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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	203
Gene name	Adenylate kinase 1
Gene symbol	AK1
Synonyms (NCBI Gene)	ADKAdk1CNSHA3HTL-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

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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

334

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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

Show/Hide all (28)

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

MIM	HGNC	e!Ensembl
103000	361	ENSG00000106992

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

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Adenylate kinase deficiency	Pathogenic	rs2131401746	RCV001526690
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
Hepatocellular carcinoma	Pathogenic	rs137853203	RCV005887577

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
AK1-related condition	Benign; Likely benign	rs61741083	RCV004758895

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	31444368
Adenylate Kinase Deficiency Hemolytic Anemia Due To	Associate	10233365, 17662886, 2542324, 34321014, 9432020
Anemia Hemolytic	Associate	10233365, 17662886, 35509045, 9432020
Anemia Hemolytic Congenital Nonspherocytic	Associate	34321014
Breast Neoplasms	Associate	20543960
Carcinoma Renal Cell	Associate	30198869
Colorectal Neoplasms	Associate	35285580
Dystonia	Associate	1867195
Esophageal Neoplasms	Associate	33794814
Fibrosis	Associate	37462883
Hyperglycemia	Inhibit	21556322
Immunologic Deficiency Syndromes	Associate	35509045
Intervertebral Disc Degeneration	Associate	35578687
Leukemia	Inhibit	2546621
Leukemia Myeloid Acute	Associate	32519744
Lung Neoplasms	Associate	31444368
Nail Patella Syndrome	Associate	176661, 8981956
Neoplasms	Associate	2546621
Papilloma Choroid Plexus	Associate	31409384
Psychomotor Disorders	Associate	35509045
Pyruvate Kinase Deficiency of Red Cells	Associate	35509045
Seizures	Associate	38166692

AK1 (adenylate kinase 1)