Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7386
Gene name	Ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
Gene symbol	UQCRFS1
Synonyms (NCBI Gene)	MC3DN10RIP1RIS1RISPUQCR5
Chromosome	19
Chromosome location	19q12

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1242465339	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1568344751	C>G	Pathogenic	Splice acceptor variant

146

Show/Hide all (146)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006517	hsa-miR-155-5p	Luciferase reporter assayWestern blot	20550618
MIRT006517	hsa-miR-155-5p	Luciferase reporter assayWestern blot	20550618
MIRT050913	hsa-miR-17-5p	CLASH	23622248
MIRT044309	hsa-miR-106b-5p	CLASH	23622248
MIRT039761	hsa-miR-615-3p	CLASH	23622248
MIRT500595	hsa-miR-23c	PAR-CLIP	20371350
MIRT500594	hsa-miR-130a-5p	PAR-CLIP	20371350
MIRT500593	hsa-miR-23b-3p	PAR-CLIP	20371350
MIRT500592	hsa-miR-23a-3p	PAR-CLIP	20371350
MIRT500591	hsa-miR-10a-3p	PAR-CLIP	20371350
MIRT500590	hsa-miR-409-3p	PAR-CLIP	20371350
MIRT500589	hsa-miR-33a-3p	PAR-CLIP	20371350
MIRT500588	hsa-miR-205-3p	PAR-CLIP	20371350
MIRT565071	hsa-miR-7159-5p	PAR-CLIP	20371350
MIRT565070	hsa-miR-505-3p	PAR-CLIP	20371350
MIRT565069	hsa-miR-421	PAR-CLIP	20371350
MIRT500587	hsa-miR-548aw	PAR-CLIP	20371350
MIRT500586	hsa-miR-518a-5p	PAR-CLIP	20371350
MIRT500585	hsa-miR-527	PAR-CLIP	20371350
MIRT500584	hsa-miR-450b-5p	PAR-CLIP	20371350
MIRT500595	hsa-miR-23c	PAR-CLIP	24398324
MIRT500594	hsa-miR-130a-5p	PAR-CLIP	24398324
MIRT500593	hsa-miR-23b-3p	PAR-CLIP	24398324
MIRT500592	hsa-miR-23a-3p	PAR-CLIP	24398324
MIRT500591	hsa-miR-10a-3p	PAR-CLIP	24398324
MIRT500590	hsa-miR-409-3p	PAR-CLIP	24398324
MIRT500589	hsa-miR-33a-3p	PAR-CLIP	24398324
MIRT500588	hsa-miR-205-3p	PAR-CLIP	24398324
MIRT500587	hsa-miR-548aw	PAR-CLIP	24398324
MIRT500586	hsa-miR-518a-5p	PAR-CLIP	24398324
MIRT500585	hsa-miR-527	PAR-CLIP	24398324
MIRT500584	hsa-miR-450b-5p	PAR-CLIP	24398324
MIRT500595	hsa-miR-23c	PAR-CLIP	20371350
MIRT500594	hsa-miR-130a-5p	PAR-CLIP	20371350
MIRT500593	hsa-miR-23b-3p	PAR-CLIP	20371350
MIRT500592	hsa-miR-23a-3p	PAR-CLIP	20371350
MIRT500591	hsa-miR-10a-3p	PAR-CLIP	20371350
MIRT500590	hsa-miR-409-3p	PAR-CLIP	20371350
MIRT500589	hsa-miR-33a-3p	PAR-CLIP	20371350
MIRT500588	hsa-miR-205-3p	PAR-CLIP	20371350
MIRT565071	hsa-miR-7159-5p	PAR-CLIP	20371350
MIRT565070	hsa-miR-505-3p	PAR-CLIP	20371350
MIRT565069	hsa-miR-421	PAR-CLIP	20371350
MIRT500587	hsa-miR-548aw	PAR-CLIP	20371350
MIRT500586	hsa-miR-518a-5p	PAR-CLIP	20371350
MIRT500585	hsa-miR-527	PAR-CLIP	20371350
MIRT500584	hsa-miR-450b-5p	PAR-CLIP	20371350
MIRT500595	hsa-miR-23c	PAR-CLIP	24398324
MIRT500594	hsa-miR-130a-5p	PAR-CLIP	24398324
MIRT500593	hsa-miR-23b-3p	PAR-CLIP	24398324
MIRT500592	hsa-miR-23a-3p	PAR-CLIP	24398324
MIRT500591	hsa-miR-10a-3p	PAR-CLIP	24398324
MIRT500590	hsa-miR-409-3p	PAR-CLIP	24398324
MIRT500589	hsa-miR-33a-3p	PAR-CLIP	24398324
MIRT500588	hsa-miR-205-3p	PAR-CLIP	24398324
MIRT500587	hsa-miR-548aw	PAR-CLIP	24398324
MIRT500586	hsa-miR-518a-5p	PAR-CLIP	24398324
MIRT500585	hsa-miR-527	PAR-CLIP	24398324
MIRT500584	hsa-miR-450b-5p	PAR-CLIP	24398324
MIRT1476697	hsa-miR-1257	CLIP-seq
MIRT1476698	hsa-miR-1297	CLIP-seq
MIRT1476699	hsa-miR-132	CLIP-seq
MIRT1476700	hsa-miR-212	CLIP-seq
MIRT1476701	hsa-miR-23a	CLIP-seq
MIRT1476702	hsa-miR-23b	CLIP-seq
MIRT1476703	hsa-miR-26a	CLIP-seq
MIRT1476704	hsa-miR-26b	CLIP-seq
MIRT1476705	hsa-miR-3136-5p	CLIP-seq
MIRT1476706	hsa-miR-3183	CLIP-seq
MIRT1476707	hsa-miR-3671	CLIP-seq
MIRT1476708	hsa-miR-371-5p	CLIP-seq
MIRT1476709	hsa-miR-371b-5p	CLIP-seq
MIRT1476710	hsa-miR-4272	CLIP-seq
MIRT1476711	hsa-miR-4439	CLIP-seq
MIRT1476712	hsa-miR-4465	CLIP-seq
MIRT1476713	hsa-miR-4477a	CLIP-seq
MIRT1476714	hsa-miR-4513	CLIP-seq
MIRT1476715	hsa-miR-4711-3p	CLIP-seq
MIRT1476716	hsa-miR-4720-3p	CLIP-seq
MIRT1476717	hsa-miR-4723-3p	CLIP-seq
MIRT1476718	hsa-miR-4762-5p	CLIP-seq
MIRT1476719	hsa-miR-4766-5p	CLIP-seq
MIRT1476720	hsa-miR-4804-3p	CLIP-seq
MIRT1476721	hsa-miR-499-3p	CLIP-seq
MIRT1476722	hsa-miR-499a-3p	CLIP-seq
MIRT1476723	hsa-miR-511	CLIP-seq
MIRT1476724	hsa-miR-516a-3p	CLIP-seq
MIRT1476725	hsa-miR-520f	CLIP-seq
MIRT1476726	hsa-miR-548l	CLIP-seq
MIRT1476727	hsa-miR-600	CLIP-seq
MIRT1476728	hsa-miR-607	CLIP-seq
MIRT1476698	hsa-miR-1297	CLIP-seq
MIRT1476701	hsa-miR-23a	CLIP-seq
MIRT1476702	hsa-miR-23b	CLIP-seq
MIRT1476703	hsa-miR-26a	CLIP-seq
MIRT1476704	hsa-miR-26b	CLIP-seq
MIRT1476706	hsa-miR-3183	CLIP-seq
MIRT1476707	hsa-miR-3671	CLIP-seq
MIRT1476708	hsa-miR-371-5p	CLIP-seq
MIRT1476709	hsa-miR-371b-5p	CLIP-seq
MIRT1476712	hsa-miR-4465	CLIP-seq
MIRT1476717	hsa-miR-4723-3p	CLIP-seq
MIRT1476718	hsa-miR-4762-5p	CLIP-seq
MIRT1476721	hsa-miR-499-3p	CLIP-seq
MIRT1476722	hsa-miR-499a-3p	CLIP-seq
MIRT1476724	hsa-miR-516a-3p	CLIP-seq
MIRT1476727	hsa-miR-600	CLIP-seq
MIRT1476728	hsa-miR-607	CLIP-seq
MIRT1476698	hsa-miR-1297	CLIP-seq
MIRT1476699	hsa-miR-132	CLIP-seq
MIRT1476700	hsa-miR-212	CLIP-seq
MIRT1476701	hsa-miR-23a	CLIP-seq
MIRT1476702	hsa-miR-23b	CLIP-seq
MIRT1476703	hsa-miR-26a	CLIP-seq
MIRT1476704	hsa-miR-26b	CLIP-seq
MIRT1476705	hsa-miR-3136-5p	CLIP-seq
MIRT1476706	hsa-miR-3183	CLIP-seq
MIRT1476707	hsa-miR-3671	CLIP-seq
MIRT1476708	hsa-miR-371-5p	CLIP-seq
MIRT1476709	hsa-miR-371b-5p	CLIP-seq
MIRT1476711	hsa-miR-4439	CLIP-seq
MIRT1476712	hsa-miR-4465	CLIP-seq
MIRT1476714	hsa-miR-4513	CLIP-seq
MIRT1476715	hsa-miR-4711-3p	CLIP-seq
MIRT1476716	hsa-miR-4720-3p	CLIP-seq
MIRT1476717	hsa-miR-4723-3p	CLIP-seq
MIRT1476718	hsa-miR-4762-5p	CLIP-seq
MIRT1476720	hsa-miR-4804-3p	CLIP-seq
MIRT1476721	hsa-miR-499-3p	CLIP-seq
MIRT1476722	hsa-miR-499a-3p	CLIP-seq
MIRT1476723	hsa-miR-511	CLIP-seq
MIRT1476724	hsa-miR-516a-3p	CLIP-seq
MIRT1476725	hsa-miR-520f	CLIP-seq
MIRT1476728	hsa-miR-607	CLIP-seq
MIRT1476698	hsa-miR-1297	CLIP-seq
MIRT1476703	hsa-miR-26a	CLIP-seq
MIRT1476704	hsa-miR-26b	CLIP-seq
MIRT1476706	hsa-miR-3183	CLIP-seq
MIRT1476707	hsa-miR-3671	CLIP-seq
MIRT1476708	hsa-miR-371-5p	CLIP-seq
MIRT1476709	hsa-miR-371b-5p	CLIP-seq
MIRT1476712	hsa-miR-4465	CLIP-seq
MIRT1476717	hsa-miR-4723-3p	CLIP-seq
MIRT1476724	hsa-miR-516a-3p	CLIP-seq
MIRT2657676	hsa-miR-3691-3p	CLIP-seq
MIRT2657677	hsa-miR-627	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	23168492, 27499296, 28380382, 33961781
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	31883641
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006122	Process	Mitochondrial electron transport, ubiquinol to cytochrome c	IBA
GO:0008121	Function	Quinol-cytochrome-c reductase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IBA
GO:0022904	Process	Respiratory electron transport chain	IMP	31883641
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0034551	Process	Mitochondrial respiratory chain complex III assembly	IMP	31883641
GO:0045275	Component	Respiratory chain complex III	IBA
GO:0045275	Component	Respiratory chain complex III	IC	31883641
GO:0045275	Component	Respiratory chain complex III	IDA	23168492
GO:0045275	Component	Respiratory chain complex III	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
191327	12587	ENSG00000169021

P47985

Protein name

Cytochrome b-c1 complex subunit Rieske, mitochondrial (EC 7.1.1.8) (Complex III subunit 5) (Cytochrome b-c1 complex subunit 5) (Rieske iron-sulfur protein) (RISP) (Rieske protein UQCRFS1) (Ubiquinol-cytochrome c reductase iron-sulfur subunit) [Cleaved int

Protein function

[Cytochrome b-c1 complex subunit Rieske, mitochondrial]: Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylati

PDB

5XTE , 5XTH , 5XTI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09165	Ubiq-Cytc-red_N	2 → 76	Ubiquinol-cytochrome c reductase 8 kDa, N-terminal	Domain
PF02921	UCR_TM	80 → 145	Ubiquinol cytochrome reductase transmembrane region	Family
PF00355	Rieske	153 → 264	Rieske [2Fe-2S] domain	Domain

Sequence

MLSVASRSGPFAPVLSATSRGVAGALRPLVQATVPATPEQPVLDLKRPFLSRESLSGQAV
RRPLVASVGLNVPASVCYSHTDIKVPDFSEYRRLEVLDSTKSSRESSEARKGFSYLVTGV
TTVGVAYAAKNAVTQFVSSMSASADVLALAKIEIKLSDIPEGKNMAFKWRGKPLFVRHRT
QKEIEQEAAVELSQLRDPQHDLDRVKKPEWVILIGVCTHLGCVPIANAGDFGGYYCPCHG
SHYDASGRIRLGPAPLNLEVPTYEFTSDDMVIVG

Sequence length

274

Interactions

View interactions

	KEGG		Reactome
	Oxidative phosphorylation Metabolic pathways Efferocytosis 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		Respiratory electron transport

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiomyopathy	Pathogenic	rs1568344751, rs1242465339, rs1568346416	RCV000758256 RCV000758562 RCV000758565
Lactic acidosis	Pathogenic	rs1568344751, rs1242465339	RCV000758256 RCV000758562
Mitochondrial complex III deficiency, nuclear type 10	Pathogenic	rs1568344751, rs1242465339, rs1568346416	RCV001003400 RCV001003402 RCV001003401
Propionic acidemia	Pathogenic	rs1568344751, rs1242465339	RCV000758256 RCV000758562

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alopecia	Associate	31883641
Alzheimer Disease	Associate	35432724, 35788655
Breast Neoplasms	Associate	21901141, 22433433
Carcinoma Renal Cell	Inhibit	27845902
Cardiomyopathies	Associate	31883641
Hypoxia	Associate	39513914
Hypoxia Brain	Associate	39513914
Mitochondrial Complex III Deficiency	Associate	31883641
Mitochondrial Diseases	Associate	27845902, 31883641, 39513914
Musculoskeletal Diseases	Associate	35788655
Ovarian Neoplasms	Associate	34439877, 37221238
Primary Ovarian Insufficiency	Associate	37460774
Stomach Neoplasms	Associate	37221238

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