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

    Gene ID: 7386, updated on 2-Nov-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 respiratory chain complex III. Implicated in mitochondrial complex III deficiency. [provided by Alliance of Genome Resources, Nov 2024]
    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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    See UQCRFS1 in Genome Data Viewer
    Location:
    19q12
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (29205320..29213151, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (31736436..31744253, complement)
    RS_2024_09 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 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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    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)

    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
    		  
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of respiratory chain complex III IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of respiratory chain complex III IC
    Inferred by Curator
    more info
    		 PubMed 
    part_of respiratory chain complex III 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_2024_08

    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

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