NDUFC1

NADH:ubiquinone oxidoreductase subunit C1, the group of NADH:ubiquinone oxidoreductase supernumerary subunits

Basic information

Region (hg38): 4:139266879-139302551

Links

ENSG00000109390 ∙ NCBI:4717 ∙ OMIM:603844 ∙ HGNC:7705 ∙ Uniprot:O43677 ∙ 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 NDUFC1 gene.

• not provided (7 variants)
• Inborn genetic diseases (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NDUFC1 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			6	1		7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding	1	1	1		4	7
Total	1	1	7	1	4

Variants in NDUFC1

This is a list of pathogenic ClinVar variants found in the NDUFC1 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-139266922-T-C		not specified	Likely benign (Nov 10, 2022)
4-139267009-C-A		not specified	Uncertain significance (Oct 06, 2022)
4-139267033-C-T		not specified	Uncertain significance (Sep 20, 2023)
4-139268684-G-C		not specified	Uncertain significance (Feb 27, 2023)
4-139268742-G-T		not specified	Likely benign (Feb 17, 2022)
4-139275302-G-A		not specified	Uncertain significance (Sep 06, 2022)
4-139275315-C-T		not specified	Uncertain significance (Feb 28, 2024)
4-139275384-G-A		not specified	Uncertain significance (Oct 16, 2023)
4-139280103-G-A		not specified	Uncertain significance (Aug 22, 2023)
4-139292602-T-C		not specified	Likely benign (Dec 16, 2021)
4-139292605-A-G		not specified	Uncertain significance (Dec 28, 2023)
4-139295047-A-T		not specified	Uncertain significance (Oct 06, 2022)
4-139295084-C-T		not specified	Uncertain significance (May 30, 2022)
4-139295753-G-T		not specified	Uncertain significance (Apr 18, 2023)
4-139295776-C-A		not specified	Uncertain significance (Apr 13, 2023)
4-139295785-G-C		not specified	Uncertain significance (Feb 28, 2023)
4-139295794-G-A		not specified	Uncertain significance (Apr 13, 2022)
4-139301217-G-A			Benign (Nov 12, 2018)
4-139301326-T-C			Benign (Nov 12, 2018)
4-139301383-A-G			Benign (Nov 12, 2018)
4-139301797-C-T			Uncertain significance (Dec 01, 2023)
4-139301802-A-G			Uncertain significance (May 24, 2021)
4-139301805-G-T			Pathogenic (Jul 30, 2022)
4-139301823-C-G			Likely pathogenic (Jan 16, 2020)
4-139301831-GGT-G			Likely pathogenic (Jun 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NDUFC1	protein_coding	protein_coding	ENST00000544855	3	35672

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.101	0.783	125717	0	1	125718	0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.651	47	36.0	1.31	0.00000185	458
Missense in Polyphen		15	12.204	1.2291		175
Synonymous	-0.330	19	17.3	1.10	9.29e-7	156
Loss of Function	1.21	2	4.89	0.409	2.99e-7	50

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. {ECO:0000269|PubMed:27626371}.
• Pathway: Retrograde endocannabinoid signaling - 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);Electron Transport Chain;Oxidative phosphorylation;Respiratory electron transport;The citric acid (TCA) cycle and respiratory electron transport;Metabolism;Complex I biogenesis;Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. (Consensus)

Recessive Scores

• pRec: 0.117

Intolerance Scores

• loftool: 0.162
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58

Haploinsufficiency Scores

• pHI: 0.0800
• hipred: N
• hipred_score: 0.145
• ghis: 0.566

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ndufc1

Gene ontology

• Biological process: mitochondrial electron transport, NADH to ubiquinone;mitochondrial respiratory chain complex I assembly
• Cellular component: mitochondrion;mitochondrial inner membrane;mitochondrial respiratory chain complex I;integral component of membrane
• Molecular function: NADH dehydrogenase (ubiquinone) activity