Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	158067
Gene name Gene Name - the full gene name approved by the HGNC.	Adenylate kinase 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AK8
Synonyms (NCBI Gene) Gene synonyms aliases	AK 8, C9orf98, DDX31
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q34.13

Show/Hide all(29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004017	Function	AMP kinase activity	IBA
GO:0004017	Function	AMP kinase activity	IDA	21080915
GO:0004017	Function	AMP kinase activity	IEA
GO:0004550	Function	Nucleoside diphosphate kinase activity	IDA	23416111
GO:0004550	Function	Nucleoside diphosphate kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183, 32814053, 33139725
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005930	Component	Axoneme	IEA
GO:0006139	Process	Nucleobase-containing compound metabolic process	IEA
GO:0009117	Process	Nucleotide metabolic process	IEA
GO:0009123	Process	Nucleoside monophosphate metabolic process	IEA
GO:0016208	Function	AMP binding	IDA	33139725
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016776	Function	Phosphotransferase activity, phosphate group as acceptor	IEA
GO:0019205	Function	Nucleobase-containing compound kinase activity	IEA
GO:0021591	Process	Ventricular system development	IEA
GO:0036126	Component	Sperm flagellum	IEA
GO:0036431	Function	DCMP kinase activity	IDA	21080915
GO:0042995	Component	Cell projection	IEA
GO:0046940	Process	Nucleoside monophosphate phosphorylation	IEA
GO:0097729	Component	9+2 motile cilium	IDA	33139725
GO:0097729	Component	9+2 motile cilium	IEA

MIM	HGNC	e!Ensembl
615365	26526	ENSG00000165695

Protein

UniProt ID

Q96MA6

Protein name

Adenylate kinase 8 (AK 8) (EC 2.7.4.3) (EC 2.7.4.6) (ATP-AMP transphosphorylase 8)

Protein function

Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP. Als

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00406	ADK	62 → 237		Domain
PF00406	ADK	273 → 451		Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in respiratory cells (at protein level). {ECO:0000269|PubMed:33139725}.

Sequence

MDATIAPHRIPPEMPQYGEENHIFELMQNMLEQLLIHQPEDPIPFMIQHLHRDNDNVPRI
VILGPPASGKTTIAMWLCKHLNSSLLTLENLILNEFSYTATEARRLYLQRKTVPSALLVQ
LIQERLAEEDCIKQGWILDGIPETREQALRIQTLGITPRHVIVLSAPDTVLIERNLGKRI
DPQTGEIYHTTFDWPPESEIQNRLMVPEDISELETAQKLLEYHRNIVRVIPSYPKILKVI
SADQPCVDVFYQALTYVQSNHRTNAPFTPRVLLLGPVGSGKSLQAALLAQKYRLVNVCCG
QLLKEAVADRTTFGELIQPFFEKEMAVPDSLLMKVLSQRLDQQDCIQKGWVLHGVPRDLD
QAHLLNRLGYNPNRVFFLNVPFDSIMERLTLRRIDPVTGERYHLMYKPPPTMEIQARLLQ
NPKDAEEQVKLKMDLFYRNSADLEQLYGSAITLNGDQDPYTVFEYIESGIINPLPKKIP

Sequence length

479

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Thiamine metabolism Metabolic pathways Nucleotide metabolism Biosynthesis of cofactors		Interconversion of nucleotide di- and triphosphates

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Attention Deficit Hyperactivity Disorder	Attention deficit hyperactivity disorder	N/A	N/A	GWAS
Mental Depression	Major depressive disorder	N/A	N/A	GWAS
Prostate cancer	Prostate cancer	N/A	N/A	GWAS

AK8 (adenylate kinase 8)