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	10367
Gene name	Mitochondrial calcium uptake 1
Gene symbol	MICU1
Synonyms (NCBI Gene)	CALCCBARA1EFHA3MPXPSara CALC
Chromosome	10
Chromosome location	10q22.1
Summary	This gene encodes an essential regulator of mitochondrial Ca2+ uptake under basal conditions. The encoded protein interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2+ channel, and is essential in preventing mitochondrial

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SNP ID	Visualize variation	Clinical significance	Consequence
rs369915689	C>T	Pathogenic	Splice donor variant
rs375664373	C>A,G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs538329212	G>A,C,T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant, stop gained, missense variant
rs749124658	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs754639936	C>G,T	Pathogenic	Splice acceptor variant
rs777327250	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant
rs868338421	TG>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant, 5 prime UTR variant
rs1135401814	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1554882874	A>C	Likely-pathogenic	Intron variant, splice donor variant

335

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miRTarBase ID	miRNA	Experiments	Reference
MIRT037375	hsa-miR-877-5p	CLASH	23622248
MIRT1148407	hsa-miR-15a	CLIP-seq
MIRT1148408	hsa-miR-15b	CLIP-seq
MIRT1148409	hsa-miR-16	CLIP-seq
MIRT1148410	hsa-miR-195	CLIP-seq
MIRT1148411	hsa-miR-2278	CLIP-seq
MIRT1148412	hsa-miR-3179	CLIP-seq
MIRT1148413	hsa-miR-3180-5p	CLIP-seq
MIRT1148414	hsa-miR-3194-3p	CLIP-seq
MIRT1148415	hsa-miR-3202	CLIP-seq
MIRT1148416	hsa-miR-3667-3p	CLIP-seq
MIRT1148417	hsa-miR-384	CLIP-seq
MIRT1148418	hsa-miR-424	CLIP-seq
MIRT1148419	hsa-miR-4297	CLIP-seq
MIRT1148420	hsa-miR-4476	CLIP-seq
MIRT1148421	hsa-miR-4532	CLIP-seq
MIRT1148422	hsa-miR-4652-5p	CLIP-seq
MIRT1148423	hsa-miR-4716-3p	CLIP-seq
MIRT1148424	hsa-miR-497	CLIP-seq
MIRT1148425	hsa-miR-520a-5p	CLIP-seq
MIRT1148426	hsa-miR-525-5p	CLIP-seq
MIRT1148427	hsa-miR-760	CLIP-seq
MIRT1148428	hsa-miR-1178	CLIP-seq
MIRT1148429	hsa-miR-137	CLIP-seq
MIRT1148430	hsa-miR-208a	CLIP-seq
MIRT1148431	hsa-miR-208b	CLIP-seq
MIRT1148432	hsa-miR-3145-3p	CLIP-seq
MIRT1148433	hsa-miR-3155	CLIP-seq
MIRT1148434	hsa-miR-3155b	CLIP-seq
MIRT1148435	hsa-miR-34b	CLIP-seq
MIRT1148436	hsa-miR-34c-3p	CLIP-seq
MIRT1148437	hsa-miR-3616-3p	CLIP-seq
MIRT1148438	hsa-miR-3617	CLIP-seq
MIRT1148439	hsa-miR-3658	CLIP-seq
MIRT1148440	hsa-miR-3689a-5p	CLIP-seq
MIRT1148441	hsa-miR-3689b	CLIP-seq
MIRT1148442	hsa-miR-3689e	CLIP-seq
MIRT1148443	hsa-miR-3689f	CLIP-seq
MIRT1148444	hsa-miR-3921	CLIP-seq
MIRT1148445	hsa-miR-4303	CLIP-seq
MIRT1148446	hsa-miR-4438	CLIP-seq
MIRT1148447	hsa-miR-4470	CLIP-seq
MIRT1148448	hsa-miR-4650-5p	CLIP-seq
MIRT1148449	hsa-miR-4651	CLIP-seq
MIRT1148450	hsa-miR-4653-5p	CLIP-seq
MIRT1148451	hsa-miR-4685-5p	CLIP-seq
MIRT1148452	hsa-miR-4699-3p	CLIP-seq
MIRT1148453	hsa-miR-4705	CLIP-seq
MIRT1148454	hsa-miR-4755-3p	CLIP-seq
MIRT1148455	hsa-miR-484	CLIP-seq
MIRT1148456	hsa-miR-499-5p	CLIP-seq
MIRT1148457	hsa-miR-608	CLIP-seq
MIRT1148458	hsa-miR-615-5p	CLIP-seq
MIRT1148459	hsa-miR-637	CLIP-seq
MIRT1148460	hsa-miR-641	CLIP-seq
MIRT1148427	hsa-miR-760	CLIP-seq
MIRT1148415	hsa-miR-3202	CLIP-seq
MIRT1148428	hsa-miR-1178	CLIP-seq
MIRT2042226	hsa-miR-1267	CLIP-seq
MIRT2042227	hsa-miR-1304	CLIP-seq
MIRT1148429	hsa-miR-137	CLIP-seq
MIRT1148411	hsa-miR-2278	CLIP-seq
MIRT2042228	hsa-miR-2467-5p	CLIP-seq
MIRT1148413	hsa-miR-3180-5p	CLIP-seq
MIRT2042229	hsa-miR-3188	CLIP-seq
MIRT1148414	hsa-miR-3194-3p	CLIP-seq
MIRT1148416	hsa-miR-3667-3p	CLIP-seq
MIRT1148417	hsa-miR-384	CLIP-seq
MIRT2042230	hsa-miR-3929	CLIP-seq
MIRT2042231	hsa-miR-3975	CLIP-seq
MIRT1148419	hsa-miR-4297	CLIP-seq
MIRT2042232	hsa-miR-4419b	CLIP-seq
MIRT2042233	hsa-miR-4478	CLIP-seq
MIRT2042234	hsa-miR-4522	CLIP-seq
MIRT1148448	hsa-miR-4650-5p	CLIP-seq
MIRT1148451	hsa-miR-4685-5p	CLIP-seq
MIRT2042235	hsa-miR-4734	CLIP-seq
MIRT2042236	hsa-miR-4793-5p	CLIP-seq
MIRT2042237	hsa-miR-485-5p	CLIP-seq
MIRT1148425	hsa-miR-520a-5p	CLIP-seq
MIRT1148426	hsa-miR-525-5p	CLIP-seq
MIRT2042238	hsa-miR-606	CLIP-seq
MIRT1148458	hsa-miR-615-5p	CLIP-seq
MIRT2042239	hsa-miR-658	CLIP-seq
MIRT1148427	hsa-miR-760	CLIP-seq
MIRT1148428	hsa-miR-1178	CLIP-seq
MIRT2271910	hsa-miR-1276	CLIP-seq
MIRT2271911	hsa-miR-1289	CLIP-seq
MIRT2271912	hsa-miR-1321	CLIP-seq
MIRT1148429	hsa-miR-137	CLIP-seq
MIRT1148407	hsa-miR-15a	CLIP-seq
MIRT1148408	hsa-miR-15b	CLIP-seq
MIRT1148409	hsa-miR-16	CLIP-seq
MIRT1148410	hsa-miR-195	CLIP-seq
MIRT2271913	hsa-miR-3162-5p	CLIP-seq
MIRT1148412	hsa-miR-3179	CLIP-seq
MIRT1148413	hsa-miR-3180-5p	CLIP-seq
MIRT2271914	hsa-miR-3191	CLIP-seq
MIRT2271915	hsa-miR-3198	CLIP-seq
MIRT1148415	hsa-miR-3202	CLIP-seq
MIRT1148435	hsa-miR-34b	CLIP-seq
MIRT1148436	hsa-miR-34c-3p	CLIP-seq
MIRT1148418	hsa-miR-424	CLIP-seq
MIRT2271916	hsa-miR-4271	CLIP-seq
MIRT2271917	hsa-miR-4289	CLIP-seq
MIRT2271918	hsa-miR-4294	CLIP-seq
MIRT2271919	hsa-miR-4309	CLIP-seq
MIRT2271920	hsa-miR-4311	CLIP-seq
MIRT1148420	hsa-miR-4476	CLIP-seq
MIRT1148422	hsa-miR-4652-5p	CLIP-seq
MIRT1148423	hsa-miR-4716-3p	CLIP-seq
MIRT2271921	hsa-miR-4722-3p	CLIP-seq
MIRT2271922	hsa-miR-4725-3p	CLIP-seq
MIRT2271923	hsa-miR-4727-5p	CLIP-seq
MIRT2271924	hsa-miR-4737	CLIP-seq
MIRT2271925	hsa-miR-4739	CLIP-seq
MIRT2271926	hsa-miR-4747-5p	CLIP-seq
MIRT2271927	hsa-miR-4756-5p	CLIP-seq
MIRT2271928	hsa-miR-4763-5p	CLIP-seq
MIRT2042237	hsa-miR-485-5p	CLIP-seq
MIRT1148424	hsa-miR-497	CLIP-seq
MIRT2271929	hsa-miR-499a-5p	CLIP-seq
MIRT1148425	hsa-miR-520a-5p	CLIP-seq
MIRT1148426	hsa-miR-525-5p	CLIP-seq
MIRT2271930	hsa-miR-544	CLIP-seq
MIRT2271931	hsa-miR-583	CLIP-seq
MIRT2271932	hsa-miR-604	CLIP-seq
MIRT2454139	hsa-miR-1245b-5p	CLIP-seq
MIRT2454140	hsa-miR-1915	CLIP-seq
MIRT2454141	hsa-miR-3142	CLIP-seq
MIRT2454142	hsa-miR-432	CLIP-seq
MIRT1148448	hsa-miR-4650-5p	CLIP-seq
MIRT2454143	hsa-miR-4726-3p	CLIP-seq
MIRT2271924	hsa-miR-4737	CLIP-seq
MIRT2271932	hsa-miR-604	CLIP-seq
MIRT2570775	hsa-miR-1	CLIP-seq
MIRT1148428	hsa-miR-1178	CLIP-seq
MIRT2570776	hsa-miR-1200	CLIP-seq
MIRT2570777	hsa-miR-1206	CLIP-seq
MIRT2570778	hsa-miR-1226	CLIP-seq
MIRT2570779	hsa-miR-1229	CLIP-seq
MIRT2271910	hsa-miR-1276	CLIP-seq
MIRT2570780	hsa-miR-1343	CLIP-seq
MIRT1148429	hsa-miR-137	CLIP-seq
MIRT2570781	hsa-miR-146a	CLIP-seq
MIRT2570782	hsa-miR-146b-5p	CLIP-seq
MIRT1148407	hsa-miR-15a	CLIP-seq
MIRT1148408	hsa-miR-15b	CLIP-seq
MIRT1148409	hsa-miR-16	CLIP-seq
MIRT2570783	hsa-miR-1909	CLIP-seq
MIRT1148410	hsa-miR-195	CLIP-seq
MIRT2570784	hsa-miR-206	CLIP-seq
MIRT2570785	hsa-miR-2116	CLIP-seq
MIRT2570786	hsa-miR-214	CLIP-seq
MIRT2570787	hsa-miR-3119	CLIP-seq
MIRT2570788	hsa-miR-3135	CLIP-seq
MIRT2570789	hsa-miR-3162-3p	CLIP-seq
MIRT1148412	hsa-miR-3179	CLIP-seq
MIRT2570790	hsa-miR-3180	CLIP-seq
MIRT2570791	hsa-miR-3180-3p	CLIP-seq
MIRT1148413	hsa-miR-3180-5p	CLIP-seq
MIRT2271914	hsa-miR-3191	CLIP-seq
MIRT1148414	hsa-miR-3194-3p	CLIP-seq
MIRT2570792	hsa-miR-3196	CLIP-seq
MIRT1148415	hsa-miR-3202	CLIP-seq
MIRT2570793	hsa-miR-342-3p	CLIP-seq
MIRT1148435	hsa-miR-34b	CLIP-seq
MIRT1148436	hsa-miR-34c-3p	CLIP-seq
MIRT2570794	hsa-miR-3591-3p	CLIP-seq
MIRT2570795	hsa-miR-3619-5p	CLIP-seq
MIRT1148416	hsa-miR-3667-3p	CLIP-seq
MIRT2570796	hsa-miR-3670	CLIP-seq
MIRT2570797	hsa-miR-3675-5p	CLIP-seq
MIRT1148418	hsa-miR-424	CLIP-seq
MIRT2271916	hsa-miR-4271	CLIP-seq
MIRT2271917	hsa-miR-4289	CLIP-seq
MIRT1148445	hsa-miR-4303	CLIP-seq
MIRT2570798	hsa-miR-4307	CLIP-seq
MIRT2271920	hsa-miR-4311	CLIP-seq
MIRT2570799	hsa-miR-4324	CLIP-seq
MIRT2570800	hsa-miR-4450	CLIP-seq
MIRT2570801	hsa-miR-4459	CLIP-seq
MIRT2570802	hsa-miR-4474-3p	CLIP-seq
MIRT1148420	hsa-miR-4476	CLIP-seq
MIRT2042234	hsa-miR-4522	CLIP-seq
MIRT2570803	hsa-miR-4530	CLIP-seq
MIRT1148421	hsa-miR-4532	CLIP-seq
MIRT1148449	hsa-miR-4651	CLIP-seq
MIRT1148422	hsa-miR-4652-5p	CLIP-seq
MIRT2570804	hsa-miR-4677-5p	CLIP-seq
MIRT1148451	hsa-miR-4685-5p	CLIP-seq
MIRT2570805	hsa-miR-4704-5p	CLIP-seq
MIRT1148453	hsa-miR-4705	CLIP-seq
MIRT1148423	hsa-miR-4716-3p	CLIP-seq
MIRT2271921	hsa-miR-4722-3p	CLIP-seq
MIRT2570806	hsa-miR-4722-5p	CLIP-seq
MIRT2271922	hsa-miR-4725-3p	CLIP-seq
MIRT2271923	hsa-miR-4727-5p	CLIP-seq
MIRT2042235	hsa-miR-4734	CLIP-seq
MIRT2271924	hsa-miR-4737	CLIP-seq
MIRT2271926	hsa-miR-4747-5p	CLIP-seq
MIRT2271928	hsa-miR-4763-5p	CLIP-seq
MIRT2570807	hsa-miR-4779	CLIP-seq
MIRT2042236	hsa-miR-4793-5p	CLIP-seq
MIRT2570808	hsa-miR-4797-5p	CLIP-seq
MIRT1148424	hsa-miR-497	CLIP-seq
MIRT2271929	hsa-miR-499a-5p	CLIP-seq
MIRT1148425	hsa-miR-520a-5p	CLIP-seq
MIRT1148426	hsa-miR-525-5p	CLIP-seq
MIRT2271930	hsa-miR-544	CLIP-seq
MIRT2570809	hsa-miR-544b	CLIP-seq
MIRT2570810	hsa-miR-548p	CLIP-seq
MIRT2570811	hsa-miR-556-5p	CLIP-seq
MIRT2570812	hsa-miR-578	CLIP-seq
MIRT2570813	hsa-miR-580	CLIP-seq
MIRT2271931	hsa-miR-583	CLIP-seq
MIRT2570814	hsa-miR-589	CLIP-seq
MIRT2570815	hsa-miR-602	CLIP-seq
MIRT2271932	hsa-miR-604	CLIP-seq
MIRT2570816	hsa-miR-605	CLIP-seq
MIRT1148457	hsa-miR-608	CLIP-seq
MIRT2570817	hsa-miR-613	CLIP-seq
MIRT1148458	hsa-miR-615-5p	CLIP-seq
MIRT2570818	hsa-miR-634	CLIP-seq
MIRT1148459	hsa-miR-637	CLIP-seq
MIRT2570819	hsa-miR-654-3p	CLIP-seq
MIRT2042239	hsa-miR-658	CLIP-seq
MIRT1148427	hsa-miR-760	CLIP-seq
MIRT2570820	hsa-miR-761	CLIP-seq
MIRT2570821	hsa-miR-922	CLIP-seq
MIRT2570775	hsa-miR-1	CLIP-seq
MIRT1148428	hsa-miR-1178	CLIP-seq
MIRT2570776	hsa-miR-1200	CLIP-seq
MIRT2570777	hsa-miR-1206	CLIP-seq
MIRT2570778	hsa-miR-1226	CLIP-seq
MIRT2570779	hsa-miR-1229	CLIP-seq
MIRT2271910	hsa-miR-1276	CLIP-seq
MIRT2271911	hsa-miR-1289	CLIP-seq
MIRT2271912	hsa-miR-1321	CLIP-seq
MIRT2570780	hsa-miR-1343	CLIP-seq
MIRT1148429	hsa-miR-137	CLIP-seq
MIRT2570781	hsa-miR-146a	CLIP-seq
MIRT2570782	hsa-miR-146b-5p	CLIP-seq
MIRT1148407	hsa-miR-15a	CLIP-seq
MIRT1148408	hsa-miR-15b	CLIP-seq
MIRT1148409	hsa-miR-16	CLIP-seq
MIRT2570783	hsa-miR-1909	CLIP-seq
MIRT1148410	hsa-miR-195	CLIP-seq
MIRT2570784	hsa-miR-206	CLIP-seq
MIRT2570785	hsa-miR-2116	CLIP-seq
MIRT2570786	hsa-miR-214	CLIP-seq
MIRT2570787	hsa-miR-3119	CLIP-seq
MIRT2570788	hsa-miR-3135	CLIP-seq
MIRT2570789	hsa-miR-3162-3p	CLIP-seq
MIRT2271913	hsa-miR-3162-5p	CLIP-seq
MIRT1148412	hsa-miR-3179	CLIP-seq
MIRT2570790	hsa-miR-3180	CLIP-seq
MIRT2570791	hsa-miR-3180-3p	CLIP-seq
MIRT1148413	hsa-miR-3180-5p	CLIP-seq
MIRT2271914	hsa-miR-3191	CLIP-seq
MIRT1148414	hsa-miR-3194-3p	CLIP-seq
MIRT2570792	hsa-miR-3196	CLIP-seq
MIRT2271915	hsa-miR-3198	CLIP-seq
MIRT1148415	hsa-miR-3202	CLIP-seq
MIRT2570793	hsa-miR-342-3p	CLIP-seq
MIRT1148435	hsa-miR-34b	CLIP-seq
MIRT1148436	hsa-miR-34c-3p	CLIP-seq
MIRT2570794	hsa-miR-3591-3p	CLIP-seq
MIRT2570795	hsa-miR-3619-5p	CLIP-seq
MIRT1148416	hsa-miR-3667-3p	CLIP-seq
MIRT2570796	hsa-miR-3670	CLIP-seq
MIRT2570797	hsa-miR-3675-5p	CLIP-seq
MIRT1148418	hsa-miR-424	CLIP-seq
MIRT2271916	hsa-miR-4271	CLIP-seq
MIRT2271917	hsa-miR-4289	CLIP-seq
MIRT2271918	hsa-miR-4294	CLIP-seq
MIRT1148445	hsa-miR-4303	CLIP-seq
MIRT2570798	hsa-miR-4307	CLIP-seq
MIRT2271919	hsa-miR-4309	CLIP-seq
MIRT2271920	hsa-miR-4311	CLIP-seq
MIRT2570799	hsa-miR-4324	CLIP-seq
MIRT2570800	hsa-miR-4450	CLIP-seq
MIRT2570801	hsa-miR-4459	CLIP-seq
MIRT2570802	hsa-miR-4474-3p	CLIP-seq
MIRT1148420	hsa-miR-4476	CLIP-seq
MIRT2042234	hsa-miR-4522	CLIP-seq
MIRT2570803	hsa-miR-4530	CLIP-seq
MIRT1148421	hsa-miR-4532	CLIP-seq
MIRT1148449	hsa-miR-4651	CLIP-seq
MIRT1148422	hsa-miR-4652-5p	CLIP-seq
MIRT2570804	hsa-miR-4677-5p	CLIP-seq
MIRT1148451	hsa-miR-4685-5p	CLIP-seq
MIRT2570805	hsa-miR-4704-5p	CLIP-seq
MIRT1148453	hsa-miR-4705	CLIP-seq
MIRT1148423	hsa-miR-4716-3p	CLIP-seq
MIRT2271921	hsa-miR-4722-3p	CLIP-seq
MIRT2570806	hsa-miR-4722-5p	CLIP-seq
MIRT2271922	hsa-miR-4725-3p	CLIP-seq
MIRT2271923	hsa-miR-4727-5p	CLIP-seq
MIRT2042235	hsa-miR-4734	CLIP-seq
MIRT2271924	hsa-miR-4737	CLIP-seq
MIRT2271925	hsa-miR-4739	CLIP-seq
MIRT2271926	hsa-miR-4747-5p	CLIP-seq
MIRT2271927	hsa-miR-4756-5p	CLIP-seq
MIRT2271928	hsa-miR-4763-5p	CLIP-seq
MIRT2570807	hsa-miR-4779	CLIP-seq
MIRT2042236	hsa-miR-4793-5p	CLIP-seq
MIRT2570808	hsa-miR-4797-5p	CLIP-seq
MIRT2042237	hsa-miR-485-5p	CLIP-seq
MIRT1148424	hsa-miR-497	CLIP-seq
MIRT2271929	hsa-miR-499a-5p	CLIP-seq
MIRT1148425	hsa-miR-520a-5p	CLIP-seq
MIRT1148426	hsa-miR-525-5p	CLIP-seq
MIRT2271930	hsa-miR-544	CLIP-seq
MIRT2570809	hsa-miR-544b	CLIP-seq
MIRT2570810	hsa-miR-548p	CLIP-seq
MIRT2570811	hsa-miR-556-5p	CLIP-seq
MIRT2570812	hsa-miR-578	CLIP-seq
MIRT2570813	hsa-miR-580	CLIP-seq
MIRT2271931	hsa-miR-583	CLIP-seq
MIRT2570814	hsa-miR-589	CLIP-seq
MIRT2570815	hsa-miR-602	CLIP-seq
MIRT2271932	hsa-miR-604	CLIP-seq
MIRT2570816	hsa-miR-605	CLIP-seq
MIRT2042238	hsa-miR-606	CLIP-seq
MIRT1148457	hsa-miR-608	CLIP-seq
MIRT2570817	hsa-miR-613	CLIP-seq
MIRT1148458	hsa-miR-615-5p	CLIP-seq
MIRT2570818	hsa-miR-634	CLIP-seq
MIRT1148459	hsa-miR-637	CLIP-seq
MIRT2570819	hsa-miR-654-3p	CLIP-seq
MIRT2042239	hsa-miR-658	CLIP-seq
MIRT1148427	hsa-miR-760	CLIP-seq
MIRT2570820	hsa-miR-761	CLIP-seq
MIRT2570821	hsa-miR-922	CLIP-seq

Show/Hide all (68)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005246	Function	Calcium channel regulator activity	IDA	32494073
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	23101630, 24514027
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	TAS	26975899
GO:0005515	Function	Protein binding	IPI	21685886, 23101630, 23178883, 24430870, 24560927, 26387864, 27099988, 27642082, 30454562, 30638448, 32494073, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	27642082
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005739	Component	Mitochondrion	TAS	26975899
GO:0005743	Component	Mitochondrial inner membrane	IDA	28615291
GO:0005743	Component	Mitochondrial inner membrane	IDA	20693986, 32494073
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IMP	27099988
GO:0005743	Component	Mitochondrial inner membrane	NAS	24514027, 31533452, 31862210
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005758	Component	Mitochondrial intermembrane space	IDA	24231807, 24560927
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006851	Process	Mitochondrial calcium ion transmembrane transport	IDA	24560927
GO:0006851	Process	Mitochondrial calcium ion transmembrane transport	IEA
GO:0006851	Process	Mitochondrial calcium ion transmembrane transport	IMP	23101630, 27099988
GO:0006952	Process	Defense response	TAS	9806765
GO:0016020	Component	Membrane	IEA
GO:0019855	Function	Calcium channel inhibitor activity	IDA	32494073, 37036971, 37126688
GO:0031966	Component	Mitochondrial membrane	IDA	23101630
GO:0034704	Component	Calcium channel complex	IEA
GO:0034704	Component	Calcium channel complex	ISS
GO:0036444	Process	Calcium import into the mitochondrion	IBA
GO:0036444	Process	Calcium import into the mitochondrion	IDA	22925203, 23755363, 29725115
GO:0036444	Process	Calcium import into the mitochondrion	IDA	27642082, 28615291, 30638448, 31397067, 32148862, 32494073, 32667285, 32762847, 32790952, 36206740
GO:0036444	Process	Calcium import into the mitochondrion	IEA
GO:0036444	Process	Calcium import into the mitochondrion	IMP	23755363
GO:0036444	Process	Calcium import into the mitochondrion	IMP	26903221
GO:0036444	Process	Calcium import into the mitochondrion	ISS
GO:0036444	Process	Calcium import into the mitochondrion	NAS	24514027, 31533452, 31862210
GO:0042802	Function	Identical protein binding	IPI	24514027
GO:0044284	Component	Mitochondrial crista junction	IDA	31427612
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	24560927, 26387864, 28615291, 29725115, 30699349, 32148862, 32790952
GO:0051260	Process	Protein homooligomerization	IDA	24514027
GO:0051560	Process	Mitochondrial calcium ion homeostasis	IBA
GO:0051560	Process	Mitochondrial calcium ion homeostasis	IDA	32494073
GO:0051560	Process	Mitochondrial calcium ion homeostasis	IMP	20693986, 23101630, 26903221, 27099988
GO:0051560	Process	Mitochondrial calcium ion homeostasis	NAS	24514027, 31533452, 31862210
GO:0051561	Process	Positive regulation of mitochondrial calcium ion concentration	IDA	24560927
GO:0051561	Process	Positive regulation of mitochondrial calcium ion concentration	IMP	26975899
GO:0061891	Function	Calcium ion sensor activity	IDA	27642082, 28615291, 32148862, 32494073, 32667285, 32762847, 32790952
GO:0061891	Function	Calcium ion sensor activity	IEA
GO:0061891	Function	Calcium ion sensor activity	ISS
GO:0070509	Process	Calcium ion import	IDA	20693986
GO:0071277	Process	Cellular response to calcium ion	IDA	29725115, 32494073
GO:0071277	Process	Cellular response to calcium ion	IDA	32494073
GO:0072732	Process	Cellular response to calcium ion starvation	IDA	32494073
GO:0072732	Process	Cellular response to calcium ion starvation	IMP	32494073
GO:1900069	Process	Regulation of cellular hyperosmotic salinity response	IMP	26975899
GO:1903852	Process	Positive regulation of cristae formation	IDA	31427612, 37098122
GO:1903852	Process	Positive regulation of cristae formation	IEA
GO:1990246	Component	Uniplex complex	IBA
GO:1990246	Component	Uniplex complex	IDA	24231807, 24560927, 32667285, 32762847, 32862359
GO:1990246	Component	Uniplex complex	IPI	32494073
GO:1990246	Component	Uniplex complex	ISS
GO:1990246	Component	Uniplex complex	NAS	31533452

MIM	HGNC	e!Ensembl
605084	1530	ENSG00000107745

Q9BPX6

Protein name

Calcium uptake protein 1, mitochondrial (Atopy-related autoantigen CALC) (ara CALC) (Calcium-binding atopy-related autoantigen 1) (allergen Hom s 4)

Protein function

Calcium sensor of the mitochondrial calcium uniporter (MCU) channel, which senses calcium level via its EF-hand domains (PubMed:20693986, PubMed:23101630, PubMed:23747253, PubMed:24313810, PubMed:24332854, PubMed:24503055, PubMed:24560927, PubMe

PDB

4NSC , 4NSD , 6K7Y , 6LB7 , 6LB8 , 6LE5 , 6WDN , 6WDO , 6XJV , 6XJX , 6XQN , 6XQO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13202	EF-hand_5	223 → 247	EF hand	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in epithelial cell lines. Strongly expressed in epidermal keratinocytes and dermal endothelial cells. {ECO:0000269|PubMed:16002733, ECO:0000269|PubMed:9806765}.

Sequence

MFRLNSLSALAELAVGSRWYHGGSQPIQIRRRLMMVAFLGASAVTASTGLLWKRAHAESP
PCVDNLKSDIGDKGKNKDEGDVCNHEKKTADLAPHPEEKKKKRSGFRDRKVMEYENRIRA
YSTPDKIFRYFATLKVISEPGEAEVFMTPEDFVRSITPNEKQPEHLGLDQYIIKRFDGKK
ISQEREKFADEGSIFYTLGECGLISFSDYIFLTTVLSTPQRNFEIAFKMFDLNGDGEVDM
EEFEQVQSIIRSQTSMGMRHRDRPTTGNTLKSGLCSALTTYFFGADLKGKLTIKNFLEFQ
RKLQHDVLKLEFERHDPVDGRITERQFGGMLLAYSGVQSKKLTAMQRQLKKHFKEGKGLT
FQEVENFFTFLKNINDVDTALSFYHMAGASLDKVTMQQVARTVAKVELSDHVCDVVFALF
DCDGNGELSNKEFVSIMKQRLMRGLEKPKDMGFTRLMQAMWKCAQETAWDFALPKQ

Sequence length

476

Interactions

View interactions

	Reactome
			Mitochondrial calcium ion transport Processing of SMDT1

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)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
MICU1-related disorder	Likely pathogenic; Pathogenic	rs755651388	RCV003397615	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs369069489, rs749124658	RCV002277672 RCV002279272	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proximal myopathy with extrapyramidal signs	Likely pathogenic; Pathogenic	rs1840027040, rs1840335901, rs754639936, rs369915689, rs746453954, rs375664373, rs755651388, rs2495370637, rs1135401814, rs749124658, rs538329212, rs375502236	RCV001328705 RCV001335371 RCV000087303 RCV000087304 RCV001527687 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormality of the nervous system	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL GANGLIA DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (64)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Learning Disorders	Learning Disorders	CTD_human_DG	24336167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	32799327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29461604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29461604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal Ganglia Diseases	CTD_human_DG	24336167		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	28132899, 39973469	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	27297032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24802861, 26851845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24802861	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	24802861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28530221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28292968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	28132899	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28292968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28292968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	28292968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Etat Marbre	Status marmoratus	CTD_human_DG	24336167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Extrapyramidal Disorders	Extrapyramidal disease	CTD_human_DG	24336167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28292968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	28292968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28132899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	CTD_human_DG	24336167		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disorders	Learning Disorders	CTD_human_DG	24336167		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disturbance	Learning Disorders	CTD_human_DG	24336167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lenticulostriate Disorders	Lenticulostriate Disorders	CTD_human_DG	24336167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lingual-Facial-Buccal Dyskinesia	Orofacial dyskinesia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24802861, 26851845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28530221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25824785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24802861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30504268		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	26336993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	24336167		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement Disorders	CTD_human_DG	24336167		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	24336167		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	CTD_human_DG	24336167		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY WITH EXTRAPYRAMIDAL SIGNS	Myopathy With Extrapyramidal Signs	ORPHANET_DG	24336167		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY WITH EXTRAPYRAMIDAL SIGNS	Myopathy With Extrapyramidal Signs	GENOMICS_ENGLAND_DG	24336167, 29721912		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY WITH EXTRAPYRAMIDAL SIGNS	Myopathy With Extrapyramidal Signs	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY WITH EXTRAPYRAMIDAL SIGNS	Myopathy With Extrapyramidal Signs	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30504268		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28198506, 30403999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	31665639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	39973469	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28530221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32743073, 32851774	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25824785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25824785	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Proximal myopathy with extrapyramidal signs	Proximal myopathy with extrapyramidal signs	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	20682585		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Aplastic Anemia	Anemia	BEFREE	8428754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	28132899	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34189138	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34847839	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	26378043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Young onset Parkinson disease	Parkinson disease	BEFREE	30242232		★★★★★ ★☆☆☆☆ Found in Text Mining only

MICU1 (mitochondrial calcium uptake 1)