MCUR1

mitochondrial calcium uniporter regulator 1

Basic information

Region (hg38): 6:13786557-13814568

Previous symbols: [ "C6orf79", "CCDC90A" ]

Links

ENSG00000050393 ∙ NCBI:63933 ∙ OMIM:616952 ∙ HGNC:21097 ∙ Uniprot:Q96AQ8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MCUR1 gene.

• not_specified (51 variants)
• not_provided (1 variants)
• Wolff-Parkinson-White_pattern (1 variants)
• Muscular_atrophy (1 variants)
• Pes_cavus (1 variants)
• Highly_elevated_creatine_kinase (1 variants)
• Skeletal_myopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MCUR1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001031713.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			50	1		51
nonsense	1					1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	1	0	50	1	1

Highest pathogenic variant AF is 0.000023646458

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MCUR1	protein_coding	protein_coding	ENST00000379170	9	28012

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000112	0.583	125699	0	48	125747	0.000191

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.237	150	142	1.06	0.00000725	2252
Missense in Polyphen		56	55.162	1.0152		783
Synonymous	0.304	53	55.9	0.948	0.00000290	730
Loss of Function	0.928	11	14.9	0.740	7.07e-7	221

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000330	0.000328
Ashkenazi Jewish	0.000895	0.000893
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000203	0.000202
Middle Eastern	0.000109	0.000109
South Asian	0.000132	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Key regulator of mitochondrial calcium uniporter (MCU) required for calcium entry into mitochondrion (PubMed:23178883, PubMed:26445506, PubMed:27184846, PubMed:26976564). Plays a direct role in uniporter-mediated calcium uptake via a direct interaction with MCU (PubMed:23178883). Probably involved in the assembly of the membrane components of the uniporter complex (uniplex) (PubMed:27184846). {ECO:0000269|PubMed:23178883, ECO:0000269|PubMed:26445506, ECO:0000269|PubMed:26976564, ECO:0000269|PubMed:27184846}.

Haploinsufficiency Scores

• pHI: 0.161
• hipred: N
• hipred_score: 0.144
• ghis: 0.536

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Mcur1
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); respiratory system phenotype; homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: mitochondrial calcium ion transmembrane transport;calcium import into the mitochondrion;positive regulation of mitochondrial calcium ion concentration;calcium ion import
• Cellular component: mitochondrion;integral component of mitochondrial inner membrane
• Molecular function: protein binding