MICU1 (mitochondrial calcium uptake 1)

Gene

• Entrez ID: 10367
• Gene name: Mitochondrial calcium uptake 1
• Gene symbol: MICU1
• Synonyms: CALC, CBARA1, EFHA3, MPXPS, ara 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005509	Function	Calcium ion binding	IDA	23101630, 24514027
GO:0005509	Function	Calcium ion binding	TAS	26975899
GO:0005515	Function	Protein binding	IPI	21685886, 23101630, 23178883, 24430870, 24560927, 26387864, 27099988, 32494073
GO:0005622	Component	Intracellular anatomical structure	TAS	9806765
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	TAS	26975899
GO:0005743	Component	Mitochondrial inner membrane	IDA	20693986
GO:0005743	Component	Mitochondrial inner membrane	IMP	27099988
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005758	Component	Mitochondrial intermembrane space	IDA	24231807, 24560927
GO:0006851	Process	Mitochondrial calcium ion transmembrane transport	IDA	24560927
GO:0006851	Process	Mitochondrial calcium ion transmembrane transport	IMP	23101630, 27099988
GO:0006851	Process	Mitochondrial calcium ion transmembrane transport	TAS
GO:0006952	Process	Defense response	TAS	9806765
GO:0032592	Component	Integral component of mitochondrial membrane	IDA	23101630
GO:0034704	Component	Calcium channel complex	ISS
GO:0036444	Process	Calcium import into the mitochondrion	IBA	21873635
GO:0036444	Process	Calcium import into the mitochondrion	IMP	26903221
GO:0042802	Function	Identical protein binding	IPI	24514027
GO:0046982	Function	Protein heterodimerization activity	IPI	24560927, 26387864
GO:0051260	Process	Protein homooligomerization	IDA	24514027
GO:0051560	Process	Mitochondrial calcium ion homeostasis	IBA	21873635
GO:0051560	Process	Mitochondrial calcium ion homeostasis	IMP	20693986, 23101630, 26903221, 27099988
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:0070509	Process	Calcium ion import	IDA	20693986
GO:1900069	Process	Regulation of cellular hyperosmotic salinity response	IMP	26975899
GO:1990246	Component	Uniplex complex	IBA	21873635
GO:1990246	Component	Uniplex complex	IDA	24231807, 24560927

Other IDs

• MIM: 605084
• HGNC: 1530
• e!Ensembl: ENSG00000107745

Protein

• UniProt ID: 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

• Sequence:

  MFRLNSLSALAELAVGSRWYHGGSQPIQIRRRLMMVAFLGASAVTASTGLLWKRAHAESP
  PCVDNLKSDIGDKGKNKDEGDVCNHEKKTADLAPHPEEKKKKRSGFRDRKVMEYENRIRA
  YSTPDKIFRYFATLKVISEPGEAEVFMTPEDFVRSITPNEKQPEHLGLDQYIIKRFDGKK
  ISQEREKFADEGSIFYTLGECGLISFSDYIFLTTVLSTPQRNFEIAFKMFDLNGDGEVDM
  EEFEQVQSIIRSQTSMGMRHRDRPTTGNTLKSGLCSALTTYFFGADLKGKLTIKNFLEFQ
  RKLQHDVLKLEFERHDPVDGRITERQFGGMLLAYSGVQSKKLTAMQRQLKKHFKEGKGLT
  FQEVENFFTFLKNINDVDTALSFYHMAGASLDKVTMQQVARTVAKVELSDHVCDVVFALF
  DCDGNGELSNKEFVSIMKQRLMRGLEKPKDMGFTRLMQAMWKCAQETAWDFALPKQ

• Sequence length: 476

Pathways

Reactome:

Mitochondrial calcium ion transport
Processing of SMDT1

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338	24336167
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Proximal myopathy with extrapyramidal signs	Proximal myopathy with extrapyramidal signs	rs754639936, rs369915689, rs375664373, rs1135401814, rs749124658, rs538329212

Unknown
Disease name	Disease term	dbSNP ID	References
Basal ganglia diseases	Basal Ganglia Diseases		24336167
Extrapyramidal disease	Extrapyramidal Disorders		24336167
Learning disorders	Learning Disorders, Adult Learning Disorders, Learning Disturbance, Learning Disabilities		24336167
Lenticulostriate disorders	Lenticulostriate Disorders		24336167
Orofacial dyskinesia	Lingual-Facial-Buccal Dyskinesia
Motor delay	Clumsiness - motor delay
Movement disorders	Movement Disorders		24336167
Myopathy with extrapyramidal signs	MYOPATHY WITH EXTRAPYRAMIDAL SIGNS		24336167, 29721912
Peripheral axonal neuropathy	Peripheral axonal neuropathy	rs202219507, rs529035174, rs758974790, rs70983380, rs761291489, rs1579721449, rs1572614757, rs777077185
Ptosis	Blepharoptosis, Ptosis	rs139920573
Specific learning disorder	Specific learning disability	rs1057519497
Status marmoratus	Etat Marbre		24336167