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

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

    Summary

    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
    NEW
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    Genomic context

    See UQCRFS1 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     

    General protein information

    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)

    NEW Try the new Transcript table

    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_006003.3NP_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:151274
      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:110274
      Rieske_proteo; ubiquinol-cytochrome c reductase, iron-sulfur subunit
      pfam02921
      Location:80145
      UCR_TM; Ubiquinol cytochrome reductase transmembrane region
      pfam09165
      Location:276
      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)