AK8 adenylate kinase 8 [Homo sapiens (human)] - Gene

Summary

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
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Genomic context

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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

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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

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 EBI GWAS CatalogPubMed
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-106791 (e-PCR)
- UniSTS:170007

SHGC-151232 (e-PCR)
- UniSTS:173603

RH120235 (e-PCR)
- UniSTS:132693

SHGC-152457 (e-PCR)
- UniSTS:177518

D9S2126 (e-PCR)
- UniSTS:473723

SHGC-34984 (e-PCR)
- UniSTS:31362

STS-H71035 (e-PCR)
- UniSTS:4254

SGC31362 (e-PCR)
- UniSTS:33956

D9S1830 (e-PCR), detects polymorphism
- UniSTS:25778

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

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Preferred Names: adenylate kinase 8

Names: ATP-AMP transphosphorylase 8; putative adenylate kinase-like protein C9orf98

NP_001304887.1

EC 2.7.4.3

EC 2.7.4.6

NP_001304888.1

EC 2.7.4.3

EC 2.7.4.6

NP_001358700.1

EC 2.7.4.3

EC 2.7.4.6

NP_001358701.1

EC 2.7.4.3

EC 2.7.4.6

NP_001358702.1

EC 2.7.4.3

EC 2.7.4.6

NP_001358703.1

EC 2.7.4.3

EC 2.7.4.6

NP_689785.1

EC 2.7.4.3

EC 2.7.4.6

XP_005272226.1

EC 2.7.4.3

EC 2.7.4.6

XP_006717028.1

EC 2.7.4.3

EC 2.7.4.6

XP_011516579.1

EC 2.7.4.3

EC 2.7.4.6

XP_011516580.1

EC 2.7.4.3

EC 2.7.4.6

XP_016869797.1

EC 2.7.4.3

EC 2.7.4.6

XP_047278777.1

EC 2.7.4.3

EC 2.7.4.6

XP_047278778.1

EC 2.7.4.3

EC 2.7.4.6

XP_054218030.1

EC 2.7.4.3

EC 2.7.4.6

XP_054218031.1

EC 2.7.4.3

EC 2.7.4.6

XP_054218032.1

EC 2.7.4.3

EC 2.7.4.6

XP_054218033.1

EC 2.7.4.3

EC 2.7.4.6

XP_054218034.1

EC 2.7.4.3

EC 2.7.4.6

XP_054218035.1

EC 2.7.4.3

EC 2.7.4.6

XP_054218036.1

EC 2.7.4.3

EC 2.7.4.6

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)

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 ...
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
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 ...
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 ...
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 ...
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 ...
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

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

132725578..132879046 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
XM_047422822.1 → XP_047278778.1 adenylate kinase 8 isoform X6
XM_047422821.1 → XP_047278777.1 adenylate kinase 8 isoform X5
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 ...