AK1 (adenylate kinase 1)

Gene

• Entrez ID: 203
• Gene name: Adenylate kinase 1
• Gene symbol: AK1
• Synonyms (NCBI Gene): ADK, Adk1, CNSHA3, HTL-S-58j
• Chromosome: 9
• Chromosome location: 9q34.11
• Summary: This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mut

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894101	G>A	Pathogenic	Coding sequence variant, missense variant
rs104894102	G>A	Pathogenic	Coding sequence variant, stop gained
rs137853203	T>C	Pathogenic	Coding sequence variant, missense variant
rs137853204	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs137853205	C>T	Pathogenic	Coding sequence variant, missense variant
rs387906582	GTC>-	Pathogenic	Inframe deletion, coding sequence variant
rs387906583	C>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051000	hsa-miR-17-5p	CLASH	23622248
MIRT039155	hsa-miR-769-5p	CLASH	23622248
MIRT673090	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT673089	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT673088	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT673087	hsa-miR-924	HITS-CLIP	23824327
MIRT673086	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT673085	hsa-miR-4294	HITS-CLIP	23824327
MIRT673084	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT673083	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT673082	hsa-miR-3672	HITS-CLIP	23824327
MIRT673081	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT673080	hsa-miR-5691	HITS-CLIP	23824327
MIRT673079	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT673078	hsa-miR-8055	HITS-CLIP	23824327
MIRT673077	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT673090	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT673089	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT673088	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT673087	hsa-miR-924	HITS-CLIP	23824327
MIRT673086	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT673085	hsa-miR-4294	HITS-CLIP	23824327
MIRT673084	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT673083	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT673082	hsa-miR-3672	HITS-CLIP	23824327
MIRT673081	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT673080	hsa-miR-5691	HITS-CLIP	23824327
MIRT673079	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT673078	hsa-miR-8055	HITS-CLIP	23824327
MIRT673077	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT774585	hsa-miR-1207-5p	CLIP-seq
MIRT774586	hsa-miR-122	CLIP-seq
MIRT774587	hsa-miR-1972	CLIP-seq
MIRT774588	hsa-miR-1976	CLIP-seq
MIRT774589	hsa-miR-214	CLIP-seq
MIRT774590	hsa-miR-24	CLIP-seq
MIRT774591	hsa-miR-296-5p	CLIP-seq
MIRT774592	hsa-miR-3135b	CLIP-seq
MIRT774593	hsa-miR-3181	CLIP-seq
MIRT774594	hsa-miR-3197	CLIP-seq
MIRT774595	hsa-miR-3612	CLIP-seq
MIRT774596	hsa-miR-3619-5p	CLIP-seq
MIRT774597	hsa-miR-3652	CLIP-seq
MIRT774598	hsa-miR-3944-3p	CLIP-seq
MIRT774599	hsa-miR-4279	CLIP-seq
MIRT774600	hsa-miR-4284	CLIP-seq
MIRT774601	hsa-miR-4317	CLIP-seq
MIRT774602	hsa-miR-4430	CLIP-seq
MIRT774603	hsa-miR-4436a	CLIP-seq
MIRT774604	hsa-miR-4436b-3p	CLIP-seq
MIRT774605	hsa-miR-4438	CLIP-seq
MIRT774606	hsa-miR-4443	CLIP-seq
MIRT774607	hsa-miR-4459	CLIP-seq
MIRT774608	hsa-miR-4646-5p	CLIP-seq
MIRT774609	hsa-miR-4650-5p	CLIP-seq
MIRT774610	hsa-miR-4722-3p	CLIP-seq
MIRT774611	hsa-miR-4750	CLIP-seq
MIRT774612	hsa-miR-4751	CLIP-seq
MIRT774613	hsa-miR-4763-3p	CLIP-seq
MIRT774614	hsa-miR-5095	CLIP-seq
MIRT774615	hsa-miR-650	CLIP-seq
MIRT774616	hsa-miR-665	CLIP-seq
MIRT774617	hsa-miR-761	CLIP-seq
MIRT774590	hsa-miR-24	CLIP-seq
MIRT774600	hsa-miR-4284	CLIP-seq
MIRT774601	hsa-miR-4317	CLIP-seq
MIRT1928632	hsa-miR-1207-3p	CLIP-seq
MIRT774586	hsa-miR-122	CLIP-seq
MIRT1928633	hsa-miR-1298	CLIP-seq
MIRT774588	hsa-miR-1976	CLIP-seq
MIRT774590	hsa-miR-24	CLIP-seq
MIRT774592	hsa-miR-3135b	CLIP-seq
MIRT1928634	hsa-miR-3167	CLIP-seq
MIRT774597	hsa-miR-3652	CLIP-seq
MIRT774599	hsa-miR-4279	CLIP-seq
MIRT774600	hsa-miR-4284	CLIP-seq
MIRT1928635	hsa-miR-431	CLIP-seq
MIRT774601	hsa-miR-4317	CLIP-seq
MIRT1928636	hsa-miR-4323	CLIP-seq
MIRT774602	hsa-miR-4430	CLIP-seq
MIRT1928637	hsa-miR-4473	CLIP-seq
MIRT1928638	hsa-miR-4532	CLIP-seq
MIRT774610	hsa-miR-4722-3p	CLIP-seq
MIRT1928639	hsa-miR-4731-5p	CLIP-seq
MIRT1928640	hsa-miR-512-3p	CLIP-seq
MIRT1928641	hsa-miR-520f	CLIP-seq
MIRT1928642	hsa-miR-570	CLIP-seq
MIRT1928643	hsa-miR-876-5p	CLIP-seq
MIRT2169404	hsa-miR-106a	CLIP-seq
MIRT2169405	hsa-miR-106b	CLIP-seq
MIRT774586	hsa-miR-122	CLIP-seq
MIRT2169406	hsa-miR-17	CLIP-seq
MIRT774588	hsa-miR-1976	CLIP-seq
MIRT2169407	hsa-miR-20a	CLIP-seq
MIRT2169408	hsa-miR-20b	CLIP-seq
MIRT2169409	hsa-miR-296-3p	CLIP-seq
MIRT774591	hsa-miR-296-5p	CLIP-seq
MIRT2169410	hsa-miR-302a	CLIP-seq
MIRT2169411	hsa-miR-302b	CLIP-seq
MIRT2169412	hsa-miR-302c	CLIP-seq
MIRT2169413	hsa-miR-302d	CLIP-seq
MIRT2169414	hsa-miR-302e	CLIP-seq
MIRT774592	hsa-miR-3135b	CLIP-seq
MIRT2169415	hsa-miR-3144-5p	CLIP-seq
MIRT2169416	hsa-miR-3184	CLIP-seq
MIRT2169417	hsa-miR-3191	CLIP-seq
MIRT774597	hsa-miR-3652	CLIP-seq
MIRT2169418	hsa-miR-372	CLIP-seq
MIRT2169419	hsa-miR-373	CLIP-seq
MIRT2169420	hsa-miR-423-5p	CLIP-seq
MIRT774599	hsa-miR-4279	CLIP-seq
MIRT774600	hsa-miR-4284	CLIP-seq
MIRT1928635	hsa-miR-431	CLIP-seq
MIRT774601	hsa-miR-4317	CLIP-seq
MIRT774602	hsa-miR-4430	CLIP-seq
MIRT774603	hsa-miR-4436a	CLIP-seq
MIRT774605	hsa-miR-4438	CLIP-seq
MIRT774607	hsa-miR-4459	CLIP-seq
MIRT2169421	hsa-miR-4492	CLIP-seq
MIRT2169422	hsa-miR-4498	CLIP-seq
MIRT2169423	hsa-miR-4505	CLIP-seq
MIRT1928638	hsa-miR-4532	CLIP-seq
MIRT2169424	hsa-miR-4651	CLIP-seq
MIRT2169425	hsa-miR-4652-5p	CLIP-seq
MIRT2169426	hsa-miR-4659a-5p	CLIP-seq
MIRT2169427	hsa-miR-4659b-5p	CLIP-seq
MIRT2169428	hsa-miR-4667-5p	CLIP-seq
MIRT2169429	hsa-miR-4700-5p	CLIP-seq
MIRT2169430	hsa-miR-4713-3p	CLIP-seq
MIRT2169431	hsa-miR-4716-5p	CLIP-seq
MIRT774610	hsa-miR-4722-3p	CLIP-seq
MIRT1928639	hsa-miR-4731-5p	CLIP-seq
MIRT774612	hsa-miR-4751	CLIP-seq
MIRT2169432	hsa-miR-4776-3p	CLIP-seq
MIRT2169433	hsa-miR-4781-3p	CLIP-seq
MIRT774614	hsa-miR-5095	CLIP-seq
MIRT1928640	hsa-miR-512-3p	CLIP-seq
MIRT2169434	hsa-miR-519d	CLIP-seq
MIRT2169435	hsa-miR-520a-3p	CLIP-seq
MIRT2169436	hsa-miR-520b	CLIP-seq
MIRT2169437	hsa-miR-520c-3p	CLIP-seq
MIRT2169438	hsa-miR-520d-3p	CLIP-seq
MIRT2169439	hsa-miR-520e	CLIP-seq
MIRT2169440	hsa-miR-520g	CLIP-seq
MIRT2169441	hsa-miR-520h	CLIP-seq
MIRT2169442	hsa-miR-608	CLIP-seq
MIRT774616	hsa-miR-665	CLIP-seq
MIRT2169443	hsa-miR-762	CLIP-seq
MIRT2169444	hsa-miR-93	CLIP-seq
MIRT774586	hsa-miR-122	CLIP-seq
MIRT2169409	hsa-miR-296-3p	CLIP-seq
MIRT774592	hsa-miR-3135b	CLIP-seq
MIRT2169415	hsa-miR-3144-5p	CLIP-seq
MIRT2169416	hsa-miR-3184	CLIP-seq
MIRT2169417	hsa-miR-3191	CLIP-seq
MIRT774597	hsa-miR-3652	CLIP-seq
MIRT2169420	hsa-miR-423-5p	CLIP-seq
MIRT774602	hsa-miR-4430	CLIP-seq
MIRT2169421	hsa-miR-4492	CLIP-seq
MIRT2169422	hsa-miR-4498	CLIP-seq
MIRT2169423	hsa-miR-4505	CLIP-seq
MIRT2169425	hsa-miR-4652-5p	CLIP-seq
MIRT2169428	hsa-miR-4667-5p	CLIP-seq
MIRT2169429	hsa-miR-4700-5p	CLIP-seq
MIRT774610	hsa-miR-4722-3p	CLIP-seq
MIRT1928639	hsa-miR-4731-5p	CLIP-seq
MIRT2169443	hsa-miR-762	CLIP-seq
MIRT2443398	hsa-miR-4269	CLIP-seq
MIRT774605	hsa-miR-4438	CLIP-seq
MIRT2443399	hsa-miR-4715-3p	CLIP-seq
MIRT2443400	hsa-miR-4735-5p	CLIP-seq
MIRT774614	hsa-miR-5095	CLIP-seq
MIRT2169404	hsa-miR-106a	CLIP-seq
MIRT2169405	hsa-miR-106b	CLIP-seq
MIRT1928632	hsa-miR-1207-3p	CLIP-seq
MIRT774586	hsa-miR-122	CLIP-seq
MIRT2471958	hsa-miR-1266	CLIP-seq
MIRT2471959	hsa-miR-1273f	CLIP-seq
MIRT2471960	hsa-miR-143	CLIP-seq
MIRT2169406	hsa-miR-17	CLIP-seq
MIRT2471961	hsa-miR-1914	CLIP-seq
MIRT774588	hsa-miR-1976	CLIP-seq
MIRT2169407	hsa-miR-20a	CLIP-seq
MIRT2169408	hsa-miR-20b	CLIP-seq
MIRT774590	hsa-miR-24	CLIP-seq
MIRT2169410	hsa-miR-302a	CLIP-seq
MIRT2169411	hsa-miR-302b	CLIP-seq
MIRT2169412	hsa-miR-302c	CLIP-seq
MIRT2169413	hsa-miR-302d	CLIP-seq
MIRT2169414	hsa-miR-302e	CLIP-seq
MIRT774592	hsa-miR-3135b	CLIP-seq
MIRT2471962	hsa-miR-3149	CLIP-seq
MIRT2471963	hsa-miR-3187-3p	CLIP-seq
MIRT2471964	hsa-miR-3200-3p	CLIP-seq
MIRT774597	hsa-miR-3652	CLIP-seq
MIRT2169418	hsa-miR-372	CLIP-seq
MIRT2169419	hsa-miR-373	CLIP-seq
MIRT2471965	hsa-miR-3936	CLIP-seq
MIRT2471966	hsa-miR-3942-3p	CLIP-seq
MIRT2471967	hsa-miR-3944-5p	CLIP-seq
MIRT2443398	hsa-miR-4269	CLIP-seq
MIRT774599	hsa-miR-4279	CLIP-seq
MIRT774600	hsa-miR-4284	CLIP-seq
MIRT2471968	hsa-miR-4286	CLIP-seq
MIRT774601	hsa-miR-4317	CLIP-seq
MIRT774602	hsa-miR-4430	CLIP-seq
MIRT2471969	hsa-miR-4435	CLIP-seq
MIRT774605	hsa-miR-4438	CLIP-seq
MIRT2471970	hsa-miR-4461	CLIP-seq
MIRT2471971	hsa-miR-4518	CLIP-seq
MIRT1928638	hsa-miR-4532	CLIP-seq
MIRT2471972	hsa-miR-455-3p	CLIP-seq
MIRT2471973	hsa-miR-4632	CLIP-seq
MIRT2471974	hsa-miR-4640-5p	CLIP-seq
MIRT2471975	hsa-miR-4645-5p	CLIP-seq
MIRT774608	hsa-miR-4646-5p	CLIP-seq
MIRT2169426	hsa-miR-4659a-5p	CLIP-seq
MIRT2169427	hsa-miR-4659b-5p	CLIP-seq
MIRT2471976	hsa-miR-4673	CLIP-seq
MIRT2471977	hsa-miR-4701-5p	CLIP-seq
MIRT2471978	hsa-miR-4707-5p	CLIP-seq
MIRT2471979	hsa-miR-4708-5p	CLIP-seq
MIRT2169430	hsa-miR-4713-3p	CLIP-seq
MIRT2443399	hsa-miR-4715-3p	CLIP-seq
MIRT2169431	hsa-miR-4716-5p	CLIP-seq
MIRT774610	hsa-miR-4722-3p	CLIP-seq
MIRT2471980	hsa-miR-4726-5p	CLIP-seq
MIRT1928639	hsa-miR-4731-5p	CLIP-seq
MIRT2443400	hsa-miR-4735-5p	CLIP-seq
MIRT2471981	hsa-miR-4755-3p	CLIP-seq
MIRT2471982	hsa-miR-4770	CLIP-seq
MIRT2471983	hsa-miR-4775	CLIP-seq
MIRT2169432	hsa-miR-4776-3p	CLIP-seq
MIRT2169433	hsa-miR-4781-3p	CLIP-seq
MIRT2471984	hsa-miR-4786-3p	CLIP-seq
MIRT774614	hsa-miR-5095	CLIP-seq
MIRT1928640	hsa-miR-512-3p	CLIP-seq
MIRT2169434	hsa-miR-519d	CLIP-seq
MIRT2169435	hsa-miR-520a-3p	CLIP-seq
MIRT2169436	hsa-miR-520b	CLIP-seq
MIRT2169437	hsa-miR-520c-3p	CLIP-seq
MIRT2169438	hsa-miR-520d-3p	CLIP-seq
MIRT2169439	hsa-miR-520e	CLIP-seq
MIRT2169440	hsa-miR-520g	CLIP-seq
MIRT2169441	hsa-miR-520h	CLIP-seq
MIRT2471985	hsa-miR-548s	CLIP-seq
MIRT2471986	hsa-miR-588	CLIP-seq
MIRT2471987	hsa-miR-590-3p	CLIP-seq
MIRT2471988	hsa-miR-591	CLIP-seq
MIRT2471989	hsa-miR-671-5p	CLIP-seq
MIRT2169444	hsa-miR-93	CLIP-seq
MIRT2471990	hsa-miR-938	CLIP-seq
MIRT2169404	hsa-miR-106a	CLIP-seq
MIRT2169405	hsa-miR-106b	CLIP-seq
MIRT1928632	hsa-miR-1207-3p	CLIP-seq
MIRT774586	hsa-miR-122	CLIP-seq
MIRT2471958	hsa-miR-1266	CLIP-seq
MIRT2471959	hsa-miR-1273f	CLIP-seq
MIRT2471960	hsa-miR-143	CLIP-seq
MIRT2169406	hsa-miR-17	CLIP-seq
MIRT2471961	hsa-miR-1914	CLIP-seq
MIRT774588	hsa-miR-1976	CLIP-seq
MIRT2169407	hsa-miR-20a	CLIP-seq
MIRT2169408	hsa-miR-20b	CLIP-seq
MIRT774590	hsa-miR-24	CLIP-seq
MIRT2169410	hsa-miR-302a	CLIP-seq
MIRT2169411	hsa-miR-302b	CLIP-seq
MIRT2169412	hsa-miR-302c	CLIP-seq
MIRT2169413	hsa-miR-302d	CLIP-seq
MIRT2169414	hsa-miR-302e	CLIP-seq
MIRT774592	hsa-miR-3135b	CLIP-seq
MIRT2471962	hsa-miR-3149	CLIP-seq
MIRT2471963	hsa-miR-3187-3p	CLIP-seq
MIRT2471964	hsa-miR-3200-3p	CLIP-seq
MIRT774597	hsa-miR-3652	CLIP-seq
MIRT2169418	hsa-miR-372	CLIP-seq
MIRT2169419	hsa-miR-373	CLIP-seq
MIRT2471965	hsa-miR-3936	CLIP-seq
MIRT2471966	hsa-miR-3942-3p	CLIP-seq
MIRT2471967	hsa-miR-3944-5p	CLIP-seq
MIRT2443398	hsa-miR-4269	CLIP-seq
MIRT774599	hsa-miR-4279	CLIP-seq
MIRT774600	hsa-miR-4284	CLIP-seq
MIRT2471968	hsa-miR-4286	CLIP-seq
MIRT774601	hsa-miR-4317	CLIP-seq
MIRT1928636	hsa-miR-4323	CLIP-seq
MIRT774602	hsa-miR-4430	CLIP-seq
MIRT2471969	hsa-miR-4435	CLIP-seq
MIRT774605	hsa-miR-4438	CLIP-seq
MIRT2471970	hsa-miR-4461	CLIP-seq
MIRT2471971	hsa-miR-4518	CLIP-seq
MIRT1928638	hsa-miR-4532	CLIP-seq
MIRT2471972	hsa-miR-455-3p	CLIP-seq
MIRT2471973	hsa-miR-4632	CLIP-seq
MIRT2471974	hsa-miR-4640-5p	CLIP-seq
MIRT2471975	hsa-miR-4645-5p	CLIP-seq
MIRT774608	hsa-miR-4646-5p	CLIP-seq
MIRT2169426	hsa-miR-4659a-5p	CLIP-seq
MIRT2169427	hsa-miR-4659b-5p	CLIP-seq
MIRT2471976	hsa-miR-4673	CLIP-seq
MIRT2471977	hsa-miR-4701-5p	CLIP-seq
MIRT2471978	hsa-miR-4707-5p	CLIP-seq
MIRT2471979	hsa-miR-4708-5p	CLIP-seq
MIRT2169430	hsa-miR-4713-3p	CLIP-seq
MIRT2443399	hsa-miR-4715-3p	CLIP-seq
MIRT2169431	hsa-miR-4716-5p	CLIP-seq
MIRT774610	hsa-miR-4722-3p	CLIP-seq
MIRT2471980	hsa-miR-4726-5p	CLIP-seq
MIRT1928639	hsa-miR-4731-5p	CLIP-seq
MIRT2443400	hsa-miR-4735-5p	CLIP-seq
MIRT2471981	hsa-miR-4755-3p	CLIP-seq
MIRT2674807	hsa-miR-4758-3p	CLIP-seq
MIRT2471982	hsa-miR-4770	CLIP-seq
MIRT2471983	hsa-miR-4775	CLIP-seq
MIRT2169432	hsa-miR-4776-3p	CLIP-seq
MIRT2169433	hsa-miR-4781-3p	CLIP-seq
MIRT2471984	hsa-miR-4786-3p	CLIP-seq
MIRT774614	hsa-miR-5095	CLIP-seq
MIRT1928640	hsa-miR-512-3p	CLIP-seq
MIRT2169434	hsa-miR-519d	CLIP-seq
MIRT2169435	hsa-miR-520a-3p	CLIP-seq
MIRT2169436	hsa-miR-520b	CLIP-seq
MIRT2169437	hsa-miR-520c-3p	CLIP-seq
MIRT2169438	hsa-miR-520d-3p	CLIP-seq
MIRT2169439	hsa-miR-520e	CLIP-seq
MIRT2169440	hsa-miR-520g	CLIP-seq
MIRT2169441	hsa-miR-520h	CLIP-seq
MIRT2471985	hsa-miR-548s	CLIP-seq
MIRT2471986	hsa-miR-588	CLIP-seq
MIRT2471987	hsa-miR-590-3p	CLIP-seq
MIRT2471988	hsa-miR-591	CLIP-seq
MIRT2471989	hsa-miR-671-5p	CLIP-seq
MIRT2169444	hsa-miR-93	CLIP-seq
MIRT2471990	hsa-miR-938	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001520	Component	Outer dense fiber	IEA
GO:0004017	Function	AMP kinase activity	EXP	211388, 2542324
GO:0004017	Function	AMP kinase activity	IBA
GO:0004017	Function	AMP kinase activity	IEA
GO:0004017	Function	AMP kinase activity	TAS	2542324
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	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006139	Process	Nucleobase-containing compound metabolic process	IEA
GO:0006172	Process	ADP biosynthetic process	IEA
GO:0009142	Process	Nucleoside triphosphate biosynthetic process	IEA
GO:0015949	Process	Nucleobase-containing small molecule interconversion	IEA
GO:0015949	Process	Nucleobase-containing small molecule interconversion	TAS
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019205	Function	Nucleobase-containing compound kinase activity	IEA
GO:0036126	Component	Sperm flagellum	IEA
GO:0046033	Process	AMP metabolic process	IEA
GO:0046034	Process	ATP metabolic process	IEA
GO:0046940	Process	Nucleoside monophosphate phosphorylation	IEA
GO:0047506	Function	DAMP kinase activity	IEA
GO:0050145	Function	Nucleoside monophosphate kinase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867

Other IDs

• MIM: 103000
• HGNC: 361
• e!Ensembl: ENSG00000106992

Protein

• UniProt ID: P00568
• Protein name: Adenylate kinase isoenzyme 1 (AK 1) (EC 2.7.4.3) (EC 2.7.4.4) (EC 2.7.4.6) (ATP-AMP transphosphorylase 1) (ATP:AMP phosphotransferase) (Adenylate monophosphate kinase) (Myokinase)
• Protein function: Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism (By si
• PDB: 1Z83, 2C95, 7DE3, 7X7S, 8X1G
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00406	ADK	13 → 169		Domain

• Sequence:

  MEEKLKKTKIIFVVGGPGSGKGTQCEKIVQKYGYTHLSTGDLLRSEVSSGSARGKKLSEI
  MEKGQLVPLETVLDMLRDAMVAKVNTSKGFLIDGYPREVQQGEEFERRIGQPTLLLYVDA
  GPETMTQRLLKRGETSGRVDDNEETIKKRLETYYKATEPVIAFYEKRGIVRKVNAEGSVD
  SVFSQVCTHLDALK

• Sequence length: 194

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Adenylate kinase deficiency	Pathogenic	rs2131401746	RCV001526690	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemolytic anemia due to adenylate kinase deficiency	Pathogenic; Likely pathogenic	rs2131401746, rs104894101, rs104894102, rs137853203, rs137853204, rs137853205, rs387906582, rs387906583	RCV001506969 RCV000019925 RCV000019926 RCV000019927 RCV000019928 RCV000019929 RCV000019930 RCV000019931	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatocellular carcinoma	Pathogenic	rs137853203	RCV005887577	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AK1-related condition	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 3	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Actinic keratosis	Actinic keratosis	BEFREE	28796914, 30887613, 30972880		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	23937241		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31444368		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	23937241		★☆☆☆☆ Found in Text Mining only
Adenoma, Basal Cell	Adenoma	BEFREE	23937241		★☆☆☆☆ Found in Text Mining only
Adenosine deaminase deficiency	Adenosine Deaminase Deficiency	BEFREE	24972650		★☆☆☆☆ Found in Text Mining only
Adenylate Kinase Deficiency Hemolytic Anemia Due To	Hemolytic anemia	Pubtator	10233365, 17662886, 2542324, 34321014, 9432020	Associate	★☆☆☆☆ Found in Text Mining only
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Adenylate Kinase Deficiency, Hemolytic Anemia	ORPHANET_DG	10233365, 9432020		★☆☆☆☆ Found in Text Mining only
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Adenylate Kinase Deficiency, Hemolytic Anemia	UNIPROT_DG	12649162, 2542324, 9432020		★☆☆☆☆ Found in Text Mining only
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Adenylate Kinase Deficiency, Hemolytic Anemia	GENOMICS_ENGLAND_DG	28211224		★☆☆☆☆ Found in Text Mining only
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Adenylate Kinase Deficiency, Hemolytic Anemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Adenylate Kinase Deficiency, Hemolytic Anemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	23937241		★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	10233365, 17662886, 35509045, 9432020	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Congenital Nonspherocytic	Hemolytic anemia	Pubtator	34321014	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aphakia, congenital primary	Congenital primary aphakia	BEFREE	27975140		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	23937241		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29038540, 30571174		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	22092111	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	29308612		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29038540, 30571174		★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	26040919	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	22092111	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20543960	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	30198869	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic hemolytic anemia	Hemolytic anemia	BEFREE	10233365		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18600536		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18600536		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35285580	Associate	★☆☆☆☆ Found in Text Mining only
Combined molybdoflavoprotein enzyme deficiency	Combined molybdoflavoprotein enzyme deficiency	BEFREE	24972650		★☆☆☆☆ Found in Text Mining only
Cryoglobulinemia	Cryoglobulinemia	BEFREE	25661337		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	30477030		★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	1867195	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	24128682, 31353670	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	18249058, 21275977, 22700220, 26329539, 29126171, 30815855, 31633474, 31779529		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	22092111, 24128682, 26329539, 29126171, 34479194	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	22700220		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	33794814	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26329539		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26329539	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30477030		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemolytic anemia due to adenylate kinase deficiency	Hemolytic Anemia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatic methionine adenosyltransferase deficiency	Hepatic Methionine Adenosyltransferase Deficiency	BEFREE	21963049, 30771478		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	21556322	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31044530		★☆☆☆☆ Found in Text Mining only
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY	Hypermethioninemia	CTD_human_DG	21963049		★☆☆☆☆ Found in Text Mining only
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY	Hypermethioninemia	UNIPROT_DG	21963049		★☆☆☆☆ Found in Text Mining only
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY	Hypermethioninemia	ORPHANET_DG	21963049		★☆☆☆☆ Found in Text Mining only
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY	Hypermethioninemia	GENOMICS_ENGLAND_DG	26642971		★☆☆☆☆ Found in Text Mining only
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY	Hypermethioninemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypermethioninemia encephalopathy due to adenosine kinase deficiency	Hypermethioninemia Encephalopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	GWASCAT_DG	25108383		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28698714		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	35578687	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30995110		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	30910669		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	2546621	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32519744	Associate	★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	26332308		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31444368	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Lymphocytic, Intermediate	Lymphoma, Lymphocytic, Intermediate	CTD_human_DG	23676220		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	11223861		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	CTD_human_DG	23676220		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18600536, 28504647		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	31189131		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28504647		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	6286097		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nail-Patella Syndrome	Nail-Patella Syndrome	BEFREE	176661, 9781042		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12817886, 30755485		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30755485		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	30755485	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	26332308		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	30927276	Associate	★☆☆☆☆ Found in Text Mining only
Papilloma Choroid Plexus	Choroid plexus papilloma	Pubtator	31409384	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	29126171	Associate	★☆☆☆☆ Found in Text Mining only
Phosphoribosylpyrophosphate Synthetase Superactivity	Phosphoribosylpyrophosphate Synthetase Superactivity	BEFREE	24972650		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	35509045	Associate	★☆☆☆☆ Found in Text Mining only
Rasmussen Syndrome	Rasmussen`s Syndrome	BEFREE	28789481, 31353670		★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	22092111	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19165527		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	PSYGENET_DG	22706302		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29126171		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	29126171	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	22092111, 26040919, 34479194, 38166692	Associate	★☆☆☆☆ Found in Text Mining only
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency disease	BEFREE	24972650		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	30771478		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	17716659, 24001064		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only