UQCRFS1 - ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 Gene

Also Known as RIP1; RIS1; RISP; UQCR5; MC3DN10

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7386

About UQCRFS1

Cytogenetic location: 19q12 Genomic coordinates (GRCh38): 19:29,205,320-29,213,151 (from NCBI)

This gene has 1 transcript (splice variant), 266 orthologues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 101.2), kidney (RPKM 70.7) and 25 other tissues.

Summary

Predicted to enable oxidoreductase activity. Involved in mitochondrial respiratory chain complex III assembly and respiratory electron transport chain. Located in mitochondrion. Part of mitochondrial respiratory chain complex III and mitochondrial respiratory chain complex IV. Implicated in mitochondrial complex III deficiency. [provided by Alliance of Genome Resources, Apr 2022]

UQCRFS1 Products (1)

mRNA	Protein	Name
NM_006003.3	NP_005994.2	cytochrome b-c1 complex subunit Rieske, mitochondrial

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23168492	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial respiratory chain complex III assembly	IMP IMP: Inferred from mutant phenotype	31883641	GOA
involved in respiratory electron transport chain	IMP IMP: Inferred from mutant phenotype	31883641	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	31883641	GOA
part of respiratory chain complex III	IDA IDA: Inferred from direct assay	23168492	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UQCRFS1 Protein Structure

Ubiq-Cytc-red_N

UCR_TM

Rieske

0
100
200
274 a.a.

Protein Preferred Names	Protein Names
cytochrome b-c1 complex subunit Rieske, mitochondrial	Rieske iron-sulfur protein

UQCRFS1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	UQCRFS1	P47985	LYRM7	Homo sapiens	Q5U5X0	Anti Bait CoIP	28380382
Intra	UQCRFS1	P47985	LYRM7	Homo sapiens	Q5U5X0	Anti Tag CoIP	28380382
Intra	UQCRFS1	P47985	LYRM7	Homo sapiens	Q5U5X0	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

UQCRFS1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82120	Complex III Subunit 5 Antibody (YA1865)	WB, IHC-F, IHC-P, ICC/IF, IP	Human, Mouse, Rat
HY-P82120A	Complex III Subunit 5 Antibody (YA1865)(PBS only)	WB, IHC-F, IHC-P, ICC/IF, IP	Human, Mouse, Rat
HY-P84344	RISP Antibody (YA4041)	WB, ICC/IF, FC, ELISA	Human
HY-P84344A	RISP Antibody (YA4041)(PBS only)	WB, ICC/IF, FC, ELISA	Human

Related Diseases

Diseases	Alias
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	MC3DN10 Mitochondrial Complex Iii Deficiency, Nuclear 10 Mitochondrial Complex 3 Deficiency, Nuclear Type 10
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Propionic Acidemia	Ketotic Hyperglycinemia Propionyl-Coa Carboxylase Deficiency Pcc Deficiency Propionicacidemia Glycinemia, Ketotic Hyperglycinemia With Ketoacidosis And Leukopenia Ketotic Glycinemia Propionic Aciduria Prop Acidemia, Propionic PA-1 Ketotic Ii Glycinemia Hyperglycinemia, Ketotic Propionic Acidemia Type I Propionic Acidemia Type Ii PA-2 Propionicaciduria
Isolated Complex Iii Deficiency	Isolated Coq-Cytochrome C Reductase Deficiency Isolated Coenzyme Q-Cytochrome C Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex Iii Deficiency Isolated Ubiquinone-Cytochrome C Reductase Deficiency
Mitochondrial Complex Iii Deficiency	Complex 3 Mitochondrial Respiratory Chain Deficiency Isolated Coq-Cytochrome C Reductase Deficiency Ubiquinone-Cytochrome C Oxidoreductase Deficiency
Alopecia Totalis	Loss Of All Scalp Hair
Gracile Syndrome	Finnish Lethal Neonatal Metabolic Syndrome Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, And Early Death Flnms Fellman Syndrome Fellman Disease Finnish Lactic Acidosis With Hepatic Hemosiderosis Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome Lactic Acidosis, Finnish, With Hepatic Hemosiderosis Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis And Early Death GRACILE
Alopecia
Mitochondrial Complex V Deficiency, Nuclear Type 3	Mitochondrial Complex Iii Deficiency Nuclear Type 5 MC5DN3 Mitochondrial Complex Iii Deficiency, Nuclear Type 5 Mitochondrial Complex V Deficiency Nuclear Type 3 MC3DN5 Mitochondrial Complex V Deficiency, Atp5e Type Mitochondrial Complex Iii Deficiency, Nuclear 5 Mitochondrial Complex V Deficiency, Nuclear Type 3 Mitochondrial Complex V Deficiency Atp5e Type Mitochondrial Complex V Deficiency Type 3 Mitochondrial Complex V Deficiency, Nuclear, Type 3
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Leigh Syndrome, French Canadian Type Mitochondrial Complex V Deficiency Nuclear Type 4 Cytochrome C Oxidase Deficiency, French Canadian Type Lsfc Cox Deficiency, French Canadian Type MC5DN4 MC4DN5 Cox Deficiency, Saguenay-Lac-Saint-Jean Type Leigh Syndrome, Saguenay-Lac-Saint-Jean Type Mitochondrial Complex V Deficiency, Nuclear Type 4 French Canadian Leigh Disease Leigh Syndrome, French-Canadian Type Leigh Syndrome , French Canadian Type Mitochondrial Complex V Deficiency, Atp5a1 Type French Canadian Type Cox Deficiency French Canadian Type Cytochrome C Oxidase Deficiency French Canadian Type Leigh Syndrome Saguenay Lac Saint Jean Type Cox Deficiency Saguenay Lac Saint Jean Type Leigh Syndrome Cox Deficiency, Saguenay Lac Saint Jean Type Leigh Syndrome, Saguenay Lac Saint Jean Type Mitochondrial Complex V Deficiency, Nuclear Type 4 Mitochondrial Complex V Deficiency Atp5a1 Type Mitochondrial Complex V Deficiency Type 4 Mitochondrial Complex V Deficiency, Nuclear, Type 4
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency	Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Fatal Infantile Cox Deficiency Fatal Infantile Cytochrome C Oxidase Deficiency Fatal Infantile Encephalocardiomyopathy
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15501	UQCRFS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	UQCRFS1	MGD	MGI:1913944
Rattus norvegicus	UQCRFS1	RGD	RGD:628838
Canis familiaris	UQCRFS1	VGNC	VGNC:53998
Bos taurus	UQCRFS1	VGNC	VGNC:53044