UQCRC1

ubiquinol-cytochrome c reductase core protein 1, the group of Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits|M16 metallopeptidases

Basic information

Region (hg38): 3:48599002-48610976

Links

ENSG00000010256 ∙ NCBI:7384 ∙ OMIM:191328 ∙ HGNC:12585 ∙ Uniprot:P31930 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• parkinsonism with polyneuropathy (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Parkinsonism with polyneuropathy	AD	Neurologic	Response to levodopa and anticholinergics has been described	Neurologic	33141179

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the UQCRC1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UQCRC1 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			47	2		49
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	47	2	0

Variants in UQCRC1

This is a list of pathogenic ClinVar variants found in the UQCRC1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-48599151-C-A		not specified	Uncertain significance (Aug 10, 2021)
3-48599162-C-T		not specified	Uncertain significance (Mar 20, 2024)
3-48599650-C-T		not specified	Uncertain significance (Apr 13, 2022)
3-48599668-T-G		not specified	Uncertain significance (May 01, 2022)
3-48599682-A-G		not specified	Uncertain significance (Jan 19, 2024)
3-48599688-C-T		not specified	Uncertain significance (Dec 01, 2022)
3-48599701-C-A		not specified	Uncertain significance (Oct 30, 2023)
3-48600064-G-A		not specified	Uncertain significance (Feb 22, 2023)
3-48600070-C-T		not specified	Uncertain significance (Sep 24, 2024)
3-48600101-G-A		not specified	Uncertain significance (Oct 30, 2023)
3-48600125-C-T		not specified	Uncertain significance (Aug 16, 2021)
3-48600508-C-A		not specified	Uncertain significance (Dec 11, 2023)
3-48600526-C-T		not specified	Uncertain significance (Sep 16, 2021)
3-48600529-G-A		not specified	Likely benign (Jun 10, 2022)
3-48600562-C-T		not specified	Uncertain significance (Mar 01, 2024)
3-48600686-C-T		not specified	Uncertain significance (Jan 30, 2024)
3-48600711-C-T		not specified	Uncertain significance (Apr 08, 2022)
3-48600755-G-A		not specified	Uncertain significance (Dec 06, 2023)
3-48600813-C-T		not specified	Uncertain significance (Aug 05, 2024)
3-48600977-C-T		Parkinsonism with polyneuropathy	Uncertain significance (-)
3-48600991-G-A		not specified	Uncertain significance (May 18, 2023)
3-48601000-T-G		Parkinsonism with polyneuropathy	Pathogenic (Aug 10, 2021)
3-48601010-T-G		Parkinsonism with polyneuropathy	Pathogenic (Apr 20, 2021)
3-48601037-C-T		not specified	Uncertain significance (Nov 14, 2024)
3-48601039-T-C		UQCRC1-related disorder	Likely benign (Feb 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UQCRC1	protein_coding	protein_coding	ENST00000203407	13	11975

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0200	0.980	125719	0	28	125747	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.555	275	302	0.910	0.0000178	3091
Missense in Polyphen		114	126.28	0.90278		1271
Synonymous	-1.07	131	116	1.13	0.00000629	980
Loss of Function	3.32	8	26.4	0.303	0.00000136	285

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000119	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000159	0.000158
Middle Eastern	0.000218	0.000217
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1.
• Pathway: Cardiac muscle contraction - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);Alzheimer,s disease - Homo sapiens (human);Huntington,s disease - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Oxidative phosphorylation - Homo sapiens (human);Parkinson,s disease - Homo sapiens (human);Mitochondrial Electron Transport Chain;Electron Transport Chain;Respiratory electron transport;The citric acid (TCA) cycle and respiratory electron transport;Metabolism;Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. (Consensus)

Recessive Scores

• pRec: 0.241

Intolerance Scores

• loftool: 0.364
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.71

Haploinsufficiency Scores

• pHI: 0.196
• hipred: Y
• hipred_score: 0.704
• ghis: 0.551

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.945

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Uqcrc1

Gene ontology

• Biological process: oxidative phosphorylation;mitochondrial electron transport, ubiquinol to cytochrome c;proteolysis;response to activity;response to alkaloid;oxidation-reduction process
• Cellular component: mitochondrion;mitochondrial inner membrane;mitochondrial respirasome;cytosol;myelin sheath
• Molecular function: ubiquinol-cytochrome-c reductase activity;ubiquitin protein ligase binding;protein-containing complex binding;metal ion binding