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    UQCRH ubiquinol-cytochrome c reductase hinge protein [ Homo sapiens (human) ]

    Gene ID: 7388, updated on 3-Nov-2024

    Summary

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    Official Symbol
    UQCRHprovided by HGNC
    Official Full Name
    ubiquinol-cytochrome c reductase hinge proteinprovided by HGNC
    Primary source
    HGNC:HGNC:12590
    See related
    Ensembl:ENSG00000173660 MIM:613844; AllianceGenome:HGNC:12590
    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
    QCR6; UQCR8; MC3DN11
    Summary
    Enables ubiquinol-cytochrome-c reductase activity. Predicted to be involved in mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. Part of mitochondrial inner membrane. Implicated in mitochondrial complex III deficiency. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in heart (RPKM 164.7), colon (RPKM 117.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UQCRH in Genome Data Viewer
    Location:
    1p33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (46303698..46316776)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (46180920..46193993)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (46769370..46782448)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 838 Neighboring gene protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:46683827-46684328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46685102-46685602 Neighboring gene leucine rich adaptor protein 1 Neighboring gene MPRA-validated peak204 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 839 Neighboring gene RAD54 like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46750956-46751580 Neighboring gene leucine rich repeat containing 41 Neighboring gene NANOG hESC enhancer GRCh37_chr1:46764257-46764758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46766628-46767210 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46767211-46767793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 843 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 844 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:46768959-46769542 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:46769543-46770124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46794429-46795157 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:46795158-46795887 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46795888-46796616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46797347-46798076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 845 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:46804880-46805679 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1000 Neighboring gene NOP2/Sun RNA methyltransferase 4 Neighboring gene MPRA-validated peak205 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr1:46837735-46837899 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46859877-46860390 Neighboring gene fatty acid amide hydrolase

    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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    Related articles in PubMed

    1. An extremely acidic amino-terminal presequence of the precursor for the human mitochondrial hinge protein. Ohta S, et al. FEBS Lett, 1987 Dec 21. PMID 2826252
    2. Elevated expression of the human mitochondrial hinge protein gene in cancer. Liu AY, et al. Cancer Res, 1993 Jun 1. PMID 7684318
    3. UQCRH gene encoding mitochondrial Hinge protein is interrupted by a translocation in a soft-tissue sarcoma and epigenetically inactivated in some cancer cell lines. Modena P, et al. Oncogene, 2003 Jul 17. PMID 12881716
    4. The mitochondrial hinge protein, UQCRH, is a novel prognostic factor for hepatocellular carcinoma. Park ER, et al. Cancer Med, 2017 Apr. PMID 28332314, Free PMC Article
    5. UQCRH downregulation promotes Warburg effect in renal cell carcinoma cells. Luo Y, et al. Sci Rep, 2020 Sep 14. PMID 32929120, Free PMC Article

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of abnormal NDUFB2 and UQCRH expression with venous thromboembolism in patients with liver cirrhosis.
      Title: Association of abnormal NDUFB2 and UQCRH expression with venous thromboembolism in patients with liver cirrhosis.
    2. Genome-wide analysis of DNA methylation identifies the apoptosis-related gene UQCRH as a tumor suppressor in renal cancer.
      Title: Genome-wide analysis of DNA methylation identifies the apoptosis-related gene UQCRH as a tumor suppressor in renal cancer.
    3. Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.
      Title: Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.
    4. UQCRH downregulation promotes Warburg effect in renal cell carcinoma cells.
      Title: UQCRH downregulation promotes Warburg effect in renal cell carcinoma cells.
    5. Results show that UQCRH is overexpressed in hepatocellular carcinoma.
      Title: The mitochondrial hinge protein, UQCRH, is a novel prognostic factor for hepatocellular carcinoma.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    7. These data provide preliminary evidence of the inactivation of UQCRH gene in cancer either by structural rearrangements or epigenetic mechanisms.
      Title: UQCRH gene encoding mitochondrial Hinge protein is interrupted by a translocation in a soft-tissue sarcoma and epigenetically inactivated in some cancer cell lines.
    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 11
    MedGen: C5774259 OMIM: 620137 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 hinge protein (UQCRH) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N 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

    Clone Names

    • MGC111572

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquinol-cytochrome-c reductase activity IMP
    Inferred from Mutant Phenotype
    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 
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 HDA PubMed 
    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 6, mitochondrial
    Names
    complex III subunit 6
    cytochrome c1 non-heme 11 kDa protein
    mitochondrial hinge protein
    ubiquinol-cytochrome c reductase complex 11 kDa protein
    ubiquinol-cytochrome c reductase, complex III subunit VIII
    NP_001284494.1
    NP_001284495.1
    NP_005995.2

    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_001297565.2 → NP_001284494.1  cytochrome b-c1 complex subunit 6, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_001284494.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate internal exon and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AA526171, BC093060
      UniProtKB/TrEMBL
      Q567R0
      Conserved Domains (1) summary
      pfam02320
      Location:22 → 85
      UCR_hinge; Ubiquinol-cytochrome C reductase hinge protein

    2. NM_001297566.2 → NP_001284495.1  cytochrome b-c1 complex subunit 6, mitochondrial isoform 3 precursor

      See identical proteins and their annotated locations for NP_001284495.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AA526171, BG472687, BP366403
      Conserved Domains (1) summary
      pfam02320
      Location:19 → 81
      UCR_hinge; Ubiquinol-cytochrome C reductase hinge protein

    3. NM_006004.4 → NP_005995.2  cytochrome b-c1 complex subunit 6, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_005995.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC001934, BP366403
      Consensus CDS
      CCDS30704.1
      UniProtKB/Swiss-Prot
      B2R4V9, D3DQ18, P07919, Q5TDF6, Q6LDB8, Q9BQ91
      Related
      ENSP00000309565.5, ENST00000311672.10
      Conserved Domains (1) summary
      pfam02320
      Location:28 → 91
      UCR_hinge; Ubiquinol-cytochrome C reductase hinge protein

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      46303698..46316776
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      46180920..46193993
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P07919.2 GenPept UniProtKB/Swiss-Prot:P07919

    Gene LinkOut

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