Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AK7 Gene

Aliases for AK7 Gene

  • Adenylate Kinase 7 2 3 5
  • ATP-AMP Transphosphorylase 7 4
  • EC 2.7.4.3 4
  • EC 2.7.4.6 4
  • AK 7 4

External Ids for AK7 Gene

Previous GeneCards Identifiers for AK7 Gene

  • GC14P090675
  • GC14P094848
  • GC14P095928
  • GC14P096858
  • GC14P077043

Summaries for AK7 Gene

Entrez Gene Summary for AK7 Gene

  • This gene encodes a member of the adenylate kinase family of enzymes. The encoded enzyme is a phosphotransferase that catalyzes the reversible phosphorylation of adenine nucleotides. This enzyme plays a role in energy homeostasis of the cell. Alternative splicing results in multiple transcript variants. Mutations in the mouse gene are associated with primary ciliary dyskinesia. [provided by RefSeq, Apr 2017]

GeneCards Summary for AK7 Gene

AK7 (Adenylate Kinase 7) is a Protein Coding gene. Diseases associated with AK7 include Reticular Dysgenesis and Primary Ciliary Dyskinesia. Among its related pathways are Metabolism and Purine metabolism. GO annotations related to this gene include nucleoside diphosphate kinase activity and nucleobase-containing compound kinase activity.

UniProtKB/Swiss-Prot for AK7 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. Involved in maintaining ciliary structure and function.

Additional gene information for AK7 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AK7 Gene

Genomics for AK7 Gene

Regulatory Elements for AK7 Gene

Enhancers for AK7 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
GH14H096424 0.8 ENCODE 11.1 +32.5 32478 0 CTCF ZNF2 RAD21 RFX5 ZNF664 E2F1 SMC3 ZNF143 ZNF207 PRDM10 RNU2-33P AK7 GSKIP PEBP1P1 GC14M096457
GH14H096350 0.4 ENCODE 11.8 -42.6 -42621 0 ZEB2 AK7 RNU2-33P GSKIP ENSG00000258729
GH14H096349 0.4 ENCODE 11.8 -42.2 -42233 0 ZEB2 AK7 RNU2-33P GSKIP ENSG00000258729
GH14H096390 1 ENCODE 0.7 -0.3 -320 1 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 GLIS2 ZNF143 RUNX3 SP3 GSKIP AK7 RNU2-33P
GH14H096409 0.7 ENCODE 0.4 +17.8 17758 0 HDAC1 SOX5 SOX13 GATAD2A FOXA2 SOX6 HMG20A FOSL1 JUND NFE2 RNU2-33P GSKIP PAPOLA GC14M096423 AK7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AK7 on UCSC Golden Path with GeneCards custom track

Promoters for AK7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000072753 -11 1800 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 GLIS2 ZNF143 RUNX3 SP3

Genomic Location for AK7 Gene

Chromosome:
14
Start:
96,392,111 bp from pter
End:
96,489,427 bp from pter
Size:
97,317 bases
Orientation:
Plus strand

Genomic View for AK7 Gene

Genes around AK7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AK7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AK7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AK7 Gene

Proteins for AK7 Gene

  • Protein details for AK7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96M32-KAD7_HUMAN
    Recommended name:
    Adenylate kinase 7
    Protein Accession:
    Q96M32
    Secondary Accessions:
    • Q8IYP6

    Protein attributes for AK7 Gene

    Size:
    723 amino acids
    Molecular mass:
    82658 Da
    Quaternary structure:
    No Data Available

neXtProt entry for AK7 Gene

Post-translational modifications for AK7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AK7 Gene

Domains & Families for AK7 Gene

Gene Families for AK7 Gene

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

Suggested Antigen Peptide Sequences for AK7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96M32

UniProtKB/Swiss-Prot:

KAD7_HUMAN :
  • In the central section; belongs to the adenylate kinase family.
Family:
  • In the central section; belongs to the adenylate kinase family.
  • In the C-terminal section; belongs to the dpy-30 family.
genes like me logo Genes that share domains with AK7: view

Function for AK7 Gene

Molecular function for AK7 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.0 uM for AMP {ECO:0000269 PubMed:21080915}; KM=28 uM for dAMP {ECO:0000269 PubMed:21080915}; KM=1.2 uM for CMP {ECO:0000269 PubMed:21080915}; Vmax=1130 pmol/min/ug enzyme with AMP as substrate {ECO:0000269 PubMed:21080915}; Vmax=860 pmol/min/ug enzyme with dAMP as substrate {ECO:0000269 PubMed:21080915}; Vmax=150 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. Involved in maintaining ciliary structure and function.

Enzyme Numbers (IUBMB) for AK7 Gene

Gene Ontology (GO) - Molecular Function for AK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004017 adenylate kinase activity IEA,IDA 21080915
GO:0004127 cytidylate kinase activity IDA,IEA 21080915
GO:0004550 nucleoside diphosphate kinase activity IEA,IDA 23416111
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with AK7: view
genes like me logo Genes that share phenotypes with AK7: view

Animal Model Products

  • Taconic Biosciences Mouse Models for AK7

CRISPR Products

miRNA for AK7 Gene

miRTarBase miRNAs that target AK7

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AK7
  • Applied Biological Materials Clones for AK7
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AK7 Gene

Localization for AK7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AK7 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 AK7 gene
Compartment Confidence
cytosol 5
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for AK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with AK7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AK7 Gene

Pathways & Interactions for AK7 Gene

genes like me logo Genes that share pathways with AK7: view

Gene Ontology (GO) - Biological Process for AK7 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 AK7: view

No data available for SIGNOR curated interactions for AK7 Gene

Drugs & Compounds for AK7 Gene

(2) Drugs for AK7 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
ATP Nutra Agonist 0

(3) Additional Compounds for AK7 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
dADP
  • 2'-Deoxyadenosine-5'-diphosphate
  • dADP
  • Deoxyadenosine diphosphate
2793-06-8
Deoxyadenosine monophosphate
  • 2'-dAMP
  • 2'-Deoxy-5'-adenylate
  • 2'-Deoxy-5'-adenylic acid
  • 2'-Deoxy-Adenosine 5'-phosphorate
  • 2'-Deoxy-Adenosine 5'-phosphoric acid
653-63-4
genes like me logo Genes that share compounds with AK7: view

Transcripts for AK7 Gene

Unigene Clusters for AK7 Gene

Adenylate kinase 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AK7
  • Applied Biological Materials Clones for AK7
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for AK7 Gene

No ASD Table

Relevant External Links for AK7 Gene

GeneLoc Exon Structure for
AK7
ECgene alternative splicing isoforms for
AK7

Expression for AK7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AK7 Gene

Protein differential expression in normal tissues from HIPED for AK7 Gene

This gene is overexpressed in Testis (63.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for AK7 Gene



Protein tissue co-expression partners for AK7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AK7 Gene:

AK7

SOURCE GeneReport for Unigene cluster for AK7 Gene:

Hs.667462
genes like me logo Genes that share expression patterns with AK7: 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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for AK7 Gene

Orthologs for AK7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AK7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AK7 33 34
  • 99.17 (n)
dog
(Canis familiaris)
Mammalia AK7 33 34
  • 87.26 (n)
cow
(Bos Taurus)
Mammalia AK7 33 34
  • 86.65 (n)
rat
(Rattus norvegicus)
Mammalia Ak7 33
  • 82.68 (n)
mouse
(Mus musculus)
Mammalia Ak7 33 16 34
  • 82.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AK7 34
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AK7 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves AK7 33 34
  • 69.85 (n)
lizard
(Anolis carolinensis)
Reptilia AK7 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ak7 33
  • 66.1 (n)
Str.9896 33
African clawed frog
(Xenopus laevis)
Amphibia ak7-A-prov 33
zebrafish
(Danio rerio)
Actinopterygii ak7b 33 34
  • 58.82 (n)
ak7a 34
  • 50 (a)
OneToMany
Dr.28379 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12827 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5754 33
Species where no ortholog for AK7 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)
  • 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)
  • 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 AK7 Gene

ENSEMBL:
Gene Tree for AK7 (if available)
TreeFam:
Gene Tree for AK7 (if available)

Paralogs for AK7 Gene

(1) SIMAP similar genes for AK7 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with AK7: view

No data available for Paralogs for AK7 Gene

Variants for AK7 Gene

Sequence variations from dbSNP and Humsavar for AK7 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs587777029 Uncertain significance 96,456,419(+) CTACT(-/T)ACAAA reference, frameshift-variant
rs1000022206 -- 96,394,567(+) AGCAG(A/C)GGCCA intron-variant
rs1000030455 -- 96,394,285(+) ACTTC(A/G)TTAGG intron-variant
rs1000058204 -- 96,454,341(+) TTACT(A/G)ATATT intron-variant
rs1000063346 -- 96,425,147(+) GGAGA(C/T)AGACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AK7 Gene

Variant ID Type Subtype PubMed ID
esv2674373 CNV deletion 23128226
esv3552013 CNV deletion 23714750
esv3635423 CNV gain 21293372
esv3635424 CNV loss 21293372
esv3635425 CNV loss 21293372
esv3635426 CNV gain 21293372
nsv510389 OTHER sequence alteration 20534489
nsv565649 CNV gain 21841781
nsv977500 CNV duplication 23825009

Variation tolerance for AK7 Gene

Residual Variation Intolerance Score: 49.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.27; 85.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AK7 Gene

Human Gene Mutation Database (HGMD)
AK7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AK7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AK7 Gene

Disorders for AK7 Gene

MalaCards: The human disease database

(3) MalaCards diseases for AK7 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
reticular dysgenesis
  • aleukocytosis
primary ciliary dyskinesia
  • kartagener syndrome
kartagener syndrome
  • kartagener's syndrome
- elite association - COSMIC cancer census association via MalaCards
Search AK7 in MalaCards View complete list of genes associated with diseases

Relevant External Links for AK7

Genetic Association Database (GAD)
AK7
Human Genome Epidemiology (HuGE) Navigator
AK7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AK7
genes like me logo Genes that share disorders with AK7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AK7 Gene

Publications for AK7 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) 3 4 60
  2. 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) 3 4 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R … Weissenbach J (Nature 2003) 3 4 60

Products for AK7 Gene

  • Addgene plasmids for AK7

Sources for AK7 Gene

Content
Loading form....