chr6:109,492,855-109,691,217
(GRCh38/hg38)
Size:
198,363 bases
Orientation:
Minus strand
chr6:109,814,059-110,012,420
(GRCh37/hg19)
Size:
198,362 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI11949.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC05368.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for AK9 Gene

neXtProt entry for AK9 Gene

Post-translational modifications for AK9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AK9 Gene

Domains & Families for AK9 Gene

Gene Families for AK9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for AK9 Gene

Blocks:
  • Adenylate kinase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AK9 Gene

GenScript: Design optimal peptide antigens:
  • Adenylate kinase domain-containing protein 2 (AKD1_HUMAN)
  • C6orf224 protein (B7ZL24_HUMAN)

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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a ribonucleoside 5'-phosphate + ATP = a ribonucleoside 5'-diphosphate + ADP; Xref=Rhea:RHEA:24036, ChEBI:CHEBI:30616, ChEBI:CHEBI:57930, ChEBI:CHEBI:58043, ChEBI:CHEBI:456216; EC=2.7.4.4; 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=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};

Enzyme Numbers (IUBMB) for AK9 Gene

Phenotypes From GWAS Catalog 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 IDA,IEA 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

Human Phenotype Ontology for AK9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for AK9

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AK9

No data available for 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
mitochondrion 2
plasma membrane 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AK9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 23416111
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 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

mRNA/cDNA for AK9 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AK9

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

No ASD Table

Relevant External Links for AK9 Gene

GeneLoc Exon Structure for
AK9

Expression for AK9 Gene

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



Protein tissue co-expression partners for AK9 Gene

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

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 30
  • 99.44 (n)
AK9 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AK9 31 30
  • 86.31 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AKD1 30
  • 85.48 (n)
AK9 31
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ak9 17 31 30
  • 76.89 (n)
rat
(Rattus norvegicus)
Mammalia RGD1560386 30
  • 75.09 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AK9 31
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AK9 31
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves AKD1 30
  • 65.4 (n)
AK9 31
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AK9 31
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ak9 30
  • 60.92 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-199m3.4 30
  • 55.17 (n)
ak9 31
  • 41 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToMany
-- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AK9: view image

Paralogs for AK9 Gene

Paralogs for AK9 Gene

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

  • KAD9_HUMAN
  • E9PPM3_HUMAN
  • E9PPU7_HUMAN
  • F8WBV8_HUMAN
  • H0Y8C5_HUMAN
  • H0YCD1_HUMAN
  • H7C505_HUMAN
  • H7C517_HUMAN
  • J3KP89_HUMAN
genes like me logo Genes that share paralogs with AK9: view

Variants for AK9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AK9 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
668144 Likely Benign: not provided 109,691,071(-) A/G NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for AK9 Gene

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)

Additional Variant Information for AK9 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AK9 Gene

MalaCards: The human disease database

(4) MalaCards diseases for AK9 Gene - From: Orphanet and DISEASES

Disorder Aliases PubMed IDs
postsynaptic congenital myasthenic syndromes
  • congenital myasthenic syndromes, postsynaptic
reticular dysgenesis
  • rd
breast adenoid cystic carcinoma
  • adenoid cystic carcinoma of breast
ovary serous adenocarcinoma
  • malignant ovarian serous tumor
- elite association - COSMIC cancer census association via MalaCards
Search AK9 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with AK9: view

No data available for 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 (The international journal of biochemistry & cell biology 2013) 2 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 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. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for AK9 Gene

Sources for AK9 Gene