Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	1537
Gene name	Cytochrome c1
Gene symbol	CYC1
Synonyms (NCBI Gene)	MC3DN6UQCR4
Chromosome	8
Chromosome location	8q24.3
Summary	This gene encodes a subunit of the cytochrome bc1 complex, which plays an important role in the mitochondrial respiratory chain by transferring electrons from the Rieske iron-sulfur protein to cytochrome c. Mutations in this gene may cause mitochondrial c

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777041	G>T	Pathogenic	Missense variant, coding sequence variant
rs587777042	C>T	Pathogenic	Missense variant, coding sequence variant

39 Show/Hide all (39)

miRTarBase ID	miRNA	Experiments	Reference
MIRT040321	hsa-miR-615-3p	CLASH	23622248
MIRT735397	hsa-miR-483-3p	qRT-PCR	33219048
MIRT919929	hsa-miR-1207-5p	CLIP-seq
MIRT919930	hsa-miR-1245b-3p	CLIP-seq
MIRT919931	hsa-miR-1587	CLIP-seq
MIRT919932	hsa-miR-1913	CLIP-seq
MIRT919933	hsa-miR-1976	CLIP-seq
MIRT919934	hsa-miR-2392	CLIP-seq
MIRT919935	hsa-miR-2861	CLIP-seq
MIRT919936	hsa-miR-3128	CLIP-seq
MIRT919937	hsa-miR-3152-5p	CLIP-seq
MIRT919938	hsa-miR-3180-5p	CLIP-seq
MIRT919939	hsa-miR-3188	CLIP-seq
MIRT919940	hsa-miR-324-3p	CLIP-seq
MIRT919941	hsa-miR-3616-3p	CLIP-seq
MIRT919942	hsa-miR-3663-5p	CLIP-seq
MIRT919943	hsa-miR-4313	CLIP-seq
MIRT919944	hsa-miR-4512	CLIP-seq
MIRT919945	hsa-miR-4674	CLIP-seq
MIRT919946	hsa-miR-4709-3p	CLIP-seq
MIRT919947	hsa-miR-4720-5p	CLIP-seq
MIRT919948	hsa-miR-4721	CLIP-seq
MIRT919949	hsa-miR-4722-3p	CLIP-seq
MIRT919950	hsa-miR-4736	CLIP-seq
MIRT919951	hsa-miR-4763-3p	CLIP-seq
MIRT919952	hsa-miR-4778-3p	CLIP-seq
MIRT919953	hsa-miR-4799-3p	CLIP-seq
MIRT919954	hsa-miR-520a-5p	CLIP-seq
MIRT919955	hsa-miR-525-5p	CLIP-seq
MIRT919956	hsa-miR-635	CLIP-seq
MIRT919957	hsa-miR-760	CLIP-seq
MIRT1972663	hsa-miR-1252	CLIP-seq
MIRT1972664	hsa-miR-3173-3p	CLIP-seq
MIRT1972665	hsa-miR-3938	CLIP-seq
MIRT1972666	hsa-miR-4488	CLIP-seq
MIRT1972667	hsa-miR-4656	CLIP-seq
MIRT1972668	hsa-miR-4697-5p	CLIP-seq
MIRT1972669	hsa-miR-4775	CLIP-seq
MIRT1972670	hsa-miR-4779	CLIP-seq

Transcription factor	Regulation	Reference
E2F6	Unknown	10998368

23 Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17500595, 28514442, 32814053, 33961781
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	2536365
GO:0005743	Component	Mitochondrial inner membrane	IDA	28844695
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006122	Process	Mitochondrial electron transport, ubiquinol to cytochrome c	IBA
GO:0006122	Process	Mitochondrial electron transport, ubiquinol to cytochrome c	NAS	28844695
GO:0008121	Function	Quinol-cytochrome-c reductase activity	IEA
GO:0009055	Function	Electron transfer activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0020037	Function	Heme binding	IEA
GO:0033762	Process	Response to glucagon	IEA
GO:0045275	Component	Respiratory chain complex III	IBA
GO:0045275	Component	Respiratory chain complex III	IEA
GO:0045333	Process	Cellular respiration	NAS	28844695
GO:0046872	Function	Metal ion binding	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
123980	2579	ENSG00000179091

P08574

Protein name

Cytochrome c1, heme protein, mitochondrial (EC 7.1.1.8) (Complex III subunit 4) (Complex III subunit IV) (Cytochrome b-c1 complex subunit 4) (Ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit) (Cytochrome c-1)

Protein function

Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complex

PDB

5XTE , 5XTH , 5XTI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02167	Cytochrom_C1	96 → 314	Cytochrome C1 family	Family

Sequence

MAAAAASLRGVVLGPRGAGLPGARARGLLCSARPGQLPLRTPQAVALSSKSGLSRGRKVM
LSALGMLAAGGAGLAMALHSAVSASDLELHPPSYPWSHRGLLSSLDHTSIRRGFQVYKQV
CASCHSMDFVAYRHLVGVCYTEDEAKELAAEVEVQDGPNEDGEMFMRPGKLFDYFPKPYP
NSEAARAANNGALPPDLSYIVRARHGGEDYVFSLLTGYCEPPTGVSLREGLYFNPYFPGQ
AIAMAPPIYTDVLEFDDGTPATMSQIAKDVCTFLRWASEPEHDHRKRMGLKMLMMMALLV
PLVYTIKRHKWSVLKSRKLAYRPPK

Sequence length

325

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Oxidative phosphorylation	Respiratory electron transport
Metabolic pathways
Cardiac muscle contraction
Thermogenesis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mitochondrial complex III deficiency nuclear type 6	Pathogenic	rs587777041, rs587777042	RCV000056262 RCV000056263	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (9)
Acute myeloid leukemia	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYC1-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	23910460, 25914718	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6	—	Disgenet, HPO Disgenet, HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	23910460, 27074787, 28844695, 34252606	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet, ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
NDUFB10	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	8	["Oxidative phosphorylation","Thermogenesis","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport"]	7	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","GWAS catalog (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","GWAS catalog (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
NDUFA11	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	8	["Oxidative phosphorylation","Thermogenesis","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport"]	7	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","GWAS catalog (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","GWAS catalog (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
UQCRC2	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	9	["Oxidative phosphorylation","Cardiac muscle contraction","Thermogenesis","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport"]	7	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","GWAS catalog (Mitochondrial complex deficiency)","CTD (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
NDUFA8	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	8	["Oxidative phosphorylation","Thermogenesis","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport"]	6	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","GWAS catalog (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
NDUFA6	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	8	["Oxidative phosphorylation","Thermogenesis","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport"]	6	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","GWAS catalog (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]

CYC1 (cytochrome c1)

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