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UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 [ Homo sapiens (human) ]

Gene ID: 7386, updated on 7-Apr-2024

Summary

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Official Symbol
UQCRFS1provided by HGNC
Official Full Name
ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1provided by HGNC
Primary source
HGNC:HGNC:12587
See related
Ensembl:ENSG00000169021 MIM:191327; AllianceGenome:HGNC:12587
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RIP1; RIS1; RISP; UQCR5; MC3DN10
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]
Expression
Ubiquitous expression in heart (RPKM 101.2), kidney (RPKM 70.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
19q12
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (29205320..29213151, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (31736436..31744253, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (29696227..29704058, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:29510025-29510526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:29538773-29539274 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:29552893-29553394 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:29553395-29553894 Neighboring gene uncharacterized LOC124904682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:29577209-29577710 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:29635999-29636174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14405 Neighboring gene UQCRFS1 divergent transcript Neighboring gene RNA, 7SL, cytoplasmic 340, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis. Gusic M, et al. Am J Hum Genet, 2020 Jan 2. PMID 31883641, Free PMC Article
  2. Ubiquinol cytochrome c reductase (UQCRFS1) gene amplification in primary breast cancer core biopsy samples. Ohashi Y, et al. Gynecol Oncol, 2004 Apr. PMID 15047214
  3. CA125 and UQCRFS1 FISH studies of ovarian carcinoma. Kaneko SJ, et al. Gynecol Oncol, 2003 Jul. PMID 12821338
  4. Structure, sequence and location of the UQCRFS1 gene for the human Rieske Fe-S protein. Pennacchio LA, et al. Gene, 1995 Apr 3. PMID 7721092
  5. The primary structure of human Rieske iron-sulfur protein of mitochondrial cytochrome bc1 complex deduced from cDNA analysis. Nishikimi M, et al. Biochem Int, 1990. PMID 2158323

See all (64) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Pulse-chase SILAC-based analyses reveal selective oversynthesis and rapid turnover of mitochondrial protein components of respiratory complexes.
    Title: Pulse-chase SILAC-based analyses reveal selective oversynthesis and rapid turnover of mitochondrial protein components of respiratory complexes.
  2. Rieske iron-sulfur protein induces FKBP12.6/RyR2 complex remodeling and subsequent pulmonary hypertension through NF-kappaB/cyclin D1 pathway.
    Title: Rieske iron-sulfur protein induces FKBP12.6/RyR2 complex remodeling and subsequent pulmonary hypertension through NF-κB/cyclin D1 pathway.
  3. Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.
    Title: Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.
  4. UQCRFS1 produces N-terminal polypeptides, which remain bound to holocomplex III. We show that, in normal conditions, these UQCRFS1 fragments are rapidly removed, but when TTC19 is absent they accumulate within complex III, causing its structural and functional impairment.
    Title: TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III.
  5. UQCRFS1/RISP knockdown in breast tumor cell line led to decreased mitochondrial membrane potential as well as a decrease in matrigel invasion.
    Title: Impaired OXPHOS complex III in breast cancer.
  6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  8. UQCRFS1 gene appears to be involved in development of more aggressive phenotype of breast cancer.
    Title: Ubiquinol cytochrome c reductase (UQCRFS1) gene amplification in primary breast cancer core biopsy samples.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Mitochondrial complex 3 deficiency, nuclear type 10
MedGen: C5394051 OMIM: 618775 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 (UQCRFS1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2 iron, 2 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquinol-cytochrome-c reductase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in mitochondrial electron transport, ubiquinol to cytochrome c IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial respiratory chain complex III assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in respiratory electron transport chain IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
part_of mitochondrial respiratory chain complex III IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of mitochondrial respiratory chain complex III IC
Inferred by Curator
more info
 PubMed 
part_of mitochondrial respiratory chain complex III IDA
Inferred from Direct Assay
more info
 PubMed 
part_of mitochondrial respiratory chain complex IV IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion HDA PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
cytochrome b-c1 complex subunit Rieske, mitochondrial
Names
Rieske iron-sulfur protein
Rieske protein UQCRFS1
complex III subunit 5
cytochrome b-c1 complex subunit 5
epididymis secretory sperm binding protein
ubiquinol-cytochrome c reductase iron-sulfur subunit
NP_005994.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_006003.3 → NP_005994.2  cytochrome b-c1 complex subunit Rieske, mitochondrial

    See identical proteins and their annotated locations for NP_005994.2

    Status: VALIDATED

    Source sequence(s)
    AC007786, BC010035, BF210184, BF979273
    Consensus CDS
    CCDS12415.1
    UniProtKB/Swiss-Prot
    A8K519, P47985, Q6NVX5, Q9UPH2
    UniProtKB/TrEMBL
    A0A384NPX8
    Related
    ENSP00000306397.3, ENST00000304863.6
    Conserved Domains (4) summary
    cd03470
    Location:151 → 274
    Rieske_cytochrome_bc1; Iron-sulfur protein (ISP) component of the bc(1) complex family, Rieske domain; The Rieske domain is a [2Fe-2S] cluster binding domain involved in electron transfer. The bc(1) complex is a multisubunit enzyme found in many different organisms including ...
    TIGR01416
    Location:110 → 274
    Rieske_proteo; ubiquinol-cytochrome c reductase, iron-sulfur subunit
    pfam02921
    Location:80 → 145
    UCR_TM; Ubiquinol cytochrome reductase transmembrane region
    pfam09165
    Location:2 → 76
    Ubiq-Cytc-red_N; Ubiquinol-cytochrome c reductase 8 kDa, N-terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    29205320..29213151 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    31736436..31744253 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P47985.2 GenPept UniProtKB/Swiss-Prot:P47985

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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