UQCRC1 (ubiquinol-cytochrome c reductase core protein 1)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 7384
• Gene name: Ubiquinol-cytochrome c reductase core protein 1
• Gene symbol: UQCRC1
• Synonyms (NCBI Gene): D3S3191, PKNPY, QCR1, UQCR1
• Chromosome: 3
• Chromosome location: 3p21.31

miRNA Show/Hide all (76)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050603	hsa-miR-20a-5p	CLASH	23622248
MIRT048908	hsa-miR-93-5p	CLASH	23622248
MIRT048017	hsa-miR-30c-5p	CLASH	23622248
MIRT047130	hsa-miR-183-5p	CLASH	23622248
MIRT047130	hsa-miR-183-5p	CLASH	23622248
MIRT036834	hsa-miR-877-3p	CLASH	23622248
MIRT036243	hsa-miR-320b	CLASH	23622248
MIRT036152	hsa-miR-1296-5p	CLASH	23622248
MIRT2143617	hsa-miR-1290	CLIP-seq
MIRT2143618	hsa-miR-214	CLIP-seq
MIRT2143619	hsa-miR-2467-3p	CLIP-seq
MIRT2143620	hsa-miR-3619-5p	CLIP-seq
MIRT2143621	hsa-miR-4291	CLIP-seq
MIRT2143622	hsa-miR-761	CLIP-seq
MIRT2143623	hsa-miR-922	CLIP-seq
MIRT2143617	hsa-miR-1290	CLIP-seq
MIRT2143618	hsa-miR-214	CLIP-seq
MIRT2143619	hsa-miR-2467-3p	CLIP-seq
MIRT2143620	hsa-miR-3619-5p	CLIP-seq
MIRT2143621	hsa-miR-4291	CLIP-seq
MIRT2143622	hsa-miR-761	CLIP-seq
MIRT2143623	hsa-miR-922	CLIP-seq
MIRT2657649	hsa-miR-1291	CLIP-seq
MIRT2657650	hsa-miR-302a	CLIP-seq
MIRT2657651	hsa-miR-302b	CLIP-seq
MIRT2657652	hsa-miR-302c	CLIP-seq
MIRT2657653	hsa-miR-302d	CLIP-seq
MIRT2657654	hsa-miR-302e	CLIP-seq
MIRT2657655	hsa-miR-3125	CLIP-seq
MIRT2657656	hsa-miR-3144-5p	CLIP-seq
MIRT2657657	hsa-miR-3173-5p	CLIP-seq
MIRT2657658	hsa-miR-372	CLIP-seq
MIRT2657659	hsa-miR-373	CLIP-seq
MIRT2657660	hsa-miR-376c	CLIP-seq
MIRT2657661	hsa-miR-3916	CLIP-seq
MIRT2657662	hsa-miR-4290	CLIP-seq
MIRT2657663	hsa-miR-4447	CLIP-seq
MIRT2657664	hsa-miR-4472	CLIP-seq
MIRT2657665	hsa-miR-4537	CLIP-seq
MIRT2657666	hsa-miR-4707-5p	CLIP-seq
MIRT2657667	hsa-miR-512-3p	CLIP-seq
MIRT2657668	hsa-miR-520a-3p	CLIP-seq
MIRT2657669	hsa-miR-520b	CLIP-seq
MIRT2657670	hsa-miR-520c-3p	CLIP-seq
MIRT2657671	hsa-miR-520d-3p	CLIP-seq
MIRT2657672	hsa-miR-520e	CLIP-seq
MIRT2657673	hsa-miR-541	CLIP-seq
MIRT2657674	hsa-miR-654-5p	CLIP-seq
MIRT2657675	hsa-miR-877	CLIP-seq
MIRT2657649	hsa-miR-1291	CLIP-seq
MIRT2657650	hsa-miR-302a	CLIP-seq
MIRT2657651	hsa-miR-302b	CLIP-seq
MIRT2657652	hsa-miR-302c	CLIP-seq
MIRT2657653	hsa-miR-302d	CLIP-seq
MIRT2657654	hsa-miR-302e	CLIP-seq
MIRT2657655	hsa-miR-3125	CLIP-seq
MIRT2657656	hsa-miR-3144-5p	CLIP-seq
MIRT2657657	hsa-miR-3173-5p	CLIP-seq
MIRT2657658	hsa-miR-372	CLIP-seq
MIRT2657659	hsa-miR-373	CLIP-seq
MIRT2657660	hsa-miR-376c	CLIP-seq
MIRT2657661	hsa-miR-3916	CLIP-seq
MIRT2657662	hsa-miR-4290	CLIP-seq
MIRT2657663	hsa-miR-4447	CLIP-seq
MIRT2657664	hsa-miR-4472	CLIP-seq
MIRT2657665	hsa-miR-4537	CLIP-seq
MIRT2657666	hsa-miR-4707-5p	CLIP-seq
MIRT2657667	hsa-miR-512-3p	CLIP-seq
MIRT2657668	hsa-miR-520a-3p	CLIP-seq
MIRT2657669	hsa-miR-520b	CLIP-seq
MIRT2657670	hsa-miR-520c-3p	CLIP-seq
MIRT2657671	hsa-miR-520d-3p	CLIP-seq
MIRT2657672	hsa-miR-520e	CLIP-seq
MIRT2657673	hsa-miR-541	CLIP-seq
MIRT2657674	hsa-miR-654-5p	CLIP-seq
MIRT2657675	hsa-miR-877	CLIP-seq

Gene ontology (GO) Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32161263, 32814053, 35101990
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
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:0006119	Process	Oxidative phosphorylation	TAS	8407948
GO:0006122	Process	Mitochondrial electron transport, ubiquinol to cytochrome c	IEA
GO:0006122	Process	Mitochondrial electron transport, ubiquinol to cytochrome c	NAS	28844695
GO:0008121	Function	Quinol-cytochrome-c reductase activity	TAS	8407948
GO:0009060	Process	Aerobic respiration	TAS	8407948
GO:0014823	Process	Response to activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	19725078
GO:0043279	Process	Response to alkaloid	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045275	Component	Respiratory chain complex III	IEA
GO:0045333	Process	Cellular respiration	NAS	28844695
GO:0046872	Function	Metal ion binding	IEA
GO:0098803	Component	Respiratory chain complex	IEA
GO:0098803	Component	Respiratory chain complex	TAS	8407948
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 191328
• HGNC: 12585
• e!Ensembl: ENSG00000010256

Protein

• UniProt ID: P31930
• Protein name: Cytochrome b-c1 complex subunit 1, mitochondrial (Complex III subunit 1) (Core protein I) (Ubiquinol-cytochrome-c reductase complex core protein 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
  PF00675	Peptidase_M16	58 → 205	Insulinase (Peptidase family M16)	Family
  PF05193	Peptidase_M16_C	210 → 395	Peptidase M16 inactive domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain, including substantia nigra, striatum, cortex and cerebellum, and in spinal cord, heart, kidney, liver and muscle. {ECO:0000269|PubMed:33141179}.
• Sequence:

  MAASVVCRAATAGAQVLLRARRSPALLRTPALRSTATFAQALQFVPETQVSLLDNGLRVA
  SEQSSQPTCTVGVWIDVGSRFETEKNNGAGYFLEHLAFKGTKNRPGSALEKEVESMGAHL
  NAYSTREHTAYYIKALSKDLPKAVELLGDIVQNCSLEDSQIEKERDVILREMQENDASMR
  DVVFNYLHATAFQGTPLAQAVEGPSENVRKLSRADLTEYLSTHYKAPRMVLAAAGGVEHQ
  QLLDLAQKHLGGIPWTYAEDAVPTLTPCRFTGSEIRHRDDALPFAHVAIAVEGPGWASPD
  NVALQVANAIIGHYDCTYGGGVHLSSPLASGAVANKLCQSFQTFSICYAETGLLGAHFVC
  DRMKIDDMMFVLQGQWMRLCTSATESEVARGKNILRNALVSHLDGTTPVCEDIGRSLLTY
  GRRIPLAEWESRIAEVDASVVREICSKYIYDQCPAVAGYGPIEQLPDYNRIRSGMFWLRF
  

• Sequence length: 480

Pathways

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

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hypertrophic cardiomyopathy	Likely pathogenic	rs201911056	RCV001199396	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinsonism with polyneuropathy	Pathogenic; Likely pathogenic	rs780978963, rs2107843274, rs2531442889	RCV001374692 RCV001374693 RCV003236751	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ALZHEIMERS DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	28580392	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UQCRC1-related disorder	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (26)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	26125932, 31377428, 35788655	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27845902	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30842031		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	38378070	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27845902		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	16637013		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	36782329	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	16775426	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	32302684	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27941907		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27845902		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	27845902, 33576442	Associate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	39752790	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	31276465	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31276465		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	16775426		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16775426	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34439877	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33248804, 36593912, 39752790	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	30788857, 33070102	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	30788857		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson disease	Pubtator	33070102	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	33070102	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19110265, 19165527		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27941907		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27941907	Inhibit	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

UQCR11 9 shared pathwaysOxidative phosphorylation, Cardiac muscle contraction, Thermogenesis, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport Related via 9 shared pathways including Oxidative phosphorylation, Cardiac muscle contraction. CYC1 9 shared pathwaysOxidative phosphorylation, Cardiac muscle contraction, Thermogenesis, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport Related via 9 shared pathways including Oxidative phosphorylation, Cardiac muscle contraction. UQCRQ 9 shared pathwaysOxidative phosphorylation, Cardiac muscle contraction, Thermogenesis, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport Related via 9 shared pathways including Oxidative phosphorylation, Cardiac muscle contraction. UQCR10 9 shared pathwaysOxidative phosphorylation, Cardiac muscle contraction, Thermogenesis, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport Related via 9 shared pathways including Oxidative phosphorylation, Cardiac muscle contraction. CYTB 9 shared pathwaysOxidative phosphorylation, Cardiac muscle contraction, Thermogenesis, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport Related via 9 shared pathways including Oxidative phosphorylation, Cardiac muscle contraction.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
UQCR11	0	[]	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"]	0	[]
CYC1	0	[]	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"]	0	[]
UQCRQ	0	[]	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"]	0	[]
UQCR10	0	[]	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"]	0	[]
CYTB	0	[]	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"]	0	[]

Diseases Linked via Similar Genes

Mitochondrial complex deficiency Linked via 3 of 5 related genesCYC1, UQCRQ, CYTB Mitochondrial disease Linked via 3 of 5 related genesCYC1, UQCRQ, CYTB Leigh syndrome Linked via 1 of 5 related genesUQCRQ Ankylosing spondylitis Linked via 1 of 5 related genesUQCR10 Crohn disease Linked via 1 of 5 related genesUQCR10

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Mitochondrial complex deficiency	3	["CYC1","UQCRQ","CYTB"]
Mitochondrial disease	3	["CYC1","UQCRQ","CYTB"]
Leigh syndrome	1	["UQCRQ"]
Ankylosing spondylitis	1	["UQCR10"]
Crohn disease	1	["UQCR10"]