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.... See more...

Aliases for AK7 Gene

Aliases for AK7 Gene

  • Adenylate Kinase 7 2 3 4 5
  • ATP-AMP Transphosphorylase 7 3 4
  • AK 7 3 4
  • Putative Adenylate Kinase 7 3
  • EC 2.7.4.3 4
  • EC 2.7.4.6 4
  • SPGF27 3

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 Spermatogenic Failure 27 and Non-Syndromic Male Infertility Due To Sperm Motility Disorder. Among its related pathways are Metabolism of nucleotides and purine nucleotides de novo biosynthesis. Gene Ontology (GO) annotations related to this gene include nucleoside diphosphate kinase activity and nucleobase-containing compound kinase activity. An important paralog of this gene is AK9.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for AK7 Gene

Genomics for AK7 Gene

GeneHancer (GH) Regulatory Elements for AK7 Gene

Promoters and enhancers for AK7 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
GH14J096390 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 -0.1 -110 2.8 ZNF785 SP1 POLR2A USF2 L3MBTL2 MAX MNT ZNF652 NKRF ZFX AK7 lnc-ATG2B-11 GSKIP PAPOLA SCARNA13 SNHG10
GH14J096424 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas 11.1 +32.1 32126 0.9 CTCF MIXL1 RAD21 ZSCAN21 PRDM1 REST PRDM10 TRIM22 ZEB2 RFX1 PEBP1P1 lnc-ATG2B-14 RNU2-33P AK7 GSKIP
GH14J096350 Enhancer 0.4 Ensembl ENCODE 11.8 -42.2 -42210 1.8 ZEB2 GSKIP AK7 RNU2-33P ATG2B RF01210-113
GH14J096426 Enhancer 0.3 Ensembl 11.1 +35.3 35290 1.6 ZSCAN29 ZNF146 GSKIP RNU2-33P AK7 PEBP1P1 piR-55194-140
GH14J096421 Enhancer 0.2 Ensembl 11.1 +29.7 29690 0.4 AK7 RNU2-33P GSKIP PEBP1P1 lnc-ATG2B-14
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AK7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AK7 gene promoter:
  • FOXD3
  • FOXL1
  • GR
  • GR-alpha
  • HSF1 (long)
  • HSF1short
  • LyF-1
  • Oct-B1
  • oct-B2
  • oct-B3

Genomic Locations for AK7 Gene

Genomic Locations for AK7 Gene
chr14:96,392,111-96,489,427
(GRCh38/hg38)
Size:
97,317 bases
Orientation:
Plus strand
chr14:96,858,448-96,955,764
(GRCh37/hg19)
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

Protein Domains for AK7 Gene

Suggested Antigen Peptide Sequences for AK7 Gene

GenScript: Design optimal peptide antigens:
  • Adenylate kinase 7 (KAD7_HUMAN)

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 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.
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, ECO:0000269 PubMed:23416111};.
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=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};

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 IDA,IEA 21080915
GO:0004127 cytidylate kinase activity IDA,IEA 21080915
GO:0004550 nucleoside diphosphate kinase activity IDA,IEA 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

Human Phenotype Ontology for AK7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for AK7

miRNA for AK7 Gene

miRTarBase miRNAs that target AK7

Clone Products

  • Addgene plasmids for AK7

No data available for Phenotypes From GWAS Catalog , 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. Cell projection, cilium, flagellum. Note=Detected along the full length of sperm flagellum, where it colocalizes with alpha-tubulin. {ECO:0000269 PubMed:29365104}.

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
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 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 --
GO:0005929 cilium IEA --
GO:0031514 motile cilium IEA --
GO:0042995 cell projection IEA --
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

Pathways by source for AK7 Gene

1 GeneGo (Thomson Reuters) pathway for AK7 Gene
2 Qiagen pathways for AK7 Gene
  • AMPK Enzyme Complex Pathway
  • Cholera Infection

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:0015949 nucleobase-containing small molecule interconversion TAS --
GO:0016310 phosphorylation IEA --
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, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(3) Additional Compounds for AK7 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
dADP
  • 2'-Deoxyadenosine-5'-diphosphate
  • Deoxyadenosine diphosphate
2793-06-8
Deoxyadenosine monophosphate
  • 2'-dAMP
  • 2'-Deoxy-5'-adenosine monophosphate
  • 2'-Deoxy-AMP
  • 2'-Deoxyadenosine 5'-(dihydrogen phosphate)
  • 2'-Deoxyadenosine 5'-monophosphate
653-63-4
genes like me logo Genes that share compounds with AK7: view

Transcripts for AK7 Gene

Clone Products

  • Addgene plasmids for AK7

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 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

mRNA Expression by UniProt/SwissProt for AK7 Gene:

Q96M32-KAD7_HUMAN
Tissue specificity: Expressed in sperm and airway epithelial cells (at protein level).
genes like me logo Genes that share expression patterns with AK7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , 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 32
  • 99.17 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AK7 33 32
  • 87.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AK7 33 32
  • 86.65 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ak7 32
  • 82.68 (n)
mouse
(Mus musculus)
Mammalia Ak7 17 33 32
  • 82.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AK7 33
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AK7 33
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves AK7 33 32
  • 69.85 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AK7 33
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ak7 32
  • 66.1 (n)
Str.9896 32
African clawed frog
(Xenopus laevis)
Amphibia ak7-A-prov 32
zebrafish
(Danio rerio)
Actinopterygii ak7b 33 32
  • 58.82 (n)
OneToMany
ak7a 33
  • 50 (a)
OneToMany
Dr.28379 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12827 32
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 53 (a)
OneToOne
Cin.5754 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5754 32
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)
Aminode:
Evolutionary constrained regions (ECRs) for AK7: view image

Paralogs for AK7 Gene

Paralogs for AK7 Gene

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

  • KAD7_HUMAN
  • G3V365_HUMAN
  • H0YIY5_HUMAN
genes like me logo Genes that share paralogs with AK7: view

Variants for AK7 Gene

Sequence variations from dbSNP and Humsavar for AK7 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs116298211 likely-pathogenic, pathogenic, SPERMATOGENIC FAILURE 27, Spermatogenic failure 27 (SPGF27) [MIM:617965] 96,486,941(+) T/C/G coding_sequence_variant, missense_variant
rs2275554 benign, not specified, - 96,404,767(+) G/A coding_sequence_variant, missense_variant
rs2369679 benign, not specified, - 96,456,415(+) C/G coding_sequence_variant, missense_variant
rs587777029 uncertain-significance, Ciliary dyskinesia 96,456,419(+) T/TT coding_sequence_variant, frameshift
rs10444759 benign, not specified 96,449,891(+) C/T 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)

Additional Variant Information for AK7 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AK7 Gene

MalaCards: The human disease database

(4) MalaCards diseases for AK7 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spermatogenic failure 27
  • spgf27
non-syndromic male infertility due to sperm motility disorder
  • non-syndromic male infertility due asthenozoospermia
reticular dysgenesis
  • rd
primary ciliary dyskinesia
  • pcd
- elite association - COSMIC cancer census association via MalaCards
Search AK7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KAD7_HUMAN
  • Spermatogenic failure 27 (SPGF27) [MIM:617965]: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple morphologic abnormalities of the sperm flagella, including short, irregular, coiled, or absent flagella. {ECO:0000269 PubMed:29365104}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AK7

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

No data available for Genatlas for AK7 Gene

Publications for AK7 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 56
  2. Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia. (PMID: 29365104) Lorès P … Touré A (Human molecular genetics 2018) 3 4 56
  3. 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 56
  4. 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 43 56
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56

Products for AK7 Gene

Sources for AK7 Gene