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AK5 adenylate kinase 5 [ Homo sapiens (human) ]

Gene ID: 26289, updated on 2-Nov-2024

Summary

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Official Symbol
AK5provided by HGNC
Official Full Name
adenylate kinase 5provided by HGNC
Primary source
HGNC:HGNC:365
See related
Ensembl:ENSG00000154027 MIM:608009; AllianceGenome:HGNC:365
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AK6
Summary
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]
Expression
Biased expression in brain (RPKM 40.3) and testis (RPKM 0.8) See more
Orthologs
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Genomic context

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See AK5 in Genome Data Viewer
Location:
1p31.1
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (77282019..77559966)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (77120194..77398823)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (77747704..78025651)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol glycan anchor biosynthesis class K Neighboring gene alanyl-tRNA synthetase domain containing 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1214 Neighboring gene uncharacterized LOC105378808 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:77730892-77731409 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1001 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:77777635-77778136 Neighboring gene Sharpr-MPRA regulatory region 3902 Neighboring gene uncharacterized LOC124904202 Neighboring gene RNA, U7 small nuclear 8 pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:77962170-77963369 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:77980030-77980998 Neighboring gene Sharpr-MPRA regulatory region 12904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1215 Neighboring gene zinc finger ZZ-type containing 3 Neighboring gene RNA, 5S ribosomal pseudogene 20 Neighboring gene RNA, 7SL, cytoplasmic 370, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Identification of novel DNA hypermethylation of the adenylate kinase 5 promoter in colorectal adenocarcinoma. Ahn B, et al. Sci Rep, 2021 Jun 16. PMID 34135408, Free PMC Article
  2. AK5, a novel prognosis marker, inhibits apoptosis and promotes autophagy as well as proliferation in human gastric cancer. Zhang LH, et al. Eur Rev Med Pharmacol Sci, 2019 Nov. PMID 31799658
  3. Identification of two active functional domains of human adenylate kinase 5. Solaroli N, et al. FEBS Lett, 2009 Sep 3. PMID 19647735
  4. Down-regulation of adenylate kinase 5 in temporal lobe epilepsy patients and rat model. Lai Y, et al. J Neurol Sci, 2016 Jul 15. PMID 27288770
  5. Identification of a novel human adenylate kinase. cDNA cloning, expression analysis, chromosome localization and characterization of the recombinant protein. Van Rompay AR, et al. Eur J Biochem, 1999 Apr. PMID 10215863

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of novel DNA hypermethylation of the adenylate kinase 5 promoter in colorectal adenocarcinoma.
    Title: Identification of novel DNA hypermethylation of the adenylate kinase 5 promoter in colorectal adenocarcinoma.
  2. AK5, a novel prognosis marker, inhibits apoptosis and promotes autophagy as well as proliferation in human gastric cancer.
    Title: AK5, a novel prognosis marker, inhibits apoptosis and promotes autophagy as well as proliferation in human gastric cancer.
  3. Results indicate that AK5 expression significantly decreased in temporal lobe epilepsy: the expression of AK5 in epileptic brain tissue may play important roles in epilepsy, especially refractory epilepsy
    Title: Down-regulation of adenylate kinase 5 in temporal lobe epilepsy patients and rat model.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  5. Data demonstrate that human adenylate kinase 5 has two separate functional domains and that both have enzymatic activity.
    Title: Identification of two active functional domains of human adenylate kinase 5.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat downregulates the expression of adenylate kinase 5 (AK5) in human primary T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC33326

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables adenylate kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables nucleoside diphosphate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nucleoside diphosphate kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in ADP biosynthetic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in ATP metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in dADP biosynthetic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in nucleoside monophosphate phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in pyrimidine ribonucleotide biosynthetic process TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
adenylate kinase isoenzyme 5
Names
AK 5
ATP-AMP transphosphorylase 5
adenylate kinase 6
NP_036225.2
NP_777283.1
XP_005270796.1
XP_006710635.1
XP_016856497.1
XP_016856501.1
XP_047273677.1
XP_047273696.1
XP_054191933.1
XP_054191934.1
XP_054191935.1
XP_054191936.1
XP_054191937.1
XP_054191938.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_012093.4 → NP_036225.2  adenylate kinase isoenzyme 5 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate and longer first exon which results in the use of a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus when it is compared to isoform 1.
    Source sequence(s)
    AC093433, AC093575, AC095030, KF459522
    Consensus CDS
    CCDS676.1
    UniProtKB/Swiss-Prot
    Q9Y6K8
    Related
    ENSP00000341430.5, ENST00000344720.9
    Conserved Domains (2) summary
    TIGR01360
    Location:348 → 535
    aden_kin_iso1; adenylate kinase, isozyme 1 subfamily
    cd01428
    Location:352 → 524
    ADK; Adenylate kinase (ADK) catalyzes the reversible phosphoryl transfer from adenosine triphosphates (ATP) to adenosine monophosphates (AMP) and to yield adenosine diphosphates (ADP). This enzyme is required for the biosynthesis of ADP and is essential for ...

  2. NM_174858.3 → NP_777283.1  adenylate kinase isoenzyme 5 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript yet it encodes the longer protein (isoform 1).
    Source sequence(s)
    AF445193, AW665223, BC036666
    Consensus CDS
    CCDS675.1
    UniProtKB/Swiss-Prot
    Q5U622, Q6FH66, Q7Z4T5, Q86YS0, Q8N464, Q96EC9, Q9Y6K8
    Related
    ENSP00000346577.2, ENST00000354567.7
    Conserved Domains (2) summary
    TIGR01360
    Location:374 → 561
    aden_kin_iso1; adenylate kinase, isozyme 1 subfamily
    cd01428
    Location:378 → 550
    ADK; Adenylate kinase (ADK) catalyzes the reversible phosphoryl transfer from adenosine triphosphates (ATP) to adenosine monophosphates (AMP) and to yield adenosine diphosphates (ADP). This enzyme is required for the biosynthesis of ADP and is essential for ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    77282019..77559966
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270739.6 → XP_005270796.1  adenylate kinase isoenzyme 5 isoform X1

    Conserved Domains (2) summary
    TIGR01360
    Location:350 → 537
    aden_kin_iso1; adenylate kinase, isozyme 1 subfamily
    cd01428
    Location:354 → 526
    ADK; Adenylate kinase (ADK) catalyzes the reversible phosphoryl transfer from adenosine triphosphates (ATP) to adenosine monophosphates (AMP) and to yield adenosine diphosphates (ADP). This enzyme is required for the biosynthesis of ADP and is essential for ...

  2. XM_017001012.2 → XP_016856501.1  adenylate kinase isoenzyme 5 isoform X3

  3. XM_047417740.1 → XP_047273696.1  adenylate kinase isoenzyme 5 isoform X4

  4. XM_047417721.1 → XP_047273677.1  adenylate kinase isoenzyme 5 isoform X2

  5. XM_017001008.3 → XP_016856497.1  adenylate kinase isoenzyme 5 isoform X2

    UniProtKB/Swiss-Prot
    Q9Y6K8
    Conserved Domains (2) summary
    TIGR01360
    Location:348 → 535
    aden_kin_iso1; adenylate kinase, isozyme 1 subfamily
    cd01428
    Location:352 → 524
    ADK; Adenylate kinase (ADK) catalyzes the reversible phosphoryl transfer from adenosine triphosphates (ATP) to adenosine monophosphates (AMP) and to yield adenosine diphosphates (ADP). This enzyme is required for the biosynthesis of ADP and is essential for ...

  6. XM_006710572.4 → XP_006710635.1  adenylate kinase isoenzyme 5 isoform X2

    UniProtKB/Swiss-Prot
    Q9Y6K8
    Conserved Domains (2) summary
    TIGR01360
    Location:348 → 535
    aden_kin_iso1; adenylate kinase, isozyme 1 subfamily
    cd01428
    Location:352 → 524
    ADK; Adenylate kinase (ADK) catalyzes the reversible phosphoryl transfer from adenosine triphosphates (ATP) to adenosine monophosphates (AMP) and to yield adenosine diphosphates (ADP). This enzyme is required for the biosynthesis of ADP and is essential for ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    77120194..77398823
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054335958.1 → XP_054191933.1  adenylate kinase isoenzyme 5 isoform X1

  2. XM_054335962.1 → XP_054191937.1  adenylate kinase isoenzyme 5 isoform X3

  3. XM_054335963.1 → XP_054191938.1  adenylate kinase isoenzyme 5 isoform X4

  4. XM_054335959.1 → XP_054191934.1  adenylate kinase isoenzyme 5 isoform X2

  5. XM_054335960.1 → XP_054191935.1  adenylate kinase isoenzyme 5 isoform X2

  6. XM_054335961.1 → XP_054191936.1  adenylate kinase isoenzyme 5 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y6K8.2 GenPept UniProtKB/Swiss-Prot:Q9Y6K8

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