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

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
AK7-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	rs114610441, rs140034560, rs201546130, rs199616462, rs147444886, rs149831663, rs114521420, rs117684594, rs190353433, rs111363764	RCV003968662 RCV003913651 RCV003933443 RCV003911252 RCV003933555 RCV003943538 RCV003906316 RCV003943648 RCV003901321 RCV003951729
Familial cancer of breast	Likely benign	rs147444886	RCV005925901
Primary ciliary dyskinesia	Uncertain significance	rs587777029	RCV000054831
Spermatogenic failure 27	Uncertain significance; no classifications from unflagged records; Conflicting classifications of pathogenicity	rs756697933, rs116298211	RCV003990463 RCV000627039 RCV000755755

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Multiple	Associate	34854019, 38492416
Asthenozoospermia	Associate	38492416
Cardiomyopathy Dilated	Associate	36401332
Chromosome Deletion	Associate	32917334
Gastrointestinal Stromal Tumors	Associate	32736695
Genetic Diseases Inborn	Associate	32917334
Heart Failure	Associate	36401332
Infertility Male	Associate	38492416
Mitochondrial Diseases	Associate	38492416
Oligospermia	Associate	34854019, 38492416
Ovarian Neoplasms	Inhibit	33429787
Sarcoma	Associate	34294833
Varicocele	Associate	26732106