Human Gene AK5 (ENST00000354567.7) Description and Page Index
  Description: Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA. (from RefSeq NM_174858)
RefSeq Summary (NM_174858): This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000354567.7
Gencode Gene: ENSG00000154027.19
Transcript (Including UTRs)
   Position: hg38 chr1:77,282,019-77,559,966 Size: 277,948 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg38 chr1:77,282,314-77,558,670 Size: 276,357 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:77,282,019-77,559,966)mRNA (may differ from genome)Protein (562 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: KAD5_HUMAN
DESCRIPTION: RecName: Full=Adenylate kinase isoenzyme 5; Short=AK 5; EC=2.7.4.3; AltName: Full=ATP-AMP transphosphorylase 5;
FUNCTION: Active on AMP and dAMP with ATP as a donor. When GTP is used as phosphate donor, the enzyme phosphorylates AMP, CMP, and to a small extent dCMP.
CATALYTIC ACTIVITY: ATP + AMP = 2 ADP.
SUBUNIT: Monomer (By similarity).
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Brain specific.
SIMILARITY: Belongs to the adenylate kinase family.

-  MalaCards Disease Associations
  MalaCards Gene Search: AK5
Diseases sorted by gene-association score: anterograde amnesia (15), prosopagnosia (9), limbic encephalitis (6), connective tissue cancer (5)

-  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: 50.30 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 271.21 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 -171.30295-0.581 Picture PostScript Text
3' UTR -317.201296-0.245 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
IPR006267 - Adenylate_kin1
IPR003117 - cAMP_dep_PK_reg_su_I/II_a/b
IPR007858 - Dpy-30_motif

Pfam Domains:
PF00406 - Adenylate kinase
PF05186 - Dpy-30 motif

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2BWJ
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9Y6K8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004017 adenylate 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:0006172 ADP biosynthetic process
GO:0006173 dADP biosynthetic process
GO:0009142 nucleoside triphosphate biosynthetic process
GO:0009220 pyrimidine ribonucleotide biosynthetic process
GO:0015949 nucleobase-containing small molecule interconversion
GO:0016310 phosphorylation
GO:0046034 ATP metabolic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AF445193 - Homo sapiens unknown mRNA.
BC036666 - Homo sapiens adenylate kinase 5, mRNA (cDNA clone MGC:33326 IMAGE:4816351), complete cds.
BC033896 - Homo sapiens adenylate kinase 5, mRNA (cDNA clone MGC:33394 IMAGE:4818069), complete cds.
AY171600 - Homo sapiens adenylate kinase 6 mRNA, complete cds.
BC012467 - Homo sapiens adenylate kinase 5, mRNA (cDNA clone IMAGE:4472053), partial cds.
AK090967 - Homo sapiens cDNA FLJ33648 fis, clone BRAMY2024449, weakly similar to ADENYLATE KINASE ISOENZYME 1 (EC 2.7.4.3).
AX746708 - Sequence 233 from Patent EP1308459.
JD441365 - Sequence 422389 from Patent EP1572962.
JD065921 - Sequence 46945 from Patent EP1572962.
JD478331 - Sequence 459355 from Patent EP1572962.
JD406938 - Sequence 387962 from Patent EP1572962.
JD269843 - Sequence 250867 from Patent EP1572962.
JD406867 - Sequence 387891 from Patent EP1572962.
JD155316 - Sequence 136340 from Patent EP1572962.
AF062595 - Homo sapiens adenylate kinase 5 (AK5) mRNA, complete cds.
CR541890 - Homo sapiens full open reading frame cDNA clone RZPDo834B0733D for gene AK5, adenylate kinase 5; complete cds, without stopcodon.
AK127119 - Homo sapiens cDNA FLJ45176 fis, clone BRAWH3046802.
JD246351 - Sequence 227375 from Patent EP1572962.
JD124394 - Sequence 105418 from Patent EP1572962.
JD121475 - Sequence 102499 from Patent EP1572962.
JD273456 - Sequence 254480 from Patent EP1572962.
JD554600 - Sequence 535624 from Patent EP1572962.
JD172622 - Sequence 153646 from Patent EP1572962.
JD097226 - Sequence 78250 from Patent EP1572962.
JD230211 - Sequence 211235 from Patent EP1572962.
JD267384 - Sequence 248408 from Patent EP1572962.
JD471927 - Sequence 452951 from Patent EP1572962.
JD524952 - Sequence 505976 from Patent EP1572962.
JD489799 - Sequence 470823 from Patent EP1572962.
JD313551 - Sequence 294575 from Patent EP1572962.
JD509267 - Sequence 490291 from Patent EP1572962.
JD498332 - Sequence 479356 from Patent EP1572962.
JD492741 - Sequence 473765 from Patent EP1572962.
JD236546 - Sequence 217570 from Patent EP1572962.
JD036585 - Sequence 17609 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-7224 - purine deoxyribonucleosides salvage
PWY-841 - purine nucleotides de novo biosynthesis
PWY66-409 - superpathway of purine nucleotide salvage

Reactome (by CSHL, EBI, and GO)

Protein Q9Y6K8 (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: KAD5_HUMAN, NM_174858, Q5U622, Q6FH66, Q7Z4T5, Q86YS0, Q8N464, Q96EC9, Q9Y6K8, uc001dhn.1, uc001dhn.2, uc001dhn.3, uc001dhn.4, uc001dhn.5
UCSC ID: uc001dhn.5
RefSeq Accession: NM_174858
Protein: Q9Y6K8 (aka KAD5_HUMAN)
CCDS: CCDS676.1, CCDS675.1

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