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
parkinsonism with polyneuropathy (Limited), mode of inheritance: AD

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.

not_specified (72 variants)
Parkinsonism_with_polyneuropathy (11 variants)
not_provided (3 variants)
UQCRC1-related_disorder (2 variants)
Hypertrophic_cardiomyopathy (1 variants)

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. These statistics are base on transcript: NM_000003365.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense	2 clinvar	2 clinvar	76 clinvar	3 clinvar		83
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	2	2	78	3	0

Highest pathogenic variant AF is 0.000050658753

Loading clinvar variants...

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
Phenotype

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