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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	122481
Gene name Gene Name - the full gene name approved by the HGNC.	Adenylate kinase 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AK7
Synonyms (NCBI Gene) Gene synonyms aliases	AK 7, CFAP75, FAP75, SPGF27
Disease Acronyms (UniProt) Disease acronyms from UniProt database	SPGF27
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q32.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(1)

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

Show/Hide all(33)

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

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004017	Function	Adenylate kinase activity	IBA	21873635
GO:0004017	Function	Adenylate kinase activity	IDA	21080915
GO:0004127	Function	Cytidylate kinase activity	IBA	21873635
GO:0004127	Function	Cytidylate kinase activity	IDA	21080915
GO:0004550	Function	Nucleoside diphosphate kinase activity	IBA	21873635
GO:0004550	Function	Nucleoside diphosphate kinase activity	IDA	23416111
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006165	Process	Nucleoside diphosphate phosphorylation	IBA	21873635
GO:0006165	Process	Nucleoside diphosphate phosphorylation	IDA	23416111
GO:0009142	Process	Nucleoside triphosphate biosynthetic process	IBA	21873635
GO:0009142	Process	Nucleoside triphosphate biosynthetic process	IDA	23416111
GO:0015949	Process	Nucleobase-containing small molecule interconversion	TAS
GO:0030030	Process	Cell projection organization	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0046940	Process	Nucleoside monophosphate phosphorylation	IEA

MIM	HGNC	e!Ensembl
615364	20091	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

Interactions

View interactions

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

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Non-syndromic male infertility due to sperm motility disorder	Non-syndromic male infertility due to sperm motility disorder	rs753307279
Spermatogenic failure	SPERMATOGENIC FAILURE 27	rs193929390, rs193929391, rs587776620, rs769825641, rs80034486, rs778145751, rs387906690, rs201095702, rs312262776, rs140210148, rs142371860, rs538539239, rs147579680, rs587777205, rs751879424 View all (104 more)	29365104

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Non-Syndromic Male Infertility Due To Sperm Motility Disorder	non-syndromic male infertility due to sperm motility disorder	GenCC
Ciliary dyskinesia	primary ciliary dyskinesia	GenCC

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining
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

AK7 (adenylate kinase 7)