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    UQCRB ubiquinol-cytochrome c reductase binding protein [ Homo sapiens (human) ]

    Gene ID: 7381, updated on 10-Dec-2024

    Summary

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    Official Symbol
    UQCRBprovided by HGNC
    Official Full Name
    ubiquinol-cytochrome c reductase binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:12582
    See related
    Ensembl:ENSG00000156467 MIM:191330; AllianceGenome:HGNC:12582
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    QPC; QCR7; QP-C; UQBC; UQBP; UQPC; UQCR6; MC3DN3
    Summary
    This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced angiogenesis through mitochondrial reactive oxygen species-mediated signaling. Mutations in this gene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. Related pseudogenes have been identified on chromosomes 1, 5 and X. [provided by RefSeq, Dec 2011]
    Expression
    Ubiquitous expression in heart (RPKM 51.3), kidney (RPKM 32.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UQCRB in Genome Data Viewer
    Location:
    8q22.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (96222947..96235545, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (97348283..97360880, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (97235175..97247773, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19385 Neighboring gene growth differentiation factor 6 Neighboring gene uncharacterized LOC124901984 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:97224174-97224416 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27659 Neighboring gene UQCRB antisense RNA 1 Neighboring gene mitochondrial transcription termination factor 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:97272591-97273284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27660 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:97273659-97273983 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:97273978-97274670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27661 Neighboring gene uncharacterized LOC105375652 Neighboring gene Sharpr-MPRA regulatory region 10382 Neighboring gene phosphatidylserine synthase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27663

    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. Downregulation of mitochondrial UQCRB inhibits cancer stem cell-like properties in glioblastoma. Jung N, et al. Int J Oncol, 2018 Jan. PMID 29115404
    2. Common protein-binding sites in the 5'-flanking regions of human genes for cytochrome c1 and ubiquinone-binding protein. Suzuki H, et al. J Biol Chem, 1990 May 15. PMID 2159470
    3. Chromosomal assignment of the gene for the ubiquinone-binding protein of human mitochondrial cytochrome bc1 complex. Hosokawa Y, et al. Biochem Int, 1990. PMID 2167087
    4. Cloning and sequencing of a cDNA for human mitochondrial ubiquinone-binding protein of complex III. Suzuki H, et al. Biochem Biophys Res Commun, 1988 Oct 31. PMID 3056408
    5. Molecular correlates for maximal oxygen uptake and type 1 fibers. Parikh H, et al. Am J Physiol Endocrinol Metab, 2008 Jun. PMID 18445752

    See all (71) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. N-Acetyltransferase 10 represses Uqcr11 and Uqcrb independently of ac4C modification to promote heart regeneration.
      Title: N-Acetyltransferase 10 represses Uqcr11 and Uqcrb independently of ac4C modification to promote heart regeneration.
    2. Disruption of mitochondrial complex III in cap mesenchyme but not in ureteric progenitors results in defective nephrogenesis associated with amino acid deficiency.
      Title: Disruption of mitochondrial complex III in cap mesenchyme but not in ureteric progenitors results in defective nephrogenesis associated with amino acid deficiency.
    3. MiR-4435 is an UQCRB-related circulating miRNA in human colorectal cancer.
      Title: MiR-4435 is an UQCRB-related circulating miRNA in human colorectal cancer.
    4. our present study revealed that hsa-miR-10a-5p is associated with genes involved in the cholesterol synthesis pathway in mutant UQCRB-expressing cells.
      Title: Hsa-miR-10a-5p downregulation in mutant UQCRB-expressing cells promotes the cholesterol biosynthesis pathway.
    5. Our results provide novel insights into the critical role of UQCRB in regulating CRC, supporting UQCRB as a new candidate for the development of diagnostics for CRC patients.
      Title: Mitochondrial UQCRB as a new molecular prognostic biomarker of human colorectal cancer.
    6. The knockdown of UQCRB gene by UQCRB siRNA significantly inhibited the cancer stem cell-like phenotypes as well as the expression of stemness markers by blocking mitochondrial ROS/HIF1alpha/cMet pathway in U87MG GSCs.
      Title: Downregulation of mitochondrial UQCRB inhibits cancer stem cell-like properties in glioblastoma.
    7. UQCRB gene mutation is associated with mitochondrial complex III deficiency in a Chinese family.
      Title: [Analysis of UQCRB gene mutation in a child with mitochondrial complex III deficiency].
    8. a UQCRB mutation promotes angiogenesis through the generation of mitochondrial reactive oxygen species
      Title: A mutation in the mitochondrial protein UQCRB promotes angiogenesis through the generation of mitochondrial reactive oxygen species.
    9. Mitochondrial UQCRB regulates VEGFR2 signaling in endothelial cells.
      Title: Mitochondrial UQCRB regulates VEGFR2 signaling in endothelial cells.
    10. Studies indicate that mitochondrial oxygen sensor ubiquinol-cytochrome c reductase binding protein (UQCRB) as a terpestacin-binding protein.
      Title: Exploring the role of mitochondrial UQCRB in angiogenesis using small molecules.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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 III deficiency nuclear type 3
    MedGen: C3554606 OMIM: 615158 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Clone Names

    • FLJ92016, FLJ97033

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aerobic respiration TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cellular respiration NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial electron transport, ubiquinol to cytochrome c IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial electron transport, ubiquinol to cytochrome c NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in oxidative phosphorylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    part_of respiratory chain complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of respiratory chain complex III IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    cytochrome b-c1 complex subunit 7
    Names
    complex III subunit 7
    complex III subunit VII
    mitochondrial ubiquinone-binding protein
    ubiquinol-cytochrome c reductase complex 14 kDa protein
    ubiquinol-cytochrome c reductase, complex III subunit VI
    NP_001186904.1
    NP_001241681.1
    NP_006285.1

    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.

    Genomic

    1. NG_008237.2 RefSeqGene

      Range
      4988..17586
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199975.3 → NP_001186904.1  cytochrome b-c1 complex subunit 7 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AP003465
      UniProtKB/Swiss-Prot
      P14927
      Conserved Domains (1) summary
      pfam02271
      Location:1 → 74
      UCR_14kD; Ubiquinol-cytochrome C reductase complex 14kD subunit

    2. NM_001254752.2 → NP_001241681.1  cytochrome b-c1 complex subunit 7 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP003465
      Consensus CDS
      CCDS59107.1
      UniProtKB/TrEMBL
      B7Z2R2
      Related
      ENSP00000430494.1, ENST00000518406.5
      Conserved Domains (1) summary
      pfam02271
      Location:10 → 86
      UCR_14kD; Ubiquinol-cytochrome C reductase complex 14kD subunit

    3. NM_006294.5 → NP_006285.1  cytochrome b-c1 complex subunit 7 isoform 1

      See identical proteins and their annotated locations for NP_006285.1

      Status: REVIEWED

      Source sequence(s)
      AP003465
      Consensus CDS
      CCDS6269.1
      UniProtKB/Swiss-Prot
      E5RJU0, P14927, Q6FGD1
      UniProtKB/TrEMBL
      B2R4A2
      Related
      ENSP00000287022.5, ENST00000287022.10
      Conserved Domains (1) summary
      pfam02271
      Location:9 → 106
      UCR_14kD; Ubiquinol-cytochrome C reductase complex 14kD subunit

    RNA

    1. NR_045639.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP003465

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      96222947..96235545 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      97348283..97360880 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P14927.2 GenPept UniProtKB/Swiss-Prot:P14927

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