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

Gene ID: 7381, updated on 27-Nov-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
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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. 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
  2. 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
  3. Mitochondrial UQCRB as a new molecular prognostic biomarker of human colorectal cancer. Kim HC, et al. Exp Mol Med, 2017 Nov 17. PMID 29147009, Free PMC Article
  4. Downregulation of mitochondrial UQCRB inhibits cancer stem cell-like properties in glioblastoma. Jung N, et al. Int J Oncol, 2018 Jan. PMID 29115404
  5. 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

See all (70) 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
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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

Gene LinkOut

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