U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

AK8 adenylate kinase 8 [ Homo sapiens (human) ]

Gene ID: 158067, updated on 27-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
AK8provided by HGNC
Official Full Name
adenylate kinase 8provided by HGNC
Primary source
HGNC:HGNC:26526
See related
Ensembl:ENSG00000165695 MIM:615365; AllianceGenome:HGNC:26526
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AK 8; DDX31; C9orf98
Summary
Enables AMP binding activity and nucleobase-containing compound kinase activity. Predicted to be involved in nucleoside monophosphate phosphorylation and phosphorylation. Predicted to act upstream of or within ventricular system development. Located in 9+2 motile cilium. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis (RPKM 3.3), thyroid (RPKM 0.7) and 8 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See AK8 in Genome Data Viewer
Location:
9q34.13
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (132725578..132879046, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (144936841..145090859, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (135600965..135754433, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135486212-135486944 Neighboring gene DEAD-box helicase 31 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135545227-135546094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29221 Neighboring gene general transcription factor IIIC subunit 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135597764-135598270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135599285-135599790 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135608498-135608998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135608999-135609499 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:135620695-135621194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29222 Neighboring gene Sharpr-MPRA regulatory region 7884 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:135683689-135684190 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:135711155-135711317 Neighboring gene U6 spliceosomal RNA Neighboring gene ReSE screen-validated silencer GRCh37_chr9:135729901-135730092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135731149-135731650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135731651-135732150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135732573-135733346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135738096-135738827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29223 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:135778941-135779625 Neighboring gene sperm acrosome associated 9 Neighboring gene TSC complex subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20438 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20439 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135819875-135820608 Neighboring gene microRNA 548aw Neighboring gene growth factor independent 1B transcriptional repressor

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: 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

Go to the top of the pageHelp

Related articles in PubMed

  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. Panayiotou C, et al. Biochem J, 2011 Feb 1. PMID 21080915
  2. 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
  3. CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module. Dougherty GW, et al. Nat Commun, 2020 Nov 2. PMID 33139725, Free PMC Article
  4. The human adenylate kinase 9 is a nucleoside mono- and diphosphate kinase. Amiri M, et al. Int J Biochem Cell Biol, 2013 May. PMID 23416111
  5. Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. Lesch KP, et al. J Neural Transm (Vienna), 2008 Nov. PMID 18839057

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Both AK7 and full-length AK8 showed highest affinity for AMP with ATP as the phosphate donor, and proved to be more efficient in AMP phosphorylation as compared with the major cytosolic isoform AK1
    Title: The characterization of human adenylate kinases 7 and 8 demonstrates differences in kinetic parameters and structural organization among the family of adenylate kinase isoenzymes.
  2. 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.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
EBI GWAS Catalog
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ32704, FLJ36014

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables (d)CMP kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables AMP binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables adenylate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables adenylate kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables nucleoside diphosphate kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in nucleoside monophosphate phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in ventricular system development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in 9+2 motile cilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in axoneme IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in sperm flagellum IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
adenylate kinase 8
Names
ATP-AMP transphosphorylase 8
putative adenylate kinase-like protein C9orf98
NP_001304887.1
NP_001304888.1
NP_001358700.1
NP_001358701.1
NP_001358702.1
NP_001358703.1
NP_689785.1
XP_005272226.1
XP_006717028.1
XP_011516579.1
XP_011516580.1
XP_016869797.1
XP_047278777.1
XP_047278778.1
XP_054218030.1
XP_054218031.1
XP_054218032.1
XP_054218033.1
XP_054218034.1
XP_054218035.1
XP_054218036.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001317958.2 → NP_001304887.1  adenylate kinase 8 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL160165, AL445645
    UniProtKB/Swiss-Prot
    Q96MA6
    Conserved Domains (1) summary
    cd01428
    Location:66 → 258
    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_001317959.2 → NP_001304888.1  adenylate kinase 8 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL160165, AL445645
    UniProtKB/Swiss-Prot
    Q96MA6
    Related
    ENST00000477396.5
    Conserved Domains (2) summary
    cd01428
    Location:98 → 290
    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 ...
    TIGR01351
    Location:98 → 296
    adk; adenylate kinase

  3. NM_001371771.1 → NP_001358700.1  adenylate kinase 8 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL160165, AL445645
    Conserved Domains (1) summary
    cd01428
    Location:241 → 433
    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 ...

  4. NM_001371772.1 → NP_001358701.1  adenylate kinase 8 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL160165, AL445645
    Conserved Domains (2) summary
    PLN02842
    Location:58 → 205
    PLN02842; nucleotide kinase
    cd01428
    Location:225 → 417
    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 ...

  5. NM_001371773.1 → NP_001358702.1  adenylate kinase 8 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL160165, AL445645
    Conserved Domains (1) summary
    cd01428
    Location:66 → 258
    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. NM_001371774.1 → NP_001358703.1  adenylate kinase 8 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL160165, AL445645
    Conserved Domains (1) summary
    cd01428
    Location:66 → 258
    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 ...

  7. NM_152572.3 → NP_689785.1  adenylate kinase 8 isoform 1

    See identical proteins and their annotated locations for NP_689785.1

    Status: VALIDATED

    Source sequence(s)
    AL160165, AL445645
    Consensus CDS
    CCDS6954.1
    UniProtKB/Swiss-Prot
    A8K821, Q8N9W9, Q96MA6
    Related
    ENSP00000298545.3, ENST00000298545.4
    Conserved Domains (1) summary
    cd01428
    Location:270 → 462
    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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    132725578..132879046 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518278.3 → XP_011516580.1  adenylate kinase 8 isoform X3

    Conserved Domains (2) summary
    cd01428
    Location:196 → 388
    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 ...
    TIGR01351
    Location:196 → 394
    adk; adenylate kinase

  2. XM_005272169.3 → XP_005272226.1  adenylate kinase 8 isoform X1

    Conserved Domains (2) summary
    cd01428
    Location:282 → 474
    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 ...
    TIGR01351
    Location:282 → 480
    adk; adenylate kinase

  3. XM_006716965.3 → XP_006717028.1  adenylate kinase 8 isoform X2

    Conserved Domains (2) summary
    cd01428
    Location:198 → 390
    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 ...
    TIGR01351
    Location:198 → 396
    adk; adenylate kinase

  4. XM_017014308.2 → XP_016869797.1  adenylate kinase 8 isoform X7

    Conserved Domains (2) summary
    cd01428
    Location:98 → 290
    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 ...
    TIGR01351
    Location:98 → 296
    adk; adenylate kinase

  5. XM_047422822.1 → XP_047278778.1  adenylate kinase 8 isoform X6

  6. XM_047422821.1 → XP_047278777.1  adenylate kinase 8 isoform X5

  7. XM_011518277.3 → XP_011516579.1  adenylate kinase 8 isoform X4

    Conserved Domains (3) summary
    cd01428
    Location:71 → 261
    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 ...
    TIGR01351
    Location:71 → 270
    adk; adenylate kinase
    cl17190
    Location:282 → 335
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    144936841..145090859 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054362057.1 → XP_054218032.1  adenylate kinase 8 isoform X3

  2. XM_054362055.1 → XP_054218030.1  adenylate kinase 8 isoform X1

  3. XM_054362056.1 → XP_054218031.1  adenylate kinase 8 isoform X2

  4. XM_054362061.1 → XP_054218036.1  adenylate kinase 8 isoform X7

  5. XM_054362060.1 → XP_054218035.1  adenylate kinase 8 isoform X6

  6. XM_054362059.1 → XP_054218034.1  adenylate kinase 8 isoform X5

  7. XM_054362058.1 → XP_054218033.1  adenylate kinase 8 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96MA6.1 GenPept UniProtKB/Swiss-Prot:Q96MA6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous