Human Gene AK7 (ENST00000267584.9) from GENCODE V44
  Description: Homo sapiens adenylate kinase 7 (AK7), transcript variant 1, mRNA. (from RefSeq NM_152327)
RefSeq Summary (NM_152327): 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].
Gencode Transcript: ENST00000267584.9
Gencode Gene: ENSG00000140057.9
Transcript (Including UTRs)
   Position: hg38 chr14:96,392,128-96,489,427 Size: 97,300 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg38 chr14:96,392,155-96,488,343 Size: 96,189 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:96,392,128-96,489,427)mRNA (may differ from genome)Protein (723 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KAD7_HUMAN
DESCRIPTION: RecName: Full=Adenylate kinase 7; EC=2.7.4.3;
FUNCTION: Adenylate kinase involved in maintaining ciliary structure and function (By similarity). Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP.
CATALYTIC ACTIVITY: ATP + AMP = 2 ADP.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=1.0 uM for AMP; KM=28 uM for dAMP; KM=1.2 uM for CMP; Vmax=1130 pmol/min/ug enzyme with AMP as substrate; Vmax=860 pmol/min/ug enzyme with dAMP as substrate; Vmax=150 pmol/min/ug enzyme with CMP as substrate;
SUBCELLULAR LOCATION: Cytoplasm, cytosol.
SIMILARITY: In the central section; belongs to the adenylate kinase family.
SIMILARITY: In the C-terminal section; belongs to the dpy-30 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AK7
Diseases sorted by gene-association score: reticular dysgenesis (7), primary ciliary dyskinesia (4), kartagener syndrome (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.53 RPKM in Testis
Total median expression: 27.66 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.1027-0.078 Picture PostScript Text
3' UTR -216.001084-0.199 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000850 - Adenylate_kin
IPR007858 - Dpy-30_motif
IPR016040 - NAD(P)-bd_dom

Pfam Domains:
PF05186 - Dpy-30 motif

ModBase Predicted Comparative 3D Structure on Q96M32
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004017 adenylate kinase activity
GO:0004127 cytidylate kinase activity
GO:0004550 nucleoside diphosphate kinase activity
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0019205 nucleobase-containing compound kinase activity
GO:0019206 nucleoside kinase activity

Biological Process:
GO:0006139 nucleobase-containing compound metabolic process
GO:0006165 nucleoside diphosphate phosphorylation
GO:0009142 nucleoside triphosphate biosynthetic process
GO:0009165 nucleotide biosynthetic process
GO:0015949 nucleobase-containing small molecule interconversion
GO:0016310 phosphorylation
GO:0030030 cell projection organization

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK057426 - Homo sapiens cDNA FLJ32864 fis, clone TESTI2003625.
BC035256 - Homo sapiens adenylate kinase 7, mRNA (cDNA clone IMAGE:4828427).
DQ891711 - Synthetic construct clone IMAGE:100004341; FLH179324.01X; RZPDo839F03130D adenylate kinase 7 (AK7) gene, encodes complete protein.
DQ894888 - Synthetic construct Homo sapiens clone IMAGE:100009348; FLH179320.01L; RZPDo839F03129D adenylate kinase 7 (AK7) gene, encodes complete protein.
KJ903694 - Synthetic construct Homo sapiens clone ccsbBroadEn_13088 AK7 gene, encodes complete protein.
KJ905603 - Synthetic construct Homo sapiens clone ccsbBroadEn_15233 AK7 gene, encodes complete protein.
BC023986 - Homo sapiens adenylate kinase 7, mRNA (cDNA clone IMAGE:4069438), with apparent retained intron.
JD365113 - Sequence 346137 from Patent EP1572962.
JD511407 - Sequence 492431 from Patent EP1572962.
JD363180 - Sequence 344204 from Patent EP1572962.
JD313814 - Sequence 294838 from Patent EP1572962.
JD337876 - Sequence 318900 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00230 - Purine metabolism
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-7219 - adenosine ribonucleotides de novo biosynthesis
PWY-841 - purine nucleotides de novo biosynthesis
PWY66-409 - superpathway of purine nucleotide salvage

Reactome (by CSHL, EBI, and GO)

Protein Q96M32 (Reactome details) participates in the following event(s):

R-HSA-110137 (d)ADP or (d)CDP + ADP <=> (d)AMP or (d)CMP + ATP
R-HSA-110138 AK5,7,8,9 phosphorylates (d)NMPs to (d)NDPs
R-HSA-499943 Interconversion of nucleotide di- and triphosphates
R-HSA-15869 Metabolism of nucleotides
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000267584.1, ENST00000267584.2, ENST00000267584.3, ENST00000267584.4, ENST00000267584.5, ENST00000267584.6, ENST00000267584.7, ENST00000267584.8, KAD7_HUMAN, NM_152327, Q8IYP6, Q96M32, uc001yfn.1, uc001yfn.2, uc001yfn.3, uc001yfn.4
UCSC ID: ENST00000267584.9
RefSeq Accession: NM_152327
Protein: Q96M32 (aka KAD7_HUMAN)
CCDS: CCDS9945.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.