AK7 (adenylate kinase 7)

Gene

• Entrez ID: 122481
• Gene name: Adenylate kinase 7
• Gene symbol: AK7
• Synonyms (NCBI Gene): AK 7, CFAP75, FAP75, SPGF27
• Chromosome: 14
• Chromosome location: 14q32.2
• Summary: This gene encodes a member of the adenylate kinase family of enzymes. The encoded enzyme is a phosphotransferase that catalyzes the reversible phosphorylation of adenine nucleotides. This enzyme plays a role in energy homeostasis of the cell. Alternative

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs116298211	T>C,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017406	hsa-miR-335-5p	Microarray	18185580
MIRT756309	hsa-miR-370-5p	qRT-PCR	38247802
MIRT775175	hsa-miR-1305	CLIP-seq
MIRT775176	hsa-miR-186	CLIP-seq
MIRT775177	hsa-miR-3133	CLIP-seq
MIRT775178	hsa-miR-3148	CLIP-seq
MIRT775179	hsa-miR-3163	CLIP-seq
MIRT775180	hsa-miR-330-3p	CLIP-seq
MIRT775181	hsa-miR-345	CLIP-seq
MIRT775182	hsa-miR-3920	CLIP-seq
MIRT775183	hsa-miR-4263	CLIP-seq
MIRT775184	hsa-miR-4422	CLIP-seq
MIRT775185	hsa-miR-4511	CLIP-seq
MIRT775186	hsa-miR-4659a-3p	CLIP-seq
MIRT775187	hsa-miR-4659b-3p	CLIP-seq
MIRT775188	hsa-miR-4719	CLIP-seq
MIRT775189	hsa-miR-4744	CLIP-seq
MIRT775190	hsa-miR-4760-5p	CLIP-seq
MIRT775191	hsa-miR-511	CLIP-seq
MIRT775192	hsa-miR-548b-3p	CLIP-seq
MIRT775193	hsa-miR-556-5p	CLIP-seq
MIRT775194	hsa-miR-576-5p	CLIP-seq
MIRT775195	hsa-miR-607	CLIP-seq
MIRT775196	hsa-miR-610	CLIP-seq
MIRT775197	hsa-miR-875-3p	CLIP-seq
MIRT1928735	hsa-miR-1283	CLIP-seq
MIRT1928736	hsa-miR-338-5p	CLIP-seq
MIRT1928737	hsa-miR-3618	CLIP-seq
MIRT1928738	hsa-miR-369-3p	CLIP-seq
MIRT1928739	hsa-miR-374c	CLIP-seq
MIRT1928740	hsa-miR-376c	CLIP-seq
MIRT775195	hsa-miR-607	CLIP-seq
MIRT1928741	hsa-miR-655	CLIP-seq

Gene ontology (GO)

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	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:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005929	Component	Cilium	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: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:0030030	Process	Cell projection organization	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0036431	Function	DCMP kinase activity	IDA	21080915
GO:0042995	Component	Cell projection	IEA
GO:0046940	Process	Nucleoside monophosphate phosphorylation	IEA

Other IDs

• MIM: 615364
• HGNC: 20091
• e!Ensembl: ENSG00000140057

Protein

• UniProt ID: Q96M32
• Protein name: Adenylate kinase 7 (AK 7) (EC 2.7.4.3) (EC 2.7.4.6) (ATP-AMP transphosphorylase 7)
• 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	431 → 674		Domain
  PF05186	Dpy-30	679 → 720	Dpy-30 motif	Motif

• Tissue specificity: TISSUE SPECIFICITY: Expressed in sperm and airway epithelial cells (at protein level). {ECO:0000269|PubMed:29365104}.
• Sequence:

  MAEEEETAALTEKVIRTQRVFINLLDSYSSGNIGKFLSNCVVGASLEEITEEEEEEDENK
  SAMLEASSTKVKEGTFQIVGTLSKPDSPRPDFAVETYSAISREDLLMRLLECDVIIYNIT
  ESSQQMEEAIWAVSALSEEVSHFEKRKLFILLSTVMTWARSKALDPEDSEVPFTEEDYRR
  RKSHPNFLDHINAEKMVLKFGKKARKFAAYVVAAGLQYGAEGGMLHTFFKMAWLGEIPAL
  PVFGDGTNVIPTIHVLDLAGVIQNVIDHVPKPHYLVAVDESVHTLEDIVKCISKNTGPGK
  IQKIPRENAYLTKDLTQDCLDHLLVNLRMEALFVKENFNIRWAAQTGFVENINTILKEYK
  QSRGLMPIKICILGPPAVGKSSIAKELANYYKLHHIQLKDVISEAIAKLEAIVAPNDVGE
  GEEEVEEEEEEENVEDAQELLDGIKESMEQNAGQLDDQYIIRFMKEKLKSMPCRNQGYIL
  DGFPKTYDQAKDLFNQEDEEEEDDVRGRMFPFDKLIIPEFVCALDASDEFLKERVINLPE
  SIVAGTHYSQDRFLRALSNYRDINIDDETVFNYFDELEIHPIHIDVGKLEDAQNRLAIKQ
  LIKEIGEPRNYGLTDEEKAEEERKAAEERLAREAAEEAEREHQEAVEMAEKIARWEEWNK
  RLEEVKREERELLEAQSIPLRNYLMTYVMPTLIQGLNECCNVRPEDPVDFLAEYLFKNNP
  EAQ

• Sequence length: 723

Pathways

KEGG:

Purine metabolism
Thiamine 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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AK7-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL IMPAIRMENT OF SPERMATOZOA MOTILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary ciliary dyskinesia	Uncertain significance	ClinVar ClinGen, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Spermatogenic failure 27	Uncertain significance; no classifications from unflagged records; Conflicting classifications of pathogenicity	ClinVar ClinGen, ClinVar, Disgenet, GenCC, HPO ClinGen, ClinVar, Disgenet, GenCC, HPO ClinGen, ClinVar, Disgenet, GenCC, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthenozoospermia	Asthenozoospermia	BEFREE	29365104		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	38492416	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	36401332	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	32736695	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	36401332	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	38492416	Associate	★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	22801010, 29365104		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	38492416	Associate	★☆☆☆☆ Found in Text Mining only
Non-syndromic male infertility due to sperm motility disorder	Non-Syndromic Male Infertility Due To Sperm Motility Disorder	Orphanet			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33429787	Inhibit	★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	18776131, 20537283, 22801010, 29365104		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Sarcoma	Pubtator	34294833	Associate	★☆☆☆☆ Found in Text Mining only
SPERMATOGENIC FAILURE 27	Spermatogenic Failure	CLINVAR_DG	29365104		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPERMATOGENIC FAILURE 27	Spermatogenic Failure	UNIPROT_DG	29365104		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)