UQCRH (ubiquinol-cytochrome c reductase hinge protein)

Download as csv Download as pdf

Log in to bookmark this gene

Bookmark This Gene

Title Project / Tag (optional) Note (optional)

Cancel Save

On this page

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

Gene

• Entrez ID: 7388
• Gene name: Ubiquinol-cytochrome c reductase hinge protein
• Gene symbol: UQCRH
• Synonyms (NCBI Gene): MC3DN11, QCR6, UQCR8
• Chromosome: 1
• Chromosome location: 1p33

miRNA Show/Hide all (55)

miRTarBase ID	miRNA	Experiments	Reference
MIRT459019	hsa-miR-4463	PAR-CLIP	23592263
MIRT459018	hsa-miR-1272	PAR-CLIP	23592263
MIRT459017	hsa-miR-4778-5p	PAR-CLIP	23592263
MIRT459016	hsa-miR-1245b-3p	PAR-CLIP	23592263
MIRT459015	hsa-miR-4502	PAR-CLIP	23592263
MIRT459014	hsa-miR-7155-5p	PAR-CLIP	23592263
MIRT459013	hsa-miR-342-5p	PAR-CLIP	23592263
MIRT459012	hsa-miR-4664-5p	PAR-CLIP	23592263
MIRT459011	hsa-miR-4651	PAR-CLIP	23592263
MIRT459010	hsa-miR-608	PAR-CLIP	23592263
MIRT459009	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT459008	hsa-miR-3192-3p	PAR-CLIP	23592263
MIRT459007	hsa-miR-6737-5p	PAR-CLIP	23592263
MIRT459006	hsa-miR-6812-5p	PAR-CLIP	23592263
MIRT459005	hsa-miR-6819-5p	PAR-CLIP	23592263
MIRT459004	hsa-miR-4762-3p	PAR-CLIP	23592263
MIRT459019	hsa-miR-4463	PAR-CLIP	23592263
MIRT459018	hsa-miR-1272	PAR-CLIP	23592263
MIRT459017	hsa-miR-4778-5p	PAR-CLIP	23592263
MIRT459016	hsa-miR-1245b-3p	PAR-CLIP	23592263
MIRT459015	hsa-miR-4502	PAR-CLIP	23592263
MIRT459014	hsa-miR-7155-5p	PAR-CLIP	23592263
MIRT459013	hsa-miR-342-5p	PAR-CLIP	23592263
MIRT459012	hsa-miR-4664-5p	PAR-CLIP	23592263
MIRT459011	hsa-miR-4651	PAR-CLIP	23592263
MIRT459010	hsa-miR-608	PAR-CLIP	23592263
MIRT459009	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT459008	hsa-miR-3192-3p	PAR-CLIP	23592263
MIRT459007	hsa-miR-6737-5p	PAR-CLIP	23592263
MIRT459006	hsa-miR-6812-5p	PAR-CLIP	23592263
MIRT459005	hsa-miR-6819-5p	PAR-CLIP	23592263
MIRT459004	hsa-miR-4762-3p	PAR-CLIP	23592263
MIRT1476729	hsa-miR-3678-3p	CLIP-seq
MIRT1476730	hsa-miR-376a	CLIP-seq
MIRT1476731	hsa-miR-376b	CLIP-seq
MIRT1476732	hsa-miR-4760-5p	CLIP-seq
MIRT1476733	hsa-miR-522	CLIP-seq
MIRT1476734	hsa-miR-548aa	CLIP-seq
MIRT1476730	hsa-miR-376a	CLIP-seq
MIRT1476731	hsa-miR-376b	CLIP-seq
MIRT2143642	hsa-miR-376c	CLIP-seq
MIRT2143643	hsa-miR-4317	CLIP-seq
MIRT2143644	hsa-miR-634	CLIP-seq
MIRT2363834	hsa-miR-1206	CLIP-seq
MIRT2363835	hsa-miR-1273d	CLIP-seq
MIRT2363836	hsa-miR-3607-5p	CLIP-seq
MIRT2143642	hsa-miR-376c	CLIP-seq
MIRT2143643	hsa-miR-4317	CLIP-seq
MIRT1476732	hsa-miR-4760-5p	CLIP-seq
MIRT2363837	hsa-miR-582-5p	CLIP-seq
MIRT2363838	hsa-miR-600	CLIP-seq
MIRT2143644	hsa-miR-634	CLIP-seq
MIRT2143642	hsa-miR-376c	CLIP-seq
MIRT2143643	hsa-miR-4317	CLIP-seq
MIRT1476732	hsa-miR-4760-5p	CLIP-seq

Gene ontology (GO) Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
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	TAS
GO:0006119	Process	Oxidative phosphorylation	TAS	2826252
GO:0006122	Process	Mitochondrial electron transport, ubiquinol to cytochrome c	IBA
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	IMP	34750991
GO:0008121	Function	Quinol-cytochrome-c reductase activity	TAS	2826252
GO:0009060	Process	Aerobic respiration	TAS	2826252
GO:0016020	Component	Membrane	IEA
GO:0045275	Component	Respiratory chain complex III	IBA
GO:0045333	Process	Cellular respiration	NAS	28844695
GO:0098803	Component	Respiratory chain complex	IEA
GO:0098803	Component	Respiratory chain complex	TAS	2826252
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 613844
• HGNC: 12590
• e!Ensembl: ENSG00000173660

Protein

• UniProt ID: P07919
• Protein name: Cytochrome b-c1 complex subunit 6, mitochondrial (Complex III subunit 6) (Complex III subunit VIII) (Cytochrome c1 non-heme 11 kDa protein) (Mitochondrial hinge protein) (Ubiquinol-cytochrome c reductase complex 11 kDa protein)
• 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
  PF02320	UCR_hinge	28 → 91	Ubiquinol-cytochrome C reductase hinge protein	Family

• Sequence:

  MGLEDEQKMLTESGDPEEEEEEEEELVDPLTTVREQCEQLEKCVKARERLELCDERVSSR
  SHTEEDCTEELFDFLHARDHCVAHKLFNNLK

• Sequence length: 91

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	39998322	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11	—	ClinVar, Disgenet, GenCC, HPO ClinVar, Disgenet, GenCC, HPO ClinVar, Disgenet, GenCC, HPO	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
mitochondrial disease	—	ClinGen	ClinGen report	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (19)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	33942972	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	21901141	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28332314, 36105252	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34133843	Inhibit	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	33942972	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	33942972	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	34133843	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28332314		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	38181234	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12881716, 7684318		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21901141		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28332314, 7684318		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	24156912		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	24156912	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	24204994	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36901944	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	12881716		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	28714002	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	38181234	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ATP5F1E 2 shared diseasesMitochondrial complex deficiency, Mitochondrial disease 6 shared pathwaysOxidative phosphorylation, Thermogenesis, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy 5 shared evidence sourcesClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), GenCC (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease) Related via 6 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly ClinVar. CYC1 2 shared diseasesMitochondrial complex deficiency, Mitochondrial disease 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 4 shared evidence sourcesClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease) Related via 9 shared pathways including Oxidative phosphorylation, Cardiac muscle contraction — evidence mostly ClinVar. NDUFA8 2 shared diseasesMitochondrial complex deficiency, Mitochondrial disease 8 shared pathwaysOxidative phosphorylation, Thermogenesis, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport 4 shared evidence sourcesClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease) Related via 8 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly ClinVar. UQCRC2 2 shared diseasesMitochondrial complex deficiency, Mitochondrial disease 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 4 shared evidence sourcesClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease) Related via 9 shared pathways including Oxidative phosphorylation, Cardiac muscle contraction — evidence mostly ClinVar. COX5A 2 shared diseasesMitochondrial complex deficiency, Mitochondrial disease 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 5 shared evidence sourcesClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), GenCC (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease) Related via 9 shared pathways including Oxidative phosphorylation, Cardiac muscle contraction — evidence mostly ClinVar.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ATP5F1E	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	6	["Oxidative phosphorylation","Thermogenesis","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy"]	5	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","GenCC (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)"]
CYC1	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"]	4	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","ClinGen (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"]	4	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","ClinGen (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"]	4	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)"]
COX5A	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"]	5	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","GenCC (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)"]

Diseases Linked via Similar Genes

Diabetes mellitus type 2 Linked via 2 of 5 related genesATP5F1E, COX5A Obesity Linked via 2 of 5 related genesNDUFA8, UQCRC2 Scoliosis Linked via 1 of 5 related genesNDUFA8 Venous thromboembolism Linked via 1 of 5 related genesUQCRC2 Cytochrome c oxidase deficiency Linked via 1 of 5 related genesCOX5A

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Diabetes mellitus type 2	2	["ATP5F1E","COX5A"]
Obesity	2	["NDUFA8","UQCRC2"]
Scoliosis	1	["NDUFA8"]
Venous thromboembolism	1	["UQCRC2"]
Cytochrome c oxidase deficiency	1	["COX5A"]