AK9 (adenylate kinase 9)

Gene

• Entrez ID: 221264
• Gene name: Adenylate kinase 9
• Gene symbol: AK9
• Synonyms (NCBI Gene): AK 9, AKD1, AKD2, C6orf199, C6orf224, SPGF89, dJ70A9.1
• Chromosome: 6
• Chromosome location: 6q21
• Summary: The protein encoded by this gene catalyzes the interconversion of nucleosides, possessing both nucleoside monophosphate and diphosphate kinase activities. The encoded protein uses these interconversions to maintain nucleoside homeostasis. [provided by Ref

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004017	Function	AMP kinase activity	IEA
GO:0004550	Function	Nucleoside diphosphate kinase activity	IBA
GO:0004550	Function	Nucleoside diphosphate kinase activity	IDA	23416111
GO:0004550	Function	Nucleoside diphosphate kinase activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	23416111
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23416111
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005929	Component	Cilium	IEA
GO:0006139	Process	Nucleobase-containing compound metabolic process	IEA
GO:0006225	Process	UDP biosynthetic process	IBA
GO:0009117	Process	Nucleotide metabolic process	IEA
GO:0009123	Process	Nucleoside monophosphate metabolic process	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
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:0031514	Component	Motile cilium	IEA
GO:0031965	Component	Nuclear membrane	IDA
GO:0033862	Function	UMP kinase activity	IBA
GO:0036430	Function	CMP kinase activity	IEA
GO:0036431	Function	DCMP kinase activity	IEA
GO:0042995	Component	Cell projection	IEA
GO:0046705	Process	CDP biosynthetic process	IBA
GO:0046940	Process	Nucleoside monophosphate phosphorylation	IEA
GO:0047506	Function	DAMP kinase activity	IEA
GO:0050145	Function	Nucleoside monophosphate kinase activity	IDA	23416111
GO:0050145	Function	Nucleoside monophosphate kinase activity	IEA

Other IDs

• MIM: 615358
• HGNC: 33814
• e!Ensembl: ENSG00000155085

Protein

• UniProt ID: Q5TCS8
• Protein name: Adenylate kinase 9 (EC 2.7.4.4) (EC 2.7.4.6) (Adenylate kinase domain-containing protein 1) (Adenylate kinase domain-containing protein 2)
• Protein function: Broad-specificity nucleoside phosphate kinase involved in cellular nucleotide homeostasis by catalyzing nucleoside-phosphate interconversions. Similar to other adenylate kinases, preferentially catalyzes the phosphorylation of the nucleoside mon
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00406	ADK	35 → 249		Domain
  PF00406	ADK	1416 → 1613		Domain

• Sequence:

  MTSQEKTEEYPFADIFDEDETERNFLLSKPVCFVVFGKPGVGKTTLARYITQAWKCIRVE
  ALPILEEQIAAETESGVMLQSMLISGQSIPDELVIKLMLEKLNSPEVCHFGYIITEIPSL
  SQDAMTTLQQIELIKNLNLKPDVIINIKCPDYDLCQRISGQRQHNNTGYIYSRDQWDPEV
  IENHRKKKKEAQKDGKGEEEEEEEEQEEEEAFIAEMQMVAEILHHLVQRPEDYLENVENI
  VKLYKETILQTLEEVMAEHNPQYLIELNGNKPAEELFMIVMDRLKYLNLKRAAILTKLQG
  AEEEINDTMENDELFRTLASYKLIAPRYRWQRSKWGRTCPVNLKDGNIYSGLPDYSVSFL
  GKIYCLSSEEALKPFLLNPRPYLLPPMPGPPCKVFILGPQYSGKTTLCNMLAENYKGKVV
  DYAQLVQPRFDKARETLVENTIAEATAAAIKVVKEKLLRELQARKQAETALREFQRQYEK
  MEFGVFPMEATHSSIDEEGYIQGSQRDRGSSLVDTEEAKTKSENVLHDQAAKVDKDDGKE
  TGETFTFKRHSQDASQDVKLYSDTAPTEDLIEEVTADHPEVVTMIEETIKMSQDINFEQP
  YEKHAEILQEVLGEVMEENKDRFPGAPKYGGWIVDNCPIVKELWMALIKKGIIPDLVIYL
  SDTENNGKCLFNRIYLQKKSEIDSKILERLLEELQKKKKEEEEARKATEEELRLEEENRR
  LLELMKVKAKEAEETDNEDEEEIEGDELEVHEEPEASHDTRGSWLPEEFEASEVPETEPE
  AVSEPIEETTVETEIPKGSKEGLEIEKLSETVVLPEFPEDSYPDVPEMEPFKEKIGSFII
  LWKQLEATISEAYIKILNLEIADRTPQELLQKVVETMEKPFQYTAWELTGEDYEEETEDY
  QTEAEVDEELEEEEEEEGEDKMKERKRHLGDTKHFCPVVLKENFILQPGNTEEAAKYREK
  IYYFSSAEAKEKFLEHPEDYVAHEEPLKAPPLRICLVGPQGSGKTMCGRQLAEKLNIFHI
  QFEEVLQEKLLLKTEKKVGPEFEEDSENEQAAKQELEELAIQANVKVEEENTKKQLPEVQ
  LTEEEEVIKSSLMENEPLPPEILEVILSEWWLKEPIRSTGFILDGFPRYPEEAQFLGDRG
  FFPDAAVFIQVDDQDIFDRLLPAQIEKWKLKQKKKLERKKLIKDMKAKIRVDTIAKRRAE
  LILERDKKRRENVVRDDEEISEEELEEDNDDIENILEDEFPKDEEEMSGEEDEEQETDAI
  ERLRGELGEKFEADTHNLQIIQDELERYLIPIISINGARRNHIVQYTLNMKLKPLVENRA
  SIFEKCHPIPAPLAQKMLTFTYKYISSFGYWDPVKLSEGETIKPVENAENPIYPVIHRQY
  IYFLSSKETKEKFMKNPIKYIRQPKPKPTVPIRIIIVGPPKSGKTTVAKKITSEYGLKHL
  SIGGALRYVLNNHPETELALMLNWHLHKGMTAPDELAIQALELSLMESVCNTAGVVIDGY
  PVTKHQMNLLEARSIIPMVIFELSVPSKEIFKRLLLEKENEQRLPYPLHNSAQIVAVNNV
  KYRKNIGEIRQYYQEQHQNWYVIDGFHSKWWVWNEVIKNVQMVNKYMQTYLERIKAGKAA
  CIDKLCITPQELLSRLGEFEQFCPVSLAESQELFDCSATDSLEFAAEFRGHYYKMSSQEK
  LNKFLENPELYVPPLAPHPLPSADMIPKRLTLSELKSRFPKCAELQGYCPVTYKDGNQRY
  EALVPGSINYALEYHNRIYICENKEKLQKFLRSPLKYWEQKLPHKLPPLREPILLTSLPL
  PGYLEQGIATSLIKAMNAAGCLKPKFPFLSIRRSALLYIALHLKAFNPKGSEYTRKKYKK
  KMEQFMESCELITYLGAKMTRKYKEPQFRAIDFDHKLKTFLSLRNIDPING

• Sequence length: 1911

Pathways

KEGG:

Purine metabolism
Pyrimidine metabolism
Metabolic pathways
Nucleotide metabolism
Biosynthesis of cofactors

Reactome:

Interconversion of nucleotide di- and triphosphates

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Spermatogenic failure 89	Pathogenic	rs1313545397, rs2484266469, rs1204130200	RCV003494548 RCV003494549 RCV003494550	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLONAL HEMATOPOIESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTSYNAPTIC CONGEN MYASTHENIC SYNDROMES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital myasthenic syndrome ib	Congenital myasthenic syndrome	Pubtator	27966543	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Myasthenic Syndromes, Postsynaptic	Myasthenic Syndrome	ORPHANET_DG	27966543		★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	30219690		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Postsynaptic congenital myasthenic syndromes	Myasthenic Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only