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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	63933
Gene name	Mitochondrial calcium uniporter regulator 1
Gene symbol	MCUR1
Synonyms (NCBI Gene)	C6orf79CCDC90AFMP32
Chromosome	6
Chromosome location	6p23

102

Show/Hide all (102)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029243	hsa-miR-26b-5p	Microarray	19088304
MIRT041904	hsa-miR-484	CLASH	23622248
MIRT682472	hsa-miR-4695-5p	HITS-CLIP	23706177
MIRT682471	hsa-miR-1910-3p	HITS-CLIP	23706177
MIRT682470	hsa-miR-6511a-5p	HITS-CLIP	23706177
MIRT682469	hsa-miR-4756-3p	HITS-CLIP	23706177
MIRT682468	hsa-miR-4257	HITS-CLIP	23706177
MIRT682467	hsa-miR-665	HITS-CLIP	23706177
MIRT682466	hsa-miR-6840-3p	HITS-CLIP	23706177
MIRT682465	hsa-miR-4468	HITS-CLIP	23706177
MIRT682464	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT682463	hsa-miR-6086	HITS-CLIP	23706177
MIRT682462	hsa-miR-2467-3p	HITS-CLIP	23706177
MIRT682461	hsa-miR-6499-3p	HITS-CLIP	23706177
MIRT682460	hsa-miR-3612	HITS-CLIP	23706177
MIRT682459	hsa-miR-650	HITS-CLIP	23706177
MIRT682458	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT682457	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT682456	hsa-miR-1273e	HITS-CLIP	23706177
MIRT640690	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT640689	hsa-miR-6072	HITS-CLIP	23824327
MIRT640688	hsa-miR-6891-3p	HITS-CLIP	23824327
MIRT640687	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT640686	hsa-miR-4786-5p	HITS-CLIP	23824327
MIRT640685	hsa-miR-4653-3p	HITS-CLIP	23824327
MIRT640684	hsa-miR-3926	HITS-CLIP	23824327
MIRT640683	hsa-miR-548s	HITS-CLIP	23824327
MIRT640682	hsa-miR-1303	HITS-CLIP	23824327
MIRT536038	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT536037	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT536036	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT536035	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT536034	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT536033	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT536032	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT536031	hsa-miR-302e	PAR-CLIP	22012620
MIRT536030	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT536029	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT536028	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT536027	hsa-miR-520b	PAR-CLIP	22012620
MIRT536026	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT536025	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT536024	hsa-miR-520e	PAR-CLIP	22012620
MIRT536023	hsa-miR-1322	PAR-CLIP	22012620
MIRT536022	hsa-miR-1226-3p	PAR-CLIP	22012620
MIRT536021	hsa-miR-4733-3p	PAR-CLIP	22012620
MIRT536020	hsa-miR-6511a-3p	PAR-CLIP	22012620
MIRT536019	hsa-miR-6511b-3p	PAR-CLIP	22012620
MIRT536018	hsa-miR-6784-3p	PAR-CLIP	22012620
MIRT536017	hsa-miR-6862-3p	PAR-CLIP	22012620
MIRT536016	hsa-miR-1229-3p	PAR-CLIP	22012620
MIRT536015	hsa-miR-7156-3p	PAR-CLIP	22012620
MIRT682472	hsa-miR-4695-5p	HITS-CLIP	23706177
MIRT682471	hsa-miR-1910-3p	HITS-CLIP	23706177
MIRT682470	hsa-miR-6511a-5p	HITS-CLIP	23706177
MIRT682469	hsa-miR-4756-3p	HITS-CLIP	23706177
MIRT682468	hsa-miR-4257	HITS-CLIP	23706177
MIRT682467	hsa-miR-665	HITS-CLIP	23706177
MIRT682466	hsa-miR-6840-3p	HITS-CLIP	23706177
MIRT682465	hsa-miR-4468	HITS-CLIP	23706177
MIRT682464	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT682463	hsa-miR-6086	HITS-CLIP	23706177
MIRT682462	hsa-miR-2467-3p	HITS-CLIP	23706177
MIRT682461	hsa-miR-6499-3p	HITS-CLIP	23706177
MIRT682460	hsa-miR-3612	HITS-CLIP	23706177
MIRT682459	hsa-miR-650	HITS-CLIP	23706177
MIRT682458	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT682457	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT682456	hsa-miR-1273e	HITS-CLIP	23706177
MIRT640690	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT640689	hsa-miR-6072	HITS-CLIP	23824327
MIRT640688	hsa-miR-6891-3p	HITS-CLIP	23824327
MIRT640687	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT640686	hsa-miR-4786-5p	HITS-CLIP	23824327
MIRT640685	hsa-miR-4653-3p	HITS-CLIP	23824327
MIRT640684	hsa-miR-3926	HITS-CLIP	23824327
MIRT640683	hsa-miR-548s	HITS-CLIP	23824327
MIRT640682	hsa-miR-1303	HITS-CLIP	23824327
MIRT536038	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT536037	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT536036	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT536035	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT536034	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT536033	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT536032	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT536031	hsa-miR-302e	PAR-CLIP	22012620
MIRT536030	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT536029	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT536028	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT536027	hsa-miR-520b	PAR-CLIP	22012620
MIRT536026	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT536025	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT536024	hsa-miR-520e	PAR-CLIP	22012620
MIRT536023	hsa-miR-1322	PAR-CLIP	22012620
MIRT536022	hsa-miR-1226-3p	PAR-CLIP	22012620
MIRT536021	hsa-miR-4733-3p	PAR-CLIP	22012620
MIRT536020	hsa-miR-6511a-3p	PAR-CLIP	22012620
MIRT536019	hsa-miR-6511b-3p	PAR-CLIP	22012620
MIRT536018	hsa-miR-6784-3p	PAR-CLIP	22012620
MIRT536017	hsa-miR-6862-3p	PAR-CLIP	22012620
MIRT536016	hsa-miR-1229-3p	PAR-CLIP	22012620
MIRT536015	hsa-miR-7156-3p	PAR-CLIP	22012620

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	23178883, 27184846, 28514442, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IDA	23178883
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0006091	Process	Generation of precursor metabolites and energy	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006851	Process	Mitochondrial calcium ion transmembrane transport	IMP	23178883, 26445506, 27184846
GO:0008283	Process	Cell population proliferation	IEA
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IEA
GO:0036444	Process	Calcium import into the mitochondrion	IBA
GO:0036444	Process	Calcium import into the mitochondrion	IMP	26445506, 27184846
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0051291	Process	Protein heterooligomerization	IEA
GO:0051561	Process	Positive regulation of mitochondrial calcium ion concentration	IBA
GO:0051561	Process	Positive regulation of mitochondrial calcium ion concentration	IMP	23178883, 26445506, 27184846
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0070509	Process	Calcium ion import	IEA
GO:0070509	Process	Calcium ion import	IMP	23178883
GO:0070588	Process	Calcium ion transmembrane transport	IEA

MIM	HGNC	e!Ensembl
616952	21097	ENSG00000050393

Q96AQ8

Protein name

Mitochondrial calcium uniporter regulator 1 (MCU regulator 1) (Coiled-coil domain-containing protein 90A, mitochondrial)

Protein function

Key regulator of mitochondrial calcium uniporter (MCU) required for calcium entry into mitochondrion (PubMed:23178883, PubMed:26445506, PubMed:26976564, PubMed:27184846). Plays a direct role in uniporter-mediated calcium uptake via a direct inte

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07798	DUF1640	166 → 358	Protein of unknown function (DUF1640)	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:23178883}.

Sequence

MDCGSVGGQRTQRLPGRQRLLFLPVGLSGRPGGSETSARRCLSALSDGLGALRPRAPAAR
GGVSRASPLLLLLLVPSPRLAAAAPRRQLGDWERSRLGYAAPPAGRSSAWRCSPGVAAAA
GALPQYHGPAPALVSCRRELSLSAGSLQLERKRRDFTSSGSRKLYFDTHALVCLLEDNGF
ATQQAEIIVSALVKILEANMDIVYKDMVTKMQQEITFQQVMSQIANVKKDMIILEKSEFS
ALRAENEKIKLELHQLKQQVMDEVIKVRTDTKLDFNLEKSRVKELYSLNEKKLLELRTEI
VALHAQQDRALTQTDRKIETEVAGLKTMLESHKLDNIKYLAGSIFTCLTVALGFYRLWI

Sequence length

359

Interactions

View interactions

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 Unknown Diseases (3)

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.
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	34857756	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36071480	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34857756	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome c Oxidase Deficiency	Cytochrome c oxidase deficiency	Pubtator	25565209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30909929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34459387	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MCUR1 (mitochondrial calcium uniporter regulator 1)